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rs387907130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907130(C;T)
Make rs387907130(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position76478999
GeneRHBDF2
is asnp
is mentioned by
dbSNPrs387907130
ebirs387907130
HLIrs387907130
Exacrs387907130
Varsomers387907130
Maprs387907130
PheGenIrs387907130
hapmaprs387907130
1000 genomesrs387907130
hgdprs387907130
ensemblrs387907130
gopubmedrs387907130
geneviewrs387907130
scholarrs387907130
googlers387907130
pharmgkbrs387907130
gwascentralrs387907130
openSNPrs387907130
23andMers387907130
23andMe allrs387907130
SNP Nexus

SNPshotrs387907130
SNPdbers387907130
MSV3drs387907130
GWAS Ctlgrs387907130
Max Magnitude0
ClinVar
Risk rs387907130(T;T)
Alt rs387907130(T;T)
Reference rs387907130(C;C)
Significance Pathogenic
Disease Howel-Evans syndrome
Variation info
Gene RHBDF2
CLNDBN Howel-Evans syndrome
Reversed 1
HGVS NC_000017.10:g.74475081G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024178.5,