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rs387906693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906693(C;C)
Make rs387906693(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position68530420
GenePRKAR1A
is asnp
is mentioned by
dbSNPrs387906693
ebirs387906693
HLIrs387906693
Exacrs387906693
Varsomers387906693
Maprs387906693
PheGenIrs387906693
hapmaprs387906693
1000 genomesrs387906693
hgdprs387906693
ensemblrs387906693
gopubmedrs387906693
geneviewrs387906693
scholarrs387906693
googlers387906693
pharmgkbrs387906693
gwascentralrs387906693
openSNPrs387906693
23andMers387906693
23andMe allrs387906693
SNP Nexus

SNPshotrs387906693
SNPdbers387906693
MSV3drs387906693
GWAS Ctlgrs387906693
Max Magnitude0
ClinVar
Risk rs387906693(C;C)
Alt rs387906693(C;C)
Reference rs387906693(T;T)
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.66526561T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022792.24,