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rs121918244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918244(C;T)
Make rs121918244(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position121781772
GeneIQCB1
is asnp
is mentioned by
dbSNPrs121918244
ebirs121918244
HLIrs121918244
Exacrs121918244
Varsomers121918244
Maprs121918244
PheGenIrs121918244
hapmaprs121918244
1000 genomesrs121918244
hgdprs121918244
ensemblrs121918244
gopubmedrs121918244
geneviewrs121918244
scholarrs121918244
googlers121918244
pharmgkbrs121918244
gwascentralrs121918244
openSNPrs121918244
23andMers121918244
23andMe allrs121918244
SNP Nexus

SNPshotrs121918244
SNPdbers121918244
MSV3drs121918244
GWAS Ctlgrs121918244
Max Magnitude0
OMIM609237
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918244(T;T)
Alt rs121918244(T;T)
Reference rs121918244(C;C)
Significance Pathogenic
Disease Senior-Loken syndrome 5 not provided Nephronophthisis
Variation info
Gene IQCB1
CLNDBN Senior-Loken syndrome 5 not provided Nephronophthisis
Reversed 1
HGVS NC_000003.11:g.121500619G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001904.5, RCV000079366.3, RCV000230781.1,