rs1013079991

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

62692475

Gene	BSCL2, HNRNPUL2-BSCL2

is a	snp
is	mentioned by
dbSNP	rs1013079991
dbSNP (classic)	rs1013079991
ClinGen	rs1013079991
ebi	rs1013079991
HLI	rs1013079991
Exac	rs1013079991
Gnomad	rs1013079991
Varsome	rs1013079991
LitVar	rs1013079991
Map	rs1013079991
PheGenI	rs1013079991
Biobank	rs1013079991
1000 genomes	rs1013079991
hgdp	rs1013079991
ensembl	rs1013079991
geneview	rs1013079991
scholar	rs1013079991
google	rs1013079991
pharmgkb	rs1013079991
gwascentral	rs1013079991
openSNP	rs1013079991
23andMe	rs1013079991
SNPshot	rs1013079991
SNPdbe	rs1013079991
MSV3d	rs1013079991
GWAS Ctlg	rs1013079991

Max Magnitude

0

ClinVar
Risk	rs1013079991(C;C)
Alt	rs1013079991(C;C)
Reference	Rs1013079991(T;T)
Significance	Pathogenic
Disease	Congenital generalized lipodystrophy type 2
Variation	info
Gene
CLNDBN	Congenital generalized lipodystrophy type 2
Reversed	0
HGVS	NC_000011.9:g.62459947T>C
CLNSRC
CLNACC	RCV000412607.1,