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rs7624750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs7624750(A;A)
Make rs7624750(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position193617202
GeneOPA1
is asnp
is mentioned by
dbSNPrs7624750
ebirs7624750
HLIrs7624750
Exacrs7624750
Varsomers7624750
Maprs7624750
PheGenIrs7624750
hapmaprs7624750
1000 genomesrs7624750
hgdprs7624750
ensemblrs7624750
gopubmedrs7624750
geneviewrs7624750
scholarrs7624750
googlers7624750
pharmgkbrs7624750
gwascentralrs7624750
openSNPrs7624750
23andMers7624750
23andMe allrs7624750
SNP Nexus

SNPshotrs7624750
SNPdbers7624750
MSV3drs7624750
GWAS Ctlgrs7624750
GMAF0.4573
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene OPA1
allele A
frequency 0.417
sift TOLERATED
HuRef 1103656334585
Disease Association Defects in OPA1 are a cause of optic atrophy type 1 (OPA1) (MIM:165500). OPA1 is a dominantly inherited optic neuropathy occurring in 1 in 50,000 individuals that features progressive loss in visual acuity leading, in many cases, to legal blindness.



GET Evidence
OPA1-S158N
aa_change Ser158Asn
aa_change_short S158N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.496373
summary



ClinVar
Risk rs7624750(A;A)
Alt rs7624750(A;A)
Reference rs7624750(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene OPA1
CLNDBN not specified
Reversed 0
HGVS NC_000003.11:g.193334991G>A
CLNSRC ClinVar Emory University GeneDx
CLNACC RCV000081768.5,