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rs730882199

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882199(C;T)
Make rs730882199(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218814623
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs730882199
ebirs730882199
HLIrs730882199
Exacrs730882199
Varsomers730882199
Maprs730882199
PheGenIrs730882199
hapmaprs730882199
1000 genomesrs730882199
hgdprs730882199
ensemblrs730882199
gopubmedrs730882199
geneviewrs730882199
scholarrs730882199
googlers730882199
pharmgkbrs730882199
gwascentralrs730882199
openSNPrs730882199
23andMers730882199
23andMe allrs730882199
SNP Nexus

SNPshotrs730882199
SNPdbers730882199
MSV3drs730882199
GWAS Ctlgrs730882199
Max Magnitude0
ClinVar
Risk rs730882199(A,T;A,T)
Alt rs730882199(A,T;A,T)
Reference rs730882199(C;C)
Significance Probable-Pathogenic
Disease Regression of motor development with severe dystonia and corresponding basal ganglia lesions not provided
Variation info
Gene CYP27A1
CLNDBN Regression of motor development with severe dystonia and corresponding basal ganglia lesions not provided
Reversed 0
HGVS NC_000002.11:g.219679346C>T
CLNSRC
CLNACC RCV000162100.1, RCV000171331.1,