rs397515386

Orientation

minus

Stabilized

minus

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

Make rs397515386(-;-)

Make rs397515386(-;AG)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37974152

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs397515386
dbSNP (classic)	rs397515386
ClinGen	rs397515386
ebi	rs397515386
HLI	rs397515386
Exac	rs397515386
Gnomad	rs397515386
Varsome	rs397515386
LitVar	rs397515386
Map	rs397515386
PheGenI	rs397515386
Biobank	rs397515386
1000 genomes	rs397515386
hgdp	rs397515386
ensembl	rs397515386
geneview	rs397515386
scholar	rs397515386
google	rs397515386
pharmgkb	rs397515386
gwascentral	rs397515386
openSNP	rs397515386
23andMe	rs397515386
SNPshot	rs397515386
SNPdbe	rs397515386
MSV3d	rs397515386
GWAS Ctlg	rs397515386

Max Magnitude

0

ClinVar
Risk	rs397515386(-;-)
Alt	rs397515386(-;-)
Reference	Rs397515386(AG;AG)
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.38370159_38370160delCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023178.5,