rs119466001

Orientation

minus

Stabilized

minus

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

Make rs119466001(A;G)

Make rs119466001(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

121847473

Gene

BBS7

is a	snp
is	mentioned by
dbSNP	rs119466001
dbSNP (classic)	rs119466001
ClinGen	rs119466001
ebi	rs119466001
HLI	rs119466001
Exac	rs119466001
Gnomad	rs119466001
Varsome	rs119466001
LitVar	rs119466001
Map	rs119466001
PheGenI	rs119466001
Biobank	rs119466001
1000 genomes	rs119466001
hgdp	rs119466001
ensembl	rs119466001
geneview	rs119466001
scholar	rs119466001
google	rs119466001
pharmgkb	rs119466001
gwascentral	rs119466001
openSNP	rs119466001
23andMe	rs119466001
SNPshot	rs119466001
SNPdbe	rs119466001
MSV3d	rs119466001
GWAS Ctlg	rs119466001

Max Magnitude

0

OMIM	607590
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119466001(G;G)
Alt	rs119466001(G;G)
Reference	Rs119466001(A;A)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 7
Variation	info
Gene	BBS7
CLNDBN	Bardet-Biedl syndrome 7
Reversed	1
HGVS	NC_000004.11:g.122768628T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003151.3,