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
RS142007602 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1420078244 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS142007879 TECTA Health Risk Conflicting classifications of pathogenicity —
RS142008002 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS142008044 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS142008398 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS142009291 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, Left ventricular noncompaction 1
RS142010751 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1420107550 STARD9 Health Risk Conflicting classifications of pathogenicity —
RS1420109925 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS142011043 KIFBP Health Risk Conflicting classifications of pathogenicity Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS142012270 FREM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Isolated cryptophthalmia
RS142012387 PRF1 Health Risk Conflicting classifications of pathogenicity —
RS142012621 IGF2 Health Risk Likely pathogenic Inborn genetic diseases, Silver-Russell syndrome 3
RS1420128252 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS142013283 ATP6AP2 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Hedera type, X-linked parkinsonism-spasticity syndrome
RS1420137773 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1420141860 LTBP2 Health Risk Pathogenic —
RS142014480 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Inborn genetic diseases
RS1420151470 ERCC2 Health Risk Pathogenic —
RS142015707 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1420159591 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Cardiomyopathy
RS142016609 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142016718 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS142016804 LMNB1 Health Risk Conflicting classifications of pathogenicity Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant demyelinating leukodystrophy
RS142017360 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS1420175816 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS142018195 COQ8B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142018583 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS142019309 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS142019870 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS142020270 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS142021049 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related Meckel-like syndrome
RS142021066 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS1420211177 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1420217487 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS142022626 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Jeune thoracic dystrophy
RS142023538 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS142023792 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS1420243208 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS142024534 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS142025193 FRMPD4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 104
RS142025324 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome
RS142025489 FERMT3 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS142027093 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1420274633 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142027515 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS142027562 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS1420275854 TCTN1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1420280878 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS142028110 TTN Health Risk Conflicting classifications of pathogenicity —
RS1420285326 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS142029189 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS1420292012 SHH Health Risk Likely pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS142029636 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS142030262 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter disease type 2
RS1420307327 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS142030898 TBK1 Health Risk Pathogenic; other Motor neuron disease, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS142031266 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS1420315178 TPP1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2
RS1420316004 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1420321267 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1420322445 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1420326474 RNF216 Health Risk Likely pathogenic —
RS142033335 VPS13D Health Risk Conflicting classifications of pathogenicity —
RS142033533 PER2 Health Risk Conflicting classifications of pathogenicity —
RS142034230 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
RS1420347614 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1420354168 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS142036266 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS142036299 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2
RS142036463 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS1420368113 PLA2G7 Health Risk Likely pathogenic Platelet-activating factor acetylhydrolase deficiency, Platelet-activating factor acetylhydrolase deficiency
RS142036980 LIPC Health Risk Conflicting classifications of pathogenicity Hyperlipidemia due to hepatic triglyceride lipase deficiency, Type 2 diabetes mellitus
RS142037029 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS142037381 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS142037771 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Hereditary spastic paraplegia
RS142037828 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, ABCG5-related disorder
RS142038079 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Inborn genetic diseases
RS1420382294 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS142038240 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, RECON progeroid syndrome
RS1420388292 CACNA1S Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypokalemic periodic paralysis
RS1420394583 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS1420397443 GPT2 Health Risk Pathogenic Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
RS1420399110 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS142040264 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS142040996 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1420414097 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS142041428 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1420414848 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS142041722 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1420420542 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1420427521 COL1A1 Health Risk Pathogenic —
RS1420431000 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS142043309 TRPM6 Health Risk Conflicting classifications of pathogenicity TRPM6-related disorder, Inborn genetic diseases
RS1420441572 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1420447960 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS142045411 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS142046308 POU1F1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS142046356 GALNT2 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type iit
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