Have questions? Visit https://www.reddit.com/r/SNPedia

rs727503773

From SNPedia

Orientationminus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
Make rs727503773(-;-)
Make rs727503773(-;AAG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position53412950
GeneSMC1A
is asnp
is mentioned by
dbSNPrs727503773
ebirs727503773
HLIrs727503773
Exacrs727503773
Varsomers727503773
Maprs727503773
PheGenIrs727503773
hapmaprs727503773
1000 genomesrs727503773
hgdprs727503773
ensemblrs727503773
gopubmedrs727503773
geneviewrs727503773
scholarrs727503773
googlers727503773
pharmgkbrs727503773
gwascentralrs727503773
openSNPrs727503773
23andMers727503773
23andMe allrs727503773
SNP Nexus

SNPshotrs727503773
SNPdbers727503773
MSV3drs727503773
GWAS Ctlgrs727503773
Max Magnitude0
ClinVar
Risk rs727503773(;)
Alt rs727503773(;)
Reference rs727503773(AAG;AAG)
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.53439900_53439902delCTT
CLNSRC
CLNACC RCV000157049.2,