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rs1057518670

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518670(C;G)
Make rs1057518670(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position53415163
GeneSMC1A
is asnp
is mentioned by
dbSNPrs1057518670
dbSNP (old)rs1057518670
ClinGenrs1057518670
ebirs1057518670
HLIrs1057518670
Exacrs1057518670
Gnomadrs1057518670
Varsomers1057518670
Maprs1057518670
PheGenIrs1057518670
Biobankrs1057518670
1000 genomesrs1057518670
hgdprs1057518670
ensemblrs1057518670
gopubmedrs1057518670
geneviewrs1057518670
scholarrs1057518670
googlers1057518670
pharmgkbrs1057518670
gwascentralrs1057518670
openSNPrs1057518670
23andMers1057518670
23andMe allrs1057518670
SNPshotrs1057518670
SNPdbers1057518670
MSV3drs1057518670
GWAS Ctlgrs1057518670
Max Magnitude0
ClinVar
Risk rs1057518670(G;G)
Alt rs1057518670(G;G)
Reference Rs1057518670(C;C)
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.53442112G>C
CLNSRC
CLNACC RCV000415358.1,