rs104894269

Orientation

minus

Stabilized

minus

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

Make rs104894269(C;T)

Make rs104894269(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

72243790

Gene

PHOX2A

is a	snp
is	mentioned by
dbSNP	rs104894269
dbSNP (classic)	rs104894269
ClinGen	rs104894269
ebi	rs104894269
HLI	rs104894269
Exac	rs104894269
Gnomad	rs104894269
Varsome	rs104894269
LitVar	rs104894269
Map	rs104894269
PheGenI	rs104894269
Biobank	rs104894269
1000 genomes	rs104894269
hgdp	rs104894269
ensembl	rs104894269
geneview	rs104894269
scholar	rs104894269
google	rs104894269
pharmgkb	rs104894269
gwascentral	rs104894269
openSNP	rs104894269
23andMe	rs104894269
SNPshot	rs104894269
SNPdbe	rs104894269
MSV3d	rs104894269
GWAS Ctlg	rs104894269

Max Magnitude

0

OMIM	602753
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894269(T;T)
Alt	rs104894269(T;T)
Reference	Rs104894269(C;C)
Significance	Pathogenic
Disease	Fibrosis of extraocular muscles
Variation	info
Gene	PHOX2A
CLNDBN	Fibrosis of extraocular muscles, congenital, 2
Reversed	1
HGVS	NC_000011.9:g.71954834G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007242.3,