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rs387907335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGT;AAGT) 0 common in clinvar
(AGTA;AGTA) 0 common in clinvar
Make rs387907335(-;-)
Make rs387907335(-;AGTA)
ReferenceGRCh38 38.1/141
Chromosome2
Position208335330
GenePIKFYVE
is asnp
is mentioned by
dbSNPrs387907335
ebirs387907335
HLIrs387907335
Exacrs387907335
Varsomers387907335
Maprs387907335
PheGenIrs387907335
hapmaprs387907335
1000 genomesrs387907335
hgdprs387907335
ensemblrs387907335
gopubmedrs387907335
geneviewrs387907335
scholarrs387907335
googlers387907335
pharmgkbrs387907335
gwascentralrs387907335
openSNPrs387907335
23andMers387907335
23andMe allrs387907335
SNP Nexus

SNPshotrs387907335
SNPdbers387907335
MSV3drs387907335
GWAS Ctlgrs387907335
Max Magnitude0
ClinVar
Risk rs387907335(;)
Alt rs387907335(;)
Reference rs387907335(AAGT;AAGT)
Significance Pathogenic
Disease Fleck corneal dystrophy
Variation info
Gene PIKFYVE
CLNDBN Fleck corneal dystrophy
Reversed 0
HGVS NC_000002.11:g.209200054_209200057delAGTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000034837.4,