rs267606931

Orientation

minus

Stabilized

minus

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

Make rs267606931(G;T)

Make rs267606931(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

222297132

Gene	CCDC140, PAX3

is a	snp
is	mentioned by
dbSNP	rs267606931
dbSNP (classic)	rs267606931
ClinGen	rs267606931
ebi	rs267606931
HLI	rs267606931
Exac	rs267606931
Gnomad	rs267606931
Varsome	rs267606931
LitVar	rs267606931
Map	rs267606931
PheGenI	rs267606931
Biobank	rs267606931
1000 genomes	rs267606931
hgdp	rs267606931
ensembl	rs267606931
geneview	rs267606931
scholar	rs267606931
google	rs267606931
pharmgkb	rs267606931
gwascentral	rs267606931
openSNP	rs267606931
23andMe	rs267606931
SNPshot	rs267606931
SNPdbe	rs267606931
MSV3d	rs267606931
GWAS Ctlg	rs267606931

Max Magnitude

0

ClinVar
Risk	rs267606931(T;T)
Alt	rs267606931(T;T)
Reference	Rs267606931(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.223161851C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004438.3,