rs397515387

Orientation

minus

Stabilized

minus

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

Make rs397515387(-;-)

Make rs397515387(-;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37983672

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs397515387
dbSNP (classic)	rs397515387
ClinGen	rs397515387
ebi	rs397515387
HLI	rs397515387
Exac	rs397515387
Gnomad	rs397515387
Varsome	rs397515387
LitVar	rs397515387
Map	rs397515387
PheGenI	rs397515387
Biobank	rs397515387
1000 genomes	rs397515387
hgdp	rs397515387
ensembl	rs397515387
geneview	rs397515387
scholar	rs397515387
google	rs397515387
pharmgkb	rs397515387
gwascentral	rs397515387
openSNP	rs397515387
23andMe	rs397515387
SNPshot	rs397515387
SNPdbe	rs397515387
MSV3d	rs397515387
GWAS Ctlg	rs397515387

Max Magnitude

0

ClinVar
Risk	rs397515387(-;-)
Alt	rs397515387(-;-)
Reference	Rs397515387(G;G)
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.38379679delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023179.6,