rs786205071

Orientation

minus

Stabilized

minus

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

Make rs786205071(-;A)

Make rs786205071(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

62694680

Gene	BSCL2, HNRNPUL2-BSCL2

is a	snp
is	mentioned by
dbSNP	rs786205071
dbSNP (classic)	rs786205071
ClinGen	rs786205071
ebi	rs786205071
HLI	rs786205071
Exac	rs786205071
Gnomad	rs786205071
Varsome	rs786205071
LitVar	rs786205071
Map	rs786205071
PheGenI	rs786205071
Biobank	rs786205071
1000 genomes	rs786205071
hgdp	rs786205071
ensembl	rs786205071
geneview	rs786205071
scholar	rs786205071
google	rs786205071
pharmgkb	rs786205071
gwascentral	rs786205071
openSNP	rs786205071
23andMe	rs786205071
SNPshot	rs786205071
SNPdbe	rs786205071
MSV3d	rs786205071
GWAS Ctlg	rs786205071

Max Magnitude

0

ClinVar
Risk	rs786205071(A;A)
Alt	rs786205071(A;A)
Reference	Rs786205071(-;-)
Significance	Pathogenic
Disease	Congenital generalized lipodystrophy type 2
Variation	info
Gene	HNRNPUL2-BSCL2 BSCL2
CLNDBN	Congenital generalized lipodystrophy type 2
Reversed	1
HGVS	NC_000011.9:g.62462153dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004794.3,