rs72466451

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs72466451(A;G)

Make rs72466451(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

197498763

Gene	HSPD1, HSPE1, HSPE1-MOB4

is a	snp
is	mentioned by
dbSNP	rs72466451
dbSNP (classic)	rs72466451
ClinGen	rs72466451
ebi	rs72466451
HLI	rs72466451
Exac	rs72466451
Gnomad	rs72466451
Varsome	rs72466451
LitVar	rs72466451
Map	rs72466451
PheGenI	rs72466451
Biobank	rs72466451
1000 genomes	rs72466451
hgdp	rs72466451
ensembl	rs72466451
geneview	rs72466451
scholar	rs72466451
google	rs72466451
pharmgkb	rs72466451
gwascentral	rs72466451
openSNP	rs72466451
23andMe	rs72466451
SNPshot	rs72466451
SNPdbe	rs72466451
MSV3d	rs72466451
GWAS Ctlg	rs72466451

Max Magnitude

0

OMIM	118190
Desc
Variant	0002
Related	also

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 UniProtKB (protein)
CLNACC	RCV000019113.25,