Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060500039

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500039(A;A)
Make rs1060500039(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position73453771
GeneALMS1
is asnp
is mentioned by
dbSNPrs1060500039
dbSNP (classic)rs1060500039
ClinGenrs1060500039
ebirs1060500039
HLIrs1060500039
Exacrs1060500039
Gnomadrs1060500039
Varsomers1060500039
LitVarrs1060500039
Maprs1060500039
PheGenIrs1060500039
Biobankrs1060500039
1000 genomesrs1060500039
hgdprs1060500039
ensemblrs1060500039
geneviewrs1060500039
scholarrs1060500039
googlers1060500039
pharmgkbrs1060500039
gwascentralrs1060500039
openSNPrs1060500039
23andMers1060500039
23andMe allrs1060500039
SNPshotrs1060500039
SNPdbers1060500039
MSV3drs1060500039
GWAS Ctlgrs1060500039
Max Magnitude0
ClinVar
Risk rs1060500039(A;A)
Alt rs1060500039(A;A)
Reference Rs1060500039(C;C)
Significance Pathogenic
Disease Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73680898C>A
CLNSRC
CLNACC RCV000472278.1,