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
RS782567454 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782569979 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782570540 ADAMTS13 Health Risk Pathogenic —
RS782571710 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782571753 TSPEAR Health Risk Conflicting classifications of pathogenicity —
RS782571969 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782572328 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS782572582 LAGE3 Health Risk Conflicting classifications of pathogenicity LAGE3-related disorder, LAGE3-related disorder
RS782573219 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782573475 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Inborn genetic diseases
RS782574376 BCAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782574426 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782574616 RBP3 Health Risk Pathogenic Retinitis pigmentosa 66, Retinitis pigmentosa 66
RS782575307 TUBB8 Health Risk Pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS782575471 DGAT1 Health Risk Conflicting classifications of pathogenicity —
RS782575778 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782576450 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS782576893 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, X-linked
RS782577519 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS782577883 DGAT1 Health Risk Pathogenic/Likely pathogenic Congenital diarrhea 7 with exudative enteropathy, See cases
RS78257946 FGG Health Risk Conflicting classifications of pathogenicity Hypofibrinogenemia, Familial dysfibrinogenemia
RS782579716 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782580208 GJA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS782580317 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782580568 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782581005 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782581701 CACNA1F Health Risk Pathogenic Congenital stationary night blindness 2A, Cone-rod dystrophy
RS782583311 ATP1A3 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12
RS782583650 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS782584192 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS782584396 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity —
RS782584950 WAS Health Risk Conflicting classifications of pathogenicity WAS-related disorder, X-linked severe congenital neutropenia
RS782585415 GTF2IRD1 Health Risk Conflicting classifications of pathogenicity —
RS782585525 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782588770 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS782588855 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782588986 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782590037 HJV Health Risk Pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS782590255 KATNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782590380 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782591917 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782592052 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS782592443 GJA5 Health Risk Conflicting classifications of pathogenicity Atrial standstill 1, Atrial fibrillation
RS782592963 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782593341 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782593788 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782595156 TSPEAR Health Risk Pathogenic —
RS782596223 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS782596670 WAS Health Risk Conflicting classifications of pathogenicity Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS782596945 ATP2B3 Health Risk Likely pathogenic 8 conditions, X-linked progressive cerebellar ataxia
RS782597157 PDE4DIP Health Risk Pathogenic See cases, See cases
RS782597397 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS78259781 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782598150 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS782598234 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782598355 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, DKC1-related disorder
RS782598729 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS782598895 NOTCH2 Health Risk Pathogenic KA-like vemurafenib-induced squamous lesions, KA-like vemurafenib-induced squamous lesions
RS782598897 MYO7A Health Risk Pathogenic/Likely pathogenic —
RS782598922 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS782598962 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS782600450 PLS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782600511 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS782601312 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS782601647 AVPR2 Health Risk Pathogenic/Likely pathogenic Diabetes insipidus, nephrogenic
RS782602470 PLXNA3 Health Risk Conflicting classifications of pathogenicity PLXNA3-related disorder, PLXNA3-related disorder
RS782602857 WAS Health Risk Conflicting classifications of pathogenicity Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS782603062 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, ABCD1-related disorder
RS782603364 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS782603932 TTC12 Health Risk Pathogenic Ciliary dyskinesia, primary
RS782604159 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Inborn genetic diseases
RS782604399 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS782604431 IKBKG Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 1, Inborn genetic diseases
RS782604758 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS782605085 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782605190 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Heterotopia
RS782605503 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782606119 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS782606354 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS782606567 ATP6AP1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 47, Immunodeficiency 47
RS782607566 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS782608284 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS782608859 AVPR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Diabetes insipidus
RS782608984 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS782609482 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS782609666 IQSEC2 Health Risk Conflicting classifications of pathogenicity IQSEC2-related disorder, Intellectual disability
RS782611953 FLNA Health Risk Conflicting classifications of pathogenicity FLNA-related disorder, Familial thoracic aortic aneurysm and aortic dissection
RS782612223 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Phosphate transport defect
RS782612523 PRKCD Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS782613055 MMP13 Health Risk Likely pathogenic —
RS782613115 C1S Health Risk Pathogenic —
RS782613338 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782614096 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782614169 KDM5C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS782614599 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, SURF1-related disorder
RS782614645 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS782615259 GPAA1 Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 15, GPAA1-related disorder
RS782615469 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS782616685 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS782616912 H2BW2 Health Risk Conflicting classifications of pathogenicity —
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