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
RS117987520 CYP11A1 Health Risk association Pulmonary disease, chronic obstructive
RS117987946 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1179885415 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1179891604 PYCR2 Health Risk Pathogenic —
RS117989731 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1179904078 NAA15 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 50
RS1179910122 SMN1 Health Risk Conflicting classifications of pathogenicity Spinal muscular atrophy, type II
RS1179912383 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS117991621 HAL Health Risk Conflicting classifications of pathogenicity Histidinemia, HAL-related disorder
RS1179926739 MYOD1 Health Risk Pathogenic Arthrogryposis multiplex congenita, Autosomal dominant centronuclear myopathy
RS1179931234 FRAS1 Health Risk Pathogenic —
RS1179935748 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1179938835 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1179941004 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1179947634 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS1179955071 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS117995705 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease
RS1179967153 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1179986943 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS11799886 MGST3 Health Risk association Pulmonary disease, chronic obstructive
RS117998880 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS1179991710 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1179995303 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS118000312 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia
RS1180015498 PDE6C Health Risk Pathogenic —
RS11800243 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS118004985 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1180053508 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1180060216 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1180079162 TRAPPC11 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1180096756 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS118010078 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1180104221 ARL13B Health Risk Pathogenic/Likely pathogenic Joubert syndrome 8, Joubert syndrome 8
RS1180107064 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1180118315 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1180119632 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1180119907 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1180126622 DCC Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1180127487 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1180133690 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1180135415 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1180154075 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1180157198 ERCC5 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1180158172 VPS13C Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS1180158800 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS1180179941 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1180199400 IFNAR1 Health Risk Likely pathogenic —
RS1180200867 LAMB2 Health Risk Pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS118020901 ZEB1 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Fuchs endothelial
RS118022241 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1180226091 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Intellectual disability
RS1180230428 TAF4 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal dominant 73
RS1180249151 MAP3K7 Health Risk Likely pathogenic Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2
RS1180267143 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS1180279387 ACTA1 Health Risk Likely pathogenic ACTA1-related disorder, ACTA1-related disorder
RS1180279498 OTOA Health Risk Pathogenic —
RS1180285291 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1180294322 PYCR1 Health Risk Likely pathogenic Autosomal recessive cutis laxa type 2B, Autosomal recessive cutis laxa type 2B
RS1180309541 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1180317009 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS118031911 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 1
RS1180339426 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1180352898 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS118037269 KIF1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic ataxia 2
RS1180377367 IPO8 Health Risk Likely pathogenic IPO8 related Connective tissue disorder, VISS syndrome
RS1180402350 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1180407562 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1180408059 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities
RS1180418350 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Cardiovascular phenotype
RS1180426748 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1180446025 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1180450281 CTSA Health Risk Pathogenic/Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS118047588 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 6 conditions
RS1180476377 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1180478434 ABCC6 Health Risk Pathogenic —
RS1180479579 TTC7A Health Risk Likely pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS1180488758 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS118049905 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS1180510096 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS1180511535 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1180515976 ALG1 Health Risk Likely pathogenic Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1180527322 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1180531129 CPAP Health Risk Pathogenic —
RS118053940 IDH2 Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 2, Enchondromatosis
RS1180551378 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS118056738 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS118057448 TCTN1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 13, Meckel-Gruber syndrome
RS1180591588 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1180594304 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1180600606 TRIM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
RS1180620404 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS1180628646 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS1180631656 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1180634449 SZT2 Health Risk Pathogenic —
RS1180642796 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS118064970 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS1180650883 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1180652454 CNNM4 Health Risk Likely pathogenic —
RS1180658535 CLCNKB Health Risk Pathogenic/Likely pathogenic Bartter disease type 3, Bartter disease type 4B
RS118066140 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
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