rs113994178

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG;AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG)	0	common in clinvar
(CGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTC;CGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTC)	0	common in clinvar
(I;I)	0	common genotype

Make rs113994178(-;-)

Make rs113994178(-;AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66510657

Gene

BBS1

is a	snp
is	mentioned by
dbSNP	rs113994178
dbSNP (classic)	rs113994178
ClinGen	rs113994178
ebi	rs113994178
HLI	rs113994178
Exac	rs113994178
Gnomad	rs113994178
Varsome	rs113994178
LitVar	rs113994178
Map	rs113994178
PheGenI	rs113994178
Biobank	rs113994178
1000 genomes	rs113994178
hgdp	rs113994178
ensembl	rs113994178
geneview	rs113994178
scholar	rs113994178
google	rs113994178
pharmgkb	rs113994178
gwascentral	rs113994178
openSNP	rs113994178
23andMe	rs113994178
SNPshot	rs113994178
SNPdbe	rs113994178
MSV3d	rs113994178
GWAS Ctlg	rs113994178

Max Magnitude

0

ClinVar
Risk	rs113994178(-;-)
Alt	rs113994178(-;-)
Reference	Rs113994178(CGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTC;CGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTC)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome
Variation	info
Gene	BBS1
CLNDBN	Bardet-Biedl syndrome
Reversed	0
HGVS	NC_000011.9:g.66278128_66278167del40
CLNSRC	GeneReviews
CLNACC	RCV000020906.2,

[PMID 12524598] Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).