Have questions? Visit https://www.reddit.com/r/SNPedia

rs2491097

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs2491097(C;T)
Make rs2491097(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position100240169
GeneINVS
is asnp
is mentioned by
dbSNPrs2491097
ebirs2491097
HLIrs2491097
Exacrs2491097
Varsomers2491097
Maprs2491097
PheGenIrs2491097
hapmaprs2491097
1000 genomesrs2491097
hgdprs2491097
ensemblrs2491097
gopubmedrs2491097
geneviewrs2491097
scholarrs2491097
googlers2491097
pharmgkbrs2491097
gwascentralrs2491097
openSNPrs2491097
23andMers2491097
23andMe allrs2491097
SNP Nexus

SNPshotrs2491097
SNPdbers2491097
MSV3drs2491097
GWAS Ctlgrs2491097
GMAF0.004591
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene INVS
allele T
frequency 0.009
sift AFFECT FUNCTION
HuRef 1103652140951
Disease Association Defects in INVS are the cause of nephronophthisis 2 (NPHP2) (MIM:602088). NPHP2 is a recessive disorder characterized by chronic renal failure in children, including tubular basement membrane disruption and renal interstitial fibrosis and enlarged kidneys and widespread cyst development. Some patients also display situs inversus.



ClinVar
Risk rs2491097(T;T)
Alt rs2491097(T;T)
Reference Rs2491097(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene INVS
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.103002451C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000081631.5,