rs876661317

Orientation

minus

Stabilized

minus

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

Make rs876661317(A;T)

Make rs876661317(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

222295564

Gene

PAX3

is a	snp
is	mentioned by
dbSNP	rs876661317
dbSNP (classic)	rs876661317
ClinGen	rs876661317
ebi	rs876661317
HLI	rs876661317
Exac	rs876661317
Gnomad	rs876661317
Varsome	rs876661317
LitVar	rs876661317
Map	rs876661317
PheGenI	rs876661317
Biobank	rs876661317
1000 genomes	rs876661317
hgdp	rs876661317
ensembl	rs876661317
geneview	rs876661317
scholar	rs876661317
google	rs876661317
pharmgkb	rs876661317
gwascentral	rs876661317
openSNP	rs876661317
23andMe	rs876661317
SNPshot	rs876661317
SNPdbe	rs876661317
MSV3d	rs876661317
GWAS Ctlg	rs876661317

Max Magnitude

0

ClinVar
Risk	rs876661317(T;T)
Alt	rs876661317(T;T)
Reference	Rs876661317(A;A)
Significance	Pathogenic
Disease	Waardenburg syndrome type 1
Variation	info
Gene	PAX3
CLNDBN	Waardenburg syndrome type 1
Reversed	1
HGVS	NC_000002.11:g.223160283T>A
CLNSRC
CLNACC	RCV000223708.1,