rs113994190

Orientation

plus

Stabilized

plus

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

Make rs113994190(C;C)

Make rs113994190(C;G)

Reference

GRCh38 38.1/142

Chromosome

15

Position

72712308

Gene

BBS4

is a	snp
is	mentioned by
dbSNP	rs113994190
dbSNP (classic)	rs113994190
ClinGen	rs113994190
ebi	rs113994190
HLI	rs113994190
Exac	rs113994190
Gnomad	rs113994190
Varsome	rs113994190
LitVar	rs113994190
Map	rs113994190
PheGenI	rs113994190
Biobank	rs113994190
1000 genomes	rs113994190
hgdp	rs113994190
ensembl	rs113994190
geneview	rs113994190
scholar	rs113994190
google	rs113994190
pharmgkb	rs113994190
gwascentral	rs113994190
openSNP	rs113994190
23andMe	rs113994190
SNPshot	rs113994190
SNPdbe	rs113994190
MSV3d	rs113994190
GWAS Ctlg	rs113994190

Max Magnitude

0

ClinVar
Risk	rs113994190(C;C)
Alt	rs113994190(C;C)
Reference	Rs113994190(G;G)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome
Variation	info
Gene	BBS4
CLNDBN	Bardet-Biedl syndrome
Reversed	0
HGVS	NC_000015.9:g.73004649G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020933.1,