rs1376096651, MITF

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Albinism, Ocular
CUI: C0078917
Disease: Albinism, Ocular
10 0.882 0.280 3 69964977 missense variant A/G;T snv 0.010 1.000 1 2009 2009
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
CUI: C1845069
Disease: ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
2 0.882 0.280 3 69964977 missense variant A/G;T snv 0.010 1.000 1 1997 1997
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
14 0.882 0.280 3 69964977 missense variant A/G;T snv 0.010 1.000 1 1997 1997