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rs1057519499

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519499(A;G)
Make rs1057519499(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position53382296
GeneSMC1A
is asnp
is mentioned by
dbSNPrs1057519499
dbSNP (old)rs1057519499
ClinGenrs1057519499
ebirs1057519499
HLIrs1057519499
Exacrs1057519499
Gnomadrs1057519499
Varsomers1057519499
Maprs1057519499
PheGenIrs1057519499
Biobankrs1057519499
1000 genomesrs1057519499
hgdprs1057519499
ensemblrs1057519499
gopubmedrs1057519499
geneviewrs1057519499
scholarrs1057519499
googlers1057519499
pharmgkbrs1057519499
gwascentralrs1057519499
openSNPrs1057519499
23andMers1057519499
23andMe allrs1057519499
SNPshotrs1057519499
SNPdbers1057519499
MSV3drs1057519499
GWAS Ctlgrs1057519499
Max Magnitude0
ClinVar
Risk rs1057519499(G;G)
Alt rs1057519499(G;G)
Reference Rs1057519499(A;A)
Significance Probable-Pathogenic
Disease Congenital muscular hypertrophy-cerebral syndrome
Variation info
Gene SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome
Reversed 1
HGVS NC_000023.10:g.53409217T>C
CLNSRC
CLNACC RCV000416533.1,