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: rs1555119834
rs1555119834
ATM ; C11orf65
4 0.882 0.280 11 108326116 frameshift variant -/T delins 0.700 0
dbSNP: rs587782604
rs587782604
SDHB
7 0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs587782703
rs587782703
SDHB
8 0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 0.700 0
dbSNP: rs786205147
rs786205147
SDHC
4 0.882 0.120 1 161340638 missense variant G/A;T snv 0.700 0
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: rs34677591
rs34677591
SDHD ; TIMM8B
12 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2002 2002
dbSNP: rs776485432
rs776485432
SDHC
2 0.925 0.040 1 161356764 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs80338846
rs80338846
SDHD
3 0.882 0.080 11 112088981 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1555187633
rs1555187633
SDHD
1 1.000 0.040 11 112094933 missense variant G/T snv 0.700 1.000 5 2000 2004
dbSNP: rs1420960657
rs1420960657
SDHD
4 0.851 0.080 11 112093192 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs77724903
rs77724903
RET
23 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.010 1.000 1 2005 2005
dbSNP: rs1060503770
rs1060503770
SDHD
5 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs104894309
rs104894309
SDHD ; TIMM8B
7 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs772551056
rs772551056
SDHB
9 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs899706404
rs899706404
SDHD ; TIMM8B
3 0.925 0.040 11 112087944 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs876658461
rs876658461
SDHB
7 0.827 0.200 1 17023975 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs387906780
rs387906780
SDHA
4 0.882 0.120 5 251439 missense variant C/T snv 1.2E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs1064794272
rs1064794272
VHL
6 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs80338842
rs80338842
SDHD ; TIMM8B
8 0.790 0.280 11 112086910 start lost G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1265416900
rs1265416900
CHGA
2 0.925 0.040 14 92932783 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1456371000
rs1456371000
CHGA
2 0.925 0.040 14 92931642 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs142441643
rs142441643
SDHA
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs942160050
rs942160050
SDHC
3 0.882 0.080 1 161356685 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015