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rs587777274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777274(C;C)
Make rs587777274(C;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position93585367
GeneNR2F1
is asnp
is mentioned by
dbSNPrs587777274
dbSNP (classic)rs587777274
ClinGenrs587777274
ebirs587777274
HLIrs587777274
Exacrs587777274
Gnomadrs587777274
Varsomers587777274
LitVarrs587777274
Maprs587777274
PheGenIrs587777274
Biobankrs587777274
1000 genomesrs587777274
hgdprs587777274
ensemblrs587777274
geneviewrs587777274
scholarrs587777274
googlers587777274
pharmgkbrs587777274
gwascentralrs587777274
openSNPrs587777274
23andMers587777274
SNPshotrs587777274
SNPdbers587777274
MSV3drs587777274
GWAS Ctlgrs587777274
Max Magnitude0
ClinVar
Risk rs587777274(C;C)
Alt rs587777274(C;C)
Reference Rs587777274(G;G)
Significance Other
Disease Bosch-Boonstra-Schaaf optic atrophy syndrome
Variation info
Gene NR2F1
CLNDBN Bosch-Boonstra-Schaaf optic atrophy syndrome
Reversed 0
HGVS NC_000005.9:g.92921073G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000114387.3,