rs397515372

Orientation

minus

Stabilized

minus

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

Make rs397515372(-;-)

Make rs397515372(-;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37973981

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs397515372
dbSNP (classic)	rs397515372
ClinGen	rs397515372
ebi	rs397515372
HLI	rs397515372
Exac	rs397515372
Gnomad	rs397515372
Varsome	rs397515372
LitVar	rs397515372
Map	rs397515372
PheGenI	rs397515372
Biobank	rs397515372
1000 genomes	rs397515372
hgdp	rs397515372
ensembl	rs397515372
geneview	rs397515372
scholar	rs397515372
google	rs397515372
pharmgkb	rs397515372
gwascentral	rs397515372
openSNP	rs397515372
23andMe	rs397515372
SNPshot	rs397515372
SNPdbe	rs397515372
MSV3d	rs397515372
GWAS Ctlg	rs397515372

Max Magnitude

0

ClinVar
Risk	rs397515372(-;-)
Alt	rs397515372(-;-)
Reference	Rs397515372(G;G)
Significance	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.38369988delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007837.4,