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rs121912860

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912860(A;A)
Make rs121912860(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position227055971
GeneCOL4A4
is asnp
is mentioned by
dbSNPrs121912860
dbSNP (classic)rs121912860
ClinGenrs121912860
ebirs121912860
HLIrs121912860
Exacrs121912860
Gnomadrs121912860
Varsomers121912860
LitVarrs121912860
Maprs121912860
PheGenIrs121912860
Biobankrs121912860
1000 genomesrs121912860
hgdprs121912860
ensemblrs121912860
geneviewrs121912860
scholarrs121912860
googlers121912860
pharmgkbrs121912860
gwascentralrs121912860
openSNPrs121912860
23andMers121912860
SNPshotrs121912860
SNPdbers121912860
MSV3drs121912860
GWAS Ctlgrs121912860
Max Magnitude0
OMIM120131
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912860(A;A)
Alt rs121912860(A;A)
Reference Rs121912860(G;G)
Significance Pathogenic
Disease Benign familial hematuria
Variation info
Gene COL4A4
CLNDBN Benign familial hematuria
Reversed 1
HGVS NC_000002.11:g.227920687C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018949.23,