rs267608673

Orientation

minus

Stabilized

minus

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

Make rs267608673(A;A)

Make rs267608673(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

78021617

Gene

POLR3A

is a	snp
is	mentioned by
dbSNP	rs267608673
dbSNP (classic)	rs267608673
ClinGen	rs267608673
ebi	rs267608673
HLI	rs267608673
Exac	rs267608673
Gnomad	rs267608673
Varsome	rs267608673
LitVar	rs267608673
Map	rs267608673
PheGenI	rs267608673
Biobank	rs267608673
1000 genomes	rs267608673
hgdp	rs267608673
ensembl	rs267608673
geneview	rs267608673
scholar	rs267608673
google	rs267608673
pharmgkb	rs267608673
gwascentral	rs267608673
openSNP	rs267608673
23andMe	rs267608673
SNPshot	rs267608673
SNPdbe	rs267608673
MSV3d	rs267608673
GWAS Ctlg	rs267608673

Max Magnitude

0

ClinVar
Risk	rs267608673(A;A)
Alt	rs267608673(A;A)
Reference	Rs267608673(G;G)
Significance	Pathogenic
Disease	Hypomyelinating leukodystrophy 7
Variation	info
Gene	POLR3A
CLNDBN	Hypomyelinating leukodystrophy 7
Reversed	1
HGVS	NC_000010.10:g.79781375C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000034140.2,