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rs387907370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs387907370(-;-)
Make rs387907370(-;GA)
ReferenceGRCh38 38.1/141
Chromosome7
Position5741401
GeneRNF216
is asnp
is mentioned by
dbSNPrs387907370
ebirs387907370
HLIrs387907370
Exacrs387907370
Varsomers387907370
Maprs387907370
PheGenIrs387907370
hapmaprs387907370
1000 genomesrs387907370
hgdprs387907370
ensemblrs387907370
gopubmedrs387907370
geneviewrs387907370
scholarrs387907370
googlers387907370
pharmgkbrs387907370
gwascentralrs387907370
openSNPrs387907370
23andMers387907370
23andMe allrs387907370
SNP Nexus

SNPshotrs387907370
SNPdbers387907370
MSV3drs387907370
GWAS Ctlgrs387907370
Max Magnitude0
ClinVar
Risk rs387907370(;)
Alt rs387907370(;)
Reference rs387907370(GA;GA)
Significance Pathogenic
Disease Gordon holmes syndrome
Variation info
Gene RNF216
CLNDBN Gordon holmes syndrome
Reversed 1
HGVS NC_000007.13:g.5781032_5781033delTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000043629.4,