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rs1057519434

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519434(A;A)
Make rs1057519434(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position93585436
GeneNR2F1
is asnp
is mentioned by
dbSNPrs1057519434
dbSNP (old)rs1057519434
ClinGenrs1057519434
ebirs1057519434
HLIrs1057519434
Exacrs1057519434
Gnomadrs1057519434
Varsomers1057519434
LitVarrs1057519434
Maprs1057519434
PheGenIrs1057519434
Biobankrs1057519434
1000 genomesrs1057519434
hgdprs1057519434
ensemblrs1057519434
gopubmedrs1057519434
geneviewrs1057519434
scholarrs1057519434
googlers1057519434
pharmgkbrs1057519434
gwascentralrs1057519434
openSNPrs1057519434
23andMers1057519434
23andMe allrs1057519434
SNPshotrs1057519434
SNPdbers1057519434
MSV3drs1057519434
GWAS Ctlgrs1057519434
Max Magnitude0
ClinVar
Risk rs1057519434(A;A)
Alt rs1057519434(A;A)
Reference Rs1057519434(G;G)
Significance Pathogenic
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.92921142G>A
CLNSRC
CLNACC RCV000416416.1,