rs387906947

Orientation

minus

Stabilized

minus

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

Make rs387906947(C;G)

Make rs387906947(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

222297061

Gene	CCDC140, PAX3

is a	snp
is	mentioned by
dbSNP	rs387906947
dbSNP (classic)	rs387906947
ClinGen	rs387906947
ebi	rs387906947
HLI	rs387906947
Exac	rs387906947
Gnomad	rs387906947
Varsome	rs387906947
LitVar	rs387906947
Map	rs387906947
PheGenI	rs387906947
Biobank	rs387906947
1000 genomes	rs387906947
hgdp	rs387906947
ensembl	rs387906947
geneview	rs387906947
scholar	rs387906947
google	rs387906947
pharmgkb	rs387906947
gwascentral	rs387906947
openSNP	rs387906947
23andMe	rs387906947
SNPshot	rs387906947
SNPdbe	rs387906947
MSV3d	rs387906947
GWAS Ctlg	rs387906947

Max Magnitude

0

ClinVar
Risk	rs387906947(G;G)
Alt	rs387906947(G;G)
Reference	Rs387906947(C;C)
Significance	Pathogenic
Disease	Waardenburg syndrome type 1
Variation	info
Gene	PAX3 CCDC140
CLNDBN	Waardenburg syndrome type 1
Reversed	1
HGVS	NC_000002.11:g.223161780G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023560.3,