rs747904021

Orientation

plus

Stabilized

plus

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

Make rs747904021(C;C)

Make rs747904021(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

122743596

Gene

BBS12

is a	snp
is	mentioned by
dbSNP	rs747904021
dbSNP (classic)	rs747904021
ClinGen	rs747904021
ebi	rs747904021
HLI	rs747904021
Exac	rs747904021
Gnomad	rs747904021
Varsome	rs747904021
LitVar	rs747904021
Map	rs747904021
PheGenI	rs747904021
Biobank	rs747904021
1000 genomes	rs747904021
hgdp	rs747904021
ensembl	rs747904021
geneview	rs747904021
scholar	rs747904021
google	rs747904021
pharmgkb	rs747904021
gwascentral	rs747904021
openSNP	rs747904021
23andMe	rs747904021
SNPshot	rs747904021
SNPdbe	rs747904021
MSV3d	rs747904021
GWAS Ctlg	rs747904021

Max Magnitude

0

ClinVar
Risk	rs747904021(A;A) rs747904021(C;C)
Alt	rs747904021(A;A) rs747904021(C;C)
Reference	Rs747904021(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.123664751G>A
CLNSRC
CLNACC	RCV000175982.1,