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rs121918336

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918336(A;G)
Make rs121918336(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position208326119
GenePIKFYVE
is asnp
is mentioned by
dbSNPrs121918336
ebirs121918336
HLIrs121918336
Exacrs121918336
Varsomers121918336
Maprs121918336
PheGenIrs121918336
hapmaprs121918336
1000 genomesrs121918336
hgdprs121918336
ensemblrs121918336
gopubmedrs121918336
geneviewrs121918336
scholarrs121918336
googlers121918336
pharmgkbrs121918336
gwascentralrs121918336
openSNPrs121918336
23andMers121918336
23andMe allrs121918336
SNP Nexus

SNPshotrs121918336
SNPdbers121918336
MSV3drs121918336
GWAS Ctlgrs121918336
Max Magnitude0
OMIM609414
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918336(G;G)
Alt rs121918336(G;G)
Reference rs121918336(A;A)
Significance Pathogenic
Disease Fleck corneal dystrophy
Variation info
Gene PIKFYVE
CLNDBN Fleck corneal dystrophy
Reversed 0
HGVS NC_000002.11:g.209190843A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001766.3,