rs267608681

Orientation

minus

Stabilized

minus

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

Make rs267608681(A;A)

Make rs267608681(A;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

77993294

Gene

POLR3A

is a	snp
is	mentioned by
dbSNP	rs267608681
dbSNP (classic)	rs267608681
ClinGen	rs267608681
ebi	rs267608681
HLI	rs267608681
Exac	rs267608681
Gnomad	rs267608681
Varsome	rs267608681
LitVar	rs267608681
Map	rs267608681
PheGenI	rs267608681
Biobank	rs267608681
1000 genomes	rs267608681
hgdp	rs267608681
ensembl	rs267608681
geneview	rs267608681
scholar	rs267608681
google	rs267608681
pharmgkb	rs267608681
gwascentral	rs267608681
openSNP	rs267608681
23andMe	rs267608681
SNPshot	rs267608681
SNPdbe	rs267608681
MSV3d	rs267608681
GWAS Ctlg	rs267608681

Max Magnitude

0

ClinVar
Risk	rs267608681(A;A)
Alt	rs267608681(A;A)
Reference	Rs267608681(T;T)
Significance	Pathogenic
Disease	Hypomyelinating leukodystrophy 7
Variation	info
Gene	POLR3A
CLNDBN	Hypomyelinating leukodystrophy 7
Reversed	1
HGVS	NC_000010.10:g.79753052A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024144.3,