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rs12507099

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs12507099(C;G)
Make rs12507099(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position78911552
GeneBMP2K, PAQR3
is asnp
is mentioned by
dbSNPrs12507099
ebirs12507099
HLIrs12507099
Exacrs12507099
Varsomers12507099
Maprs12507099
PheGenIrs12507099
hapmaprs12507099
1000 genomesrs12507099
hgdprs12507099
ensemblrs12507099
gopubmedrs12507099
geneviewrs12507099
scholarrs12507099
googlers12507099
pharmgkbrs12507099
gwascentralrs12507099
openSNPrs12507099
23andMers12507099
23andMe allrs12507099
SNP Nexus

SNPshotrs12507099
SNPdbers12507099
MSV3drs12507099
GWAS Ctlgrs12507099
GMAF0.1263
Max Magnitude0
? (C;C) (C;G) (G;G) 28

[PMID 19927351] A novel genetic variant of BMP2K contributes to high myopia


GET Evidence
BMP2K-T1002S
aa_change Thr1002Ser
aa_change_short T1002S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0664307
summary