rs549625604

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;A)	3	Carrier of a Bardet-Biedl syndrome mutation

Make rs549625604(A;A)

Reference

GRCh38 38.1/142

Chromosome

12

Position

76347713

Gene

BBS10

is a	snp
is	mentioned by
dbSNP	rs549625604
dbSNP (classic)	rs549625604
ClinGen	rs549625604
ebi	rs549625604
HLI	rs549625604
Exac	rs549625604
Gnomad	rs549625604
Varsome	rs549625604
LitVar	rs549625604
Map	rs549625604
PheGenI	rs549625604
Biobank	rs549625604
1000 genomes	rs549625604
hgdp	rs549625604
ensembl	rs549625604
geneview	rs549625604
scholar	rs549625604
google	rs549625604
pharmgkb	rs549625604
gwascentral	rs549625604
openSNP	rs549625604
23andMe	rs549625604
SNPshot	rs549625604
SNPdbe	rs549625604
MSV3d	rs549625604
GWAS Ctlg	rs549625604

Max Magnitude

3

BBS10 c.271dupT

In at least one study, this variant was found to be most common BBS10 gene mutation associated with Bardet-Biedl syndrome in Europeans.[PMID 16582908]

ClinVar
Risk	rs549625604(A;A)
Alt	rs549625604(A;A)
Reference	Rs549625604(-;-)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 10 Bardet-biedl syndrome 6/10 Bardet-Biedl syndrome not provided
Variation	info
Gene	BBS10
CLNDBN	Bardet-Biedl syndrome 10 Bardet-biedl syndrome 6/10, digenic Bardet-Biedl syndrome not provided
Reversed	0
HGVS	NC_000012.11:g.76741494dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001391.6, RCV000144680.5, RCV000168127.8, RCV000487323.1,