rs397515370

Orientation

minus

Stabilized

minus

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

Make rs397515370(A;C)

Make rs397515370(C;C)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37974200

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs397515370
dbSNP (classic)	rs397515370
ClinGen	rs397515370
ebi	rs397515370
HLI	rs397515370
Exac	rs397515370
Gnomad	rs397515370
Varsome	rs397515370
LitVar	rs397515370
Map	rs397515370
PheGenI	rs397515370
Biobank	rs397515370
1000 genomes	rs397515370
hgdp	rs397515370
ensembl	rs397515370
geneview	rs397515370
scholar	rs397515370
google	rs397515370
pharmgkb	rs397515370
gwascentral	rs397515370
openSNP	rs397515370
23andMe	rs397515370
SNPshot	rs397515370
SNPdbe	rs397515370
MSV3d	rs397515370
GWAS Ctlg	rs397515370

Max Magnitude

0

ClinVar
Risk	rs397515370(C;C)
Alt	rs397515370(C;C)
Reference	Rs397515370(A;A)
Significance	Pathogenic
Disease	Waardenburg syndrome type 2E
Variation	info
Gene	SOX10 POLR2F
CLNDBN	Waardenburg syndrome type 2E, with neurologic involvement
Reversed	1
HGVS	NC_000022.10:g.38370207T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007834.4,