rs1057519455

Orientation

plus

Stabilized

plus

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

Make rs1057519455(C;T)

Make rs1057519455(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

43517324

Gene	POLR1C, YIPF3

is a	snp
is	mentioned by
dbSNP	rs1057519455
dbSNP (classic)	rs1057519455
ClinGen	rs1057519455
ebi	rs1057519455
HLI	rs1057519455
Exac	rs1057519455
Gnomad	rs1057519455
Varsome	rs1057519455
LitVar	rs1057519455
Map	rs1057519455
PheGenI	rs1057519455
Biobank	rs1057519455
1000 genomes	rs1057519455
hgdp	rs1057519455
ensembl	rs1057519455
geneview	rs1057519455
scholar	rs1057519455
google	rs1057519455
pharmgkb	rs1057519455
gwascentral	rs1057519455
openSNP	rs1057519455
23andMe	rs1057519455
SNPshot	rs1057519455
SNPdbe	rs1057519455
MSV3d	rs1057519455
GWAS Ctlg	rs1057519455

Max Magnitude

0

ClinVar
Risk	rs1057519455(T;T)
Alt	rs1057519455(T;T)
Reference	Rs1057519455(C;C)
Significance	Pathogenic
Disease	Leukodystrophy
Variation	info
Gene	YIPF3 POLR1C
CLNDBN	Leukodystrophy, hypomyelinating, 11
Reversed	0
HGVS	NC_000006.11:g.43485062C>T
CLNSRC
CLNACC	RCV000416459.1,