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rs727503774

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727503774(A;G)
Make rs727503774(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53383255
GeneSMC1A
is asnp
is mentioned by
dbSNPrs727503774
ebirs727503774
HLIrs727503774
Exacrs727503774
Varsomers727503774
Maprs727503774
PheGenIrs727503774
hapmaprs727503774
1000 genomesrs727503774
hgdprs727503774
ensemblrs727503774
gopubmedrs727503774
geneviewrs727503774
scholarrs727503774
googlers727503774
pharmgkbrs727503774
gwascentralrs727503774
openSNPrs727503774
23andMers727503774
23andMe allrs727503774
SNP Nexus

SNPshotrs727503774
SNPdbers727503774
MSV3drs727503774
GWAS Ctlgrs727503774
Max Magnitude0
ClinVar
Risk rs727503774(G;G)
Alt rs727503774(G;G)
Reference rs727503774(A;A)
Significance Pathogenic
Disease Congenital muscular hypertrophy-cerebral syndrome Wiedemann-Steiner syndrome
Variation info
Gene SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome Wiedemann-Steiner syndrome
Reversed 1
HGVS NC_000023.10:g.53410176T>C
CLNSRC
CLNACC RCV000157050.1,