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
RS1235065739 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1235069213 NLRP5 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19
RS1235080486 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS1235097131 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Radioulnar synostosis
RS1235103571 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1235107432 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1235118844 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1235126935 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS1235142426 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS1235168823 ACD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dyskeratosis congenita
RS1235183015 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS1235198872 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1235227560 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS1235228377 TET2 Health Risk Pathogenic —
RS1235234848 PLCB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS1235245881 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1235253082 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1235258455 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS1235297746 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1235301663 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1235304713 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 4
RS1235319638 RFX5 Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS1235334324 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS1235350055 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS1235363221 KIF11 Health Risk Conflicting classifications of pathogenicity Microcephaly with or without chorioretinopathy, lymphedema
RS1235378407 CTNNA1 Health Risk Pathogenic —
RS1235379196 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1235397597 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1235398371 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1235403176 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1235428754 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS1235430504 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome type 2A
RS1235438710 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1235461740 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1235471739 PRKRA Health Risk Conflicting classifications of pathogenicity Dystonia 16, Dystonia 16
RS1235473172 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1235515288 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1235521190 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS1235521923 TMPRSS3 Health Risk Pathogenic —
RS1235530554 TMEM147 Health Risk Pathogenic Neurodevelopmental disorder with facial dysmorphism, absent language
RS1235556906 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy, Bethlem myopathy 2
RS1235560158 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1235562712 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1235572029 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS1235583687 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1235588816 ASXL3 Health Risk Conflicting classifications of pathogenicity Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1235589246 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1235653211 MOCS2 Health Risk Pathogenic —
RS1235656718 ORC1 Health Risk Pathogenic —
RS1235657856 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1235665641 SCN4A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Hyperkalemic periodic paralysis
RS1235685630 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1235693710 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1235695530 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation
RS1235706456 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1235711153 NDP Health Risk Likely pathogenic Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
RS1235719506 ADA Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS1235747033 PIEZO1 Health Risk Pathogenic —
RS1235749181 MSTO1 Health Risk Likely pathogenic See cases, See cases
RS1235751512 DIAPH1 Health Risk Pathogenic/Likely pathogenic Hearing impairment, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS1235770156 ADAMTS17 Health Risk Likely pathogenic —
RS1235771247 RANBP2 Health Risk Likely pathogenic Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS1235781420 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1235801428 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1235811820 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS1235835151 CLRN1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1235862680 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS1235872718 ADAMTS10 Health Risk Likely pathogenic Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS1235881190 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Retinitis pigmentosa 20
RS1235881238 ATP5ME;PDE6B Health Risk Likely pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS1235885918 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1235889026 SPTB Health Risk Pathogenic/Likely pathogenic Elliptocytosis 3, Elliptocytosis 3
RS1235902967 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS1235904433 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1235916533 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1235928280 CYP1B1 Health Risk Pathogenic/Likely pathogenic Anterior segment dysgenesis 6, Congenital glaucoma
RS1235928535 KIF7 Health Risk Pathogenic/Likely pathogenic Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS1235945505 SPG7 Health Risk Likely pathogenic —
RS1235953183 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1235958275 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1235993153 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1236009877 IFNGR1 Health Risk Likely pathogenic Immunodeficiency 27A, Immunodeficiency 27A
RS1236011780 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1236012815 PNPLA6 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1236038385 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1236041314 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1236045684 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1236050379 HMX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1236066548 PCNT Health Risk Pathogenic —
RS1236079340 BMP2 Health Risk Likely pathogenic Short stature, facial dysmorphism
RS1236095389 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1236122813 ASPH Health Risk Pathogenic Malignant hyperthermia of anesthesia, Malignant hyperthermia of anesthesia
RS1236159514 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1236159921 TDRD9 Health Risk Pathogenic —
RS1236179603 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1236182341 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1236188218 FRAS1 Health Risk Pathogenic —
RS1236195196 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1236199597 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1236207116 MYO7A Health Risk Pathogenic Usher syndrome, Usher syndrome type 1
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