rs4784677

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(T;T)	0	common in complete genomics

Make rs4784677(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

56514589

Gene

BBS2

is a	snp
is	mentioned by
dbSNP	rs4784677
dbSNP (classic)	rs4784677
ClinGen	rs4784677
ebi	rs4784677
HLI	rs4784677
Exac	rs4784677
Gnomad	rs4784677
Varsome	rs4784677
LitVar	rs4784677
Map	rs4784677
PheGenI	rs4784677
Biobank	rs4784677
1000 genomes	rs4784677
hgdp	rs4784677
ensembl	rs4784677
geneview	rs4784677
scholar	rs4784677
google	rs4784677
pharmgkb	rs4784677
gwascentral	rs4784677
openSNP	rs4784677
23andMe	rs4784677
SNPshot	rs4784677
SNPdbe	rs4784677
MSV3d	rs4784677
GWAS Ctlg	rs4784677

GMAF

0.004132

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

OMIM	606151
Desc
Variant	0013
Related	also

ClinVar
Risk	Rs4784677(T;T)
Alt	Rs4784677(T;T)
Reference	Rs4784677(C;C)
Significance	Pathogenic
Disease	Bardet-biedl syndrome 2/6 not specified
Variation	info
Gene	BBS2
CLNDBN	Bardet-biedl syndrome 2/6, digenic not specified
Reversed	0
HGVS	NC_000016.9:g.56548501C\x3d; NC_000016.9:g.56548501C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004838.4, RCV000301991.1,