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rs121434355

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434355(A;A)
Make rs121434355(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position38784709
GeneFREM2
is asnp
is mentioned by
dbSNPrs121434355
ebirs121434355
HLIrs121434355
Exacrs121434355
Varsomers121434355
Maprs121434355
PheGenIrs121434355
hapmaprs121434355
1000 genomesrs121434355
hgdprs121434355
ensemblrs121434355
gopubmedrs121434355
geneviewrs121434355
scholarrs121434355
googlers121434355
pharmgkbrs121434355
gwascentralrs121434355
openSNPrs121434355
23andMers121434355
23andMe allrs121434355
SNP Nexus

SNPshotrs121434355
SNPdbers121434355
MSV3drs121434355
GWAS Ctlgrs121434355
Max Magnitude0
OMIM608945
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434355(A;A)
Alt rs121434355(A;A)
Reference rs121434355(G;G)
Significance Pathogenic
Disease Cryptophthalmos syndrome
Variation info
Gene FREM2
CLNDBN Cryptophthalmos syndrome
Reversed 0
HGVS NC_000013.10:g.39358846G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002062.2,