rs121918328

Orientation

plus

Stabilized

plus

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

Make rs121918328(C;C)

Make rs121918328(C;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

122742757

Gene

BBS12

is a	snp
is	mentioned by
dbSNP	rs121918328
dbSNP (classic)	rs121918328
ClinGen	rs121918328
ebi	rs121918328
HLI	rs121918328
Exac	rs121918328
Gnomad	rs121918328
Varsome	rs121918328
LitVar	rs121918328
Map	rs121918328
PheGenI	rs121918328
Biobank	rs121918328
1000 genomes	rs121918328
hgdp	rs121918328
ensembl	rs121918328
geneview	rs121918328
scholar	rs121918328
google	rs121918328
pharmgkb	rs121918328
gwascentral	rs121918328
openSNP	rs121918328
23andMe	rs121918328
SNPshot	rs121918328
SNPdbe	rs121918328
MSV3d	rs121918328
GWAS Ctlg	rs121918328

Max Magnitude

0

OMIM	610683
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918328(C;C)
Alt	rs121918328(C;C)
Reference	Rs121918328(G;G)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 12
Variation	info
Gene	BBS12
CLNDBN	Bardet-Biedl syndrome 12
Reversed	0
HGVS	NC_000004.11:g.123663912G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001209.3,