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
RS782370134 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782370155 ACTG1 Health Risk Conflicting classifications of pathogenicity Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
RS782370364 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782370709 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 12
RS782371096 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782371346 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782371726 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782371735 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782371876 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782372397 ALG9 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9-related disorder
RS782372740 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Heterotopia
RS782372843 CAPN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782373145 ABCD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Adrenoleukodystrophy
RS782373336 ARCN1 Health Risk Pathogenic —
RS782373344 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS782373978 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS782375893 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782376231 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782376709 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
RS782377500 LRCH2;RBMXL3 Health Risk Conflicting classifications of pathogenicity —
RS782377649 HDAC8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 5
RS782377686 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782377881 FOXP3 Health Risk Likely pathogenic —
RS782378031 ATP6V1B1 Health Risk Likely pathogenic —
RS782378476 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1JJ
RS782378494 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS782378503 TTC12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS782379446 ALG9 Health Risk Pathogenic/Likely pathogenic ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome
RS782379521 BMP15 Health Risk Pathogenic Ovarian dysgenesis 2, Ovarian dysgenesis 2
RS782380080 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782381563 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS782381723 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782382389 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782382496 PLEC Health Risk Conflicting classifications of pathogenicity —
RS782383611 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS782385471 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS782385961 HCFC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria
RS782386455 HJV Health Risk Pathogenic —
RS782387061 RP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782387123 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782388435 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS782388951 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS782390251 FLNA Health Risk Conflicting classifications of pathogenicity —
RS782390271 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS782390597 PRPF3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782391479 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782391508 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782392215 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS78239264 CNGB3 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Achromatopsia 3
RS782393002 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS782393027 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782393234 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS782395275 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782395522 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS782395967 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782396558 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782396605 MYO7A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS782396701 PHF8 Health Risk Conflicting classifications of pathogenicity —
RS782397500 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782397746 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS782397974 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS782397980 CHAMP1;LINC01054 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS782398727 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS782400832 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782401662 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Inborn genetic diseases
RS782402689 RP2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782403025 FGF3 Health Risk Conflicting classifications of pathogenicity —
RS782404246 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, Cardiovascular phenotype
RS782405164 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS782405999 KDM5C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS782406063 IKBKG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782406278 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782407414 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS782407440 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782408477 MDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS782409511 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782409603 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782409632 TRRAP Health Risk Conflicting classifications of pathogenicity TRRAP-related disorder, TRRAP-related disorder
RS782410042 ATP6AP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782410327 ESX1 Health Risk Conflicting classifications of pathogenicity —
RS782410389 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Inborn genetic diseases
RS782410402 ATRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
RS782410686 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS782411248 AFF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782412083 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782412141 FLNA Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Melnick-Needles syndrome
RS782412271 TSPEAR Health Risk Pathogenic/Likely pathogenic Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS782412366 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS782413408 NAA10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782413552 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Syndromic X-linked intellectual disability Claes-Jensen type
RS782414995 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS782415042 WAS Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Thrombocytopenia 1
RS782416820 G6PD Health Risk Conflicting classifications of pathogenicity G6PD deficiency, Anemia
RS782416867 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, VEXAS
RS782417364 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS782418880 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782419107 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS782419323 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782419414 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Syndromic X-linked intellectual disability Lubs type
RS782419777 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
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