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rs1057517445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517445(-;-)
Make rs1057517445(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position73452149
GeneALMS1
is asnp
is mentioned by
dbSNPrs1057517445
dbSNP (old)rs1057517445
ClinGenrs1057517445
ebirs1057517445
HLIrs1057517445
Exacrs1057517445
Gnomadrs1057517445
Varsomers1057517445
Maprs1057517445
PheGenIrs1057517445
Biobankrs1057517445
1000 genomesrs1057517445
hgdprs1057517445
ensemblrs1057517445
gopubmedrs1057517445
geneviewrs1057517445
scholarrs1057517445
googlers1057517445
pharmgkbrs1057517445
gwascentralrs1057517445
openSNPrs1057517445
23andMers1057517445
23andMe allrs1057517445
SNPshotrs1057517445
SNPdbers1057517445
MSV3drs1057517445
GWAS Ctlgrs1057517445
Max Magnitude0
ClinVar
Risk rs1057517445(-;-)
Alt rs1057517445(-;-)
Reference Rs1057517445(A;A)
Significance Probable-Pathogenic
Disease Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73679276delA
CLNSRC
CLNACC RCV000409996.1,