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rs727503963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727503963(A;G)
Make rs727503963(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position23808187
GeneHMGCL
is asnp
is mentioned by
dbSNPrs727503963
dbSNP (classic)rs727503963
ClinGenrs727503963
ebirs727503963
HLIrs727503963
Exacrs727503963
Gnomadrs727503963
Varsomers727503963
LitVarrs727503963
Maprs727503963
PheGenIrs727503963
Biobankrs727503963
1000 genomesrs727503963
hgdprs727503963
ensemblrs727503963
geneviewrs727503963
scholarrs727503963
googlers727503963
pharmgkbrs727503963
gwascentralrs727503963
openSNPrs727503963
23andMers727503963
SNPshotrs727503963
SNPdbers727503963
MSV3drs727503963
GWAS Ctlgrs727503963
Max Magnitude0
ClinVar
Risk rs727503963(G;G)
Alt rs727503963(G;G)
Reference Rs727503963(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene HMGCL
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.24134677T>C
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000153365.3,