rs2855268

Orientation

minus

Stabilized

minus

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

Make rs2855268(C;C)

Make rs2855268(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

222202200

Gene

PAX3

is a	snp
is	mentioned by
dbSNP	rs2855268
dbSNP (classic)	rs2855268
ClinGen	rs2855268
ebi	rs2855268
HLI	rs2855268
Exac	rs2855268
Gnomad	rs2855268
Varsome	rs2855268
LitVar	rs2855268
Map	rs2855268
PheGenI	rs2855268
Biobank	rs2855268
1000 genomes	rs2855268
hgdp	rs2855268
ensembl	rs2855268
geneview	rs2855268
scholar	rs2855268
google	rs2855268
pharmgkb	rs2855268
gwascentral	rs2855268
openSNP	rs2855268
23andMe	rs2855268
SNPshot	rs2855268
SNPdbe	rs2855268
MSV3d	rs2855268
GWAS Ctlg	rs2855268

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

[PMID 23751107] Evaluation of PAX3 genetic variants and nevus number

ClinVar
Risk	rs2855268(A;A) rs2855268(C;C)
Alt	rs2855268(A;A) rs2855268(C;C)
Reference	Rs2855268(G;G)
Significance	Probable-non-pathogenic
Disease	not specified Craniofacial deafness hand syndrome Waardenburg syndrome
Variation	info
Gene	PAX3
CLNDBN	not specified Craniofacial deafness hand syndrome Waardenburg syndrome
Reversed	1
HGVS	NC_000002.11:g.223066919C>G
CLNSRC
CLNACC	RCV000217343.2, RCV000268598.1, RCV000323688.1,