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rs137853299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853299(A;G)
Make rs137853299(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position32859313
GeneSYN3, TIMP3
is asnp
is mentioned by
dbSNPrs137853299
dbSNP (classic)rs137853299
ClinGenrs137853299
ebirs137853299
HLIrs137853299
Exacrs137853299
Gnomadrs137853299
Varsomers137853299
LitVarrs137853299
Maprs137853299
PheGenIrs137853299
Biobankrs137853299
1000 genomesrs137853299
hgdprs137853299
ensemblrs137853299
geneviewrs137853299
scholarrs137853299
googlers137853299
pharmgkbrs137853299
gwascentralrs137853299
openSNPrs137853299
23andMers137853299
SNPshotrs137853299
SNPdbers137853299
MSV3drs137853299
GWAS Ctlgrs137853299
Max Magnitude0
OMIM188826
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853299(G;G)
Alt rs137853299(G;G)
Reference Rs137853299(A;A)
Significance Pathogenic
Disease Sorsby fundus dystrophy
Variation info
Gene SYN3 TIMP3
CLNDBN Sorsby fundus dystrophy
Reversed 0
HGVS NC_000022.10:g.33255300A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013514.25,