rs397515457

Orientation

minus

Stabilized

minus

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

Make rs397515457(G;G)

Make rs397515457(G;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37983783

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs397515457
dbSNP (classic)	rs397515457
ClinGen	rs397515457
ebi	rs397515457
HLI	rs397515457
Exac	rs397515457
Gnomad	rs397515457
Varsome	rs397515457
LitVar	rs397515457
Map	rs397515457
PheGenI	rs397515457
Biobank	rs397515457
1000 genomes	rs397515457
hgdp	rs397515457
ensembl	rs397515457
geneview	rs397515457
scholar	rs397515457
google	rs397515457
pharmgkb	rs397515457
gwascentral	rs397515457
openSNP	rs397515457
23andMe	rs397515457
SNPshot	rs397515457
SNPdbe	rs397515457
MSV3d	rs397515457
GWAS Ctlg	rs397515457

Max Magnitude

0

ClinVar
Risk	rs397515457(G;G)
Alt	rs397515457(G;G)
Reference	Rs397515457(T;T)
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.38379790A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000055673.2,