rs267608685

Orientation

plus

Stabilized

plus

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

Make rs267608685(A;T)

Make rs267608685(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

106463593

Gene

POLR3B

is a	snp
is	mentioned by
dbSNP	rs267608685
dbSNP (classic)	rs267608685
ClinGen	rs267608685
ebi	rs267608685
HLI	rs267608685
Exac	rs267608685
Gnomad	rs267608685
Varsome	rs267608685
LitVar	rs267608685
Map	rs267608685
PheGenI	rs267608685
Biobank	rs267608685
1000 genomes	rs267608685
hgdp	rs267608685
ensembl	rs267608685
geneview	rs267608685
scholar	rs267608685
google	rs267608685
pharmgkb	rs267608685
gwascentral	rs267608685
openSNP	rs267608685
23andMe	rs267608685
SNPshot	rs267608685
SNPdbe	rs267608685
MSV3d	rs267608685
GWAS Ctlg	rs267608685

Max Magnitude

0

ClinVar
Risk	rs267608685(T;T)
Alt	rs267608685(T;T)
Reference	Rs267608685(A;A)
Significance	Pathogenic
Disease	Hypomyelinating leukodystrophy 8
Variation	info
Gene	POLR3B
CLNDBN	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Reversed	0
HGVS	NC_000012.11:g.106857371A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032281.4,