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
RS1944464234 HYOU1 Health Risk Pathogenic Granulocytopenia with immunoglobulin abnormality, Granulocytopenia with immunoglobulin abnormality
RS1944531613 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS1944560174 ABCC9 Health Risk Likely pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
RS1944570170 PUS3 Health Risk Pathogenic/Likely pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
RS1944619636 HYOU1 Health Risk Pathogenic Granulocytopenia with immunoglobulin abnormality, Granulocytopenia with immunoglobulin abnormality
RS1944636041 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS1944637150 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Odonto-onycho-dermal dysplasia
RS1944671082 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS1944671913 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS1944675271 WNT10A Health Risk Likely pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS1944678383 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS1944690574 KDM5A Health Risk Pathogenic —
RS1944749671 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1944765423 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS1944784722 DYNC2H1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1944933634 DDX11 Health Risk Pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS1944946235 LRRK2 Health Risk Conflicting classifications of pathogenicity Parkinson disease, Parkinson disease
RS1945141397 MPDZ Health Risk Likely pathogenic —
RS1945174737 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B
RS1945272232 DYNC2H1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Jeune thoracic dystrophy
RS1945274080 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1945285043 BSCL2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1945288336 VDR Health Risk Pathogenic —
RS1945289474 BSCL2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1945307391 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1945308147 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS1945310324 SERPING1 Health Risk Likely pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1945329402 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1945331796 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1945336251 EPS8 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 102, Autosomal recessive nonsyndromic hearing loss 102
RS1945353409 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1945375812 EHMT1 Health Risk Pathogenic Intellectual disability, Kleefstra syndrome 1
RS1945380233 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1945385727 ALG13 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Developmental and epileptic encephalopathy
RS1945389965 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1945392174 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1945399452 EHMT1 Health Risk Likely pathogenic —
RS1945400235 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy
RS1945404833 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1945410259 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1945411643 SERPING1 Health Risk Likely pathogenic —
RS1945411910 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, SERPING1-related disorder
RS1945416520 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1945427535 VWF Health Risk Likely pathogenic —
RS1945475029 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS1945477588 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS1945480228 SERPING1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1945480328 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema with C1Inh deficiency
RS1945481508 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1945512818 SERPING1 Health Risk Pathogenic —
RS1945516584 SERPING1 Health Risk Likely pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS1945516624 SERPING1 Health Risk Likely pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS1945518132 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1945585636 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1945617407 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1945698201 EPS8 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 102, Autosomal recessive nonsyndromic hearing loss 102
RS1945710855 EED Health Risk Pathogenic/Likely pathogenic Cohen-Gibson syndrome, Cohen-Gibson syndrome
RS1945764912 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1945766589 POMT1 Health Risk Pathogenic Dysgenesis of the cerebellar vermis, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS1945770086 POMT1 Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1945782278 POMT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS1945826884 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1945827957 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1945853889 CLP1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 10, Pontocerebellar hypoplasia type 10
RS1945978807 NDUFA9 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 26
RS1946077078 VDR Health Risk Likely pathogenic —
RS1946102978 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1946167244 HMBS Health Risk Pathogenic —
RS1946168990 HMBS Health Risk Pathogenic/Likely pathogenic —
RS1946169082 HMBS Health Risk Likely pathogenic —
RS1946174360 HMBS Health Risk Likely pathogenic —
RS1946174844 HMBS Health Risk Pathogenic Leukoencephalopathy, porphyria-related
RS1946187914 HMBS Health Risk Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1946240450 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS1946240617 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS1946241537 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS1946243211 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS1946261580 ROBO3 Health Risk Pathogenic/Likely pathogenic Gaze palsy, familial horizontal
RS1946283724 HMBS Health Risk Pathogenic —
RS1946295991 HMBS Health Risk Likely pathogenic —
RS1946296237 HMBS Health Risk Pathogenic —
RS1946297931 DDX11 Health Risk Pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS1946299495 HMBS Health Risk Pathogenic —
RS1946299628 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS1946311947 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS1946317952 HMBS Health Risk Pathogenic/Likely pathogenic Acute intermittent porphyria, HMBS-related disorder
RS1946318239 HMBS Health Risk Conflicting classifications of pathogenicity —
RS1946325014 HMBS Health Risk Pathogenic —
RS1946325053 HMBS Health Risk Pathogenic/Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1946327824 HMBS Health Risk Pathogenic —
RS1946347156 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS1946353272 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS1946357179 ETV6 Health Risk Likely pathogenic Thrombocytopenia, Abnormal bleeding
RS1946370497 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS1946397259 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS1946406410 DPAGT1 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1946445537 FERMT3 Health Risk Likely pathogenic Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS1946470902 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS1946484568 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1946485389 DPAGT1 Health Risk Likely pathogenic Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13
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