rs751459271

Orientation

plus

Stabilized

plus

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

Make rs751459271(A;G)

Make rs751459271(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

106504155

Gene	LOC100287944, POLR3B

is a	snp
is	mentioned by
dbSNP	rs751459271
dbSNP (classic)	rs751459271
ClinGen	rs751459271
ebi	rs751459271
HLI	rs751459271
Exac	rs751459271
Gnomad	rs751459271
Varsome	rs751459271
LitVar	rs751459271
Map	rs751459271
PheGenI	rs751459271
Biobank	rs751459271
1000 genomes	rs751459271
hgdp	rs751459271
ensembl	rs751459271
geneview	rs751459271
scholar	rs751459271
google	rs751459271
pharmgkb	rs751459271
gwascentral	rs751459271
openSNP	rs751459271
23andMe	rs751459271
SNPshot	rs751459271
SNPdbe	rs751459271
MSV3d	rs751459271
GWAS Ctlg	rs751459271

Max Magnitude

0

ClinVar
Risk	rs751459271(G;G)
Alt	rs751459271(G;G)
Reference	Rs751459271(A;A)
Significance	Probable-Pathogenic
Disease	Hypomyelinating leukodystrophy 8
Variation	info
Gene	LOC100287944 POLR3B
CLNDBN	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Reversed	0
HGVS	NC_000012.11:g.106897933A>G
CLNSRC
CLNACC	RCV000193260.1,