Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057520031

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057520031(A;C)
Make rs1057520031(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position54727440
GeneKIT
is asnp
is mentioned by
dbSNPrs1057520031
dbSNP (old)rs1057520031
ClinGenrs1057520031
ebirs1057520031
HLIrs1057520031
Exacrs1057520031
Gnomadrs1057520031
Varsomers1057520031
Maprs1057520031
PheGenIrs1057520031
Biobankrs1057520031
1000 genomesrs1057520031
hgdprs1057520031
ensemblrs1057520031
gopubmedrs1057520031
geneviewrs1057520031
scholarrs1057520031
googlers1057520031
pharmgkbrs1057520031
gwascentralrs1057520031
openSNPrs1057520031
23andMers1057520031
23andMe allrs1057520031
SNPshotrs1057520031
SNPdbers1057520031
MSV3drs1057520031
GWAS Ctlgrs1057520031
Max Magnitude0
ClinVar
Risk rs1057520031(C;C) rs1057520031(G;G)
Alt rs1057520031(C;C) rs1057520031(G;G)
Reference Rs1057520031(A;A)
Significance Probable-Pathogenic
Disease Gastrointestinal stromal tumor
Variation info
Gene KIT
CLNDBN Gastrointestinal stromal tumor
Reversed 0
HGVS NC_000004.11:g.55593606A>C; NC_000004.11:g.55593606A>G
CLNSRC
CLNACC RCV000428356.1, RCV000429441.1,