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rs374385878

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs374385878(A;A)
Make rs374385878(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position61503433
GeneASPH
is asnp
is mentioned by
dbSNPrs374385878
ebirs374385878
HLIrs374385878
Exacrs374385878
Varsomers374385878
Maprs374385878
PheGenIrs374385878
hapmaprs374385878
1000 genomesrs374385878
hgdprs374385878
ensemblrs374385878
gopubmedrs374385878
geneviewrs374385878
scholarrs374385878
googlers374385878
pharmgkbrs374385878
gwascentralrs374385878
openSNPrs374385878
23andMers374385878
23andMe allrs374385878
SNP Nexus

SNPshotrs374385878
SNPdbers374385878
MSV3drs374385878
GWAS Ctlgrs374385878
Max Magnitude0
ClinVar
Risk rs374385878(A;A)
Alt rs374385878(A;A)
Reference rs374385878(G;G)
Significance Pathogenic
Disease Facial dysmorphism
Variation info
Gene ASPH
CLNDBN Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
Reversed 0
HGVS NC_000008.10:g.62415992G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000125464.2,