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rs1057519398

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519398(-;C)
Make rs1057519398(C;C)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position53409218
GeneSMC1A
is asnp
is mentioned by
dbSNPrs1057519398
dbSNP (old)rs1057519398
ClinGenrs1057519398
ebirs1057519398
HLIrs1057519398
Exacrs1057519398
Gnomadrs1057519398
Varsomers1057519398
Maprs1057519398
PheGenIrs1057519398
Biobankrs1057519398
1000 genomesrs1057519398
hgdprs1057519398
ensemblrs1057519398
gopubmedrs1057519398
geneviewrs1057519398
scholarrs1057519398
googlers1057519398
pharmgkbrs1057519398
gwascentralrs1057519398
openSNPrs1057519398
23andMers1057519398
23andMe allrs1057519398
SNPshotrs1057519398
SNPdbers1057519398
MSV3drs1057519398
GWAS Ctlgrs1057519398
Max Magnitude0
ClinVar
Risk rs1057519398(C;C)
Alt rs1057519398(C;C)
Reference Rs1057519398(-;-)
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.53436149_53436150insG
CLNSRC
CLNACC RCV000417105.1,