rs796052127

Orientation

plus

Stabilized

plus

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

Make rs796052127(A;A)

Make rs796052127(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

43519782

Gene

POLR1C

is a	snp
is	mentioned by
dbSNP	rs796052127
dbSNP (classic)	rs796052127
ClinGen	rs796052127
ebi	rs796052127
HLI	rs796052127
Exac	rs796052127
Gnomad	rs796052127
Varsome	rs796052127
LitVar	rs796052127
Map	rs796052127
PheGenI	rs796052127
Biobank	rs796052127
1000 genomes	rs796052127
hgdp	rs796052127
ensembl	rs796052127
geneview	rs796052127
scholar	rs796052127
google	rs796052127
pharmgkb	rs796052127
gwascentral	rs796052127
openSNP	rs796052127
23andMe	rs796052127
SNPshot	rs796052127
SNPdbe	rs796052127
MSV3d	rs796052127
GWAS Ctlg	rs796052127

Max Magnitude

0

ClinVar
Risk	rs796052127(A;A)
Alt	rs796052127(A;A)
Reference	Rs796052127(G;G)
Significance	Pathogenic
Disease	Leukodystrophy
Variation	info
Gene	POLR1C
CLNDBN	Leukodystrophy, hypomyelinating, 11
Reversed	0
HGVS	NC_000006.11:g.43487520G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000186589.3,