rs796052125

Orientation

plus

Stabilized

plus

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

Make rs796052125(C;C)

Make rs796052125(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

43520119

Gene

POLR1C

is a	snp
is	mentioned by
dbSNP	rs796052125
dbSNP (classic)	rs796052125
ClinGen	rs796052125
ebi	rs796052125
HLI	rs796052125
Exac	rs796052125
Gnomad	rs796052125
Varsome	rs796052125
LitVar	rs796052125
Map	rs796052125
PheGenI	rs796052125
Biobank	rs796052125
1000 genomes	rs796052125
hgdp	rs796052125
ensembl	rs796052125
geneview	rs796052125
scholar	rs796052125
google	rs796052125
pharmgkb	rs796052125
gwascentral	rs796052125
openSNP	rs796052125
23andMe	rs796052125
SNPshot	rs796052125
SNPdbe	rs796052125
MSV3d	rs796052125
GWAS Ctlg	rs796052125

Max Magnitude

0

ClinVar
Risk	rs796052125(C;C)
Alt	rs796052125(C;C)
Reference	Rs796052125(T;T)
Significance	Pathogenic
Disease	Leukodystrophy
Variation	info
Gene	POLR1C
CLNDBN	Leukodystrophy, hypomyelinating, 11
Reversed	0
HGVS	NC_000006.11:g.43487857T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000186586.3,