rs113994189

Orientation

plus

Stabilized

plus

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

Make rs113994189(-;-)

Make rs113994189(-;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

72709480

Gene

BBS4

is a	snp
is	mentioned by
dbSNP	rs113994189
dbSNP (classic)	rs113994189
ClinGen	rs113994189
ebi	rs113994189
HLI	rs113994189
Exac	rs113994189
Gnomad	rs113994189
Varsome	rs113994189
LitVar	rs113994189
Map	rs113994189
PheGenI	rs113994189
Biobank	rs113994189
1000 genomes	rs113994189
hgdp	rs113994189
ensembl	rs113994189
geneview	rs113994189
scholar	rs113994189
google	rs113994189
pharmgkb	rs113994189
gwascentral	rs113994189
openSNP	rs113994189
23andMe	rs113994189
SNPshot	rs113994189
SNPdbe	rs113994189
MSV3d	rs113994189
GWAS Ctlg	rs113994189

Max Magnitude

0

Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.

OMIM	600374
Desc
Variant	0002
Related	also

ClinVar
Risk	rs113994189(-;-)
Alt	rs113994189(-;-)
Reference	Rs113994189(A;A)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 4 Bardet-Biedl syndrome
Variation	info
Gene	BBS4
CLNDBN	Bardet-Biedl syndrome 4 Bardet-Biedl syndrome
Reversed	0
HGVS	NC_000015.9:g.73001821delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009717.3, RCV000020945.2,

[PMID 11381270] Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.