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rs387906550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906550(G;G)
Make rs387906550(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position196673968
GeneCFH
is asnp
is mentioned by
dbSNPrs387906550
dbSNP (classic)rs387906550
ClinGenrs387906550
ebirs387906550
HLIrs387906550
Exacrs387906550
Gnomadrs387906550
Varsomers387906550
LitVarrs387906550
Maprs387906550
PheGenIrs387906550
Biobankrs387906550
1000 genomesrs387906550
hgdprs387906550
ensemblrs387906550
geneviewrs387906550
scholarrs387906550
googlers387906550
pharmgkbrs387906550
gwascentralrs387906550
openSNPrs387906550
23andMers387906550
SNPshotrs387906550
SNPdbers387906550
MSV3drs387906550
GWAS Ctlgrs387906550
Max Magnitude0
ClinVar
Risk rs387906550(G;G)
Alt rs387906550(G;G)
Reference Rs387906550(T;T)
Significance Pathogenic
Disease Basal laminar drusen
Variation info
Gene CFH
CLNDBN Basal laminar drusen
Reversed 0
HGVS NC_000001.10:g.196643098T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018030.29,