rs876657717

Orientation

minus

Stabilized

minus

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

Make rs876657717(A;A)

Make rs876657717(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

222232202

Gene	LOC105373901, PAX3

is a	snp
is	mentioned by
dbSNP	rs876657717
dbSNP (classic)	rs876657717
ClinGen	rs876657717
ebi	rs876657717
HLI	rs876657717
Exac	rs876657717
Gnomad	rs876657717
Varsome	rs876657717
LitVar	rs876657717
Map	rs876657717
PheGenI	rs876657717
Biobank	rs876657717
1000 genomes	rs876657717
hgdp	rs876657717
ensembl	rs876657717
geneview	rs876657717
scholar	rs876657717
google	rs876657717
pharmgkb	rs876657717
gwascentral	rs876657717
openSNP	rs876657717
23andMe	rs876657717
SNPshot	rs876657717
SNPdbe	rs876657717
MSV3d	rs876657717
GWAS Ctlg	rs876657717

Max Magnitude

0

ClinVar
Risk	rs876657717(A;A)
Alt	rs876657717(A;A)
Reference	Rs876657717(G;G)
Significance	Pathogenic
Disease	Waardenburg syndrome
Variation	info
Gene	PAX3
CLNDBN	Waardenburg syndrome
Reversed	1
HGVS	NC_000002.11:g.223096921C>T
CLNSRC
CLNACC	RCV000216335.1,