rs727503764

Orientation

plus

Stabilized

plus

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

Make rs727503764(-;-)

Make rs727503764(-;AGTG)

Make rs727503764(AGTG;AGTG)

Reference

GRCh38.p2 38.2/144

Chromosome

20

Position

421010

Gene

RBCK1

is a	snp
is	mentioned by
dbSNP	rs727503764
dbSNP (classic)	rs727503764
ClinGen	rs727503764
ebi	rs727503764
HLI	rs727503764
Exac	rs727503764
Gnomad	rs727503764
Varsome	rs727503764
LitVar	rs727503764
Map	rs727503764
PheGenI	rs727503764
Biobank	rs727503764
1000 genomes	rs727503764
hgdp	rs727503764
ensembl	rs727503764
geneview	rs727503764
scholar	rs727503764
google	rs727503764
pharmgkb	rs727503764
gwascentral	rs727503764
openSNP	rs727503764
23andMe	rs727503764
SNPshot	rs727503764
SNPdbe	rs727503764
MSV3d	rs727503764
GWAS Ctlg	rs727503764

Max Magnitude

0

ClinVar
Risk	rs727503764(-;-)
Alt	rs727503764(-;-)
Reference	Rs727503764(GTGA;GTGA)
Significance	Pathogenic
Disease	Polyglucosan body myopathy 1 with or without immunodeficiency
Variation	info
Gene	RBCK1
CLNDBN	Polyglucosan body myopathy 1 with or without immunodeficiency
Reversed	0
HGVS	NC_000020.10:g.401654_401657delAGTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000128836.4,