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: rs7909236
rs7909236
CYP2C8
2 1.000 0.040 10 95069673 upstream gene variant G/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs1560417673
rs1560417673
KIT
1 4 54727489 inframe insertion -/ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT delins 0.700 0
dbSNP: rs1560417396
rs1560417396
KIT
1 4 54727421 protein altering variant CATGTATG/AA delins 0.700 0
dbSNP: rs1560417427
rs1560417427
KIT
1 4 54727433 protein altering variant ACAGTGGA/CC delins 0.700 0
dbSNP: rs1560417642
rs1560417642
KIT
1 4 54727482 protein altering variant -/ACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA delins 0.700 0
dbSNP: rs1560417666
rs1560417666
KIT
1 4 54727488 protein altering variant -/CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC delins 0.700 0
dbSNP: rs587776794
rs587776794
PDGFRA
1 4 54274863 protein altering variant -/AGAGGG delins 0.700 0
dbSNP: rs1060502543
rs1060502543
KIT
1 4 54727501 inframe deletion GAT/- delins 0.700 1.000 5 1998 2015
dbSNP: rs121913262
rs121913262
PDGFRA
1 4 54285925 inframe deletion GACATCATG/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913267
rs121913267
PDGFRA
1 4 54285928 inframe deletion ATCATGCATGAT/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913269
rs121913269
PDGFRA
1 4 54285921 inframe deletion GAGACA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1553906053
rs1553906053
PDGFRA
1 4 54285925 inframe deletion CATCATGCATGA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs121913685
rs121913685
KIT
4 0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 0.700 0
dbSNP: rs1560417385
rs1560417385
KIT
1 4 54727420 inframe deletion CCATGTATGAAGTACAGTGGA/- del 0.700 0
dbSNP: rs1560417535
rs1560417535
KIT
1 4 54727444 inframe deletion TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA/- del 0.700 0
dbSNP: rs587776793
rs587776793
PDGFRA
1 4 54285934 inframe deletion CATGATTCGAAC/- del 0.700 0
dbSNP: rs587776795
rs587776795
PDGFRA
1 4 54274865 inframe deletion GGGTCATTGAATCAA/- delins 0.700 0
dbSNP: rs587776804
rs587776804
KIT
1 4 54727418 inframe deletion CCATGTATGAAGTAC/- delins 0.700 0
dbSNP: rs606231209
rs606231209
PDGFRA
1 4 54274883 inframe deletion AGCCCAGATGGACATGAA/- del 0.700 0
dbSNP: rs869025568
rs869025568
KIT
1 4 54727435 inframe deletion TGGAAG/- delins 0.700 0
dbSNP: rs1131691049
rs1131691049
SDHB
5 0.882 0.080 1 17054019 start lost T/A snv 0.700 1.000 9 2003 2013
dbSNP: rs755235380
rs755235380
SDHC
3 1.000 0.080 1 161314406 start lost A/G snv 4.0E-06 1.4E-05 0.700 1.000 7 2000 2013
dbSNP: rs587776652
rs587776652
SDHC
4 0.882 0.200 1 161314408 start lost G/A snv 0.700 1.000 2 2000 2012
dbSNP: rs1312268347
rs1312268347
SARDH
4 0.925 0.120 9 133734172 start lost A/G snv 5.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs750380279
rs750380279
SDHA ; CCDC127
6 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 0.010 1.000 1 2019 2019