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rs387906695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906695(C;C)
Make rs387906695(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position68530283
GenePRKAR1A
is asnp
is mentioned by
dbSNPrs387906695
dbSNP (classic)rs387906695
ClinGenrs387906695
ebirs387906695
HLIrs387906695
Exacrs387906695
Gnomadrs387906695
Varsomers387906695
LitVarrs387906695
Maprs387906695
PheGenIrs387906695
Biobankrs387906695
1000 genomesrs387906695
hgdprs387906695
ensemblrs387906695
geneviewrs387906695
scholarrs387906695
googlers387906695
pharmgkbrs387906695
gwascentralrs387906695
openSNPrs387906695
23andMers387906695
SNPshotrs387906695
SNPdbers387906695
MSV3drs387906695
GWAS Ctlgrs387906695
Max Magnitude0
ClinVar
Risk rs387906695(C;C)
Alt rs387906695(C;C)
Reference Rs387906695(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.66526424T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022794.23,