rs267608688

Orientation

plus

Stabilized

plus

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

Make rs267608688(C;T)

Make rs267608688(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

106433739

Gene

POLR3B

is a	snp
is	mentioned by
dbSNP	rs267608688
dbSNP (classic)	rs267608688
ClinGen	rs267608688
ebi	rs267608688
HLI	rs267608688
Exac	rs267608688
Gnomad	rs267608688
Varsome	rs267608688
LitVar	rs267608688
Map	rs267608688
PheGenI	rs267608688
Biobank	rs267608688
1000 genomes	rs267608688
hgdp	rs267608688
ensembl	rs267608688
geneview	rs267608688
scholar	rs267608688
google	rs267608688
pharmgkb	rs267608688
gwascentral	rs267608688
openSNP	rs267608688
23andMe	rs267608688
SNPshot	rs267608688
SNPdbe	rs267608688
MSV3d	rs267608688
GWAS Ctlg	rs267608688

Max Magnitude

0

ClinVar
Risk	rs267608688(T;T)
Alt	rs267608688(T;T)
Reference	Rs267608688(C;C)
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.106827517C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024158.4,