rs104893652

Orientation

minus

Stabilized

minus

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

Make rs104893652(C;G)

Make rs104893652(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

222297158

Gene	CCDC140, PAX3

is a	snp
is	mentioned by
dbSNP	rs104893652
dbSNP (classic)	rs104893652
ClinGen	rs104893652
ebi	rs104893652
HLI	rs104893652
Exac	rs104893652
Gnomad	rs104893652
Varsome	rs104893652
LitVar	rs104893652
Map	rs104893652
PheGenI	rs104893652
Biobank	rs104893652
1000 genomes	rs104893652
hgdp	rs104893652
ensembl	rs104893652
geneview	rs104893652
scholar	rs104893652
google	rs104893652
pharmgkb	rs104893652
gwascentral	rs104893652
openSNP	rs104893652
23andMe	rs104893652
SNPshot	rs104893652
SNPdbe	rs104893652
MSV3d	rs104893652
GWAS Ctlg	rs104893652

Max Magnitude

0

OMIM	606597
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104893652(G;G)
Alt	rs104893652(G;G)
Reference	Rs104893652(C;C)
Significance	Pathogenic
Disease	Craniofacial deafness hand syndrome
Variation	info
Gene	PAX3 CCDC140
CLNDBN	Craniofacial deafness hand syndrome
Reversed	1
HGVS	NC_000002.11:g.223161877G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004434.2,