rs397515367

Orientation

minus

Stabilized

minus

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

Make rs397515367(-;-)

Make rs397515367(-;GA)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37973818

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs397515367
dbSNP (classic)	rs397515367
ClinGen	rs397515367
ebi	rs397515367
HLI	rs397515367
Exac	rs397515367
Gnomad	rs397515367
Varsome	rs397515367
LitVar	rs397515367
Map	rs397515367
PheGenI	rs397515367
Biobank	rs397515367
1000 genomes	rs397515367
hgdp	rs397515367
ensembl	rs397515367
geneview	rs397515367
scholar	rs397515367
google	rs397515367
pharmgkb	rs397515367
gwascentral	rs397515367
openSNP	rs397515367
23andMe	rs397515367
SNPshot	rs397515367
SNPdbe	rs397515367
MSV3d	rs397515367
GWAS Ctlg	rs397515367

Max Magnitude

0

ClinVar
Risk	rs397515367(-;-)
Alt	rs397515367(-;-)
Reference	Rs397515367(GA;GA)
Significance	Pathogenic
Disease	Waardenburg syndrome type 4C
Variation	info
Gene	SOX10 POLR2F
CLNDBN	Waardenburg syndrome type 4C
Reversed	1
HGVS	NC_000022.10:g.38369825_38369826delTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007820.3,