rs483353057

Orientation

minus

Stabilized

minus

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

Make rs483353057(-;-)

Make rs483353057(-;CCCGT)

Reference

GRCh38 38.1/142

Chromosome

22

Position

37983510

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs483353057
dbSNP (classic)	rs483353057
ClinGen	rs483353057
ebi	rs483353057
HLI	rs483353057
Exac	rs483353057
Gnomad	rs483353057
Varsome	rs483353057
LitVar	rs483353057
Map	rs483353057
PheGenI	rs483353057
Biobank	rs483353057
1000 genomes	rs483353057
hgdp	rs483353057
ensembl	rs483353057
geneview	rs483353057
scholar	rs483353057
google	rs483353057
pharmgkb	rs483353057
gwascentral	rs483353057
openSNP	rs483353057
23andMe	rs483353057
SNPshot	rs483353057
SNPdbe	rs483353057
MSV3d	rs483353057
GWAS Ctlg	rs483353057

Max Magnitude

0

ClinVar
Risk	rs483353057(-;-)
Alt	rs483353057(-;-)
Reference	Rs483353057(CCCGT;CCCGT)
Significance	Probable-Pathogenic
Disease	Waardenburg syndrome type 4C
Variation	info
Gene	SOX10 POLR2F
CLNDBN	Waardenburg syndrome type 4C
Reversed	1
HGVS	NC_000022.10:g.38379517_38379521delACGGG
CLNSRC	ClinVar
CLNACC	RCV000119814.1,