Gene: KIT ×
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: rs1560417673
rs1560417673
KIT
1 4 54727489 inframe insertion -/ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT 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: rs1553887262
rs1553887262
KIT
1 4 54695552 frameshift variant -/T ins 0.700 0
dbSNP: rs1560395607
rs1560395607
KIT
1 4 54698334 frameshift variant A/- delins 0.700 0
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.760 1.000 8 2001 2014
dbSNP: rs1057520031
rs1057520031
KIT
2 1.000 0.040 4 54727440 missense variant A/C;G snv 0.700 1.000 1 2006 2006
dbSNP: rs993022333
rs993022333
KIT
5 0.851 0.080 4 54733173 missense variant A/C;T snv 0.700 1.000 3 2007 2013
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2007 2014
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.020 1.000 2 2007 2014
dbSNP: rs121913234
rs121913234
KIT
1 4 54727414 splice region variant AAACCCATGTATGAAGTACAGTGGAAG/- delins 0.700 0
dbSNP: rs1560420761
rs1560420761
KIT
1 4 54731338 frameshift variant AC/- del 0.700 0
dbSNP: rs1560417427
rs1560417427
KIT
1 4 54727433 protein altering variant ACAGTGGA/CC delins 0.700 0
dbSNP: rs121913516
rs121913516
KIT
6 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.750 1.000 12 2004 2019
dbSNP: rs1560417396
rs1560417396
KIT
1 4 54727421 protein altering variant CATGTATG/AA delins 0.700 0
dbSNP: rs587776804
rs587776804
KIT
1 4 54727418 inframe deletion CCATGTATGAAGTAC/- delins 0.700 0
dbSNP: rs1560417385
rs1560417385
KIT
1 4 54727420 inframe deletion CCATGTATGAAGTACAGTGGA/- del 0.700 0
dbSNP: rs1060502521
rs1060502521
KIT
1 4 54733162 frameshift variant G/- del 0.700 0
dbSNP: rs121913520
rs121913520
KIT
4 1.000 0.080 4 54727443 missense variant G/A snv 0.710 1.000 3 2007 2013
dbSNP: rs1560418178
rs1560418178
KIT
1 4 54727909 missense variant G/A snv 0.700 1.000 3 1995 2007
dbSNP: rs121913509
rs121913509
KIT
2 1.000 0.080 4 54736528 missense variant G/A snv 0.700 1.000 2 2005 2014
dbSNP: rs17084733
rs17084733
KIT
2 1.000 0.080 4 54738774 3 prime UTR variant G/A snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs1057520032
rs1057520032
KIT
2 1.000 4 54727438 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.710 1.000 5 2005 2014
dbSNP: rs200375589
rs200375589
KIT
2 1.000 0.040 4 54727442 missense variant G/A;C;T snv 6.0E-05 0.700 1.000 1 2006 2006