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

rs797045993

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045993(A;A)
Make rs797045993(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53403617
GeneSMC1A
is asnp
is mentioned by
dbSNPrs797045993
ebirs797045993
HLIrs797045993
Exacrs797045993
Varsomers797045993
Maprs797045993
PheGenIrs797045993
hapmaprs797045993
1000 genomesrs797045993
hgdprs797045993
ensemblrs797045993
gopubmedrs797045993
geneviewrs797045993
scholarrs797045993
googlers797045993
pharmgkbrs797045993
gwascentralrs797045993
openSNPrs797045993
23andMers797045993
23andMe allrs797045993
SNP Nexus

SNPshotrs797045993
SNPdbers797045993
MSV3drs797045993
GWAS Ctlgrs797045993
Max Magnitude0
ClinVar
Risk rs797045993(A;A)
Alt rs797045993(A;A)
Reference rs797045993(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.53430549C>T
CLNSRC
CLNACC RCV000194474.1,