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
RS768993431 TECTA Health Risk Likely pathogenic —
RS768993489 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS768994686 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal recessive
RS768995134 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS768996067 MSH3 Health Risk Likely pathogenic Familial adenomatous polyposis 4, Endometrial carcinoma
RS768997239 VPS53 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
RS768997704 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768998141 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768998301 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768999208 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS768999400 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS768999765 AFG3L2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS768999961 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS769000073 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS769000561 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS769000578 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769001387 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS769001939 LZTR1 Health Risk Conflicting classifications of pathogenicity LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome
RS769002624 GBA2 Health Risk Likely pathogenic Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46
RS769003090 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769003781 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS769005880 FKRP Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS769006603 PEPD Health Risk Pathogenic —
RS769007443 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 1
RS769007858 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, CLN5-related disorder
RS769008033 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS769008751 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS769008912 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS769009575 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS769010051 XPNPEP3 Health Risk Likely pathogenic Nephronophthisis-like nephropathy 1, Papillary renal cell carcinoma type 1
RS769011065 FXR1 Health Risk Pathogenic Myopathy, congenital proximal
RS769014945 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS769016969 MYO15A Health Risk Pathogenic —
RS769017108 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS769017434 ARMC5 Health Risk Likely pathogenic Macronodular adrenal hyperplasia, Macronodular adrenal hyperplasia
RS769017508 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS769017713 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS769018733 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia type I
RS769020799 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS769021352 MYO5A Health Risk Pathogenic Griscelli syndrome type 1, Griscelli syndrome type 1
RS769021800 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS769021943 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS769022411 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS769022521 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS769023413 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS769023482 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS769023704 PIGV Health Risk Conflicting classifications of pathogenicity —
RS769024926 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS769026153 GPI Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS769027529 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Microcephaly and chorioretinopathy 1, Inborn genetic diseases
RS769028262 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS769028878 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769029578 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS769029919 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS769030725 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS769031989 STAT3 Health Risk Conflicting classifications of pathogenicity STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS769032973 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS769034192 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS769034963 HPDL Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS769035379 RDH5 Health Risk Pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS769035394 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS769035623 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS769036698 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS769036891 CWF19L1 Health Risk Likely pathogenic —
RS769037441 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS769039082 CFAP410 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS769039987 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS769040084 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS769040794 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS769042038 TGM6 Health Risk Conflicting classifications of pathogenicity —
RS769042062 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769045045 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS769045618 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS769046350 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS769046407 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS769047012 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS769047348 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS769047475 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS769047790 PLA2G6 Health Risk Pathogenic/Likely pathogenic PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS769047841 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS769048174 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS769048538 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS769051998 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS769052041 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS769052540 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS769052639 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS769053076 KLHL7 Health Risk Pathogenic PERCHING syndrome, PERCHING syndrome
RS769053704 CLCNKB Health Risk Likely pathogenic —
RS769053787 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS769054351 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS769054713 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, DNAH5-related disorder
RS769056716 PUM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia 47
RS769056840 ARHGEF18 Health Risk Pathogenic —
RS769058088 NEK8 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS76905919 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS769061128 PIGA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS769061467 LTBP3 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases
RS769061510 FGFR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pfeiffer syndrome
RS769061878 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS769063859 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
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