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: rs1553178757
rs1553178757
SDHB
1 1.000 0.080 1 17044897 intron variant T/C snv 0.700 0
dbSNP: rs1553179313
rs1553179313
SDHB
1 1.000 0.080 1 17053948 start lost GCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCT/- delins 0.700 0
dbSNP: rs1553261757
rs1553261757
SDHC
1 1.000 0.080 1 161323611 splice acceptor variant CAGAC/- del 0.700 0
dbSNP: rs1553266474
rs1553266474
SDHC
1 1.000 0.080 1 161362329 stop lost TGTGGGACCTAGGAAAAGGCCTGAAGATTCCCCAGCTATACCAGTCTGGAGTGGTTGTCCTGGTTCTTACTGTGTTGTCCTCTATGGGGCTGGCAGCCATGTGAA/- delins 0.700 0
dbSNP: rs1553437028
rs1553437028
TMEM127
1 1.000 0.080 2 96254959 frameshift variant C/- delins 0.700 0
dbSNP: rs1553437737
rs1553437737
CIAO1 ; TMEM127
1 1.000 0.080 2 96265257 frameshift variant TG/- delins 0.700 0
dbSNP: rs1554984631
rs1554984631
SDHAF2
1 1.000 0.080 11 61437764 frameshift variant -/T delins 0.700 0
dbSNP: rs1555187083
rs1555187083
SDHD
5 0.851 0.240 11 112089012 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1555187570
rs1555187570
SDHD
1 1.000 0.080 11 112094805 frameshift variant GGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA/- del 0.700 0
dbSNP: rs1555187601
rs1555187601
SDHD
1 1.000 0.080 11 112094869 frameshift variant G/- delins 0.700 0
dbSNP: rs1558752379
rs1558752379
TMEM127
1 1.000 0.080 2 96254845 frameshift variant G/- delins 0.700 0
dbSNP: rs1558752468
rs1558752468
TMEM127
1 1.000 0.080 2 96254905 frameshift variant G/- del 0.700 0
dbSNP: rs1558756727
rs1558756727
CIAO1 ; TMEM127
1 1.000 0.080 2 96265375 frameshift variant C/- del 0.700 0
dbSNP: rs267607032
rs267607032
SDHB
5 0.882 0.080 1 17028605 missense variant C/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs34309090
rs34309090
SDHB
1 1.000 0.080 1 17022612 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs397516835
rs397516835
SDHB
4 0.925 0.080 1 17024040 missense variant C/G;T snv 0.700 0
dbSNP: rs398122805
rs398122805
SDHB
6 0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs528442805
rs528442805
SDHB
1 1.000 0.080 1 17027749 splice region variant C/T snv 8.0E-06 0.700 0
dbSNP: rs587776649
rs587776649
SDHD ; TIMM8B
5 0.851 0.240 11 112087861 frameshift variant G/- del 0.700 0
dbSNP: rs587776653
rs587776653
SDHC
7 0.827 0.160 1 161356841 splice donor variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs587781270
rs587781270
SDHB
5 0.882 0.080 1 17033058 splice donor variant A/T snv 0.700 0
dbSNP: rs587782243
rs587782243
SDHB
5 0.882 0.080 1 17033060 missense variant C/T snv 1.2E-05 7.0E-06 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: rs727503415
rs727503415
SDHB
2 1.000 0.080 1 17033069 missense variant A/G snv 0.700 0