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

rs387907368

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907368(C;T)
Make rs387907368(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position5641285
GeneRNF216
is asnp
is mentioned by
dbSNPrs387907368
ebirs387907368
HLIrs387907368
Exacrs387907368
Varsomers387907368
Maprs387907368
PheGenIrs387907368
hapmaprs387907368
1000 genomesrs387907368
hgdprs387907368
ensemblrs387907368
gopubmedrs387907368
geneviewrs387907368
scholarrs387907368
googlers387907368
pharmgkbrs387907368
gwascentralrs387907368
openSNPrs387907368
23andMers387907368
23andMe allrs387907368
SNP Nexus

SNPshotrs387907368
SNPdbers387907368
MSV3drs387907368
GWAS Ctlgrs387907368
Max Magnitude0
ClinVar
Risk rs387907368(T;T)
Alt rs387907368(T;T)
Reference rs387907368(C;C)
Significance Pathogenic
Disease Gordon holmes syndrome
Variation info
Gene RNF216
CLNDBN Gordon holmes syndrome
Reversed 1
HGVS NC_000007.13:g.5680916G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043627.5,