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: rs1306475361
rs1306475361
SDHD
4 0.851 0.240 11 112088866 splice acceptor variant G/T snv 4.0E-06 0.700 1.000 6 2002 2010
dbSNP: rs80338845
rs80338845
SDHD
9 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.700 1.000 3 2010 2015
dbSNP: rs587776648
rs587776648
SDHD
3 0.882 0.200 11 112094824 frameshift variant GACT/- delins 0.700 0
dbSNP: rs1566691921
rs1566691921
SDHD ; TIMM8B
3 0.882 0.200 11 112087856 splice acceptor variant GC/TT mnv 0.700 1.000 2 2009 2010
dbSNP: rs1050032491
rs1050032491
SDHD
4 0.851 0.240 11 112094832 stop gained T/A;C snv 7.0E-06 0.700 1.000 3 2001 2012
dbSNP: rs876658477
rs876658477
SDHD
3 0.882 0.200 11 112094810 missense variant T/G snv 4.0E-06 0.700 0
dbSNP: rs387906358
rs387906358
SDHD
4 0.851 0.200 11 112088884 frameshift variant TC/- delins 0.700 1.000 4 2001 2013
dbSNP: rs397514034
rs397514034
SDHD ; TIMM8B
4 0.882 0.200 11 112087896 frameshift variant TC/- delins 0.700 1.000 2 2001 2009
dbSNP: rs1566690018
rs1566690018
SDHD ; TIMM8B
3 0.882 0.200 11 112086920 frameshift variant TG/- del 0.700 0