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rs387906694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906694(C;C)
Make rs387906694(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position68530307
GenePRKAR1A
is asnp
is mentioned by
dbSNPrs387906694
ebirs387906694
HLIrs387906694
Exacrs387906694
Varsomers387906694
Maprs387906694
PheGenIrs387906694
hapmaprs387906694
1000 genomesrs387906694
hgdprs387906694
ensemblrs387906694
gopubmedrs387906694
geneviewrs387906694
scholarrs387906694
googlers387906694
pharmgkbrs387906694
gwascentralrs387906694
openSNPrs387906694
23andMers387906694
23andMe allrs387906694
SNP Nexus

SNPshotrs387906694
SNPdbers387906694
MSV3drs387906694
GWAS Ctlgrs387906694
Max Magnitude0
ClinVar
Risk rs387906694(C;C)
Alt rs387906694(C;C)
Reference rs387906694(G;G)
Significance Pathogenic
Disease Acrodysostosis 1 with or without hormone resistance
Variation info
Gene PRKAR1A
CLNDBN Acrodysostosis 1 with or without hormone resistance
Reversed 0
HGVS NC_000017.10:g.66526448G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022793.26,