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
RS2148119483 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS2148120604 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS2148120607 CHM Health Risk Pathogenic —
RS2148120627 CHM Health Risk Pathogenic —
RS2148120711 CHM Health Risk Pathogenic —
RS2148121838 FLNA Health Risk Likely pathogenic Periventricular nodular heterotopia, Periventricular nodular heterotopia
RS2148121859 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS2148121877 FLNA Health Risk Likely pathogenic —
RS2148121907 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2148121932 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS2148126338 CHM Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2148126410 CHM Health Risk Pathogenic —
RS2148126425 CHM Health Risk Pathogenic —
RS2148126477 CHM Health Risk Pathogenic —
RS2148127827 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148127941 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128122 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128139 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128153 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128199 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148128297 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128349 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148128390 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148128459 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128483 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128554 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, Nonpapillary renal cell carcinoma
RS2148128715 EMD Health Risk Likely pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128756 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128811 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128862 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128871 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128932 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128957 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148128961 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2148131600 HDAC8 Health Risk Pathogenic —
RS2148131678 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2148132672 COQ8A Health Risk Pathogenic —
RS2148135255 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS2148135377 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2148138686 RBFOX2 Health Risk Likely pathogenic RBFOX2-related congenital heart disorder, RBFOX2-related congenital heart disorder
RS2148140779 RPL10 Health Risk Likely pathogenic —
RS2148141994 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2148143198 CHM Health Risk Pathogenic —
RS2148143831 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2148143998 SLC9A6 Health Risk Likely pathogenic Christianson syndrome, Thyroid cancer
RS2148144372 CHM Health Risk Pathogenic —
RS2148144488 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2148149936 SLC9A6 Health Risk Likely pathogenic —
RS2148150789 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2148150795 ALPL Health Risk Likely pathogenic —
RS2148151094 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2148151806 KCNT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 57
RS2148152217 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2148152270 KDM6A Health Risk Likely pathogenic —
RS2148152364 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS2148152544 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, ALPL-related disorder
RS2148152665 ALPL Health Risk Likely pathogenic —
RS2148152698 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Adult hypophosphatasia
RS2148153507 CHM Health Risk Pathogenic —
RS2148153518 CHM Health Risk Conflicting classifications of pathogenicity Choroideremia, Choroideremia
RS2148153587 CHM Health Risk Pathogenic/Likely pathogenic Choroideremia, Choroideremia
RS2148154145 CHM Health Risk Pathogenic —
RS2148154378 CHM Health Risk Pathogenic —
RS2148156504 SLC9A6 Health Risk Likely pathogenic Christianson syndrome, Christianson syndrome
RS2148156632 SLC9A6 Health Risk Pathogenic/Likely pathogenic Christianson syndrome, Christianson syndrome
RS2148158064 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2148158307 ALPL Health Risk Pathogenic —
RS2148158314 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Hypophosphatasia
RS2148158612 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2148158695 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2148159628 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2148161378 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS2148161624 ALPL Health Risk Pathogenic Hypophosphatasia, Hypophosphatasia
RS2148161800 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2148162290 AMMECR1 Health Risk Likely pathogenic —
RS2148163144 RSPO1 Health Risk Pathogenic Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
RS2148163693 POMGNT1 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2148165155 ALG13 Health Risk Likely pathogenic —
RS2148165214 DMD Health Risk Likely pathogenic —
RS2148166435 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148166660 ALK Health Risk Likely pathogenic Lung cancer, Lung cancer
RS2148166991 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148167494 POMGNT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148168763 CHM Health Risk Pathogenic —
RS2148169033 CHM Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2148169289 KDM6A Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS2148169594 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2148169894 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS2148171286 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS2148171627 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2148172518 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148173968 SLC9A6 Health Risk Pathogenic Christianson syndrome, Thyroid cancer
RS2148174022 SLC9A6 Health Risk Likely pathogenic —
RS2148179162 SLC9A6 Health Risk Likely pathogenic —
RS2148179292 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2148179919 STAG2 Health Risk Pathogenic —
RS2148183488 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2148183552 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148183611 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148183751 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
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