rs113994180

Orientation

plus

Stabilized

plus

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

Make rs113994180(A;G)

Make rs113994180(G;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

66529817

Gene	BBS1, ZDHHC24

is a	snp
is	mentioned by
dbSNP	rs113994180
dbSNP (classic)	rs113994180
ClinGen	rs113994180
ebi	rs113994180
HLI	rs113994180
Exac	rs113994180
Gnomad	rs113994180
Varsome	rs113994180
LitVar	rs113994180
Map	rs113994180
PheGenI	rs113994180
Biobank	rs113994180
1000 genomes	rs113994180
hgdp	rs113994180
ensembl	rs113994180
geneview	rs113994180
scholar	rs113994180
google	rs113994180
pharmgkb	rs113994180
gwascentral	rs113994180
openSNP	rs113994180
23andMe	rs113994180
SNPshot	rs113994180
SNPdbe	rs113994180
MSV3d	rs113994180
GWAS Ctlg	rs113994180

Max Magnitude

0

ClinVar
Risk	rs113994180(G;G)
Alt	rs113994180(G;G)
Reference	Rs113994180(A;A)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome
Variation	info
Gene	BBS1 ZDHHC24
CLNDBN	Bardet-Biedl syndrome
Reversed	0
HGVS	NC_000011.9:g.66297288A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020904.1,