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: rs1560417427
rs1560417427
KIT
1 4 54727433 protein altering variant ACAGTGGA/CC delins 0.700 0
dbSNP: rs1560417438
rs1560417438
KIT
1 4 54727436 frameshift variant GTGGAAGGTTGTTGAGGAG/- del 0.700 0
dbSNP: rs1560417535
rs1560417535
KIT
1 4 54727444 inframe deletion TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA/- del 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: rs1560417673
rs1560417673
KIT
1 4 54727489 inframe insertion -/ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT delins 0.700 0
dbSNP: rs1560420761
rs1560420761
KIT
1 4 54731338 frameshift variant AC/- del 0.700 0
dbSNP: rs267606600
rs267606600
NF1
4 1.000 0.120 17 31219018 frameshift variant AG/- del 1.4E-05 0.700 0
dbSNP: rs587776793
rs587776793
PDGFRA
1 4 54285934 inframe deletion CATGATTCGAAC/- del 0.700 0
dbSNP: rs587776794
rs587776794
PDGFRA
1 4 54274863 protein altering variant -/AGAGGG delins 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: rs587782617
rs587782617
SDHB
4 0.925 0.080 1 17023999 frameshift variant ATTTGTCTCC/- del 0.700 0
dbSNP: rs606231209
rs606231209
PDGFRA
1 4 54274883 inframe deletion AGCCCAGATGGACATGAA/- del 0.700 0
dbSNP: rs74315367
rs74315367
SDHB
5 0.882 0.080 1 17024025 missense variant G/C snv 4.0E-06 0.700 0
dbSNP: rs74315369
rs74315369
SDHB
6 0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05 0.700 0
dbSNP: rs747518441
rs747518441
SDHB
2 1.000 0.080 1 17022723 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs786202732
rs786202732
SDHB
5 0.882 0.080 1 17024041 missense variant A/G snv 0.700 0
dbSNP: rs786203506
rs786203506
SDHB
4 0.925 0.080 1 17028649 stop gained G/A;C;T snv 0.700 0
dbSNP: rs794728947
rs794728947
SDHB
4 0.925 0.080 1 17033135 frameshift variant -/G delins 4.0E-06 0.700 0
dbSNP: rs869025568
rs869025568
KIT
1 4 54727435 inframe deletion TGGAAG/- delins 0.700 0
dbSNP: rs876658713
rs876658713
SDHB
3 0.925 0.080 1 17033125 missense variant T/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs878854572
rs878854572
SDHB
3 0.925 0.080 1 17044835 frameshift variant A/- delins 0.700 0
dbSNP: rs200871174
rs200871174
MSLN ; MIR662
1 16 768475 missense variant C/T snv 7.8E-04 3.6E-04 0.010 1.000 1 2004 2004
dbSNP: rs780708976
rs780708976
KIT
1 4 54727456 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2005 2005