rs121908179

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	3	Carrier of a retinitis pigmentosa/Bardet-Biedl syndrome mutation

Make rs121908179(C;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

56514487

Gene

BBS2

is a	snp
is	mentioned by
dbSNP	rs121908179
dbSNP (classic)	rs121908179
ClinGen	rs121908179
ebi	rs121908179
HLI	rs121908179
Exac	rs121908179
Gnomad	rs121908179
Varsome	rs121908179
LitVar	rs121908179
Map	rs121908179
PheGenI	rs121908179
Biobank	rs121908179
1000 genomes	rs121908179
hgdp	rs121908179
ensembl	rs121908179
geneview	rs121908179
scholar	rs121908179
google	rs121908179
pharmgkb	rs121908179
gwascentral	rs121908179
openSNP	rs121908179
23andMe	rs121908179
SNPshot	rs121908179
SNPdbe	rs121908179
MSV3d	rs121908179
GWAS Ctlg	rs121908179

Max Magnitude

3

aka c.311A>C (p.Asp104Ala or D104A)

OMIM	606151
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121908179(C;C)
Alt	rs121908179(C;C)
Reference	Rs121908179(A;A)
Significance	Pathogenic
Disease	Bardet-biedl syndrome 1/2 Retinitis pigmentosa 74
Variation	info
Gene	BBS2
CLNDBN	Bardet-biedl syndrome 1/2, digenic Retinitis pigmentosa 74
Reversed	1
HGVS	NC_000016.9:g.56548399T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004839.6, RCV000190985.4,