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rs121434345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434345(A;G)
Make rs121434345(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position60741596
GeneCHD7
is asnp
is mentioned by
dbSNPrs121434345
ebirs121434345
HLIrs121434345
Exacrs121434345
Varsomers121434345
Maprs121434345
PheGenIrs121434345
hapmaprs121434345
1000 genomesrs121434345
hgdprs121434345
ensemblrs121434345
gopubmedrs121434345
geneviewrs121434345
scholarrs121434345
googlers121434345
pharmgkbrs121434345
gwascentralrs121434345
openSNPrs121434345
23andMers121434345
23andMe allrs121434345
SNP Nexus

SNPshotrs121434345
SNPdbers121434345
MSV3drs121434345
GWAS Ctlgrs121434345
Max Magnitude0
OMIM608892
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121434345(G;G)
Alt rs121434345(G;G)
Reference rs121434345(A;A)
Significance Pathogenic
Disease Kallmann syndrome 5
Variation info
Gene CHD7
CLNDBN Kallmann syndrome 5
Reversed 0
HGVS NC_000008.10:g.61654155A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002116.2,