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rs387907369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907369(A;A)
Make rs387907369(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position5715095
GeneRNF216
is asnp
is mentioned by
dbSNPrs387907369
ebirs387907369
HLIrs387907369
Exacrs387907369
Varsomers387907369
Maprs387907369
PheGenIrs387907369
hapmaprs387907369
1000 genomesrs387907369
hgdprs387907369
ensemblrs387907369
gopubmedrs387907369
geneviewrs387907369
scholarrs387907369
googlers387907369
pharmgkbrs387907369
gwascentralrs387907369
openSNPrs387907369
23andMers387907369
23andMe allrs387907369
SNP Nexus

SNPshotrs387907369
SNPdbers387907369
MSV3drs387907369
GWAS Ctlgrs387907369
Max Magnitude0
ClinVar
Risk rs387907369(A;A)
Alt rs387907369(A;A)
Reference rs387907369(T;T)
Significance Pathogenic
Disease Gordon holmes syndrome
Variation info
Gene RNF216
CLNDBN Gordon holmes syndrome
Reversed 1
HGVS NC_000007.13:g.5754726A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043628.5,