rs104894466

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	5	Oculopharyngeal muscular dystrophy (OPMD)
(G;G)	0	common in clinvar

Make rs104894466(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23321504

Gene	BCL2L2-PABPN1, PABPN1

is a	snp
is	mentioned by
dbSNP	rs104894466
dbSNP (classic)	rs104894466
ClinGen	rs104894466
ebi	rs104894466
HLI	rs104894466
Exac	rs104894466
Gnomad	rs104894466
Varsome	rs104894466
LitVar	rs104894466
Map	rs104894466
PheGenI	rs104894466
Biobank	rs104894466
1000 genomes	rs104894466
hgdp	rs104894466
ensembl	rs104894466
geneview	rs104894466
scholar	rs104894466
google	rs104894466
pharmgkb	rs104894466
gwascentral	rs104894466
openSNP	rs104894466
23andMe	rs104894466
SNPshot	rs104894466
SNPdbe	rs104894466
MSV3d	rs104894466
GWAS Ctlg	rs104894466

Max Magnitude

5

OMIM	602279
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894466(C;C)
Alt	rs104894466(C;C)
Reference	Rs104894466(G;G)
Significance	Pathogenic
Disease	Oculopharyngeal muscular dystrophy
Variation	info
Gene	PABPN1 BCL2L2 BCL2L2-PABPN1
CLNDBN	Oculopharyngeal muscular dystrophy
Reversed	0
HGVS	NC_000014.8:g.23790713G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007793.2,