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: rs796052571
rs796052571
6 0.851 0.040 12 13608755 missense variant C/T snv 0.700 0
dbSNP: rs797044849
rs797044849
17 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0