rs878853352

Orientation

minus

Stabilized

minus

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

Make rs878853352(AGA;AGA)

Make rs878853352(AGA;CT)

Reference

GRCh38.p2 38.2/147

Chromosome

4

Position

121828692

Gene

BBS7

is a	snp
is	mentioned by
dbSNP	rs878853352
dbSNP (classic)	rs878853352
ClinGen	rs878853352
ebi	rs878853352
HLI	rs878853352
Exac	rs878853352
Gnomad	rs878853352
Varsome	rs878853352
LitVar	rs878853352
Map	rs878853352
PheGenI	rs878853352
Biobank	rs878853352
1000 genomes	rs878853352
hgdp	rs878853352
ensembl	rs878853352
geneview	rs878853352
scholar	rs878853352
google	rs878853352
pharmgkb	rs878853352
gwascentral	rs878853352
openSNP	rs878853352
23andMe	rs878853352
SNPshot	rs878853352
SNPdbe	rs878853352
MSV3d	rs878853352
GWAS Ctlg	rs878853352

Max Magnitude

0

ClinVar
Risk	rs878853352(AGA;AGA)
Alt	rs878853352(AGA;AGA)
Reference	Rs878853352(CT;CT)
Significance	Probable-Pathogenic
Disease	Retinal dystrophy
Variation	info
Gene	BBS7
CLNDBN	Retinal dystrophy
Reversed	1
HGVS	NC_000004.11:g.122749847_122749848delAGinsTCT
CLNSRC
CLNACC	RCV000225449.1,