rs397515369

Orientation

minus

Stabilized

minus

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

Make rs397515369(-;-)

Make rs397515369(-;C)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37978058

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs397515369
dbSNP (classic)	rs397515369
ClinGen	rs397515369
ebi	rs397515369
HLI	rs397515369
Exac	rs397515369
Gnomad	rs397515369
Varsome	rs397515369
LitVar	rs397515369
Map	rs397515369
PheGenI	rs397515369
Biobank	rs397515369
1000 genomes	rs397515369
hgdp	rs397515369
ensembl	rs397515369
geneview	rs397515369
scholar	rs397515369
google	rs397515369
pharmgkb	rs397515369
gwascentral	rs397515369
openSNP	rs397515369
23andMe	rs397515369
SNPshot	rs397515369
SNPdbe	rs397515369
MSV3d	rs397515369
GWAS Ctlg	rs397515369

Max Magnitude

0

ClinVar
Risk	rs397515369(-;-)
Alt	rs397515369(-;-)
Reference	Rs397515369(C;C)
Significance	Pathogenic
Disease	Waardenburg syndrome type 2E
Variation	info
Gene	SOX10 POLR2F
CLNDBN	Waardenburg syndrome type 2E, without neurologic involvement
Reversed	1
HGVS	NC_000022.10:g.38374065delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007832.4,