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rs727505300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs727505300(-;-)
Make rs727505300(-;TG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position108898003
GeneGPSM2
is asnp
is mentioned by
dbSNPrs727505300
dbSNP (classic)rs727505300
ClinGenrs727505300
ebirs727505300
HLIrs727505300
Exacrs727505300
Gnomadrs727505300
Varsomers727505300
LitVarrs727505300
Maprs727505300
PheGenIrs727505300
Biobankrs727505300
1000 genomesrs727505300
hgdprs727505300
ensemblrs727505300
geneviewrs727505300
scholarrs727505300
googlers727505300
pharmgkbrs727505300
gwascentralrs727505300
openSNPrs727505300
23andMers727505300
SNPshotrs727505300
SNPdbers727505300
MSV3drs727505300
GWAS Ctlgrs727505300
Max Magnitude0
ClinVar
Risk rs727505300(-;-)
Alt rs727505300(-;-)
Reference Rs727505300(TG;TG)
Significance Pathogenic
Disease Chudley-McCullough syndrome
Variation info
Gene GPSM2
CLNDBN Chudley-McCullough syndrome
Reversed 0
HGVS NC_000001.10:g.109440625_109440626delTG
CLNSRC
CLNACC RCV000156837.1,