rs755312623

Orientation

plus

Stabilized

plus

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

Make rs755312623(C;T)

Make rs755312623(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

106444495

Gene

POLR3B

is a	snp
is	mentioned by
dbSNP	rs755312623
dbSNP (classic)	rs755312623
ClinGen	rs755312623
ebi	rs755312623
HLI	rs755312623
Exac	rs755312623
Gnomad	rs755312623
Varsome	rs755312623
LitVar	rs755312623
Map	rs755312623
PheGenI	rs755312623
Biobank	rs755312623
1000 genomes	rs755312623
hgdp	rs755312623
ensembl	rs755312623
geneview	rs755312623
scholar	rs755312623
google	rs755312623
pharmgkb	rs755312623
gwascentral	rs755312623
openSNP	rs755312623
23andMe	rs755312623
SNPshot	rs755312623
SNPdbe	rs755312623
MSV3d	rs755312623
GWAS Ctlg	rs755312623

Max Magnitude

0

ClinVar
Risk	rs755312623(T;T)
Alt	rs755312623(T;T)
Reference	Rs755312623(C;C)
Significance	Probable-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.106838273C>T
CLNSRC
CLNACC	RCV000199616.1,