rs786205068

Orientation

minus

Stabilized

minus

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

Make rs786205068(CC;GGA)

Make rs786205068(GGA;GGA)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

62705320

Gene	BSCL2, GNG3, HNRNPUL2-BSCL2

is a	snp
is	mentioned by
dbSNP	rs786205068
dbSNP (classic)	rs786205068
ClinGen	rs786205068
ebi	rs786205068
HLI	rs786205068
Exac	rs786205068
Gnomad	rs786205068
Varsome	rs786205068
LitVar	rs786205068
Map	rs786205068
PheGenI	rs786205068
Biobank	rs786205068
1000 genomes	rs786205068
hgdp	rs786205068
ensembl	rs786205068
geneview	rs786205068
scholar	rs786205068
google	rs786205068
pharmgkb	rs786205068
gwascentral	rs786205068
openSNP	rs786205068
23andMe	rs786205068
SNPshot	rs786205068
SNPdbe	rs786205068
MSV3d	rs786205068
GWAS Ctlg	rs786205068

Max Magnitude

0

ClinVar
Risk	rs786205068(GGA;GGA)
Alt	rs786205068(GGA;GGA)
Reference	Rs786205068(CC;CC)
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.62472792_62472793delGGinsTCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004789.3,