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
RS1222429942 COL4A4 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS1222457762 FAM161A Health Risk Pathogenic —
RS1222471099 MEGF8 Health Risk Pathogenic/Likely pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS1222477746 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1222477763 KCNQ1 Health Risk Pathogenic —
RS1222522082 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS1222525763 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1222542759 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1222556174 CYP27B1 Health Risk Likely pathogenic Vitamin D-dependent rickets, type 1A
RS1222592143 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1222594800 NBAS Health Risk Pathogenic —
RS1222612723 SLC9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SLC9A3-related disorder
RS1222617235 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Retinoblastoma
RS1222620175 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Muscular dystrophy
RS1222622590 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1222628428 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1222631173 PRKCSH Health Risk Likely pathogenic Polycystic liver disease 1, Polycystic liver disease 1
RS1222634243 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1222674096 TPO Health Risk Pathogenic —
RS1222691058 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1222692405 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1222714681 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1222719732 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1222726216 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS1222759165 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1222774799 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1222778457 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1222795311 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1222795773 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS1222807128 SLC12A3 Health Risk Conflicting classifications of pathogenicity SLC12A3-related disorder, Familial hypokalemia-hypomagnesemia
RS1222851981 CERKL Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1222852478 FRAS1 Health Risk Likely pathogenic —
RS1222860434 RORA Health Risk Pathogenic —
RS1222896246 SPTB Health Risk Pathogenic —
RS1222900668 WFS1 Health Risk Likely pathogenic Diabetes mellitus, Diabetes mellitus
RS1222902525 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS1222912274 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1222920812 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1222939065 GFM1 Health Risk Pathogenic —
RS1222953554 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1222977459 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1222992251 CCDC88C Health Risk Pathogenic —
RS1223006535 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1223008559 COL3A1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1223030962 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1223038627 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1223047169 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1223055462 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS1223056056 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS1223061614 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1223065154 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS1223065368 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, Cardiovascular phenotype
RS1223068536 SLC4A10 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
RS1223073957 MED25 Health Risk Conflicting classifications of pathogenicity Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease type 2
RS1223081122 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1223104391 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1223110750 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1223135985 MBTPS1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia, kondo-fu type
RS1223142286 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1223142821 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Childhood hypophosphatasia
RS1223169999 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1223217246 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS1223233551 FOXC2 Health Risk Likely pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS1223247493 PIEZO1 Health Risk Conflicting classifications of pathogenicity Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS1223250924 DEPDC5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial focal epilepsy with variable foci
RS1223251937 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1223258366 OTOA Health Risk Pathogenic —
RS1223268225 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1223300626 CDAN1 Health Risk Pathogenic —
RS1223360265 SLC26A4 Health Risk Likely pathogenic —
RS1223368199 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1223371144 SATB2 Health Risk Pathogenic/Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1223395982 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1223406120 CHD5 Health Risk Pathogenic —
RS1223422347 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 3, von Willebrand disorder
RS1223430276 LZTR1 Health Risk Likely pathogenic Noonan syndrome 10, Noonan syndrome and Noonan-related syndrome
RS1223452979 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1223462735 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1223474344 TMEM127 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1223476227 LRP4 Health Risk Likely pathogenic Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS1223476490 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1223502060 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1223507970 COL4A3 Health Risk Conflicting classifications of pathogenicity —
RS1223508098 LOXHD1 Health Risk Pathogenic/Likely pathogenic —
RS1223512271 TECTA Health Risk Conflicting classifications of pathogenicity Meniere disease, Meniere disease
RS1223543367 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KMT2B-related disorder
RS1223558848 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS1223563812 IRF2BPL Health Risk Likely pathogenic —
RS1223584541 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1223585973 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS1223603416 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1223620783 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1223628431 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1223645705 VRK1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS1223656686 ADGRV1 Health Risk Likely pathogenic —
RS1223670390 ERCC6 Health Risk Pathogenic —
RS1223686470 NEK9 Health Risk Likely pathogenic —
RS1223692503 CELSR2 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS1223701129 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1223709952 CHRND Health Risk Pathogenic/Likely pathogenic Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3B
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