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rs730880307

From SNPedia

Orientationminus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs730880307(-;-)
Make rs730880307(-;TA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178447554
GenePRKRA
is asnp
is mentioned by
dbSNPrs730880307
ebirs730880307
HLIrs730880307
Exacrs730880307
Varsomers730880307
Maprs730880307
PheGenIrs730880307
hapmaprs730880307
1000 genomesrs730880307
hgdprs730880307
ensemblrs730880307
gopubmedrs730880307
geneviewrs730880307
scholarrs730880307
googlers730880307
pharmgkbrs730880307
gwascentralrs730880307
openSNPrs730880307
23andMers730880307
23andMe allrs730880307
SNP Nexus

SNPshotrs730880307
SNPdbers730880307
MSV3drs730880307
GWAS Ctlgrs730880307
Max Magnitude0
ClinVar
Risk rs730880307(;)
Alt rs730880307(;)
Reference rs730880307(TA;TA)
Significance Pathogenic
Disease Dystonia 16
Variation info
Gene PRKRA
CLNDBN Dystonia 16
Reversed 1
HGVS NC_000002.11:g.179312281_179312282delTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006719.4,