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rs587776715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs587776715(-;-)
Make rs587776715(-;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position5987544
GenePMS2
is asnp
is mentioned by
dbSNPrs587776715
ebirs587776715
HLIrs587776715
Exacrs587776715
Varsomers587776715
Maprs587776715
PheGenIrs587776715
hapmaprs587776715
1000 genomesrs587776715
hgdprs587776715
ensemblrs587776715
gopubmedrs587776715
geneviewrs587776715
scholarrs587776715
googlers587776715
pharmgkbrs587776715
gwascentralrs587776715
openSNPrs587776715
23andMers587776715
23andMe allrs587776715
SNP Nexus

SNPshotrs587776715
SNPdbers587776715
MSV3drs587776715
GWAS Ctlgrs587776715
Max Magnitude0
ClinVar
Risk rs587776715(CA,A;CA,A)
Alt rs587776715(CA,A;CA,A)
Reference rs587776715(GA;GA)
Significance Pathogenic
Disease Turcot syndrome Lynch syndrome
Variation info
Gene PMS2
CLNDBN Turcot syndrome Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6027175delC
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000009816.2, RCV000076802.2,