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rs797045176

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045176(C;T)
Make rs797045176(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position116559174
GeneCAV1
is asnp
is mentioned by
dbSNPrs797045176
ebirs797045176
HLIrs797045176
Exacrs797045176
Varsomers797045176
Maprs797045176
PheGenIrs797045176
hapmaprs797045176
1000 genomesrs797045176
hgdprs797045176
ensemblrs797045176
gopubmedrs797045176
geneviewrs797045176
scholarrs797045176
googlers797045176
pharmgkbrs797045176
gwascentralrs797045176
openSNPrs797045176
23andMers797045176
23andMe allrs797045176
SNP Nexus

SNPshotrs797045176
SNPdbers797045176
MSV3drs797045176
GWAS Ctlgrs797045176
Max Magnitude0
ClinVar
Risk rs797045176(T;T)
Alt rs797045176(T;T)
Reference rs797045176(C;C)
Significance Pathogenic
Disease Lipodystrophy
Variation info
Gene CAV1
CLNDBN Lipodystrophy, congenital generalized, type 3
Reversed 0
HGVS NC_000007.13:g.116199228C>T
CLNSRC
CLNACC RCV000191043.1,