rs587777606

Orientation

plus

Stabilized

plus

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

Make rs587777606(A;A)

Make rs587777606(A;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

62691300

Gene	BSCL2, HNRNPUL2-BSCL2, LRRN4CL

is a	snp
is	mentioned by
dbSNP	rs587777606
dbSNP (classic)	rs587777606
ClinGen	rs587777606
ebi	rs587777606
HLI	rs587777606
Exac	rs587777606
Gnomad	rs587777606
Varsome	rs587777606
LitVar	rs587777606
Map	rs587777606
PheGenI	rs587777606
Biobank	rs587777606
1000 genomes	rs587777606
hgdp	rs587777606
ensembl	rs587777606
geneview	rs587777606
scholar	rs587777606
google	rs587777606
pharmgkb	rs587777606
gwascentral	rs587777606
openSNP	rs587777606
23andMe	rs587777606
SNPshot	rs587777606
SNPdbe	rs587777606
MSV3d	rs587777606
GWAS Ctlg	rs587777606

Max Magnitude

0

ClinVar
Risk	rs587777606(A;A)
Alt	rs587777606(A;A)
Reference	Rs587777606(G;G)
Significance	Pathogenic
Disease	Encephalopathy Congenital generalized lipodystrophy type 2
Variation	info
Gene	HNRNPUL2-BSCL2 BSCL2 LRRN4CL
CLNDBN	Encephalopathy, progressive, with or without lipodystrophy Congenital generalized lipodystrophy type 2
Reversed	0
HGVS	NC_000011.9:g.62458772G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000133397.2, RCV000412493.1,