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

rs373785974

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs373785974(C;C)
Make rs373785974(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5741113
GeneRNF216
is asnp
is mentioned by
dbSNPrs373785974
ebirs373785974
HLIrs373785974
Exacrs373785974
Varsomers373785974
Maprs373785974
PheGenIrs373785974
hapmaprs373785974
1000 genomesrs373785974
hgdprs373785974
ensemblrs373785974
gopubmedrs373785974
geneviewrs373785974
scholarrs373785974
googlers373785974
pharmgkbrs373785974
gwascentralrs373785974
openSNPrs373785974
23andMers373785974
23andMe allrs373785974
SNP Nexus

SNPshotrs373785974
SNPdbers373785974
MSV3drs373785974
GWAS Ctlgrs373785974
Max Magnitude0
ClinVar
Risk rs373785974(C;C)
Alt rs373785974(C;C)
Reference rs373785974(G;G)
Significance Pathogenic
Disease Gordon holmes syndrome
Variation info
Gene RNF216
CLNDBN Gordon holmes syndrome
Reversed 0
HGVS NC_000007.13:g.5780744G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000180794.2,