Have questions? Visit https://www.reddit.com/r/SNPedia

rs387907129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907129(C;C)
Make rs387907129(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position76479008
GeneRHBDF2
is asnp
is mentioned by
dbSNPrs387907129
ebirs387907129
HLIrs387907129
Exacrs387907129
Varsomers387907129
Maprs387907129
PheGenIrs387907129
hapmaprs387907129
1000 genomesrs387907129
hgdprs387907129
ensemblrs387907129
gopubmedrs387907129
geneviewrs387907129
scholarrs387907129
googlers387907129
pharmgkbrs387907129
gwascentralrs387907129
openSNPrs387907129
23andMers387907129
23andMe allrs387907129
SNP Nexus

SNPshotrs387907129
SNPdbers387907129
MSV3drs387907129
GWAS Ctlgrs387907129
Max Magnitude0
ClinVar
Risk rs387907129(C;C)
Alt rs387907129(C;C)
Reference rs387907129(T;T)
Significance Pathogenic
Disease Howel-Evans syndrome
Variation info
Gene RHBDF2
CLNDBN Howel-Evans syndrome
Reversed 1
HGVS NC_000017.10:g.74475090A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024177.3,