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rs551236750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs551236750(C;T)
Make rs551236750(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position12717760
GeneCDKN1B, GPR19
is asnp
is mentioned by
dbSNPrs551236750
dbSNP (classic)rs551236750
ClinGenrs551236750
ebirs551236750
HLIrs551236750
Exacrs551236750
Gnomadrs551236750
Varsomers551236750
LitVarrs551236750
Maprs551236750
PheGenIrs551236750
Biobankrs551236750
1000 genomesrs551236750
hgdprs551236750
ensemblrs551236750
geneviewrs551236750
scholarrs551236750
googlers551236750
pharmgkbrs551236750
gwascentralrs551236750
openSNPrs551236750
23andMers551236750
SNPshotrs551236750
SNPdbers551236750
MSV3drs551236750
GWAS Ctlgrs551236750
Max Magnitude0
ClinVar
Risk rs551236750(T;T)
Alt rs551236750(T;T)
Reference Rs551236750(C;C)
Significance Pathogenic
Disease Primary hyperparathyroidism
Variation info
Gene LOC101929220 CDKN1B
CLNDBN Primary hyperparathyroidism
Reversed 0
HGVS NC_000012.11:g.12870694C>T
CLNSRC
CLNACC RCV000210356.1,