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rs121907898

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907898(A;A)
Make rs121907898(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position110201484
GeneNPHP1
is asnp
is mentioned by
dbSNPrs121907898
dbSNP (classic)rs121907898
ClinGenrs121907898
ebirs121907898
HLIrs121907898
Exacrs121907898
Gnomadrs121907898
Varsomers121907898
LitVarrs121907898
Maprs121907898
PheGenIrs121907898
Biobankrs121907898
1000 genomesrs121907898
hgdprs121907898
ensemblrs121907898
geneviewrs121907898
scholarrs121907898
googlers121907898
pharmgkbrs121907898
gwascentralrs121907898
openSNPrs121907898
23andMers121907898
SNPshotrs121907898
SNPdbers121907898
MSV3drs121907898
GWAS Ctlgrs121907898
Max Magnitude0
OMIM607100
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121907898(A;A)
Alt rs121907898(A;A)
Reference Rs121907898(T;T)
Significance Pathogenic
Disease Nephronophthisis 1 Nephronophthisis
Variation info
Gene NPHP1
CLNDBN Nephronophthisis 1 Nephronophthisis
Reversed 1
HGVS NC_000002.11:g.110959061A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003684.2, RCV000234828.1,