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rs774583397

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs774583397(C;G)
Make rs774583397(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position5973543
GenePMS2
is asnp
is mentioned by
dbSNPrs774583397
ebirs774583397
HLIrs774583397
Exacrs774583397
Varsomers774583397
Maprs774583397
PheGenIrs774583397
hapmaprs774583397
1000 genomesrs774583397
hgdprs774583397
ensemblrs774583397
gopubmedrs774583397
geneviewrs774583397
scholarrs774583397
googlers774583397
pharmgkbrs774583397
gwascentralrs774583397
openSNPrs774583397
23andMers774583397
23andMe allrs774583397
SNP Nexus

SNPshotrs774583397
SNPdbers774583397
MSV3drs774583397
GWAS Ctlgrs774583397
Max Magnitude0
ClinVar
Risk rs774583397(G;G)
Alt rs774583397(G;G)
Reference rs774583397(C;C)
Significance Probable-Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PMS2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000007.13:g.6013174C>A
CLNSRC
CLNACC RCV000221040.1,