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rs387906692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906692(C;T)
Make rs387906692(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position68530405
GenePRKAR1A
is asnp
is mentioned by
dbSNPrs387906692
ebirs387906692
HLIrs387906692
Exacrs387906692
Varsomers387906692
Maprs387906692
PheGenIrs387906692
hapmaprs387906692
1000 genomesrs387906692
hgdprs387906692
ensemblrs387906692
gopubmedrs387906692
geneviewrs387906692
scholarrs387906692
googlers387906692
pharmgkbrs387906692
gwascentralrs387906692
openSNPrs387906692
23andMers387906692
23andMe allrs387906692
SNP Nexus

SNPshotrs387906692
SNPdbers387906692
MSV3drs387906692
GWAS Ctlgrs387906692
Max Magnitude0
ClinVar
Risk rs387906692(T;T)
Alt rs387906692(T;T)
Reference rs387906692(C;C)
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.66526546C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022791.25,