rs267608682

Orientation

minus

Stabilized

minus

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

Make rs267608682(C;T)

Make rs267608682(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

77985961

Gene

POLR3A

is a	snp
is	mentioned by
dbSNP	rs267608682
dbSNP (classic)	rs267608682
ClinGen	rs267608682
ebi	rs267608682
HLI	rs267608682
Exac	rs267608682
Gnomad	rs267608682
Varsome	rs267608682
LitVar	rs267608682
Map	rs267608682
PheGenI	rs267608682
Biobank	rs267608682
1000 genomes	rs267608682
hgdp	rs267608682
ensembl	rs267608682
geneview	rs267608682
scholar	rs267608682
google	rs267608682
pharmgkb	rs267608682
gwascentral	rs267608682
openSNP	rs267608682
23andMe	rs267608682
SNPshot	rs267608682
SNPdbe	rs267608682
MSV3d	rs267608682
GWAS Ctlg	rs267608682

Max Magnitude

0

ClinVar
Risk	rs267608682(T;T)
Alt	rs267608682(T;T)
Reference	Rs267608682(C;C)
Significance	Pathogenic
Disease	Hypomyelinating leukodystrophy 7
Variation	info
Gene	POLR3A
CLNDBN	Hypomyelinating leukodystrophy 7
Reversed	1
HGVS	NC_000010.10:g.79745719G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024145.3,