rs267608678

Orientation

minus

Stabilized

minus

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

Make rs267608678(C;T)

Make rs267608678(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

78025043

Gene

POLR3A

is a	snp
is	mentioned by
dbSNP	rs267608678
dbSNP (classic)	rs267608678
ClinGen	rs267608678
ebi	rs267608678
HLI	rs267608678
Exac	rs267608678
Gnomad	rs267608678
Varsome	rs267608678
LitVar	rs267608678
Map	rs267608678
PheGenI	rs267608678
Biobank	rs267608678
1000 genomes	rs267608678
hgdp	rs267608678
ensembl	rs267608678
geneview	rs267608678
scholar	rs267608678
google	rs267608678
pharmgkb	rs267608678
gwascentral	rs267608678
openSNP	rs267608678
23andMe	rs267608678
SNPshot	rs267608678
SNPdbe	rs267608678
MSV3d	rs267608678
GWAS Ctlg	rs267608678

Max Magnitude

0

ClinVar
Risk	rs267608678(T;T)
Alt	rs267608678(T;T)
Reference	Rs267608678(C;C)
Significance	Pathogenic
Disease	Hypomyelinating leukodystrophy 7
Variation	info
Gene	POLR3A
CLNDBN	Hypomyelinating leukodystrophy 7
Reversed	1
HGVS	NC_000010.10:g.79784801G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024143.4,