rs104893651

Orientation

minus

Stabilized

minus

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

Make rs104893651(C;T)

Make rs104893651(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

222297048

Gene	CCDC140, PAX3

is a	snp
is	mentioned by
dbSNP	rs104893651
dbSNP (classic)	rs104893651
ClinGen	rs104893651
ebi	rs104893651
HLI	rs104893651
Exac	rs104893651
Gnomad	rs104893651
Varsome	rs104893651
LitVar	rs104893651
Map	rs104893651
PheGenI	rs104893651
Biobank	rs104893651
1000 genomes	rs104893651
hgdp	rs104893651
ensembl	rs104893651
geneview	rs104893651
scholar	rs104893651
google	rs104893651
pharmgkb	rs104893651
gwascentral	rs104893651
openSNP	rs104893651
23andMe	rs104893651
SNPshot	rs104893651
SNPdbe	rs104893651
MSV3d	rs104893651
GWAS Ctlg	rs104893651

Max Magnitude

0

OMIM	606597
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104893651(T;T)
Alt	rs104893651(T;T)
Reference	Rs104893651(C;C)
Significance	Pathogenic
Disease	Klein-Waardenberg's syndrome Waardenburg syndrome type 1
Variation	info
Gene	PAX3 CCDC140
CLNDBN	Klein-Waardenberg's syndrome Waardenburg syndrome type 1
Reversed	1
HGVS	NC_000002.11:g.223161767G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004432.2, RCV000004433.3,