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rs121434356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434356(A;A)
Make rs121434356(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position38784703
GeneFREM2
is asnp
is mentioned by
dbSNPrs121434356
ebirs121434356
HLIrs121434356
Exacrs121434356
Varsomers121434356
Maprs121434356
PheGenIrs121434356
hapmaprs121434356
1000 genomesrs121434356
hgdprs121434356
ensemblrs121434356
gopubmedrs121434356
geneviewrs121434356
scholarrs121434356
googlers121434356
pharmgkbrs121434356
gwascentralrs121434356
openSNPrs121434356
23andMers121434356
23andMe allrs121434356
SNP Nexus

SNPshotrs121434356
SNPdbers121434356
MSV3drs121434356
GWAS Ctlgrs121434356
Max Magnitude0
OMIM608945
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434356(A;A)
Alt rs121434356(A;A)
Reference rs121434356(G;G)
Significance Pathogenic
Disease Cryptophthalmos syndrome
Variation info
Gene FREM2
CLNDBN Cryptophthalmos syndrome
Reversed 0
HGVS NC_000013.10:g.39358840G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002064.2,