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rs121434501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434501(G;T)
Make rs121434501(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position116526606
GeneCAV1
is asnp
is mentioned by
dbSNPrs121434501
ebirs121434501
HLIrs121434501
Exacrs121434501
Varsomers121434501
Maprs121434501
PheGenIrs121434501
hapmaprs121434501
1000 genomesrs121434501
hgdprs121434501
ensemblrs121434501
gopubmedrs121434501
geneviewrs121434501
scholarrs121434501
googlers121434501
pharmgkbrs121434501
gwascentralrs121434501
openSNPrs121434501
23andMers121434501
23andMe allrs121434501
SNP Nexus

SNPshotrs121434501
SNPdbers121434501
MSV3drs121434501
GWAS Ctlgrs121434501
Max Magnitude0
OMIM601047
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434501(T;T)
Alt rs121434501(T;T)
Reference rs121434501(G;G)
Significance Pathogenic
Disease Lipodystrophy
Variation info
Gene CAV1
CLNDBN Lipodystrophy, congenital generalized, type 3
Reversed 0
HGVS NC_000007.13:g.116166660G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008988.3,