rs397515366

Orientation

minus

Stabilized

minus

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

Make rs397515366(-;GCTCCT)

Make rs397515366(GCTCCT;GCTCCT)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37978081

Gene	POLR2F, SOX10

is a	snp
is	mentioned by
dbSNP	rs397515366
dbSNP (classic)	rs397515366
ClinGen	rs397515366
ebi	rs397515366
HLI	rs397515366
Exac	rs397515366
Gnomad	rs397515366
Varsome	rs397515366
LitVar	rs397515366
Map	rs397515366
PheGenI	rs397515366
Biobank	rs397515366
1000 genomes	rs397515366
hgdp	rs397515366
ensembl	rs397515366
geneview	rs397515366
scholar	rs397515366
google	rs397515366
pharmgkb	rs397515366
gwascentral	rs397515366
openSNP	rs397515366
23andMe	rs397515366
SNPshot	rs397515366
SNPdbe	rs397515366
MSV3d	rs397515366
GWAS Ctlg	rs397515366

Max Magnitude

0

ClinVar
Risk	rs397515366(GCTCCT;GCTCCT)
Alt	rs397515366(GCTCCT;GCTCCT)
Reference	Rs397515366(-;-)
Significance	Pathogenic
Disease	Waardenburg syndrome type 4C
Variation	info
Gene	SOX10 POLR2F
CLNDBN	Waardenburg syndrome type 4C
Reversed	1
HGVS	NC_000022.10:g.38374088_38374089insAGGAGC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007819.3,