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rs267607179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607179(G;T)
Make rs267607179(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position40924482
GeneXPNPEP3
is asnp
is mentioned by
dbSNPrs267607179
dbSNP (classic)rs267607179
ClinGenrs267607179
ebirs267607179
HLIrs267607179
Exacrs267607179
Gnomadrs267607179
Varsomers267607179
LitVarrs267607179
Maprs267607179
PheGenIrs267607179
Biobankrs267607179
1000 genomesrs267607179
hgdprs267607179
ensemblrs267607179
geneviewrs267607179
scholarrs267607179
googlers267607179
pharmgkbrs267607179
gwascentralrs267607179
openSNPrs267607179
23andMers267607179
SNPshotrs267607179
SNPdbers267607179
MSV3drs267607179
GWAS Ctlgrs267607179
Max Magnitude0
ClinVar
Risk rs267607179(T;T)
Alt rs267607179(T;T)
Reference Rs267607179(G;G)
Significance Pathogenic
Disease Nephronophthisis-like nephropathy 1
Variation info
Gene XPNPEP3
CLNDBN Nephronophthisis-like nephropathy 1
Reversed 0
HGVS NC_000022.10:g.41320486G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000068.3,