rs113994192

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in complete genomics

Make rs113994192(A;G)

Make rs113994192(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

72712242

Gene

BBS4

is a	snp
is	mentioned by
dbSNP	rs113994192
dbSNP (classic)	rs113994192
ClinGen	rs113994192
ebi	rs113994192
HLI	rs113994192
Exac	rs113994192
Gnomad	rs113994192
Varsome	rs113994192
LitVar	rs113994192
Map	rs113994192
PheGenI	rs113994192
Biobank	rs113994192
1000 genomes	rs113994192
hgdp	rs113994192
ensembl	rs113994192
geneview	rs113994192
scholar	rs113994192
google	rs113994192
pharmgkb	rs113994192
gwascentral	rs113994192
openSNP	rs113994192
23andMe	rs113994192
SNPshot	rs113994192
SNPdbe	rs113994192
MSV3d	rs113994192
GWAS Ctlg	rs113994192

Max Magnitude

0

OMIM	600374
Desc
Variant	0003
Related	also

[PMID 11567139] Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

[PMID 12016587] BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

ClinVar
Risk	rs113994192(G;G)
Alt	rs113994192(G;G)
Reference	Rs113994192(A;A)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 4 Bardet-Biedl syndrome
Variation	info
Gene	BBS4
CLNDBN	Bardet-Biedl syndrome 4 Bardet-Biedl syndrome
Reversed	0
HGVS	NC_000015.9:g.73004583A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009718.3, RCV000020932.1,