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: rs1057518903
rs1057518903
MEN1
6 0.882 0.160 11 64807890 splice region variant C/- delins 0.700 0
dbSNP: rs1060502521
rs1060502521
KIT
1 4 54733162 frameshift variant G/- del 0.700 0
dbSNP: rs1060503752
rs1060503752
SDHB
3 0.925 0.080 1 17023994 frameshift variant CA/- del 0.700 0
dbSNP: rs1060503753
rs1060503753
SDHB
3 0.925 0.080 1 17027790 stop gained T/A snv 0.700 0
dbSNP: rs1060503759
rs1060503759
SDHB
3 0.925 0.080 1 17024013 stop gained C/T snv 0.700 0
dbSNP: rs1060503762
rs1060503762
SDHB
3 0.925 0.080 1 17044820 stop gained C/T snv 0.700 0
dbSNP: rs1060503763
rs1060503763
SDHB
3 0.925 0.080 1 17027848 stop gained A/C snv 0.700 0
dbSNP: rs1060503764
rs1060503764
SDHB
4 0.925 0.080 1 17022655 frameshift variant -/A delins 0.700 0
dbSNP: rs121913234
rs121913234
KIT
1 4 54727414 splice region variant AAACCCATGTATGAAGTACAGTGGAAG/- delins 0.700 0
dbSNP: rs121913685
rs121913685
KIT
4 0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 0.700 0
dbSNP: rs1553176976
rs1553176976
SDHB
3 0.925 0.080 1 17018936 frameshift variant -/AGCT delins 0.700 0
dbSNP: rs1553176979
rs1553176979
SDHB
3 0.925 0.080 1 17018938 frameshift variant -/C ins 0.700 0
dbSNP: rs1553177436
rs1553177436
SDHB
3 0.925 0.080 1 17024007 frameshift variant C/- delins 0.700 0
dbSNP: rs1553177676
rs1553177676
SDHB
3 0.925 0.080 1 17027784 stop gained G/A snv 0.700 0
dbSNP: rs1553178726
rs1553178726
SDHB
3 0.925 0.080 1 17044756 splice region variant C/G snv 0.700 0
dbSNP: rs1553264218
rs1553264218
SDHC
2 1.000 0.080 1 161340629 frameshift variant G/- del 0.700 0
dbSNP: rs1553887262
rs1553887262
KIT
1 4 54695552 frameshift variant -/T ins 0.700 0
dbSNP: rs1553887960
rs1553887960
KIT
1 4 54699760 frameshift variant TCAG/- delins 0.700 0
dbSNP: rs1555534379
rs1555534379
NF1
3 1.000 0.120 17 31334856 frameshift variant T/- delins 0.700 0
dbSNP: rs1557738304
rs1557738304
SDHB
3 0.925 0.080 1 17018943 frameshift variant -/C delins 0.700 0
dbSNP: rs1557741425
rs1557741425
SDHB
3 0.925 0.080 1 17028623 frameshift variant -/C delins 0.700 0
dbSNP: rs1558182956
rs1558182956
SDHC
2 1.000 0.080 1 161356840 splice donor variant G/- delins 0.700 0
dbSNP: rs1560395607
rs1560395607
KIT
1 4 54698334 frameshift variant A/- delins 0.700 0
dbSNP: rs1560417385
rs1560417385
KIT
1 4 54727420 inframe deletion CCATGTATGAAGTACAGTGGA/- del 0.700 0
dbSNP: rs1560417396
rs1560417396
KIT
1 4 54727421 protein altering variant CATGTATG/AA delins 0.700 0