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rs1057519713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519713(C;C)
Make rs1057519713(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position54736498
GeneKIT
is asnp
is mentioned by
dbSNPrs1057519713
dbSNP (old)rs1057519713
ClinGenrs1057519713
ebirs1057519713
HLIrs1057519713
Exacrs1057519713
Gnomadrs1057519713
Varsomers1057519713
Maprs1057519713
PheGenIrs1057519713
Biobankrs1057519713
1000 genomesrs1057519713
hgdprs1057519713
ensemblrs1057519713
gopubmedrs1057519713
geneviewrs1057519713
scholarrs1057519713
googlers1057519713
pharmgkbrs1057519713
gwascentralrs1057519713
openSNPrs1057519713
23andMers1057519713
23andMe allrs1057519713
SNPshotrs1057519713
SNPdbers1057519713
MSV3drs1057519713
GWAS Ctlgrs1057519713
Max Magnitude0
ClinVar
Risk rs1057519713(C;C)
Alt rs1057519713(C;C)
Reference Rs1057519713(G;G)
Significance Pathogenic
Disease Malignant melanoma Gastrointestinal stromal tumor
Variation info
Gene KIT
CLNDBN Malignant melanoma Gastrointestinal stromal tumor
Reversed 0
HGVS NC_000004.11:g.55602664G>C
CLNSRC
CLNACC RCV000421785.1, RCV000428554.1,