rs267608672

Orientation

minus

Stabilized

minus

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

Make rs267608672(A;T)

Make rs267608672(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

78002232

Gene

POLR3A

is a	snp
is	mentioned by
dbSNP	rs267608672
dbSNP (classic)	rs267608672
ClinGen	rs267608672
ebi	rs267608672
HLI	rs267608672
Exac	rs267608672
Gnomad	rs267608672
Varsome	rs267608672
LitVar	rs267608672
Map	rs267608672
PheGenI	rs267608672
Biobank	rs267608672
1000 genomes	rs267608672
hgdp	rs267608672
ensembl	rs267608672
geneview	rs267608672
scholar	rs267608672
google	rs267608672
pharmgkb	rs267608672
gwascentral	rs267608672
openSNP	rs267608672
23andMe	rs267608672
SNPshot	rs267608672
SNPdbe	rs267608672
MSV3d	rs267608672
GWAS Ctlg	rs267608672

Max Magnitude

0

ClinVar
Risk	rs267608672(T;T)
Alt	rs267608672(T;T)
Reference	Rs267608672(A;A)
Significance	Pathogenic
Disease	Hypomyelinating leukodystrophy 7
Variation	info
Gene	POLR3A
CLNDBN	Hypomyelinating leukodystrophy 7
Reversed	1
HGVS	NC_000010.10:g.79761990T>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000034144.2,