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rs727503776

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503776(C;T)
Make rs727503776(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53415158
GeneSMC1A
is asnp
is mentioned by
dbSNPrs727503776
ebirs727503776
HLIrs727503776
Exacrs727503776
Varsomers727503776
Maprs727503776
PheGenIrs727503776
hapmaprs727503776
1000 genomesrs727503776
hgdprs727503776
ensemblrs727503776
gopubmedrs727503776
geneviewrs727503776
scholarrs727503776
googlers727503776
pharmgkbrs727503776
gwascentralrs727503776
openSNPrs727503776
23andMers727503776
23andMe allrs727503776
SNP Nexus

SNPshotrs727503776
SNPdbers727503776
MSV3drs727503776
GWAS Ctlgrs727503776
Max Magnitude0
ClinVar
Risk rs727503776(T;T)
Alt rs727503776(T;T)
Reference rs727503776(C;C)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene SMC1A
CLNDBN Wiedemann-Steiner syndrome
Reversed 1
HGVS NC_000023.10:g.53442107G>A
CLNSRC
CLNACC RCV000157052.1,