rs879255578

Orientation

plus

Stabilized

plus

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

Make rs879255578(-;-)

Make rs879255578(-;A)

Reference

GRCh38.p7 38.3/149

Chromosome

7

Position

116559150

Gene

CAV1

is a	snp
is	mentioned by
dbSNP	rs879255578
dbSNP (classic)	rs879255578
ClinGen	rs879255578
ebi	rs879255578
HLI	rs879255578
Exac	rs879255578
Gnomad	rs879255578
Varsome	rs879255578
LitVar	rs879255578
Map	rs879255578
PheGenI	rs879255578
Biobank	rs879255578
1000 genomes	rs879255578
hgdp	rs879255578
ensembl	rs879255578
geneview	rs879255578
scholar	rs879255578
google	rs879255578
pharmgkb	rs879255578
gwascentral	rs879255578
openSNP	rs879255578
23andMe	rs879255578
SNPshot	rs879255578
SNPdbe	rs879255578
MSV3d	rs879255578
GWAS Ctlg	rs879255578

Max Magnitude

0

ClinVar
Risk	rs879255578(-;-)
Alt	rs879255578(-;-)
Reference	Rs879255578(A;A)
Significance	Pathogenic
Disease	Partial lipodystrophy
Variation	info
Gene	CAV1
CLNDBN	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Reversed	0
HGVS	NC_000007.13:g.116199204delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000186515.2,