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
RS2547824218 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547824726 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2547824925 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547825080 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547825108 ATP7B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Wilson disease
RS2547825208 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547825848 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547825885 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547826484 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547826614 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547826878 EIF2B1 Health Risk Pathogenic —
RS2547828012 EIF2B1 Health Risk Pathogenic —
RS2547828052 SDCCAG8 Health Risk Pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS2547829389 CPLANE1 Health Risk Pathogenic —
RS2547832232 PCDH15 Health Risk Pathogenic —
RS2547832439 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2547832670 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547833048 PCDH15 Health Risk Pathogenic —
RS2547833210 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2547833358 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2547844200 KCNC2 Health Risk Pathogenic Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
RS2547851230 SDCCAG8 Health Risk Likely pathogenic Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
RS2547851268 TMEM126A Health Risk Pathogenic —
RS2547854950 CPLANE1 Health Risk Pathogenic —
RS2547855732 CPLANE1 Health Risk Pathogenic —
RS2547859493 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS2547866979 ADK Health Risk Pathogenic —
RS2547869345 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2547872368 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2547872482 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1F
RS2547884822 PPP1R12A Health Risk Likely pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS2547885939 SDCCAG8 Health Risk Pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS2547886035 SDCCAG8 Health Risk Pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS2547886067 SDCCAG8 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2547886688 VPS13C Health Risk Pathogenic —
RS2547891117 VPS13C Health Risk Pathogenic —
RS2547891931 PPP1R12A Health Risk Pathogenic PPP1R12A-related disorder, PPP1R12A-related disorder
RS2547891962 PPP1R12A Health Risk Pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS2547893717 PPP1R12A Health Risk Pathogenic PPP1R12A-related disorder, Genitourinary and/or brain malformation syndrome
RS2547893982 VPS13C Health Risk Pathogenic —
RS2547899469 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547899474 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547899480 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547899507 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547899687 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547899695 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547899803 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2547899927 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547899930 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547899934 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547903295 CPLANE1 Health Risk Likely pathogenic Orofaciodigital syndrome type 6, Orofaciodigital syndrome type 6
RS2547907419 VPS13C Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS2547907937 VPS13C Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS2547923716 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547923770 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2547945307 MAPK8IP3 Health Risk Likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS2547945615 MAPK8IP3 Health Risk Likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS2547946899 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Pseudo-Hurler polydystrophy
RS2547948030 TAC3 Health Risk Likely pathogenic —
RS2547948106 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547949681 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547949758 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547951445 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547951708 ADAMTS17 Health Risk Pathogenic —
RS2547951809 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547951831 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547951848 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547951882 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547952059 PPP1R12A Health Risk Likely pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS2547952219 PPP1R12A Health Risk Likely pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS2547953413 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547953474 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547953486 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547954157 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547954174 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Pseudo-Hurler polydystrophy
RS2547954219 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547954355 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547954391 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547954440 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547954482 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547954498 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547954945 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547955024 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547956432 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547956448 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547956479 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547956692 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547956774 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547956808 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547956822 GNPTAB Health Risk Pathogenic Mucolipidosis, Mucolipidosis
RS2547956895 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547956901 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547956965 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547956980 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547957057 BNC1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2547957065 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2547957106 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547957136 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2547957205 GNPTAB Health Risk Likely pathogenic GNPTAB-related disorder, GNPTAB-related disorder
RS2547957216 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
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