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rs121434422

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434422(A;A)
Make rs121434422(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position18869035
GeneGDF1, LASS1
is asnp
is mentioned by
dbSNPrs121434422
ebirs121434422
HLIrs121434422
Exacrs121434422
Varsomers121434422
Maprs121434422
PheGenIrs121434422
hapmaprs121434422
1000 genomesrs121434422
hgdprs121434422
ensemblrs121434422
gopubmedrs121434422
geneviewrs121434422
scholarrs121434422
googlers121434422
pharmgkbrs121434422
gwascentralrs121434422
openSNPrs121434422
23andMers121434422
23andMe allrs121434422
SNP Nexus

SNPshotrs121434422
SNPdbers121434422
MSV3drs121434422
GWAS Ctlgrs121434422
Max Magnitude0
OMIM602880
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434422(A;A)
Alt rs121434422(A;A)
Reference rs121434422(C;C)
Significance Pathogenic
Disease Transposition of the great arteries Bilateral right-sidedness sequence Heterotaxy syndrome
Variation info
Gene CERS1 GDF1
CLNDBN Transposition of the great arteries, dextro-looped 3 Bilateral right-sidedness sequence Heterotaxy syndrome
Reversed 1
HGVS NC_000019.9:g.18979844G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007139.4, RCV000055615.3, RCV000197225.1,