SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS587780186 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS587780188 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587780189 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587780192 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587780205 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587780207 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587780208 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587780210 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587780211 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587780214 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587780216 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587780220 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587780221 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587780222 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587780223 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587780224 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS587780225 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS587780226 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS587780227 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS587780228 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS587780235 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS587780236 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS587780240 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587780244 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS587780247 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS587780248 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS587780252 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS587780253 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS587780254 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS587780255 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS587780256 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS587780257 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS587780258 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS587780259 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS587780262 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS587780271 ACTA1 Health Risk Likely pathogenic Nemaline myopathy 3, autosomal dominant or recessive
RS587780272 ACTA1 Health Risk Pathogenic Nemaline myopathy 3, autosomal dominant or recessive
RS587780273 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS587780275 ACTG1 Health Risk Likely pathogenic Baraitser-winter syndrome 2, Baraitser-winter syndrome 2
RS587780283 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS587780284 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS587780285 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS587780288 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS587780289 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS587780290 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature
RS587780291 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Inborn genetic diseases
RS587780295 CAV1 Health Risk Pathogenic Pulmonary hypertension, primary
RS587780305 CDT1 Health Risk Pathogenic/Likely pathogenic Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4
RS587780308 CEL Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
RS587780309 CEL Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS587780315 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS587780316 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS587780321 CP Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation, Deficiency of ferroxidase
RS587780323 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS587780326 CWF19L1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS587780328 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS587780329 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS587780330 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS587780332 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Inborn genetic diseases
RS587780333 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS587780334 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS587780335 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS587780337 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS587780341 GABRG2 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS587780343 GCK Health Risk Likely pathogenic Gestational diabetes, Monogenic diabetes
RS587780344 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS587780345 GCK Health Risk Pathogenic Gestational diabetes, Type 2 diabetes mellitus
RS587780346 GCK Health Risk Pathogenic/Likely pathogenic Gestational diabetes, Monogenic diabetes
RS587780347 GCK Health Risk Pathogenic Gestational diabetes, Gestational diabetes
RS587780348 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS587780349 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS587780351 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS587780353 GRIN2A Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Landau-Kleffner syndrome
RS587780357 HNF1A Health Risk Conflicting classifications of pathogenicity Diabetes mellitus type 1, Maturity-onset diabetes of the young type 3
RS587780362 ITGA7 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS587780365 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS587780366 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS587780367 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS587780368 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS587780370 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS587780372 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS587780375 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Inborn genetic diseases
RS587780378 KLF11 Health Risk Conflicting classifications of pathogenicity —
RS587780379 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS587780386 MAGI2 Health Risk Conflicting classifications of pathogenicity —
RS587780389 MAGI2 Health Risk Conflicting classifications of pathogenicity —
RS587780391 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, MED12-related disorder
RS587780394 MED17 Health Risk Conflicting classifications of pathogenicity Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS587780395 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS587780397 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS587780399 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS587780403 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Nance-Horan syndrome
RS587780407 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS587780416 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS587780417 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS587780422 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS587780423 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Autosomal recessive limb-girdle muscular dystrophy
RS587780428 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS587780432 RBBP8 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 2, Seckel syndrome 2
RS587780435 RELN Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
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