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rs539612316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs539612316(A;A)
Make rs539612316(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position73449346
GeneALMS1
is asnp
is mentioned by
dbSNPrs539612316
dbSNP (classic)rs539612316
ClinGenrs539612316
ebirs539612316
HLIrs539612316
Exacrs539612316
Gnomadrs539612316
Varsomers539612316
LitVarrs539612316
Maprs539612316
PheGenIrs539612316
Biobankrs539612316
1000 genomesrs539612316
hgdprs539612316
ensemblrs539612316
geneviewrs539612316
scholarrs539612316
googlers539612316
pharmgkbrs539612316
gwascentralrs539612316
openSNPrs539612316
23andMers539612316
SNPshotrs539612316
SNPdbers539612316
MSV3drs539612316
GWAS Ctlgrs539612316
Max Magnitude0
ClinVar
Risk rs539612316(A;A)
Alt rs539612316(A;A)
Reference Rs539612316(T;T)
Significance Pathogenic
Disease Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73676473T>A
CLNSRC
CLNACC RCV000210366.1,