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rs1060500034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500034(C;GA)
Make rs1060500034(GA;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position73559058
GeneALMS1
is asnp
is mentioned by
dbSNPrs1060500034
dbSNP (old)rs1060500034
ClinGenrs1060500034
ebirs1060500034
HLIrs1060500034
Exacrs1060500034
Gnomadrs1060500034
Varsomers1060500034
Maprs1060500034
PheGenIrs1060500034
Biobankrs1060500034
1000 genomesrs1060500034
hgdprs1060500034
ensemblrs1060500034
gopubmedrs1060500034
geneviewrs1060500034
scholarrs1060500034
googlers1060500034
pharmgkbrs1060500034
gwascentralrs1060500034
openSNPrs1060500034
23andMers1060500034
23andMe allrs1060500034
SNPshotrs1060500034
SNPdbers1060500034
MSV3drs1060500034
GWAS Ctlgrs1060500034
Max Magnitude0
ClinVar
Risk rs1060500034(GA;GA)
Alt rs1060500034(GA;GA)
Reference Rs1060500034(C;C)
Significance Pathogenic
Disease Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73786185delCinsGA
CLNSRC
CLNACC RCV000459403.1,