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rs137853300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853300(C;G)
Make rs137853300(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position32859277
GeneSYN3, TIMP3
is asnp
is mentioned by
dbSNPrs137853300
ebirs137853300
HLIrs137853300
Exacrs137853300
Varsomers137853300
Maprs137853300
PheGenIrs137853300
hapmaprs137853300
1000 genomesrs137853300
hgdprs137853300
ensemblrs137853300
gopubmedrs137853300
geneviewrs137853300
scholarrs137853300
googlers137853300
pharmgkbrs137853300
gwascentralrs137853300
openSNPrs137853300
23andMers137853300
23andMe allrs137853300
SNP Nexus

SNPshotrs137853300
SNPdbers137853300
MSV3drs137853300
GWAS Ctlgrs137853300
Max Magnitude0
OMIM188826
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853300(G;G)
Alt rs137853300(G;G)
Reference rs137853300(C;C)
Significance Pathogenic
Disease Sorsby fundus dystrophy
Variation info
Gene SYN3 TIMP3
CLNDBN Sorsby fundus dystrophy
Reversed 0
HGVS NC_000022.10:g.33255264C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013515.24,