rs483353058

Orientation

minus

Stabilized

minus

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

Make rs483353058(C;G)

Make rs483353058(G;G)

Reference

GRCh38 38.1/142

Chromosome

22

Position

37973769

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs483353058
dbSNP (classic)	rs483353058
ClinGen	rs483353058
ebi	rs483353058
HLI	rs483353058
Exac	rs483353058
Gnomad	rs483353058
Varsome	rs483353058
LitVar	rs483353058
Map	rs483353058
PheGenI	rs483353058
Biobank	rs483353058
1000 genomes	rs483353058
hgdp	rs483353058
ensembl	rs483353058
geneview	rs483353058
scholar	rs483353058
google	rs483353058
pharmgkb	rs483353058
gwascentral	rs483353058
openSNP	rs483353058
23andMe	rs483353058
SNPshot	rs483353058
SNPdbe	rs483353058
MSV3d	rs483353058
GWAS Ctlg	rs483353058

Max Magnitude

0

ClinVar
Risk	rs483353058(G;G)
Alt	rs483353058(G;G)
Reference	Rs483353058(C;C)
Significance	Probable-Pathogenic
Disease	Peripheral demyelinating neuropathy
Variation	info
Gene	SOX10 POLR2F
CLNDBN	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Reversed	1
HGVS	NC_000022.10:g.38369776G>C
CLNSRC	ClinVar
CLNACC	RCV000119813.1,