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rs587777275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777275(A;A)
Make rs587777275(A;C)
ReferenceGRCh38 38.1/142
Chromosome5
Position93585362
GeneNR2F1
is asnp
is mentioned by
dbSNPrs587777275
dbSNP (classic)rs587777275
ClinGenrs587777275
ebirs587777275
HLIrs587777275
Exacrs587777275
Gnomadrs587777275
Varsomers587777275
LitVarrs587777275
Maprs587777275
PheGenIrs587777275
Biobankrs587777275
1000 genomesrs587777275
hgdprs587777275
ensemblrs587777275
geneviewrs587777275
scholarrs587777275
googlers587777275
pharmgkbrs587777275
gwascentralrs587777275
openSNPrs587777275
23andMers587777275
SNPshotrs587777275
SNPdbers587777275
MSV3drs587777275
GWAS Ctlgrs587777275
Max Magnitude0
ClinVar
Risk rs587777275(A;A) rs587777275(T;T)
Alt rs587777275(A;A) rs587777275(T;T)
Reference Rs587777275(C;C)
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.92921068C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000114388.4,