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rs149019598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 higher risk for papillary thyroid carcinoma
Make rs149019598(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position2761565
GeneSRRM2
is asnp
is mentioned by
dbSNPrs149019598
dbSNP (classic)rs149019598
ClinGenrs149019598
ebirs149019598
HLIrs149019598
Exacrs149019598
Gnomadrs149019598
Varsomers149019598
LitVarrs149019598
Maprs149019598
PheGenIrs149019598
Biobankrs149019598
1000 genomesrs149019598
hgdprs149019598
ensemblrs149019598
geneviewrs149019598
scholarrs149019598
googlers149019598
pharmgkbrs149019598
gwascentralrs149019598
openSNPrs149019598
23andMers149019598
SNPshotrs149019598
SNPdbers149019598
MSV3drs149019598
GWAS Ctlgrs149019598
Max Magnitude3

Papillary thyroid carcinoma (PTC) patients were genotyped and sequenced, and a mutation in the SRRM2 gene co-segregated with the disease in some but not all families - rs149019598, also known as c.1037C > T, Ser346Phe and S346F.[PMID 26135620OA-icon.png]