rs267606966

Orientation

minus

Stabilized

minus

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

Make rs267606966(A;A)

Make rs267606966(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

77301169

Gene

POMT2

is a	snp
is	mentioned by
dbSNP	rs267606966
dbSNP (classic)	rs267606966
ClinGen	rs267606966
ebi	rs267606966
HLI	rs267606966
Exac	rs267606966
Gnomad	rs267606966
Varsome	rs267606966
LitVar	rs267606966
Map	rs267606966
PheGenI	rs267606966
Biobank	rs267606966
1000 genomes	rs267606966
hgdp	rs267606966
ensembl	rs267606966
geneview	rs267606966
scholar	rs267606966
google	rs267606966
pharmgkb	rs267606966
gwascentral	rs267606966
openSNP	rs267606966
23andMe	rs267606966
SNPshot	rs267606966
SNPdbe	rs267606966
MSV3d	rs267606966
GWAS Ctlg	rs267606966

Max Magnitude

0

ClinVar
Risk	rs267606966(A;A)
Alt	rs267606966(A;A)
Reference	Rs267606966(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with mental retardation
Variation	info
Gene	POMT2
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
Reversed	1
HGVS	NC_000014.8:g.77767512C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003384.4,