rs606231306

Orientation

plus

Stabilized

plus

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

Make rs606231306(-;-)

Make rs606231306(-;T)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

43122112

Gene

POMK

is a	snp
is	mentioned by
dbSNP	rs606231306
dbSNP (classic)	rs606231306
ClinGen	rs606231306
ebi	rs606231306
HLI	rs606231306
Exac	rs606231306
Gnomad	rs606231306
Varsome	rs606231306
LitVar	rs606231306
Map	rs606231306
PheGenI	rs606231306
Biobank	rs606231306
1000 genomes	rs606231306
hgdp	rs606231306
ensembl	rs606231306
geneview	rs606231306
scholar	rs606231306
google	rs606231306
pharmgkb	rs606231306
gwascentral	rs606231306
openSNP	rs606231306
23andMe	rs606231306
SNPshot	rs606231306
SNPdbe	rs606231306
MSV3d	rs606231306
GWAS Ctlg	rs606231306

Max Magnitude

0

ClinVar
Risk	rs606231306(-;-)
Alt	rs606231306(-;-)
Reference	Rs606231306(T;T)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	POMK
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Reversed	0
HGVS	NC_000008.10:g.42977255delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000148015.4,