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rs121907899

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907899(A;A)
Make rs121907899(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position110163048
GeneNPHP1
is asnp
is mentioned by
dbSNPrs121907899
ebirs121907899
HLIrs121907899
Exacrs121907899
Varsomers121907899
Maprs121907899
PheGenIrs121907899
hapmaprs121907899
1000 genomesrs121907899
hgdprs121907899
ensemblrs121907899
gopubmedrs121907899
geneviewrs121907899
scholarrs121907899
googlers121907899
pharmgkbrs121907899
gwascentralrs121907899
openSNPrs121907899
23andMers121907899
23andMe allrs121907899
SNP Nexus

SNPshotrs121907899
SNPdbers121907899
MSV3drs121907899
GWAS Ctlgrs121907899
GMAF0.0004591
Max Magnitude0
OMIM607100
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121907899(A;A)
Alt rs121907899(A;A)
Reference rs121907899(G;G)
Significance Pathogenic
Disease Nephronophthisis 1
Variation info
Gene NPHP1
CLNDBN Nephronophthisis 1
Reversed 1
HGVS NC_000002.11:g.110920625C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003685.2,