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
RS1804568176 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1804617510 HGSNAT Health Risk Pathogenic Sanfilippo syndrome, Sanfilippo syndrome
RS1804688 NDUFS8 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1804692531 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS1804721948 PRKAG2 Health Risk Pathogenic Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart
RS1804723787 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS1804744616 CYP7B1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1804769861 HGSNAT Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 73, Retinitis pigmentosa 73
RS1804770574 ESCO2 Health Risk Pathogenic —
RS1804781641 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1804782152 HGSNAT Health Risk Likely pathogenic Retinitis pigmentosa 73, Retinitis pigmentosa 73
RS1804790650 ESCO2 Health Risk Pathogenic/Likely pathogenic Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome
RS1804799075 FOXP2 Health Risk Likely pathogenic —
RS1804799285 ESCO2 Health Risk Pathogenic —
RS1804800490 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1804800800 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1804802088 ESCO2 Health Risk Pathogenic —
RS1804802146 ESCO2 Health Risk Pathogenic —
RS1804802649 ESCO2 Health Risk Pathogenic —
RS1804804514 CHD7 Health Risk Pathogenic CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1804806714 ESCO2 Health Risk Pathogenic —
RS1804811181 ESCO2 Health Risk Pathogenic —
RS1804814100 ESCO2 Health Risk Conflicting classifications of pathogenicity Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome
RS1804819972 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1804841321 ARFGEF1 Health Risk Pathogenic Delayed speech and language development, Atypical behavior
RS1804892169 ESCO2 Health Risk Likely pathogenic Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS1804893340 ESCO2 Health Risk Pathogenic —
RS1804922106 FOXP2 Health Risk Pathogenic —
RS1804990594 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1804991326 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1804993220 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1804995748 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1805006 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS1805007 MC1R Health Risk Conflicting classifications of pathogenicity Skin/hair/eye pigmentation 2, red hair/fair skin
RS1805008 MC1R;TUBB3 Health Risk Conflicting classifications of pathogenicity Increased analgesia from kappa-opioid receptor agonist, female-specific
RS1805009 MC1R Health Risk Conflicting classifications of pathogenicity; risk factor Skin/hair/eye pigmentation 2, red hair/fair skin
RS1805031 CACNB4 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS1805032 CACNB4 Health Risk risk factor Epilepsy, juvenile myoclonic
RS1805069 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS1805076 PPP2R1B Health Risk Pathogenic Lung carcinoma, Lung carcinoma
RS1805082639 ESCO2 Health Risk Pathogenic —
RS1805083417 ESCO2 Health Risk Pathogenic —
RS1805090 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, AGT-related disorder
RS1805097 IRS2 Health Risk Benign; risk factor IRS2-related disorder, Type 2 diabetes mellitus
RS1805101 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS1805124855 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1805128 KCNE1 Health Risk Conflicting classifications of pathogenicity; other; risk factor Long QT syndrome 2/5, digenic
RS1805137 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS1805142 BEST1 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 2, Retinal dystrophy
RS1805142029 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1805143 BEST1;FTH1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Retinal dystrophy
RS1805143456 CHD7 Health Risk Pathogenic Scoliosis, isolated
RS1805144 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1805157634 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1805159 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1805160 XPA Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS1805177 CFTR Health Risk Pathogenic Bronchiectasis with or without elevated sweat chloride 1, modifier of
RS1805186461 ESCO2 Health Risk Pathogenic —
RS1805188732 ESCO2 Health Risk Pathogenic —
RS1805190 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Wolcott-Rallison dysplasia
RS1805253922 CYP7B1 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 3, Spastic paraplegia
RS1805300035 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1805303504 TTPA Health Risk Pathogenic —
RS1805310101 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1805310365 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1805311016 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1805318 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1805322 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1805323 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1805323000 DDHD2 Health Risk Pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS1805335711 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1805338299 CHD7 Health Risk Pathogenic CHARGE syndrome, Inborn genetic diseases
RS1805352418 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1805354 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1805354051 ARFGEF1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1805364 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS1805378 NTHL1 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS1805378816 ESCO2 Health Risk Pathogenic —
RS1805405695 CHD7 Health Risk Conflicting classifications of pathogenicity 3MC syndrome, CHARGE syndrome
RS1805413419 CYP7B1 Health Risk Pathogenic —
RS1805418179 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1805435464 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1805443015 CYP7B1 Health Risk Pathogenic —
RS1805486327 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1805491311 ESCO2 Health Risk Pathogenic —
RS1805501026 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1805504949 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1805505628 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1805506816 CHD7 Health Risk Pathogenic —
RS1805513214 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1805529214 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1805535866 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1805544418 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1805547113 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1805550477 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1805560892 CHD7 Health Risk Pathogenic —
RS1805566024 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, Inborn genetic diseases
RS1805570234 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1805571443 CHD7 Health Risk Likely pathogenic —
RS1805573066 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
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