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rs1057520034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057520034(AA;AA)
Make rs1057520034(AA;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position54727447
GeneKIT
is asnp
is mentioned by
dbSNPrs1057520034
dbSNP (old)rs1057520034
ClinGenrs1057520034
ebirs1057520034
HLIrs1057520034
Exacrs1057520034
Gnomadrs1057520034
Varsomers1057520034
Maprs1057520034
PheGenIrs1057520034
Biobankrs1057520034
1000 genomesrs1057520034
hgdprs1057520034
ensemblrs1057520034
gopubmedrs1057520034
geneviewrs1057520034
scholarrs1057520034
googlers1057520034
pharmgkbrs1057520034
gwascentralrs1057520034
openSNPrs1057520034
23andMers1057520034
23andMe allrs1057520034
SNPshotrs1057520034
SNPdbers1057520034
MSV3drs1057520034
GWAS Ctlgrs1057520034
Max Magnitude0
ClinVar
Risk rs1057520034(AA;AA)
Alt rs1057520034(AA;AA)
Reference Rs1057520034(TT;TT)
Significance Probable-Pathogenic
Disease Gastrointestinal stromal tumor
Variation info
Gene KIT
CLNDBN Gastrointestinal stromal tumor
Reversed 0
HGVS NC_000004.11:g.55593613_55593614delTTinsAA
CLNSRC
CLNACC RCV000422073.1,