rs886041261

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;GGCGGC)	5	Oculopharyngeal muscular dystrophy (OPMD)
(-;GGCGGCGGC)	5	Oculopharyngeal muscular dystrophy (OPMD)
(T;T)	0	common in clinvar

Chromosome

14

Position

23321492

Gene	BCL2L2-PABPN1, PABPN1

is a	snp
is	mentioned by
dbSNP	rs886041261
dbSNP (classic)	rs886041261
ClinGen	rs886041261
ebi	rs886041261
HLI	rs886041261
Exac	rs886041261
Gnomad	rs886041261
Varsome	rs886041261
LitVar	rs886041261
Map	rs886041261
PheGenI	rs886041261
Biobank	rs886041261
1000 genomes	rs886041261
hgdp	rs886041261
ensembl	rs886041261
geneview	rs886041261
scholar	rs886041261
google	rs886041261
pharmgkb	rs886041261
gwascentral	rs886041261
openSNP	rs886041261
23andMe	rs886041261
SNPshot	rs886041261
SNPdbe	rs886041261
MSV3d	rs886041261
GWAS Ctlg	rs886041261

Max Magnitude

5

ClinVar
Risk	rs886041261(GGCGGC;GGCGGC) rs886041261(GGCGGCGGC;GGCGGCGGC)
Alt	rs886041261(GGCGGC;GGCGGC) rs886041261(GGCGGCGGC;GGCGGCGGC)
Reference	Rs886041261(-;-)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	PABPN1 BCL2L2-PABPN1
CLNDBN	not provided
Reversed	0
HGVS	NC_000014.8:g.23790693_23790701dupGGCGGCGGC; NC_000014.8:g.23790696_23790701dupGGCGGC
CLNSRC
CLNACC	RCV000360117.1, RCV000288768.1,