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rs387906702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906702(C;C)
Make rs387906702(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53403635
GeneSMC1A
is asnp
is mentioned by
dbSNPrs387906702
ebirs387906702
HLIrs387906702
Exacrs387906702
Varsomers387906702
Maprs387906702
PheGenIrs387906702
hapmaprs387906702
1000 genomesrs387906702
hgdprs387906702
ensemblrs387906702
gopubmedrs387906702
geneviewrs387906702
scholarrs387906702
googlers387906702
pharmgkbrs387906702
gwascentralrs387906702
openSNPrs387906702
23andMers387906702
23andMe allrs387906702
SNP Nexus

SNPshotrs387906702
SNPdbers387906702
MSV3drs387906702
GWAS Ctlgrs387906702
Max Magnitude0
ClinVar
Risk rs387906702(C;C)
Alt rs387906702(C;C)
Reference rs387906702(T;T)
Significance Other
Disease Congenital muscular hypertrophy-cerebral syndrome
Variation info
Gene SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome
Reversed 1
HGVS NC_000023.10:g.53430567A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022820.22,