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rs794728000

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728000(A;A)
Make rs794728000(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position5729454
GeneRNF216
is asnp
is mentioned by
dbSNPrs794728000
ebirs794728000
HLIrs794728000
Exacrs794728000
Varsomers794728000
Maprs794728000
PheGenIrs794728000
hapmaprs794728000
1000 genomesrs794728000
hgdprs794728000
ensemblrs794728000
gopubmedrs794728000
geneviewrs794728000
scholarrs794728000
googlers794728000
pharmgkbrs794728000
gwascentralrs794728000
openSNPrs794728000
23andMers794728000
23andMe allrs794728000
SNP Nexus

SNPshotrs794728000
SNPdbers794728000
MSV3drs794728000
GWAS Ctlgrs794728000
Max Magnitude0
ClinVar
Risk rs794728000(A;A)
Alt rs794728000(A;A)
Reference rs794728000(G;G)
Significance Pathogenic
Disease Gordon holmes syndrome
Variation info
Gene RNF216
CLNDBN Gordon holmes syndrome
Reversed 1
HGVS NC_000007.13:g.5769085C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000180793.2,