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rs200844390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200844390(C;T)
Make rs200844390(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position100292952
GeneINVS
is asnp
is mentioned by
dbSNPrs200844390
ebirs200844390
HLIrs200844390
Exacrs200844390
Varsomers200844390
Maprs200844390
PheGenIrs200844390
hapmaprs200844390
1000 genomesrs200844390
hgdprs200844390
ensemblrs200844390
gopubmedrs200844390
geneviewrs200844390
scholarrs200844390
googlers200844390
pharmgkbrs200844390
gwascentralrs200844390
openSNPrs200844390
23andMers200844390
23andMe allrs200844390
SNP Nexus

SNPshotrs200844390
SNPdbers200844390
MSV3drs200844390
GWAS Ctlgrs200844390
Max Magnitude0
ClinVar
Risk rs200844390(A,T;A,T)
Alt rs200844390(A,T;A,T)
Reference rs200844390(C;C)
Significance Pathogenic
Disease Infantile nephronophthisis Nephronophthisis
Variation info
Gene INVS
CLNDBN Infantile nephronophthisis Nephronophthisis
Reversed 0
HGVS NC_000009.11:g.103055234C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012740.25, RCV000234825.1,