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rs797044871

From SNPedia

Orientationplus
Make rs797044871(-;-)
Make rs797044871(-;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position116559229
GeneCAV1
is asnp
is mentioned by
dbSNPrs797044871
ebirs797044871
HLIrs797044871
Exacrs797044871
Varsomers797044871
Maprs797044871
PheGenIrs797044871
hapmaprs797044871
1000 genomesrs797044871
hgdprs797044871
ensemblrs797044871
gopubmedrs797044871
geneviewrs797044871
scholarrs797044871
googlers797044871
pharmgkbrs797044871
gwascentralrs797044871
openSNPrs797044871
23andMers797044871
23andMe allrs797044871
SNP Nexus

SNPshotrs797044871
SNPdbers797044871
MSV3drs797044871
GWAS Ctlgrs797044871
Max Magnitude
ClinVar
Risk rs797044871(;)
Alt rs797044871(;)
Reference rs797044871(TT;TT)
Significance Pathogenic
Disease Inborn genetic diseases Lipodystrophy Primary pulmonary hypertension 3
Variation info
Gene CAV1
CLNDBN Inborn genetic diseases Lipodystrophy, congenital generalized, type 3 Primary pulmonary hypertension 3
Reversed 0
HGVS NC_000007.13:g.116199283_116199284delTT
CLNSRC
CLNACC RCV000190679.1, RCV000191044.1,