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rs121964994

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964994(C;T)
Make rs121964994(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position100284342
GeneINVS
is asnp
is mentioned by
dbSNPrs121964994
dbSNP (classic)rs121964994
ClinGenrs121964994
ebirs121964994
HLIrs121964994
Exacrs121964994
Gnomadrs121964994
Varsomers121964994
LitVarrs121964994
Maprs121964994
PheGenIrs121964994
Biobankrs121964994
1000 genomesrs121964994
hgdprs121964994
ensemblrs121964994
geneviewrs121964994
scholarrs121964994
googlers121964994
pharmgkbrs121964994
gwascentralrs121964994
openSNPrs121964994
23andMers121964994
SNPshotrs121964994
SNPdbers121964994
MSV3drs121964994
GWAS Ctlgrs121964994
Max Magnitude0
OMIM243305
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121964994(T;T)
Alt rs121964994(T;T)
Reference Rs121964994(C;C)
Significance Pathogenic
Disease Infantile nephronophthisis
Variation info
Gene INVS
CLNDBN Infantile nephronophthisis
Reversed 0
HGVS NC_000009.11:g.103046624C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012737.17,