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
RS1553853557 CLCN2 Health Risk Pathogenic Familial hyperaldosteronism type II, Familial hyperaldosteronism type II
RS1553854678 COL7A1 Health Risk Pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS1553854969 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1553855074 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553855127 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553855151 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553855606 CLCN2 Health Risk Likely pathogenic —
RS1553855868 COL7A1 Health Risk Pathogenic —
RS1553855974 COL7A1 Health Risk Pathogenic —
RS1553856095 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1553856214 CLCN2 Health Risk Pathogenic Familial hyperaldosteronism type II, Familial hyperaldosteronism type II
RS1553856553 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, Ectrodactyly
RS1553856718 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553857113 CLCN2 Health Risk Pathogenic Familial hyperaldosteronism type II, Familial hyperaldosteronism type II
RS1553857303 TP63 Health Risk Likely pathogenic —
RS1553857801 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553857828 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553857889 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1553857986 COL7A1 Health Risk Pathogenic —
RS1553857995 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553858068 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553860378 COL7A1 Health Risk Likely pathogenic —
RS1553860401 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553862061 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553862114 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553862274 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553862581 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1553862845 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1553862927 SOX2 Health Risk Pathogenic Inborn genetic diseases, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1553862958 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1553862966 SOX2 Health Risk Pathogenic —
RS1553862971 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1553862987 SOX2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553863660 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1553865346 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553865348 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, EVC-related disorder
RS1553867117 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553867138 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553871618 OPA1 Health Risk Pathogenic —
RS1553871764 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553871792 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553871866 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553872542 OPA1 Health Risk Conflicting classifications of pathogenicity Optic atrophy with or without deafness, ophthalmoplegia
RS1553872623 NSD2 Health Risk Likely pathogenic Syndromic intellectual disability, Syndromic intellectual disability
RS1553872742 OPA1 Health Risk Pathogenic —
RS1553873138 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553873247 NSD2 Health Risk Pathogenic 4p partial monosomy syndrome, Global developmental delay
RS1553873969 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553875180 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1553875421 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553875596 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553876034 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553876590 OPA1 Health Risk Likely pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS1553876668 WFS1 Health Risk Pathogenic Type 2 diabetes mellitus, Wolfram syndrome 1
RS1553876694 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1553876813 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553876870 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553877330 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1553877493 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1553877591 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS1553877628 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553877757 TTN Health Risk Conflicting classifications of pathogenicity —
RS1553877821 MSX1 Health Risk Pathogenic Tooth agenesis, selective
RS1553877864 OPA1 Health Risk Pathogenic/Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS1553877885 NEB Health Risk Likely pathogenic —
RS1553877912 OPA1 Health Risk Pathogenic Abortive cerebellar ataxia, Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
RS1553877946 OPA1 Health Risk Conflicting classifications of pathogenicity Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
RS1553877949 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1553878117 OPA1 Health Risk Likely pathogenic —
RS1553878162 MSX1 Health Risk Pathogenic Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome
RS1553878198 RBPJ Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553878211 RBPJ Health Risk Likely pathogenic Adams-Oliver syndrome 3, Type 2 diabetes mellitus
RS1553878280 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS1553878395 SEPSECS Health Risk Likely pathogenic 6 conditions, 6 conditions
RS1553878548 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1553878554 OPA1 Health Risk Likely pathogenic —
RS1553878573 OPA1 Health Risk Conflicting classifications of pathogenicity Optic atrophy, Optic atrophy
RS1553878608 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS1553878625 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1553878647 OPA1 Health Risk Pathogenic —
RS1553878931 WFS1 Health Risk Uncertain significance/Uncertain risk allele Inborn genetic diseases, Wolfram syndrome 1
RS1553878946 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram-like syndrome, WFS1-Related Spectrum Disorders
RS1553879004 WFS1 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Wolfram syndrome 1
RS1553879021 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1553879087 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1553880029 RBPJ Health Risk Likely pathogenic Adams-Oliver syndrome 3, Adams-Oliver syndrome 3
RS1553880098 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1553880152 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1553881510 SEPSECS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553881788 SEPSECS Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553882262 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1553882550 RBPJ Health Risk Likely pathogenic Adams-Oliver syndrome 3, Adams-Oliver syndrome 3
RS1553883443 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553883480 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1553884554 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553886582 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553886849 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553887191 NEB Health Risk Likely pathogenic —
RS1553887262 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1553887329 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Ovarian cancer
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