rs35520756

Orientation

plus

Stabilized

plus

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

Make rs35520756(A;A)

Make rs35520756(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66519725

Gene

BBS1

is a	snp
is	mentioned by
dbSNP	rs35520756
dbSNP (classic)	rs35520756
ClinGen	rs35520756
ebi	rs35520756
HLI	rs35520756
Exac	rs35520756
Gnomad	rs35520756
Varsome	rs35520756
LitVar	rs35520756
Map	rs35520756
PheGenI	rs35520756
Biobank	rs35520756
1000 genomes	rs35520756
hgdp	rs35520756
ensembl	rs35520756
geneview	rs35520756
scholar	rs35520756
google	rs35520756
pharmgkb	rs35520756
gwascentral	rs35520756
openSNP	rs35520756
23andMe	rs35520756
SNPshot	rs35520756
SNPdbe	rs35520756
MSV3d	rs35520756
GWAS Ctlg	rs35520756

GMAF

0.02066

Max Magnitude

0

OMIM	209901
Desc
Variant	0006
Related	also

?	(A;A) (A;G) (G;G)

ClinVar
Risk	rs35520756(A;A)
Alt	rs35520756(A;A)
Reference	Rs35520756(G;G)
Significance	Other
Disease	Bardet-Biedl syndrome not specified not provided
Variation	info
Gene	BBS1
CLNDBN	Bardet-Biedl syndrome not specified not provided
Reversed	0
HGVS	NC_000011.9:g.66287196G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000029405.7, RCV000243662.2, RCV000436346.1,

[PMID 12567324] Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

[PMID 12677556] Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.