rs138043021

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Carrier of a Bardet-Biedl syndrome 2 mutation

Make rs138043021(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

56496982

Gene

BBS2

is a	snp
is	mentioned by
dbSNP	rs138043021
dbSNP (classic)	rs138043021
ClinGen	rs138043021
ebi	rs138043021
HLI	rs138043021
Exac	rs138043021
Gnomad	rs138043021
Varsome	rs138043021
LitVar	rs138043021
Map	rs138043021
PheGenI	rs138043021
Biobank	rs138043021
1000 genomes	rs138043021
hgdp	rs138043021
ensembl	rs138043021
geneview	rs138043021
scholar	rs138043021
google	rs138043021
pharmgkb	rs138043021
gwascentral	rs138043021
openSNP	rs138043021
23andMe	rs138043021
SNPshot	rs138043021
SNPdbe	rs138043021
MSV3d	rs138043021
GWAS Ctlg	rs138043021

Max Magnitude

3

aka c.1895G>C (p.Arg632Pro or R632P)

ClinVar
Risk	rs138043021(G;G) rs138043021(T;T)
Alt	rs138043021(G;G) rs138043021(T;T)
Reference	Rs138043021(C;C)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 BBS2-Related Disorders
Variation	info
Gene	BBS2
CLNDBN	Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 BBS2-Related Disorders
Reversed	0
HGVS	NC_000016.9:g.56530894C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004840.6, RCV000190986.4, RCV000380902.1,