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
RS140895792 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Childhood onset hearing loss
RS140896339 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS140897013 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Inborn genetic diseases
RS140897155 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1408974101 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS140897453 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, BCOR-related disorder
RS140898616 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 26
RS1408988926 ATP6V0A4 Health Risk Likely pathogenic Renal tubular acidosis, distal
RS140899003 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia
RS140899101 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Jeune thoracic dystrophy
RS1408997904 TCTN2 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS140901011 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS140901235 TRIOBP Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS140902597 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS1409026154 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1409030092 COL18A1 Health Risk Likely pathogenic —
RS140903037 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1409032179 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS140903276 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1409037310 PRDM5 Health Risk Pathogenic/Likely pathogenic Brittle cornea syndrome 2, Cardiovascular phenotype
RS140903769 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS140904308 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS140904592 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS140905333 TRMT10A Health Risk Conflicting classifications of pathogenicity TRMT10A-related disorder, Microcephaly
RS140905560 TFAP2A Health Risk Conflicting classifications of pathogenicity Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS140905579 MCM2 Health Risk Conflicting classifications of pathogenicity —
RS1409058629 VPS13A Health Risk Pathogenic —
RS1409062242 IFNAR1 Health Risk Pathogenic —
RS1409068410 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1409069267 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS1409078868 COL2A1 Health Risk Likely pathogenic —
RS140908725 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS1409088355 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1409088398 RAD51D Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS140908982 GRIA3 Health Risk Pathogenic Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS140909964 KIT Health Risk Conflicting classifications of pathogenicity Mastocytosis, Gastrointestinal stromal tumor
RS140911890 FGA Health Risk Pathogenic/Likely pathogenic FGA-related disorder, Familial dysfibrinogenemia
RS1409120511 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS1409123950 LPL Health Risk Likely pathogenic Hyperlipoproteinemia, type I
RS140912550 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS140913030 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Cardiovascular phenotype
RS140914434 RPS7 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 8, Diamond-Blackfan anemia
RS1409145798 SMAD6 Health Risk Conflicting classifications of pathogenicity Polydactyly, Radioulnar synostosis
RS140914855 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS140918123 CLDN14 Health Risk Conflicting classifications of pathogenicity CLDN14-related disorder, CLDN14-related disorder
RS1409184000 GTPBP2 Health Risk Pathogenic Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
RS140918583 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Intellectual disability
RS140918692 IL17RC Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS140918872 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS140919186 DHX16 Health Risk Conflicting classifications of pathogenicity DHX16-related disorder, Inborn genetic diseases
RS1409192667 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS140919432 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS140920079 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS140920120 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS1409234072 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS140923667 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS140923855 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1409239477 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140924492 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS140924661 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS140924757 CRAT Health Risk Conflicting classifications of pathogenicity —
RS140925165 KDM6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS140926412 GDF3 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS140926439 FN1 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Chronic kidney disease
RS140926445 FLNB Health Risk Conflicting classifications of pathogenicity —
RS1409265816 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1409267086 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS140927806 SCNN1B Health Risk Conflicting classifications of pathogenicity Liddle syndrome 1, Bronchiectasis with or without elevated sweat chloride 1
RS140927921 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS140927945 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS140928153 MCM2 Health Risk Conflicting classifications of pathogenicity —
RS140928266 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS140928439 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS1409285901 COX15 Health Risk Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS140929054 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS140929274 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 1, Warburg micro syndrome 1
RS1409294054 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS140929639 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 10
RS140930313 ITGB4 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 5A
RS140930365 AGER Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS1409309186 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS140930935 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS1409309832 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS140931431 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS140931492 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS140932222 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS140932886 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS140932942 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, KCTD7-related disorder
RS1409329871 CDT1 Health Risk Likely pathogenic Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4
RS1409334094 SLC26A3 Health Risk Pathogenic —
RS140934482 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Abnormal bleeding
RS140935012 TRNT1 Health Risk Conflicting classifications of pathogenicity Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases
RS140935840 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH8-related disorder
RS140936198 SUCLG1 Health Risk Conflicting classifications of pathogenicity —
RS140936491 CAV1 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS140936527 VPS13B Health Risk Pathogenic/Likely pathogenic Abnormality of the eye, Cohen syndrome
RS140936904 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity —
RS1409374479 ARHGEF9 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 8
RS1409376788 GREB1L Health Risk association Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
RS1409382717 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
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