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: rs34677591
rs34677591
SDHD ; TIMM8B
12 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.020 1.000 2 2000 2002
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
12 0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 0.010 1.000 1 2002 2002
dbSNP: rs1208512558
rs1208512558
POMC
2 0.925 0.040 2 25161623 missense variant C/G;T snv 6.7E-06 0.010 1.000 1 2002 2002
dbSNP: rs1449052677
rs1449052677
POMC
3 0.882 0.120 2 25161643 missense variant T/C snv 1.3E-05 0.010 1.000 1 2002 2002
dbSNP: rs80338843
rs80338843
SDHD ; TIMM8B
6 0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06 0.010 1.000 1 2000 2000