rs1057519456

Orientation

plus

Stabilized

plus

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

Make rs1057519456(-;-)

Make rs1057519456(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

43520386

Gene

POLR1C

is a	snp
is	mentioned by
dbSNP	rs1057519456
dbSNP (classic)	rs1057519456
ClinGen	rs1057519456
ebi	rs1057519456
HLI	rs1057519456
Exac	rs1057519456
Gnomad	rs1057519456
Varsome	rs1057519456
LitVar	rs1057519456
Map	rs1057519456
PheGenI	rs1057519456
Biobank	rs1057519456
1000 genomes	rs1057519456
hgdp	rs1057519456
ensembl	rs1057519456
geneview	rs1057519456
scholar	rs1057519456
google	rs1057519456
pharmgkb	rs1057519456
gwascentral	rs1057519456
openSNP	rs1057519456
23andMe	rs1057519456
SNPshot	rs1057519456
SNPdbe	rs1057519456
MSV3d	rs1057519456
GWAS Ctlg	rs1057519456

Max Magnitude

0

ClinVar
Risk	rs1057519456(-;-)
Alt	rs1057519456(-;-)
Reference	Rs1057519456(G;G)
Significance	Pathogenic
Disease	Leukodystrophy
Variation	info
Gene	POLR1C
CLNDBN	Leukodystrophy, hypomyelinating, 11
Reversed	0
HGVS	NC_000006.11:g.43488124delG
CLNSRC
CLNACC	RCV000416417.1,