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rs1057515571

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057515571(-;-)
Make rs1057515571(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position5995591
GenePMS2
is asnp
is mentioned by
dbSNPrs1057515571
dbSNP (old)rs1057515571
ClinGenrs1057515571
ebirs1057515571
HLIrs1057515571
Exacrs1057515571
Gnomadrs1057515571
Varsomers1057515571
Maprs1057515571
PheGenIrs1057515571
Biobankrs1057515571
1000 genomesrs1057515571
hgdprs1057515571
ensemblrs1057515571
gopubmedrs1057515571
geneviewrs1057515571
scholarrs1057515571
googlers1057515571
pharmgkbrs1057515571
gwascentralrs1057515571
openSNPrs1057515571
23andMers1057515571
23andMe allrs1057515571
SNPshotrs1057515571
SNPdbers1057515571
MSV3drs1057515571
GWAS Ctlgrs1057515571
Max Magnitude0
ClinVar
Risk rs1057515571(-;-)
Alt rs1057515571(-;-)
Reference Rs1057515571(G;G)
Significance Pathogenic
Disease Hereditary nonpolyposis colorectal cancer type 4
Variation info
Gene PMS2
CLNDBN Hereditary nonpolyposis colorectal cancer type 4
Reversed 1
HGVS NC_000007.13:g.6035222delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009824.4,