Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121908813
CIAO1 ; TMEM127
1.000 0.040 2 96265399 5 prime UTR variant G/A snv 1
rs121908815
CIAO1 ; TMEM127
1.000 0.040 2 96265306 stop gained G/A snv 1
rs121908818
CIAO1 ; TMEM127
0.925 0.080 2 96265224 stop gained C/G;T snv 7.0E-06 1
rs121913308
RET
0.827 0.120 10 43114492 missense variant A/C;G;T snv 1
rs377767405
RET
0.827 0.120 10 43114489 missense variant G/A;C;T snv 1
rs79661516
RET
0.882 0.080 10 43105018 missense variant G/A snv 1
rs121917755
SDHB
1.000 0.040 1 17028724 missense variant G/A;C snv 8.0E-06 1
rs727504457
SDHB
0.925 0.080 1 17033086 missense variant A/G snv 1
rs74315371
SDHB
1.000 0.040 1 17028721 missense variant C/T snv 1
rs864321636
SDHB
1.000 0.040 1 17028685 missense variant C/G snv 1
rs864321637
SDHB
1.000 0.040 1 17033095 missense variant T/G snv 1
rs864321638
SDHB
1.000 0.040 1 17033119 stop gained A/C snv 1
rs864321639
SDHB
1.000 0.040 1 17044822 inframe deletion ATCGATAGA/- del 1
rs876659329
SDHB
1.000 0.040 1 17044767 missense variant A/G;T snv 1
rs864321644
SDHD
1.000 0.040 11 112094873 frameshift variant T/- delins 1
rs104894310
SDHD ; TIMM8B
1.000 0.040 11 112086921 stop gained G/A snv 1
rs121908825
TMEM127
1.000 0.040 2 96254832 splice donor variant C/A snv 1
rs121908827
TMEM127
1.000 0.040 2 96254107 missense variant A/G snv 1
rs121908828
TMEM127
1.000 0.040 2 96254106 missense variant C/A;T snv 4.0E-06 1
rs121908829
TMEM127
1.000 0.040 2 96254078 stop gained C/T snv 1
rs121908831
TMEM127
1.000 0.040 2 96253884 frameshift variant -/TCTGAGAGCAGCTC delins 4.0E-06 1
rs267607170
VHL
0.882 0.200 3 10149814 missense variant A/G snv 1
rs397516444
VHL
0.882 0.200 3 10149808 missense variant G/A;T snv 4.0E-06 1
rs5030805
VHL
0.790 0.280 3 10142086 missense variant G/A;T snv 1
rs864321640
VHL
1.000 0.040 3 10149908 frameshift variant -/A delins 1