rs28938468

Orientation

plus

Stabilized

plus

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

Make rs28938468(A;A)

Make rs28938468(A;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

72735167

Gene

BBS4

is a	snp
is	mentioned by
dbSNP	rs28938468
dbSNP (classic)	rs28938468
ClinGen	rs28938468
ebi	rs28938468
HLI	rs28938468
Exac	rs28938468
Gnomad	rs28938468
Varsome	rs28938468
LitVar	rs28938468
Map	rs28938468
PheGenI	rs28938468
Biobank	rs28938468
1000 genomes	rs28938468
hgdp	rs28938468
ensembl	rs28938468
geneview	rs28938468
scholar	rs28938468
google	rs28938468
pharmgkb	rs28938468
gwascentral	rs28938468
openSNP	rs28938468
23andMe	rs28938468
SNPshot	rs28938468
SNPdbe	rs28938468
MSV3d	rs28938468
GWAS Ctlg	rs28938468

Max Magnitude

0

OMIM	600374
Desc	BARDET-BIEDL SYNDROME 4
Variant	0004
Related	also

ClinVar
Risk	rs28938468(A;A)
Alt	rs28938468(A;A)
Reference	Rs28938468(C;C)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 4
Variation	info
Gene	BBS4
CLNDBN	Bardet-Biedl syndrome 4
Reversed	0
HGVS	NC_000015.9:g.73027508C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009719.3,