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
RS781982717 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS781984274 FLNA Health Risk Conflicting classifications of pathogenicity 9 conditions, Familial thoracic aortic aneurysm and aortic dissection
RS781984305 DGAT1 Health Risk Likely pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS781984348 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS781984385 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS781984979 PEX11B Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B
RS781985768 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781985780 RBP3 Health Risk Pathogenic —
RS781985978 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS781986018 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781986219 TAFAZZIN Health Risk Conflicting classifications of pathogenicity Endocardial fibroelastosis, 3-Methylglutaconic aciduria type 2
RS781986464 PLEC Health Risk Conflicting classifications of pathogenicity 6 conditions, Epidermolysis bullosa simplex 5C
RS781986930 CCN6 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Progressive pseudorheumatoid dysplasia
RS781987043 PQBP1 Health Risk Conflicting classifications of pathogenicity —
RS781987881 SPIDR Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS781988041 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781988346 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS781988557 MYO7A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 11
RS781988728 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS781989117 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Hearing loss
RS781989280 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781991255 AVPR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nephrogenic syndrome of inappropriate antidiuresis
RS781991355 DLAT Health Risk Pathogenic Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS781991817 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS781992822 CCDC22 Health Risk Conflicting classifications of pathogenicity —
RS781992894 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS781993401 HUWE1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked syndromic
RS781994403 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781994662 TSPEAR Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 98, Ectodermal dysplasia 14
RS781995666 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781996509 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS781996624 AVPR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nephrogenic syndrome of inappropriate antidiuresis
RS781996962 SLC39A4 Health Risk Pathogenic —
RS781997631 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS781997687 VPS45 Health Risk Conflicting classifications of pathogenicity Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
RS781997708 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781998103 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781998354 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS781998738 RBM10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS78199895 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS781998959 WDR45 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS781999109 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS781999115 HYAL2 Health Risk Pathogenic/Likely pathogenic HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome
RS781999758 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782000647 MYO7A Health Risk Likely pathogenic —
RS782002895 SLC39A4 Health Risk Pathogenic —
RS782004000 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS782004592 POLG2 Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
RS782006396 POLG2 Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
RS782006425 CYP2R1 Health Risk Pathogenic —
RS782006661 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS782006734 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782007408 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS78200745 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS782007706 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS782007828 SURF1 Health Risk Pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS782009073 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS782009811 DLAT Health Risk Likely pathogenic —
RS782010351 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS782010359 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782010606 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782010849 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1JJ
RS782011714 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS782012546 GATA1 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS782012594 SMC1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital muscular hypertrophy-cerebral syndrome
RS782013294 TSPEAR Health Risk Pathogenic —
RS782014879 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS782015028 PQBP1 Health Risk Conflicting classifications of pathogenicity Renpenning syndrome, Thyroid cancer
RS782016209 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS782018054 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Frontometaphyseal dysplasia
RS782019600 F8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782019621 LAGE3 Health Risk Conflicting classifications of pathogenicity Galloway-Mowat syndrome 2, X-linked
RS782019909 AFF2 Health Risk Likely pathogenic —
RS782020198 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782021157 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS782021409 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases
RS782021521 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS782021744 FKBP10 Health Risk Pathogenic —
RS782022102 FSCN2 Health Risk Conflicting classifications of pathogenicity —
RS782023240 FAM83H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782023308 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS782024141 POR Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782024317 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Melnick-Needles syndrome
RS782024654 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Inborn genetic diseases
RS782025071 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782025333 HJV Health Risk Pathogenic —
RS782026056 C1S Health Risk Conflicting classifications of pathogenicity —
RS782026068 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782026169 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS782026566 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782028471 SLC6A8 Health Risk Conflicting classifications of pathogenicity Creatine transporter deficiency, Creatine deficiency syndrome 1
RS782028739 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782029228 DLAT Health Risk Pathogenic Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS782031668 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782031818 CLCN5 Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS782032018 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS78203228 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS782033629 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782034481 CACNA1F Health Risk Pathogenic Congenital stationary night blindness 2A, Thyroid cancer
RS782035827 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
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