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: rs1555187083
rs1555187083
SDHD
5 0.851 0.240 11 112089012 splice donor variant G/A;T snv 0.700 1.000 1 2006 2006
dbSNP: rs587776649
rs587776649
SDHD ; TIMM8B
5 0.851 0.240 11 112087861 frameshift variant G/- del 0.700 1.000 1 2008 2008
dbSNP: rs1566690018
rs1566690018
SDHD ; TIMM8B
3 0.882 0.200 11 112086920 frameshift variant TG/- del 0.700 0
dbSNP: rs587776648
rs587776648
SDHD
3 0.882 0.200 11 112094824 frameshift variant GACT/- delins 0.700 0
dbSNP: rs587782210
rs587782210
SDHD ; TIMM8B
4 0.882 0.200 11 112087959 stop gained C/A snv 0.700 0
dbSNP: rs876658477
rs876658477
SDHD
3 0.882 0.200 11 112094810 missense variant T/G snv 4.0E-06 0.700 0
dbSNP: rs878854589
rs878854589
SDHD ; TIMM8B
3 0.882 0.200 11 112086916 frameshift variant -/C delins 0.700 0
dbSNP: rs878854590
rs878854590
SDHD
4 0.851 0.240 11 112088869 frameshift variant G/- delins 0.700 0
dbSNP: rs878854591
rs878854591
SDHD
3 0.882 0.200 11 112088938 frameshift variant C/- delins 0.700 0