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rs200060005

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200060005(C;T)
Make rs200060005(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position128338975
GeneFBN2
is asnp
is mentioned by
dbSNPrs200060005
ebirs200060005
HLIrs200060005
Exacrs200060005
Varsomers200060005
Maprs200060005
PheGenIrs200060005
hapmaprs200060005
1000 genomesrs200060005
hgdprs200060005
ensemblrs200060005
gopubmedrs200060005
geneviewrs200060005
scholarrs200060005
googlers200060005
pharmgkbrs200060005
gwascentralrs200060005
openSNPrs200060005
23andMers200060005
23andMe allrs200060005
SNP Nexus

SNPshotrs200060005
SNPdbers200060005
MSV3drs200060005
GWAS Ctlgrs200060005
Max Magnitude0
ClinVar
Risk rs200060005(G,T;G,T)
Alt rs200060005(G,T;G,T)
Reference rs200060005(C;C)
Significance Pathogenic
Disease Macular degeneration
Variation info
Gene FBN2
CLNDBN Macular degeneration, early-onset
Reversed 0
HGVS NC_000005.9:g.127674667C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000148948.3,