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
RS1554657213 EXT1 Health Risk Pathogenic —
RS1554657437 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554657542 TG Health Risk Pathogenic —
RS1554657922 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1554657927 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554657940 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554658453 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS1554658492 TPM2 Health Risk Likely pathogenic —
RS1554658503 TPM2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS1554658504 TPM2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS1554658877 GNE Health Risk Pathogenic —
RS1554658910 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS1554658924 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS1554658955 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS1554658995 TPM2 Health Risk Likely pathogenic Arthrogryposis, distal
RS1554659545 TPM2 Health Risk Pathogenic —
RS1554659746 TPM2 Health Risk Likely pathogenic Inborn genetic diseases, Arthrogryposis
RS1554660090 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1554660803 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1554661030 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS1554661549 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS1554661552 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS1554661561 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1554661569 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1554661574 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS1554661582 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, GNE myopathy
RS1554661619 CDKN2B Health Risk Likely pathogenic Malignant tumor of breast, Malignant tumor of breast
RS1554662271 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS1554662408 PLAA Health Risk Pathogenic Neurodevelopmental disorder with progressive microcephaly, spasticity
RS1554662694 TG Health Risk Likely pathogenic —
RS1554662952 TJP2 Health Risk Pathogenic —
RS1554663295 GNE Health Risk Pathogenic GNE myopathy, GNE myopathy
RS1554663368 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS1554664043 GNE Health Risk Pathogenic —
RS1554664064 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS1554664090 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS1554664095 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS1554664711 APTX Health Risk Conflicting classifications of pathogenicity Ataxia, early-onset
RS1554664852 TJP2 Health Risk Pathogenic —
RS1554665974 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554666009 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554666513 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1554667607 TJP2 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1554668061 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1554668168 VCP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS1554668422 SPIDR Health Risk Pathogenic Ovarian dysgenesis 9, Ovarian dysgenesis 9
RS1554668805 VCP Health Risk Likely pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS1554668813 VCP Health Risk Pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS1554668814 VCP Health Risk Pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS1554668817 VCP Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1554668979 VCP Health Risk Conflicting classifications of pathogenicity Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS1554669087 VCP Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1554669297 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1554669592 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1554669770 ELN Health Risk Pathogenic/Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1554669774 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1554669800 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1554669910 NDUFAF6 Health Risk Conflicting classifications of pathogenicity Mitochondrial disease, Mitochondrial disease
RS1554669959 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex, Ogna type
RS1554671407 TOPORS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1554671692 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1554671979 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex, Ogna type
RS1554672011 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, PIGO-related disorder
RS1554672061 NPR2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554672587 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1554672602 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1554672893 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1554672911 PIGO Health Risk Pathogenic —
RS1554673485 NPR2 Health Risk Likely pathogenic —
RS1554673888 NPR2 Health Risk Likely pathogenic —
RS1554674544 PLEC Health Risk Likely pathogenic —
RS1554674642 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1554675388 PLEC Health Risk Likely pathogenic Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS1554676394 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1554676454 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1554678220 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1554678324 MPDZ Health Risk Likely pathogenic —
RS1554678568 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1554679415 KAT6A Health Risk Likely pathogenic —
RS1554679654 KAT6A Health Risk Likely pathogenic —
RS1554679726 KAT6A Health Risk Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1554679825 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1554679835 KAT6A Health Risk Pathogenic —
RS1554679889 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases
RS1554680113 KAT6A Health Risk Pathogenic —
RS1554680115 KAT6A Health Risk Pathogenic —
RS1554680188 KAT6A Health Risk Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1554680190 ELN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Supravalvar aortic stenosis
RS1554680245 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1554680267 KAT6A Health Risk Pathogenic —
RS1554680316 KAT6A Health Risk Pathogenic —
RS1554680840 KAT6A Health Risk Likely pathogenic —
RS1554680902 KAT6A Health Risk Pathogenic/Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1554681111 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1554681167 PLEC Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS1554681382 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1554681385 KAT6A Health Risk Likely pathogenic —
RS1554681651 SYNE1 Health Risk Pathogenic —
RS1554681801 TG Health Risk Pathogenic/Likely pathogenic —
RS1554682769 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
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