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
RS786205068 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy
RS786205069 BSCL2 Health Risk Pathogenic Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy
RS786205070 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy
RS786205071 BSCL2 Health Risk Pathogenic Congenital generalized lipodystrophy type 2, Neuronopathy
RS786205073 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy
RS786205074 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS786205076 TCAP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G, Primary familial hypertrophic cardiomyopathy
RS786205077 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS786205078 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS786205080 TSHR Health Risk Likely pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS786205081 DYSF Health Risk Pathogenic Distal myopathy with anterior tibial onset, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS786205082 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS786205083 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS786205084 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS786205085 ADAM9 Health Risk Pathogenic Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS786205086 ADAM9 Health Risk Pathogenic Cone-rod dystrophy 9, Cone-rod dystrophy
RS786205087 PMP22 Health Risk Pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
RS786205088 HADHA Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS786205089 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS786205090 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS786205091 F7 Health Risk Pathogenic Factor VII deficiency, Congenital factor VII deficiency
RS786205092 BPGM Health Risk Pathogenic Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase
RS786205093 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS786205094 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS786205095 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS786205096 GGCX Health Risk Pathogenic Vitamin K-dependent clotting factors, combined deficiency of
RS786205097 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS786205098 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS786205099 POR Health Risk Pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS786205100 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS786205101 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS786205102 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS786205103 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS786205104 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS786205105 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10
RS786205106 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS786205107 CYP19A1 Health Risk Pathogenic Aromatase deficiency, Aromatase deficiency
RS786205108 CYP19A1 Health Risk Pathogenic Aromatase deficiency, Aromatase deficiency
RS786205109 CYP19A1 Health Risk Pathogenic Aromatase deficiency, Aromatase deficiency
RS786205110 CYP19A1 Health Risk Pathogenic Aromatase deficiency, Aromatase deficiency
RS786205111 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease
RS786205113 TRPM1 Health Risk Pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS786205114 WDR19 Health Risk Pathogenic Nephronophthisis 13, Nephronophthisis 13
RS786205115 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS786205116 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS786205117 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS786205118 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS786205119 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS786205120 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS786205121 KCNV2 Health Risk Pathogenic Cone dystrophy with supernormal rod response, Retinal dystrophy
RS786205122 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS786205123 ZMPSTE24 Health Risk Pathogenic Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome
RS786205124 ROGDI Health Risk Pathogenic/Likely pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS786205126 TMEM67 Health Risk Pathogenic Meckel syndrome, type 3
RS786205127 LRPAP1 Health Risk Pathogenic Myopia 23, autosomal recessive
RS786205129 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Intellectual disability
RS786205133 RLIM Health Risk Pathogenic Non-syndromic X-linked intellectual disability, Intellectual disability
RS786205134 ALG9 Health Risk Conflicting classifications of pathogenicity Gillessen-Kaesbach-Nishimura syndrome, Gillessen-Kaesbach-Nishimura dysplasia
RS786205135 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS786205137 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS786205138 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS786205139 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS786205140 CAST Health Risk Pathogenic Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome, Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
RS786205141 CAST Health Risk Pathogenic Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome, Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
RS786205142 SIX6 Health Risk Likely pathogenic Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
RS786205143 DPP6 Health Risk Pathogenic Intellectual disability, autosomal dominant 33
RS786205144 ACTN2 Health Risk Likely pathogenic Dilated cardiomyopathy 1AA, Cardiovascular phenotype
RS786205145 SDHA Health Risk Likely pathogenic Carney triad, Carney triad
RS786205146 SDHC Health Risk Pathogenic Carney triad, Hereditary cancer-predisposing syndrome
RS786205147 SDHC Health Risk Pathogenic/Likely pathogenic Carney triad, Hereditary cancer-predisposing syndrome
RS786205148 RD3 Health Risk Pathogenic Leber congenital amaurosis 12, Abnormality of the eye
RS786205149 RD3 Health Risk Pathogenic Leber congenital amaurosis 12, Leber congenital amaurosis 12
RS786205150 RD3 Health Risk Pathogenic Leber congenital amaurosis 12, Leber congenital amaurosis 12
RS786205151 ADAM9 Health Risk Pathogenic Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS786205155 ETV6 Health Risk Likely pathogenic Thrombocytopenia, Acute lymphoid leukemia
RS786205156 LIPT1 Health Risk Pathogenic Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency
RS786205157 AARS1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 29
RS786205159 SIK1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 30
RS786205160 SIK1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 30
RS786205161 SIK1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 30
RS786205162 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS786205163 SIK1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 30
RS786205164 CDK5 Health Risk Pathogenic Lissencephaly 7 with cerebellar hypoplasia, Lissencephaly 7 with cerebellar hypoplasia
RS786205165 MTOR Health Risk Pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, CEBALID syndrome
RS786205166 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS786205167 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS786205168 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, 7 conditions
RS786205169 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS786205170 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS786205171 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS786205172 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS786205173 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS786205174 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, 7 conditions
RS786205175 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS786205176 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS786205177 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS786205178 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS786205180 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205181 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205182 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
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