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rs121918337

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918337(C;T)
Make rs121918337(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position208325773
GenePIKFYVE
is asnp
is mentioned by
dbSNPrs121918337
ebirs121918337
HLIrs121918337
Exacrs121918337
Varsomers121918337
Maprs121918337
PheGenIrs121918337
hapmaprs121918337
1000 genomesrs121918337
hgdprs121918337
ensemblrs121918337
gopubmedrs121918337
geneviewrs121918337
scholarrs121918337
googlers121918337
pharmgkbrs121918337
gwascentralrs121918337
openSNPrs121918337
23andMers121918337
23andMe allrs121918337
SNP Nexus

SNPshotrs121918337
SNPdbers121918337
MSV3drs121918337
GWAS Ctlgrs121918337
Max Magnitude0
OMIM609414
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918337(T;T)
Alt rs121918337(T;T)
Reference rs121918337(C;C)
Significance Pathogenic
Disease Fleck corneal dystrophy
Variation info
Gene PIKFYVE
CLNDBN Fleck corneal dystrophy
Reversed 0
HGVS NC_000002.11:g.209190497C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001767.3,