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
RS144615495 RLBP1 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy
RS1446157294 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS144615901 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Short QT syndrome type 2
RS144616312 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS144616352 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS1446166328 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS144616910 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Inborn genetic diseases
RS1446171264 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS144617793 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS144618536 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144618912 ANTXR2 Health Risk Conflicting classifications of pathogenicity Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS144619142 ATP11A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144620127 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS1446214240 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS1446221617 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS144622446 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS144622500 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1446227002 HSPG2 Health Risk Likely pathogenic —
RS144622748 RORB Health Risk Conflicting classifications of pathogenicity Seizure, Inborn genetic diseases
RS144623089 DCC Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS144624081 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS144624467 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1446257052 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS144626200 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS1446265434 BCL11A Health Risk Likely pathogenic BCL11A-related BAFopathy, BCL11A-related BAFopathy
RS1446265632 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS144626884 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS144627803 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS144628013 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS1446287900 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS144629123 CHST14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
RS1446298826 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS144630001 UPRT Health Risk Conflicting classifications of pathogenicity —
RS144630140 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1446306735 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS144630754 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS144631706 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS1446325480 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Familial dysautonomia
RS144633170 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
RS1446332510 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS144633592 PLK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144633924 USH1G Health Risk Conflicting classifications of pathogenicity —
RS144634077 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1446340815 STX11 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS144635712 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ectopia lentis 2
RS144635826 MKS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 13, Meckel syndrome
RS1446362214 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS144636413 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS144636562 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS144636654 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS144637286 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS144637479 CDH3 Health Risk Conflicting classifications of pathogenicity —
RS1446375255 USP26 Health Risk Pathogenic Spermatogenic failure, X-linked
RS144637662 IKZF1 Health Risk Conflicting classifications of pathogenicity —
RS144637717 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Seizure
RS144637923 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS144638389 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS1446388626 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Isolated focal cortical dysplasia type II
RS1446389693 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MMUT-related disorder
RS1446393665 WDR19 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1446399368 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS144639994 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1446406563 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1446408066 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS144640928 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS144641271 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS144641429 HCCS Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS144641995 RLBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1446427502 TRIP4 Health Risk Pathogenic/Likely pathogenic TRIP4-related disorder, TRIP4-related disorder
RS144643140 HR Health Risk Conflicting classifications of pathogenicity Alopecia universalis congenita, Atrichia with papular lesions
RS144644128 MOCOS Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Xanthinuria type II
RS1446446614 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS144644921 ZNF687 Health Risk Conflicting classifications of pathogenicity —
RS1446456295 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1446467099 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS144647048 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS144647126 RMND1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS144647258 TLR8 Health Risk Conflicting classifications of pathogenicity —
RS1446479156 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1446479503 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS144648002 RFX6 Health Risk Pathogenic Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
RS144648063 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, GLIS3-related disorder
RS144649934 DNAH9 Health Risk Pathogenic —
RS144650228 ROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1446505128 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS144651139 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS144651293 GSDME Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144651558 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS144651746 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS1446518998 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1446519890 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS144652516 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS144652675 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS144653284 NARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 24, Inborn genetic diseases
RS144653364 SCNN1G Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 3, Liddle syndrome 2
RS144653790 ABCA3 Health Risk Pathogenic/Likely pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS144653976 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS144654126 TNFRSF11B Health Risk Conflicting classifications of pathogenicity Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
RS144654282 DCLRE1C Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1446547358 EVC Health Risk Pathogenic/Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
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