rs104893653

Orientation

minus

Stabilized

minus

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

Make rs104893653(A;C)

Make rs104893653(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

222297160

Gene	CCDC140, PAX3

is a	snp
is	mentioned by
dbSNP	rs104893653
dbSNP (classic)	rs104893653
ClinGen	rs104893653
ebi	rs104893653
HLI	rs104893653
Exac	rs104893653
Gnomad	rs104893653
Varsome	rs104893653
LitVar	rs104893653
Map	rs104893653
PheGenI	rs104893653
Biobank	rs104893653
1000 genomes	rs104893653
hgdp	rs104893653
ensembl	rs104893653
geneview	rs104893653
scholar	rs104893653
google	rs104893653
pharmgkb	rs104893653
gwascentral	rs104893653
openSNP	rs104893653
23andMe	rs104893653
SNPshot	rs104893653
SNPdbe	rs104893653
MSV3d	rs104893653
GWAS Ctlg	rs104893653

Max Magnitude

0

OMIM	606597
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104893653(C;C)
Alt	rs104893653(C;C)
Reference	Rs104893653(A;A)
Significance	Pathogenic
Disease	Klein-Waardenberg's syndrome
Variation	info
Gene	PAX3 CCDC140
CLNDBN	Klein-Waardenberg's syndrome
Reversed	1
HGVS	NC_000002.11:g.223161879T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004435.2,