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rs122454123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122454123(A;A)
Make rs122454123(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53409120
GeneSMC1A
is asnp
is mentioned by
dbSNPrs122454123
ebirs122454123
HLIrs122454123
Exacrs122454123
Varsomers122454123
Maprs122454123
PheGenIrs122454123
hapmaprs122454123
1000 genomesrs122454123
hgdprs122454123
ensemblrs122454123
gopubmedrs122454123
geneviewrs122454123
scholarrs122454123
googlers122454123
pharmgkbrs122454123
gwascentralrs122454123
openSNPrs122454123
23andMers122454123
23andMe allrs122454123
SNP Nexus

SNPshotrs122454123
SNPdbers122454123
MSV3drs122454123
GWAS Ctlgrs122454123
Max Magnitude0
OMIM300040
Desc
Variant0004
Relatedalso
ClinVar
Risk rs122454123(A;A)
Alt rs122454123(A;A)
Reference rs122454123(G;G)
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.53436051C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012441.14,