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rs549625604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs549625604(-;-)
Make rs549625604(-;A)
Make rs549625604(A;A)
ReferenceGRCh38 38.1/142
Chromosome12
Position76347713
GeneBBS10
is asnp
is mentioned by
dbSNPrs549625604
ebirs549625604
HLIrs549625604
Exacrs549625604
Varsomers549625604
Maprs549625604
PheGenIrs549625604
hapmaprs549625604
1000 genomesrs549625604
hgdprs549625604
ensemblrs549625604
gopubmedrs549625604
geneviewrs549625604
scholarrs549625604
googlers549625604
pharmgkbrs549625604
gwascentralrs549625604
openSNPrs549625604
23andMers549625604
23andMe allrs549625604
SNP Nexus

SNPshotrs549625604
SNPdbers549625604
MSV3drs549625604
GWAS Ctlgrs549625604
Max Magnitude0
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
Variation info
Gene BBS10
CLNDBN Bardet-Biedl syndrome 10 Bardet-biedl syndrome 6/10, digenic Bardet-Biedl syndrome
Reversed 0
HGVS NC_000012.11:g.76741494dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001391.5, RCV000144680.5, RCV000168127.6,