rs104893650

Orientation

minus

Stabilized

minus

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

Make rs104893650(C;T)

Make rs104893650(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

222297150

Gene	CCDC140, PAX3

is a	snp
is	mentioned by
dbSNP	rs104893650
dbSNP (classic)	rs104893650
ClinGen	rs104893650
ebi	rs104893650
HLI	rs104893650
Exac	rs104893650
Gnomad	rs104893650
Varsome	rs104893650
LitVar	rs104893650
Map	rs104893650
PheGenI	rs104893650
Biobank	rs104893650
1000 genomes	rs104893650
hgdp	rs104893650
ensembl	rs104893650
geneview	rs104893650
scholar	rs104893650
google	rs104893650
pharmgkb	rs104893650
gwascentral	rs104893650
openSNP	rs104893650
23andMe	rs104893650
SNPshot	rs104893650
SNPdbe	rs104893650
MSV3d	rs104893650
GWAS Ctlg	rs104893650

Max Magnitude

0

OMIM	606597
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104893650(T;T)
Alt	rs104893650(T;T)
Reference	Rs104893650(C;C)
Significance	Pathogenic
Disease	Waardenburg syndrome type 1
Variation	info
Gene	PAX3 CCDC140
CLNDBN	Waardenburg syndrome type 1
Reversed	1
HGVS	NC_000002.11:g.223161869G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004426.2,