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
RS2050032479 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2050043415 G6PC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2050050950 FOXP1 Health Risk Pathogenic —
RS2050055854 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2050059649 FOXP1 Health Risk Pathogenic —
RS2050068938 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2050083156 TTN Health Risk Likely pathogenic —
RS2050086519 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2050086931 G6PC3 Health Risk Pathogenic —
RS2050087074 G6PC3 Health Risk Pathogenic —
RS2050087993 SCAF4 Health Risk Likely pathogenic —
RS2050096005 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases
RS2050112328 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS2050115619 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Developmental and epileptic encephalopathy
RS2050116026 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2050117690 ARHGEF9 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2050120947 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS2050148457 SCAPER Health Risk Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS2050180962 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2050182643 SCAF4 Health Risk Pathogenic Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
RS2050235998 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2050240974 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2050242587 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2050247265 TTN Health Risk Likely pathogenic Cardiomyopathy, Dilated cardiomyopathy 1G
RS2050261564 DIAPH3 Health Risk Pathogenic Autosomal dominant auditory neuropathy 1, Autosomal dominant auditory neuropathy 1
RS2050278981 SCAF4 Health Risk Pathogenic —
RS2050305726 SCAF4 Health Risk Pathogenic —
RS2050313754 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2050315855 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2050437440 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS2050472602 EFTUD2 Health Risk Likely pathogenic —
RS2050473924 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2050474390 EFTUD2 Health Risk Pathogenic/Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2050481336 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2050490408 EFTUD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2050491591 PYGL Health Risk Pathogenic —
RS2050493812 EFTUD2 Health Risk Pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS2050507811 EFTUD2 Health Risk Likely pathogenic Inborn genetic diseases, Mandibulofacial dysostosis-microcephaly syndrome
RS2050538888 SCAF4 Health Risk Pathogenic SCAF4-associated mental retardation, SCAF4-associated mental retardation
RS2050540072 TTN Health Risk Conflicting classifications of pathogenicity —
RS2050549761 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2050559188 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2050571775 EFTUD2 Health Risk Conflicting classifications of pathogenicity Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2050589119 SCAF4 Health Risk Pathogenic Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
RS2050602182 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS2050609487 EFTUD2 Health Risk Likely pathogenic Chromatinopathy, Chromatinopathy
RS2050617604 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2050642774 PPARG Health Risk Pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS2050647141 PPARG Health Risk Likely pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS2050647473 PPARG Health Risk Likely pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS2050651799 PPARG Health Risk Likely pathogenic —
RS2050657361 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2050680680 EFTUD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2050689146 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS2050697632 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2050707804 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2050721026 EFTUD2 Health Risk Pathogenic —
RS2050729007 PYGL Health Risk Likely pathogenic —
RS2050731690 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS2050744878 DAG1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS2050749062 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2050761292 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS2050786898 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS2050794694 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2050845376 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2050848238 FECH Health Risk Pathogenic See cases, See cases
RS2050849085 FECH Health Risk Conflicting classifications of pathogenicity FECH-related disorder, Protoporphyria
RS2050854171 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2050856829 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2050859456 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2050860445 TTN Health Risk Likely pathogenic Tibial muscular dystrophy, Tibial muscular dystrophy
RS2050860958 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2050861886 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2050862880 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2050864747 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2050885130 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2050888713 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2050891633 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2050902019 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2050933471 CNP Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS2050937885 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2050942396 EFTUD2 Health Risk Likely pathogenic —
RS2050976068 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2050988927 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2050991229 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2050992362 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2050994882 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051003587 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2051026773 CNP Health Risk Pathogenic Myopia 2, autosomal dominant
RS2051032338 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2051069083 BRCA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2051069733 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051071309 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2051071982 BRCA1 Health Risk Pathogenic —
RS2051072173 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051074344 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051078701 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051085308 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2051091746 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2051091768 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 30
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