Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1426654
rs1426654
1.000 15 48134287 missense variant A/G;T snv 0.23
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI
0.700 0
dbSNP: rs886037642
rs886037642
1.000 15 48134963 frameshift variant -/TAAT delins 1.4E-05
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI
0.700 0