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: 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: rs104894305
rs104894305
SDHD ; TIMM8B
4 0.851 0.240 11 112087899 stop gained C/A snv 0.700 0
dbSNP: rs1050032491
rs1050032491
SDHD
4 0.851 0.240 11 112094832 stop gained T/A;C snv 7.0E-06 0.700 0
dbSNP: rs1060500101
rs1060500101
MAX
1 1.000 0.080 14 65077987 frameshift variant ACTGGATATAT/- delins 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
dbSNP: rs1131691052
rs1131691052
SDHB
2 1.000 0.080 1 17023972 splice donor variant C/G;T snv 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: rs121908818
rs121908818
CIAO1 ; TMEM127
2 0.925 0.080 2 96265224 stop gained C/G;T snv 7.0E-06 0.700 0
dbSNP: rs121908822
rs121908822
TMEM127
2 0.925 0.080 2 96254974 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs121908826
rs121908826
TMEM127
3 0.882 0.080 2 96254117 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs1306475361
rs1306475361
SDHD
4 0.851 0.240 11 112088866 splice acceptor variant G/T snv 4.0E-06 0.700 0
dbSNP: rs138996609
rs138996609
SDHB
5 0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs146800605
rs146800605
SDHB
1 1.000 0.080 1 17022637 missense variant T/A;C snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs1480267715
rs1480267715
SDHB
1 1.000 0.080 1 17028671 frameshift variant AATCC/- delins 4.0E-06 0.700 0
dbSNP: rs1553177672
rs1553177672
SDHB
1 1.000 0.080 1 17027762 frameshift variant TCTTC/CCTT delins 0.700 0
dbSNP: rs1553177679
rs1553177679
SDHB
1 1.000 0.080 1 17027799 stop gained G/A snv 0.700 0
dbSNP: rs1553177687
rs1553177687
SDHB
1 1.000 0.080 1 17027842 frameshift variant CTG/AGATACC delins 0.700 0
dbSNP: rs1553177688
rs1553177688
SDHB
1 1.000 0.080 1 17027843 frameshift variant -/CCATA ins 0.700 0
dbSNP: rs1553177739
rs1553177739
SDHB
1 1.000 0.080 1 17028631 frameshift variant G/- delins 0.700 0
dbSNP: rs1553177742
rs1553177742
SDHB
1 1.000 0.080 1 17028653 frameshift variant -/T ins 0.700 0
dbSNP: rs1553177772
rs1553177772
SDHB
1 1.000 0.080 1 17028739 splice region variant G/C snv 0.700 0
dbSNP: rs1553178040
rs1553178040
SDHB
1 1.000 0.080 1 17033071 stop gained G/T snv 0.700 0
dbSNP: rs1553178041
rs1553178041
SDHB
1 1.000 0.080 1 17033072 missense variant A/G snv 0.700 0