rs104893654

Orientation

minus

Stabilized

minus

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

Make rs104893654(C;C)

Make rs104893654(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

222297031

Gene	CCDC140, PAX3

is a	snp
is	mentioned by
dbSNP	rs104893654
dbSNP (classic)	rs104893654
ClinGen	rs104893654
ebi	rs104893654
HLI	rs104893654
Exac	rs104893654
Gnomad	rs104893654
Varsome	rs104893654
LitVar	rs104893654
Map	rs104893654
PheGenI	rs104893654
Biobank	rs104893654
1000 genomes	rs104893654
hgdp	rs104893654
ensembl	rs104893654
geneview	rs104893654
scholar	rs104893654
google	rs104893654
pharmgkb	rs104893654
gwascentral	rs104893654
openSNP	rs104893654
23andMe	rs104893654
SNPshot	rs104893654
SNPdbe	rs104893654
MSV3d	rs104893654
GWAS Ctlg	rs104893654

Merged from

Rs28939096

Max Magnitude

0

OMIM	606597
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104893654(C;C)
Alt	rs104893654(C;C)
Reference	Rs104893654(T;T)
Significance	Pathogenic
Disease	Klein-Waardenberg's syndrome
Variation	info
Gene	PAX3 CCDC140
CLNDBN	Klein-Waardenberg's syndrome
Reversed	1
HGVS	NC_000002.11:g.223161750A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004437.3,