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rs387907110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907110(C;T)
Make rs387907110(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position120695236
GenePRDM5
is asnp
is mentioned by
dbSNPrs387907110
ebirs387907110
HLIrs387907110
Exacrs387907110
Varsomers387907110
Maprs387907110
PheGenIrs387907110
hapmaprs387907110
1000 genomesrs387907110
hgdprs387907110
ensemblrs387907110
gopubmedrs387907110
geneviewrs387907110
scholarrs387907110
googlers387907110
pharmgkbrs387907110
gwascentralrs387907110
openSNPrs387907110
23andMers387907110
23andMe allrs387907110
SNP Nexus

SNPshotrs387907110
SNPdbers387907110
MSV3drs387907110
GWAS Ctlgrs387907110
Max Magnitude0
ClinVar
Risk rs387907110(T;T)
Alt rs387907110(T;T)
Reference rs387907110(C;C)
Significance Pathogenic
Disease Brittle cornea syndrome 2
Variation info
Gene PRDM5
CLNDBN Brittle cornea syndrome 2
Reversed 1
HGVS NC_000004.11:g.121616391G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024107.2,