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: rs121918382
rs121918382
3 0.925 0.080 11 116832816 missense variant A/G snv 4.0E-06 0.800 1.000 1 1991 1991
dbSNP: rs138326449
rs138326449
5 0.851 0.080 11 116830638 splice donor variant G/A snv 1.4E-03 1.5E-03 0.700 0
dbSNP: rs147210663
rs147210663
2 0.925 0.080 11 116830844 missense variant G/A;T snv 8.7E-04; 8.0E-06 0.700 0
dbSNP: rs76353203
rs76353203
3 1.000 0.040 11 116830637 stop gained C/G;T snv 8.0E-06; 6.6E-04 0.700 0