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rs72466451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72466451(A;G)
Make rs72466451(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position197498763
GeneHSPD1, HSPE1
is asnp
is mentioned by
dbSNPrs72466451
ebirs72466451
HLIrs72466451
Exacrs72466451
Varsomers72466451
Maprs72466451
PheGenIrs72466451
hapmaprs72466451
1000 genomesrs72466451
hgdprs72466451
ensemblrs72466451
gopubmedrs72466451
geneviewrs72466451
scholarrs72466451
googlers72466451
pharmgkbrs72466451
gwascentralrs72466451
openSNPrs72466451
23andMers72466451
23andMe allrs72466451
SNP Nexus

SNPshotrs72466451
SNPdbers72466451
MSV3drs72466451
GWAS Ctlgrs72466451
Max Magnitude0
OMIM118190
Desc
Variant0002
Relatedalso


ClinVar
Risk rs72466451(G;G)
Alt rs72466451(G;G)
Reference rs72466451(A;A)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene HSPE1-MOB4 HSPD1 HSPE1
CLNDBN Leukodystrophy, hypomyelinating, 4
Reversed 1
HGVS NC_000002.11:g.198363487T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019113.25,