Have questions? Visit https://www.reddit.com/r/SNPedia

rs727503764

From SNPedia

Orientationplus
Geno Mag Summary
(GTGA;GTGA) 0 common in clinvar
Make rs727503764(-;-)
Make rs727503764(-;AGTG)
Make rs727503764(AGTG;AGTG)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position421010
GeneRBCK1
is asnp
is mentioned by
dbSNPrs727503764
ebirs727503764
HLIrs727503764
Exacrs727503764
Varsomers727503764
Maprs727503764
PheGenIrs727503764
hapmaprs727503764
1000 genomesrs727503764
hgdprs727503764
ensemblrs727503764
gopubmedrs727503764
geneviewrs727503764
scholarrs727503764
googlers727503764
pharmgkbrs727503764
gwascentralrs727503764
openSNPrs727503764
23andMers727503764
23andMe allrs727503764
SNP Nexus

SNPshotrs727503764
SNPdbers727503764
MSV3drs727503764
GWAS Ctlgrs727503764
Max Magnitude0
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,