Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434396
rs121434396
SLC25A12
1 1.000 0.200 2 171787637 missense variant T/C snv 8.0E-06 0.800 1.000 2 2009 2014
dbSNP: rs886037851
rs886037851
SLC25A12
1 1.000 0.200 2 171813452 missense variant C/T snv 0.800 1.000 2 2009 2014
dbSNP: rs1553469156
rs1553469156
SLC25A12
1 1.000 0.200 2 171787915 missense variant C/T snv 0.700 0