rs587777829

Orientation

plus

Stabilized

plus

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

Make rs587777829(A;A)

Make rs587777829(A;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

66514679

Gene

BBS1

is a	snp
is	mentioned by
dbSNP	rs587777829
dbSNP (classic)	rs587777829
ClinGen	rs587777829
ebi	rs587777829
HLI	rs587777829
Exac	rs587777829
Gnomad	rs587777829
Varsome	rs587777829
LitVar	rs587777829
Map	rs587777829
PheGenI	rs587777829
Biobank	rs587777829
1000 genomes	rs587777829
hgdp	rs587777829
ensembl	rs587777829
geneview	rs587777829
scholar	rs587777829
google	rs587777829
pharmgkb	rs587777829
gwascentral	rs587777829
openSNP	rs587777829
23andMe	rs587777829
SNPshot	rs587777829
SNPdbe	rs587777829
MSV3d	rs587777829
GWAS Ctlg	rs587777829

Max Magnitude

0

ClinVar
Risk	rs587777829(A;A)
Alt	rs587777829(A;A)
Reference	Rs587777829(G;G)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome
Variation	info
Gene	BBS1
CLNDBN	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome
Reversed	0
HGVS	NC_000011.9:g.66282150G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012928.23, RCV000169013.1,