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rs104893680

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893680(C;T)
Make rs104893680(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position97768199
GeneARL6
is asnp
is mentioned by
dbSNPrs104893680
dbSNP (classic)rs104893680
ClinGenrs104893680
ebirs104893680
HLIrs104893680
Exacrs104893680
Gnomadrs104893680
Varsomers104893680
LitVarrs104893680
Maprs104893680
PheGenIrs104893680
Biobankrs104893680
1000 genomesrs104893680
hgdprs104893680
ensemblrs104893680
geneviewrs104893680
scholarrs104893680
googlers104893680
pharmgkbrs104893680
gwascentralrs104893680
openSNPrs104893680
23andMers104893680
SNPshotrs104893680
SNPdbers104893680
MSV3drs104893680
GWAS Ctlgrs104893680
Max Magnitude0
OMIM608845
Desc
Variant0005
Relatedalso
OMIM608845
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893680(G;G) rs104893680(T;T)
Alt rs104893680(G;G) rs104893680(T;T)
Reference Rs104893680(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome 3
Variation info
Gene ARL6 LOC101929298
CLNDBN Bardet-Biedl syndrome 3
Reversed 0
HGVS NC_000003.11:g.97487043C>G; NC_000003.11:g.97487043C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002125.3, RCV000002123.3,