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rs797045992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs797045992(-;-)
Make rs797045992(-;AGA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53405255
GeneMIR6857, SMC1A
is asnp
is mentioned by
dbSNPrs797045992
dbSNP (old)rs797045992
ClinGenrs797045992
ebirs797045992
HLIrs797045992
Exacrs797045992
Gnomadrs797045992
Varsomers797045992
Maprs797045992
PheGenIrs797045992
Biobankrs797045992
1000 genomesrs797045992
hgdprs797045992
ensemblrs797045992
gopubmedrs797045992
geneviewrs797045992
scholarrs797045992
googlers797045992
pharmgkbrs797045992
gwascentralrs797045992
openSNPrs797045992
23andMers797045992
23andMe allrs797045992
SNP Nexus

SNPshotrs797045992
SNPdbers797045992
MSV3drs797045992
GWAS Ctlgrs797045992
Max Magnitude0
ClinVar
Risk rs797045992(-;-)
Alt rs797045992(-;-)
Reference Rs797045992(AGA;AGA)
Significance Probable-Pathogenic
Disease Congenital muscular hypertrophy-cerebral syndrome
Variation info
Gene MIR6857 SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome
Reversed 1
HGVS NC_000023.10:g.53432187_53432189delTCT
CLNSRC
CLNACC RCV000193116.1,