SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS941732827 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS941739314 LPIN1 Health Risk Pathogenic —
RS941748424 NDUFA11 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS941763104 GRIN2B Health Risk Likely pathogenic —
RS941766411 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS941830625 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS941893164 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS941905630 FKRP Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS941967928 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS941969577 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS942019524 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS942040362 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia
RS942055234 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS942089643 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS942158624 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Malignant tumor of esophagus
RS942245024 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS942299870 GUF1 Health Risk Conflicting classifications of pathogenicity —
RS942316220 FAM13A Health Risk association Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
RS942323517 NPHS1 Health Risk Pathogenic —
RS942326584 DDX3X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 102
RS942355738 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS942375725 ITGB2 Health Risk Pathogenic —
RS942376359 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS942393807 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS942394169 DNHD1 Health Risk Pathogenic —
RS942432213 NUP107 Health Risk Likely pathogenic —
RS942479447 ESCO2 Health Risk Pathogenic —
RS942483537 VPS13B Health Risk Pathogenic Cohen syndrome, VPS13B-related disorder
RS942486247 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS942498680 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS942517034 GRM6 Health Risk Pathogenic —
RS942522644 SCYL1 Health Risk Pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS942538351 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS942541730 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS942543259 SCO2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS942550749 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS942559171 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS942584750 USH2A Health Risk Pathogenic —
RS942590430 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS942647950 GIPC3 Health Risk Conflicting classifications of pathogenicity —
RS942669152 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS942694907 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS942714779 PIGB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS942734318 ABCA4 Health Risk Conflicting classifications of pathogenicity Stargardt disease, Stargardt disease
RS942740771 SPG7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 7
RS942756021 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS942758928 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS942768771 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS942793250 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram-like syndrome, Wolfram-like syndrome
RS942815730 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS942848385 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS942861981 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS942862410 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS942884617 CDKL5 Health Risk Conflicting classifications of pathogenicity —
RS942901561 POC1B Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 20, Cone-rod dystrophy 20
RS942909873 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Thrombophilia
RS942911563 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS942925965 PCNT Health Risk Conflicting classifications of pathogenicity —
RS942940725 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS942951418 PLPBP Health Risk Conflicting classifications of pathogenicity Epilepsy, early-onset
RS942967963 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS942972881 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS943009372 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS943024318 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Acromelic frontonasal dysostosis
RS943046481 ACADSB Health Risk Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS943094444 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS943207232 SYNE1 Health Risk Likely pathogenic —
RS943211778 CDK10 Health Risk Pathogenic Al Kaissi syndrome, Al Kaissi syndrome
RS943232433 SIAE Health Risk Conflicting classifications of pathogenicity —
RS943235103 SLC39A7 Health Risk Conflicting classifications of pathogenicity —
RS943280773 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS943295842 OGT Health Risk Pathogenic Intellectual disability, X-linked 106
RS943305771 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS943314733 CNGA3 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS943335449 AGXT Health Risk Pathogenic —
RS943339467 KLHL7 Health Risk Pathogenic PERCHING syndrome, Inborn genetic diseases
RS943370469 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS943374156 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS943407609 ARID1B Health Risk Pathogenic Inborn genetic diseases, Coffin-Siris syndrome 1
RS943430432 FERMT1 Health Risk Likely pathogenic —
RS943468139 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS943486107 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS943532734 LIFR Health Risk Pathogenic —
RS943576519 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS943621505 CTNS Health Risk Conflicting classifications of pathogenicity See cases, Ocular cystinosis
RS943635209 TONSL Health Risk Likely pathogenic —
RS943659663 UBE3A Health Risk Conflicting classifications of pathogenicity Angelman syndrome, Inborn genetic diseases
RS943663200 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS943671314 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 35
RS943680446 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS943690439 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS943715197 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS943749481 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS943777958 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS943784682 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS943801800 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group B, VACTERL association
RS943810223 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS943824159 AGTPBP1 Health Risk Pathogenic Global developmental delay, Aplasia/Hypoplasia of the cerebellum
RS943838033 COL5A1 Health Risk Conflicting classifications of pathogenicity Aortic dilatation, Ehlers-Danlos syndrome
RS943865463 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
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