rs587776586

Orientation

plus

Stabilized

minus

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

Make rs587776586(C;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

222297057

Gene	CCDC140, PAX3

is a	snp
is	mentioned by
dbSNP	rs587776586
dbSNP (classic)	rs587776586
ClinGen	rs587776586
ebi	rs587776586
HLI	rs587776586
Exac	rs587776586
Gnomad	rs587776586
Varsome	rs587776586
LitVar	rs587776586
Map	rs587776586
PheGenI	rs587776586
Biobank	rs587776586
1000 genomes	rs587776586
hgdp	rs587776586
ensembl	rs587776586
geneview	rs587776586
scholar	rs587776586
google	rs587776586
pharmgkb	rs587776586
gwascentral	rs587776586
openSNP	rs587776586
23andMe	rs587776586
SNPshot	rs587776586
SNPdbe	rs587776586
MSV3d	rs587776586
GWAS Ctlg	rs587776586

Max Magnitude

0

ClinVar
Risk	Rs587776586(C;C)
Alt	Rs587776586(C;C)
Reference	Rs587776586(G;G)
Significance	Pathogenic
Disease	Waardenburg syndrome type 1
Variation	info
Gene	PAX3 CCDC140
CLNDBN	Waardenburg syndrome type 1
Reversed	1
HGVS	NC_000002.11:g.223161776C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004430.3,