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
RS782420124 WAS Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS782420127 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS782420258 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS782420335 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782420340 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782420395 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS782420522 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS782420668 DGAT1 Health Risk Conflicting classifications of pathogenicity Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS782422954 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782423036 HUWE1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked syndromic
RS782424035 C12orf57 Health Risk Pathogenic Temtamy syndrome, Temtamy syndrome
RS782424160 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782424595 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2
RS782424820 CYBB Health Risk Likely pathogenic —
RS782425291 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782426227 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Melanoma
RS782426237 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS782426283 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782426400 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS782426472 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, MYO7A-related disorder
RS782427465 TSPEAR Health Risk Likely pathogenic —
RS782427910 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782428216 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS782428224 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Autosomal dominant nonsyndromic hearing loss 11
RS782428636 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782428979 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS782429199 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS78242949 SLC14A1 Health Risk Pathogenic Jk-null variant, finnish type
RS782430567 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782431871 HJV Health Risk Pathogenic —
RS782431885 VPS45 Health Risk Conflicting classifications of pathogenicity Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Inborn genetic diseases
RS782432573 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS782433037 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS782434042 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS782434053 SLC39A4 Health Risk Pathogenic —
RS782434498 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782435454 C12orf57 Health Risk Pathogenic Temtamy syndrome, Temtamy syndrome
RS782437393 SURF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS782437578 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782438210 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782439081 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS782439290 PLEC Health Risk Conflicting classifications of pathogenicity 6 conditions, Epidermolysis bullosa simplex 5C
RS782439813 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782439900 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782440714 RBM10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hearing impairment
RS782442429 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782442966 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS782444523 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS78244461 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS782444829 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS782445206 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS782445506 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782445995 FLNA Health Risk Conflicting classifications of pathogenicity 9 conditions, Frontometaphyseal dysplasia
RS782446150 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HUWE1-related disorder
RS782447567 FLNA Health Risk Conflicting classifications of pathogenicity 9 conditions, Frontometaphyseal dysplasia
RS782447902 PACS2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 66
RS782449192 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS782449715 BGN Health Risk Pathogenic —
RS782449768 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782449839 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS782450077 CCN6 Health Risk Pathogenic —
RS782450368 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782450420 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782450868 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782451202 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782451569 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS782451807 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS782451966 KMT2A Health Risk Pathogenic —
RS782452523 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, EMD-related disorder
RS782453258 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases
RS782453913 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Inborn genetic diseases
RS782454131 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS782454177 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782454198 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782454483 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS782455321 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS782455598 RBP3 Health Risk Conflicting classifications of pathogenicity RBP3-related disorder, Retinal dystrophy
RS782455914 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS782457908 RRAS2 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome 12
RS782458397 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS782458440 F8 Health Risk Pathogenic —
RS782459118 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782459304 USP27X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782459395 CYP2R1 Health Risk Pathogenic/Likely pathogenic Vitamin D hydroxylation-deficient rickets, type 1B
RS782459694 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782460038 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS782460301 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782460555 JUP Health Risk Pathogenic Naxos disease, Naxos disease
RS782460882 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Inborn genetic diseases
RS782460936 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS782461418 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS782461594 SF3B4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782463303 RBP3 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS782463588 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS782463803 DNAJC30 Health Risk Pathogenic Leber-like hereditary optic neuropathy, autosomal recessive 1
RS782463983 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS78246426 VIPAS39 Health Risk Conflicting classifications of pathogenicity VIPAS39-related disorder, Inborn genetic diseases
RS782464602 MAGED1 Health Risk Conflicting classifications of pathogenicity —
RS782464678 ALG9 Health Risk Pathogenic Polycystic kidney disease, adult type
RS782465797 CHAMP1 Health Risk Pathogenic CHAMP1-related syndrome, CHAMP1-related syndrome
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