Source: CURATED ×
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: rs121908816
rs121908816
CIAO1 ; TMEM127
3 0.925 0.080 2 96265262 frameshift variant ACAG/- delins 2.1E-05 0.700 1.000 2 2010 2012
dbSNP: rs121908818
rs121908818
CIAO1 ; TMEM127
2 0.925 0.080 2 96265224 stop gained C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1553437737
rs1553437737
CIAO1 ; TMEM127
1 1.000 0.080 2 96265257 frameshift variant TG/- delins 0.700 0
dbSNP: rs1558756727
rs1558756727
CIAO1 ; TMEM127
1 1.000 0.080 2 96265375 frameshift variant C/- del 0.700 0
dbSNP: rs1555340550
rs1555340550
MAX
1 1.000 0.080 14 65077980 frameshift variant C/- delins 0.700 1.000 3 1992 1995
dbSNP: rs387906650
rs387906650
MAX
3 0.925 0.080 14 65077985 stop gained G/A snv 8.0E-06 0.700 1.000 3 2011 2013
dbSNP: rs1060500101
rs1060500101
MAX
1 1.000 0.080 14 65077987 frameshift variant ACTGGATATAT/- delins 0.700 0
dbSNP: rs1193255946
rs1193255946
MAX
1 1.000 0.080 14 65077989 stop gained A/G;T snv 1.4E-05 0.700 0
dbSNP: rs387906651
rs387906651
MAX ; LOC100506321
3 0.925 0.080 14 65093782 stop gained G/A snv 0.700 1.000 3 2011 2017
dbSNP: rs113560320
rs113560320
SDHAF2
3 0.925 0.080 11 61437820 missense variant G/A snv 0.700 1.000 9 1981 2017
dbSNP: rs749527870
rs749527870
SDHAF2
1 1.000 0.080 11 61437849 splice donor variant G/A snv 0.700 1.000 2 2012 2015
dbSNP: rs1554984631
rs1554984631
SDHAF2
1 1.000 0.080 11 61437764 frameshift variant -/T delins 0.700 0
dbSNP: rs753554501
rs753554501
SDHAF2
1 1.000 0.080 11 61438048 frameshift variant -/A ins 4.0E-06 0.700 0
dbSNP: rs774508076
rs774508076
SDHAF2
1 1.000 0.080 11 61437753 stop gained G/A snv 2.0E-05 0.700 0
dbSNP: rs786201095
rs786201095
SDHB
7 0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 0.700 1.000 18 2005 2018
dbSNP: rs74315366
rs74315366
SDHB
6 0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 0.700 1.000 14 2001 2017
dbSNP: rs772551056
rs772551056
SDHB
6 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.700 1.000 9 2002 2016
dbSNP: rs397516836
rs397516836
SDHB
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 7 2002 2012
dbSNP: rs727504457
rs727504457
SDHB
2 0.925 0.080 1 17033086 missense variant A/G snv 0.700 1.000 6 2001 2012
dbSNP: rs751000085
rs751000085
SDHB
4 0.882 0.080 1 17028680 stop gained G/A;C snv 8.0E-06 0.700 1.000 3 2006 2014
dbSNP: rs397516833
rs397516833
SDHB
5 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 2 2007 2008
dbSNP: rs1045881797
rs1045881797
SDHB
1 1.000 0.080 1 17024062 stop gained C/A;T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1060503751
rs1060503751
SDHB
4 0.882 0.080 1 17028691 frameshift variant AG/- delins 0.700 0
dbSNP: rs111430410
rs111430410
SDHB
1 1.000 0.080 1 17053988 missense variant C/T snv 3.9E-04 1.8E-03 0.700 0
dbSNP: rs1131691049
rs1131691049
SDHB
5 0.882 0.080 1 17054019 start lost T/A snv 0.700 0