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: rs1060502521
rs1060502521
KIT
1 4 54733162 frameshift variant G/- del 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: 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: 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
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: rs587776804
rs587776804
KIT
1 4 54727418 inframe deletion CCATGTATGAAGTAC/- delins 0.700 0
dbSNP: rs869025568
rs869025568
KIT
1 4 54727435 inframe deletion TGGAAG/- delins 0.700 0
dbSNP: rs121913521
rs121913521
KIT
12 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.740 0.875 8 1999 2016
dbSNP: rs121913523
rs121913523
KIT
2 1.000 0.040 4 54728092 missense variant T/A;C snv 0.730 0.900 10 2005 2019
dbSNP: rs121913517
rs121913517
KIT
6 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.850 1.000 16 1998 2017
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: rs121913235
rs121913235
KIT
3 0.925 0.080 4 54727437 missense variant T/A;C;G snv 0.730 1.000 9 1999 2018
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: rs1060502543
rs1060502543
KIT
1 4 54727501 inframe deletion GAT/- delins 0.700 1.000 5 1998 2015
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