rs113624356

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	5	Bardet-Biedl syndrome 1 (reported)
(G;T)	3	Carrier of a Bardet-Biedl syndrome 1 mutation
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

11

Position

66526181

Gene	BBS1, ZDHHC24

is a	snp
is	mentioned by
dbSNP	rs113624356
dbSNP (classic)	rs113624356
ClinGen	rs113624356
ebi	rs113624356
HLI	rs113624356
Exac	rs113624356
Gnomad	rs113624356
Varsome	rs113624356
LitVar	rs113624356
Map	rs113624356
PheGenI	rs113624356
Biobank	rs113624356
1000 genomes	rs113624356
hgdp	rs113624356
ensembl	rs113624356
geneview	rs113624356
scholar	rs113624356
google	rs113624356
pharmgkb	rs113624356
gwascentral	rs113624356
openSNP	rs113624356
23andMe	rs113624356
SNPshot	rs113624356
SNPdbe	rs113624356
MSV3d	rs113624356
GWAS Ctlg	rs113624356

GMAF

0.001377

Max Magnitude

5

aka c.1169T>G (p.Met390Arg or M390R)

see also: OMIM 209901.0001

OMIM	209901
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs113624356(G;G)
Alt	Rs113624356(G;G)
Reference	Rs113624356(T;T)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 1 not provided Bardet-Biedl syndrome Retinal dystrophy
Variation	info
Gene	BBS1 ZDHHC24
CLNDBN	Bardet-Biedl syndrome 1 not provided Bardet-Biedl syndrome Retinal dystrophy
Reversed	0
HGVS	NC_000011.9:g.66293652T>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012926.24, RCV000082202.5, RCV000174408.4, RCV000210319.1,