rs113994191

Orientation

plus

Stabilized

plus

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

Make rs113994191(A;C)

Make rs113994191(C;C)

Reference

GRCh38 38.1/142

Chromosome

15

Position

72722792

Gene

BBS4

is a	snp
is	mentioned by
dbSNP	rs113994191
dbSNP (classic)	rs113994191
ClinGen	rs113994191
ebi	rs113994191
HLI	rs113994191
Exac	rs113994191
Gnomad	rs113994191
Varsome	rs113994191
LitVar	rs113994191
Map	rs113994191
PheGenI	rs113994191
Biobank	rs113994191
1000 genomes	rs113994191
hgdp	rs113994191
ensembl	rs113994191
geneview	rs113994191
scholar	rs113994191
google	rs113994191
pharmgkb	rs113994191
gwascentral	rs113994191
openSNP	rs113994191
23andMe	rs113994191
SNPshot	rs113994191
SNPdbe	rs113994191
MSV3d	rs113994191
GWAS Ctlg	rs113994191

Max Magnitude

0

ClinVar
Risk	rs113994191(C;C) rs113994191(G;G)
Alt	rs113994191(C;C) rs113994191(G;G)
Reference	Rs113994191(A;A)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome Bardet-Biedl syndrome 4
Variation	info
Gene	BBS4
CLNDBN	Bardet-Biedl syndrome Bardet-Biedl syndrome 4
Reversed	0
HGVS	NC_000015.9:g.73015133A>C; NC_000015.9:g.73015133A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020934.1, RCV000207846.1,