rs121908178

Orientation

minus

Stabilized

minus

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

Make rs121908178(C;T)

Make rs121908178(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

56502454

Gene

BBS2

is a	snp
is	mentioned by
dbSNP	rs121908178
dbSNP (classic)	rs121908178
ClinGen	rs121908178
ebi	rs121908178
HLI	rs121908178
Exac	rs121908178
Gnomad	rs121908178
Varsome	rs121908178
LitVar	rs121908178
Map	rs121908178
PheGenI	rs121908178
Biobank	rs121908178
1000 genomes	rs121908178
hgdp	rs121908178
ensembl	rs121908178
geneview	rs121908178
scholar	rs121908178
google	rs121908178
pharmgkb	rs121908178
gwascentral	rs121908178
openSNP	rs121908178
23andMe	rs121908178
SNPshot	rs121908178
SNPdbe	rs121908178
MSV3d	rs121908178
GWAS Ctlg	rs121908178

Max Magnitude

0

OMIM	606151
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908178(T;T)
Alt	rs121908178(T;T)
Reference	Rs121908178(C;C)
Significance	Pathogenic
Disease	Bardet-biedl syndrome 2/4
Variation	info
Gene	BBS2
CLNDBN	Bardet-biedl syndrome 2/4, digenic
Reversed	1
HGVS	NC_000016.9:g.56536366G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004835.4,