rs796052126

Orientation

plus

Stabilized

plus

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

Make rs796052126(C;T)

Make rs796052126(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

43517313

Gene	POLR1C, YIPF3

is a	snp
is	mentioned by
dbSNP	rs796052126
dbSNP (classic)	rs796052126
ClinGen	rs796052126
ebi	rs796052126
HLI	rs796052126
Exac	rs796052126
Gnomad	rs796052126
Varsome	rs796052126
LitVar	rs796052126
Map	rs796052126
PheGenI	rs796052126
Biobank	rs796052126
1000 genomes	rs796052126
hgdp	rs796052126
ensembl	rs796052126
geneview	rs796052126
scholar	rs796052126
google	rs796052126
pharmgkb	rs796052126
gwascentral	rs796052126
openSNP	rs796052126
23andMe	rs796052126
SNPshot	rs796052126
SNPdbe	rs796052126
MSV3d	rs796052126
GWAS Ctlg	rs796052126

Max Magnitude

0

ClinVar
Risk	rs796052126(T;T)
Alt	rs796052126(T;T)
Reference	Rs796052126(C;C)
Significance	Pathogenic
Disease	Leukodystrophy
Variation	info
Gene	YIPF3 POLR1C
CLNDBN	Leukodystrophy, hypomyelinating, 11
Reversed	0
HGVS	NC_000006.11:g.43485051C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000186588.3,