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
RS2104860667 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104871303 SMPD4 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS2104879312 RAB3GAP1 Health Risk Likely pathogenic Warburg micro syndrome, Warburg micro syndrome
RS2104884982 CKAP2L Health Risk Pathogenic/Likely pathogenic Filippi syndrome, Filippi syndrome
RS2104908342 HS6ST1 Health Risk risk factor Hypogonadotropic hypogonadism 15 with anosmia, Hypogonadotropic hypogonadism 15 with anosmia
RS2104915487 CXCR4 Health Risk Pathogenic Warts, hypogammaglobulinemia
RS2104915503 CXCR4 Health Risk Likely pathogenic —
RS2104915518 CXCR4 Health Risk Pathogenic Warts, hypogammaglobulinemia
RS2104915543 CXCR4 Health Risk Pathogenic Warts, hypogammaglobulinemia
RS2104915548 CXCR4 Health Risk Pathogenic Warts, hypogammaglobulinemia
RS2104915575 CXCR4 Health Risk Pathogenic Warts, hypogammaglobulinemia
RS2104915614 CXCR4 Health Risk Pathogenic —
RS2104915668 CXCR4 Health Risk Pathogenic Warts, hypogammaglobulinemia
RS2104915680 CXCR4 Health Risk Pathogenic Warts, hypogammaglobulinemia
RS2104916488 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Martsolf syndrome 2
RS2104919976 ABCG8 Health Risk Pathogenic —
RS2104934553 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS2104935838 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS2104943498 RAB3GAP1 Health Risk Likely pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS2104947166 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2104947953 ABCG8 Health Risk Likely pathogenic —
RS2104948584 RAB3GAP1 Health Risk Pathogenic —
RS2104953327 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS2104954798 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS2104954946 PROC Health Risk Likely pathogenic Reduced protein C activity, Reduced protein C activity
RS2104970514 LRPPRC Health Risk Pathogenic —
RS2104983369 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS2104984579 PROC Health Risk Likely pathogenic —
RS2104989326 LRPPRC Health Risk Pathogenic —
RS2104989806 LRPPRC Health Risk Pathogenic —
RS2104989966 LRPPRC Health Risk Pathogenic —
RS2104990067 LRPPRC Health Risk Pathogenic —
RS2104990962 CTNNA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2105001159 RAB3GAP1 Health Risk Pathogenic Martsolf syndrome 2, Martsolf syndrome 2
RS2105019803 GLI2 Health Risk Likely pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS2105026015 LRPPRC Health Risk Pathogenic —
RS2105042210 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2105042238 MMADHC Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2105042265 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2105045491 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2105048127 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS2105059931 PTPN4 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2105073672 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2105073699 FAM161A Health Risk Pathogenic —
RS2105073705 FAM161A Health Risk Pathogenic —
RS2105073741 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2105073911 FAM161A Health Risk Pathogenic —
RS2105077267 LRPPRC Health Risk Likely pathogenic —
RS2105077465 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2105077651 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2105077791 LRPPRC Health Risk Pathogenic —
RS2105077920 FAM161A Health Risk Pathogenic —
RS2105077955 FAM161A Health Risk Pathogenic —
RS2105080409 FAM161A Health Risk Pathogenic —
RS2105080547 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2105080565 FAM161A Health Risk Pathogenic —
RS2105080679 FAM161A Health Risk Pathogenic —
RS2105080750 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2105080884 FAM161A Health Risk Pathogenic —
RS2105080891 LRPPRC Health Risk Pathogenic —
RS2105080958 FAM161A Health Risk Pathogenic —
RS2105080977 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2105081186 FAM161A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2105081486 FAM161A Health Risk Pathogenic —
RS2105082121 FAM161A Health Risk Pathogenic —
RS2105082215 FAM161A Health Risk Pathogenic —
RS2105082218 FAM161A Health Risk Pathogenic —
RS2105082415 FAM161A Health Risk Pathogenic —
RS2105082548 LRPPRC Health Risk Pathogenic —
RS2105082909 FAM161A Health Risk Pathogenic —
RS2105082959 FAM161A Health Risk Pathogenic —
RS2105083232 FAM161A Health Risk Pathogenic —
RS2105083646 FAM161A Health Risk Pathogenic —
RS2105083980 FAM161A Health Risk Pathogenic —
RS2105084620 GLI2 Health Risk Pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS2105084665 GLI2 Health Risk Pathogenic —
RS2105084937 LRPPRC Health Risk Pathogenic —
RS2105085199 GLI2 Health Risk Pathogenic Cerebellar cyst, Cerebellar cyst
RS2105085236 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2105086549 FAM161A Health Risk Pathogenic —
RS2105086622 FAM161A Health Risk Pathogenic —
RS2105086630 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2105086979 FAM161A Health Risk Pathogenic —
RS2105091650 KIF5C Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
RS2105093302 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105093530 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS2105111147 FAM161A Health Risk Pathogenic —
RS2105111295 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 28
RS2105111520 FAM161A Health Risk Pathogenic —
RS2105123510 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105124073 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105124818 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105129435 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS2105130509 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105131625 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105148069 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2105154353 LRP1B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2105187668 LRP1B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2105192046 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS2105197765 IFIH1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
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