rs2277598

Orientation

minus

Stabilized

minus

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

Make rs2277598(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

72735137

Gene

BBS4

is a	snp
is	mentioned by
dbSNP	rs2277598
dbSNP (classic)	rs2277598
ClinGen	rs2277598
ebi	rs2277598
HLI	rs2277598
Exac	rs2277598
Gnomad	rs2277598
Varsome	rs2277598
LitVar	rs2277598
Map	rs2277598
PheGenI	rs2277598
Biobank	rs2277598
1000 genomes	rs2277598
hgdp	rs2277598
ensembl	rs2277598
geneview	rs2277598
scholar	rs2277598
google	rs2277598
pharmgkb	rs2277598
gwascentral	rs2277598
openSNP	rs2277598
23andMe	rs2277598
SNPshot	rs2277598
SNPdbe	rs2277598
MSV3d	rs2277598
GWAS Ctlg	rs2277598

GMAF

0.4509

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	Rs2277598(G;G)
Alt	Rs2277598(G;G)
Reference	Rs2277598(A;A)
Significance	Probable-non-pathogenic
Disease	Bardet-Biedl syndrome not provided not specified
Variation	info
Gene	BBS4
CLNDBN	Bardet-Biedl syndrome not provided not specified
Reversed	1
HGVS	NC_000015.9:g.73027478T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020938.3, RCV000132688.1, RCV000152842.4,

[PMID 12016587] BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.