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rs387907111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907111(A;G)
Make rs387907111(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position120821326
GenePRDM5
is asnp
is mentioned by
dbSNPrs387907111
ebirs387907111
HLIrs387907111
Exacrs387907111
Varsomers387907111
Maprs387907111
PheGenIrs387907111
hapmaprs387907111
1000 genomesrs387907111
hgdprs387907111
ensemblrs387907111
gopubmedrs387907111
geneviewrs387907111
scholarrs387907111
googlers387907111
pharmgkbrs387907111
gwascentralrs387907111
openSNPrs387907111
23andMers387907111
23andMe allrs387907111
SNP Nexus

SNPshotrs387907111
SNPdbers387907111
MSV3drs387907111
GWAS Ctlgrs387907111
Max Magnitude0
ClinVar
Risk rs387907111(G;G)
Alt rs387907111(G;G)
Reference rs387907111(A;A)
Significance Pathogenic
Disease Brittle cornea syndrome 2
Variation info
Gene PRDM5
CLNDBN Brittle cornea syndrome 2
Reversed 1
HGVS NC_000004.11:g.121742481T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024109.2,