rs1057516449

Orientation

plus

Stabilized

plus

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

Make rs1057516449(C;C)

Make rs1057516449(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

66511090

Gene

BBS1

is a	snp
is	mentioned by
dbSNP	rs1057516449
dbSNP (classic)	rs1057516449
ClinGen	rs1057516449
ebi	rs1057516449
HLI	rs1057516449
Exac	rs1057516449
Gnomad	rs1057516449
Varsome	rs1057516449
LitVar	rs1057516449
Map	rs1057516449
PheGenI	rs1057516449
Biobank	rs1057516449
1000 genomes	rs1057516449
hgdp	rs1057516449
ensembl	rs1057516449
geneview	rs1057516449
scholar	rs1057516449
google	rs1057516449
pharmgkb	rs1057516449
gwascentral	rs1057516449
openSNP	rs1057516449
23andMe	rs1057516449
23andMe all	rs1057516449
SNPshot	rs1057516449
SNPdbe	rs1057516449
MSV3d	rs1057516449
GWAS Ctlg	rs1057516449

Max Magnitude

0

ClinVar
Risk	rs1057516449(C;C)
Alt	rs1057516449(C;C)
Reference	Rs1057516449(G;G)
Significance	Probable-Pathogenic
Disease	Bardet-Biedl syndrome
Variation	info
Gene	BBS1
CLNDBN	Bardet-Biedl syndrome
Reversed	0
HGVS	NC_000011.9:g.66278561G>C
CLNSRC
CLNACC	RCV000411354.1,