rs796052124

Orientation

plus

Stabilized

plus

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

Make rs796052124(A;T)

Make rs796052124(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

43517331

Gene	POLR1C, YIPF3

is a	snp
is	mentioned by
dbSNP	rs796052124
dbSNP (classic)	rs796052124
ClinGen	rs796052124
ebi	rs796052124
HLI	rs796052124
Exac	rs796052124
Gnomad	rs796052124
Varsome	rs796052124
LitVar	rs796052124
Map	rs796052124
PheGenI	rs796052124
Biobank	rs796052124
1000 genomes	rs796052124
hgdp	rs796052124
ensembl	rs796052124
geneview	rs796052124
scholar	rs796052124
google	rs796052124
pharmgkb	rs796052124
gwascentral	rs796052124
openSNP	rs796052124
23andMe	rs796052124
SNPshot	rs796052124
SNPdbe	rs796052124
MSV3d	rs796052124
GWAS Ctlg	rs796052124

Max Magnitude

0

ClinVar
Risk	rs796052124(T;T)
Alt	rs796052124(T;T)
Reference	Rs796052124(A;A)
Significance	Pathogenic
Disease	Leukodystrophy
Variation	info
Gene	YIPF3 POLR1C
CLNDBN	Leukodystrophy, hypomyelinating, 11
Reversed	0
HGVS	NC_000006.11:g.43485069A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000186585.3,