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
RS1603283567 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603285352 SHOX Health Risk Conflicting classifications of pathogenicity SHOX-related short stature, SHOX-related short stature
RS1603286090 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1603286154 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603287481 COL4A5 Health Risk Pathogenic —
RS1603287820 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603288794 CHM Health Risk Pathogenic —
RS1603288815 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1603288832 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1603288875 CHM Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1603289772 NAA10 Health Risk Likely pathogenic Microphthalmia, syndromic 1
RS1603289774 NAA10 Health Risk Pathogenic/Likely pathogenic Microphthalmia, syndromic 1
RS1603290097 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS1603290131 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603290148 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603290169 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603290199 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603290291 NAA10 Health Risk Likely pathogenic Ogden syndrome, Ogden syndrome
RS1603290366 NAA10 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Intellectual disability
RS1603290681 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Alport syndrome
RS1603290763 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603290796 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603290816 NAA10 Health Risk Likely pathogenic Ogden syndrome, Ogden syndrome
RS1603291770 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603292021 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603292081 COL4A5 Health Risk Pathogenic —
RS1603292422 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603293306 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1603293314 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603293553 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603293570 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603293605 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603293624 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603293639 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603297223 COL4A5 Health Risk Pathogenic —
RS1603297305 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603297334 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603297903 COL4A5 Health Risk Pathogenic —
RS1603298378 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603298803 PHF8 Health Risk Pathogenic —
RS1603298869 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603298993 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603305030 PHF8 Health Risk Likely pathogenic Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
RS1603306716 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603306718 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603307453 MECP2 Health Risk Pathogenic —
RS1603307604 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1603307859 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1603307865 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1603307876 MECP2 Health Risk Pathogenic —
RS1603308066 UBE2A Health Risk Likely pathogenic Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
RS1603308287 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1603308308 SRY Health Risk Pathogenic 46, XY sex reversal 1
RS1603308358 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Inborn genetic diseases
RS1603308957 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1603308963 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1603309190 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1603309480 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS1603309620 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1603310370 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603310380 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603310755 MECP2 Health Risk Pathogenic Autism, susceptibility to
RS1603310794 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1603310863 MECP2 Health Risk Pathogenic —
RS1603310867 MECP2 Health Risk Likely pathogenic 12 conditions, 12 conditions
RS1603310910 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1603311030 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603314287 PHF8 Health Risk Pathogenic —
RS1603318143 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603318154 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603319726 CD40LG Health Risk Likely pathogenic —
RS1603321138 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1603321148 CD40LG Health Risk Pathogenic/Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1603321154 CD40LG Health Risk Likely pathogenic —
RS1603321772 CD40LG Health Risk Pathogenic/Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1603321834 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1603321840 CD40LG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1603323174 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603323278 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603323355 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603323412 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603326397 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603326561 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603326578 THOC2 Health Risk Likely pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS1603328025 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603328372 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603328406 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1603328466 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Gastric cancer
RS1603328667 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1603328780 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1603328816 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1603328913 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1603328999 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1603334464 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1603334619 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1603334758 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603336347 IRS4 Health Risk Pathogenic Hypothyroidism, congenital
RS1603336895 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1603336897 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1603336980 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
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