rs797044871

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(TT;TT)	0	common in clinvar

Make rs797044871(-;-)

Make rs797044871(-;TT)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

116559229

Gene

CAV1

is a	snp
is	mentioned by
dbSNP	rs797044871
dbSNP (classic)	rs797044871
ClinGen	rs797044871
ebi	rs797044871
HLI	rs797044871
Exac	rs797044871
Gnomad	rs797044871
Varsome	rs797044871
LitVar	rs797044871
Map	rs797044871
PheGenI	rs797044871
Biobank	rs797044871
1000 genomes	rs797044871
hgdp	rs797044871
ensembl	rs797044871
geneview	rs797044871
scholar	rs797044871
google	rs797044871
pharmgkb	rs797044871
gwascentral	rs797044871
openSNP	rs797044871
23andMe	rs797044871
SNPshot	rs797044871
SNPdbe	rs797044871
MSV3d	rs797044871
GWAS Ctlg	rs797044871

Max Magnitude

0

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,