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rs121908417

From SNPedia

Focal segmental glomerulosclerosis
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3.5 Focal segmental glomerulosclerosis 1 (possible)
(T;T) 0 common in clinvar


Make rs121908417(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38710307
GeneACTN4, LOC107985291
is asnp
is mentioned by
dbSNPrs121908417
dbSNP (old)rs121908417
ClinGenrs121908417
ebirs121908417
HLIrs121908417
Exacrs121908417
Gnomadrs121908417
Varsomers121908417
Maprs121908417
PheGenIrs121908417
Biobankrs121908417
1000 genomesrs121908417
hgdprs121908417
ensemblrs121908417
gopubmedrs121908417
geneviewrs121908417
scholarrs121908417
googlers121908417
pharmgkbrs121908417
gwascentralrs121908417
openSNPrs121908417
23andMers121908417
23andMe allrs121908417
SNP Nexus

SNPshotrs121908417
SNPdbers121908417
MSV3drs121908417
GWAS Ctlgrs121908417
Merged fromRs28939376
Max Magnitude3.5

Focal segmental glomerulosclerosis

Called i5900587 by 23andMe

OMIM604638
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908417(C;C)
Alt rs121908417(C;C)
Reference Rs121908417(T;T)
Significance Pathogenic
Disease Focal segmental glomerulosclerosis 1
Variation info
Gene ACTN4
CLNDBN Focal segmental glomerulosclerosis 1
Reversed 0
HGVS NC_000019.9:g.39200947T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005755.4,