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rs122454122

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs122454122(A;C)
Make rs122454122(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53409129
GeneSMC1A
is asnp
is mentioned by
dbSNPrs122454122
ebirs122454122
HLIrs122454122
Exacrs122454122
Varsomers122454122
Maprs122454122
PheGenIrs122454122
hapmaprs122454122
1000 genomesrs122454122
hgdprs122454122
ensemblrs122454122
gopubmedrs122454122
geneviewrs122454122
scholarrs122454122
googlers122454122
pharmgkbrs122454122
gwascentralrs122454122
openSNPrs122454122
23andMers122454122
23andMe allrs122454122
SNP Nexus

SNPshotrs122454122
SNPdbers122454122
MSV3drs122454122
GWAS Ctlgrs122454122
Max Magnitude0
OMIM300040
Desc
Variant0002
Relatedalso
ClinVar
Risk rs122454122(C;C)
Alt rs122454122(C;C)
Reference rs122454122(A;A)
Significance Pathogenic
Disease Congenital muscular hypertrophy-cerebral syndrome
Variation info
Gene SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome
Reversed 1
HGVS NC_000023.10:g.53436060T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012439.22,