rs119466002

Orientation

minus

Stabilized

minus

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

Make rs119466002(C;T)

Make rs119466002(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

121854790

Gene

BBS7

is a	snp
is	mentioned by
dbSNP	rs119466002
dbSNP (classic)	rs119466002
ClinGen	rs119466002
ebi	rs119466002
HLI	rs119466002
Exac	rs119466002
Gnomad	rs119466002
Varsome	rs119466002
LitVar	rs119466002
Map	rs119466002
PheGenI	rs119466002
Biobank	rs119466002
1000 genomes	rs119466002
hgdp	rs119466002
ensembl	rs119466002
geneview	rs119466002
scholar	rs119466002
google	rs119466002
pharmgkb	rs119466002
gwascentral	rs119466002
openSNP	rs119466002
23andMe	rs119466002
SNPshot	rs119466002
SNPdbe	rs119466002
MSV3d	rs119466002
GWAS Ctlg	rs119466002

Max Magnitude

0

OMIM	607590
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119466002(T;T)
Alt	rs119466002(T;T)
Reference	Rs119466002(C;C)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 1/7 Bardet-Biedl syndrome
Variation	info
Gene	BBS7
CLNDBN	Bardet-Biedl syndrome 1/7, digenic Bardet-Biedl syndrome
Reversed	1
HGVS	NC_000004.11:g.122775945G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003152.3, RCV000456825.1,