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rs1085307054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome2
Position73450308
GeneALMS1
is asnp
is mentioned by
dbSNPrs1085307054
dbSNP (old)rs1085307054
ClinGenrs1085307054
ebirs1085307054
HLIrs1085307054
Exacrs1085307054
Gnomadrs1085307054
Varsomers1085307054
Maprs1085307054
PheGenIrs1085307054
Biobankrs1085307054
1000 genomesrs1085307054
hgdprs1085307054
ensemblrs1085307054
gopubmedrs1085307054
geneviewrs1085307054
scholarrs1085307054
googlers1085307054
pharmgkbrs1085307054
gwascentralrs1085307054
openSNPrs1085307054
23andMers1085307054
23andMe allrs1085307054
SNPshotrs1085307054
SNPdbers1085307054
MSV3drs1085307054
GWAS Ctlgrs1085307054
Max Magnitude0
ClinVar
Risk rs1085307054(T;T)
Alt rs1085307054(T;T)
Reference Rs1085307054(G;G)
Significance Probable-Pathogenic
Disease Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73677435G>T
CLNSRC
CLNACC RCV000490468.1,