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rs387906312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906312(-;-)
Make rs387906312(-;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position73572649
GeneALMS1
is asnp
is mentioned by
dbSNPrs387906312
ebirs387906312
HLIrs387906312
Exacrs387906312
Varsomers387906312
Maprs387906312
PheGenIrs387906312
hapmaprs387906312
1000 genomesrs387906312
hgdprs387906312
ensemblrs387906312
gopubmedrs387906312
geneviewrs387906312
scholarrs387906312
googlers387906312
pharmgkbrs387906312
gwascentralrs387906312
openSNPrs387906312
23andMers387906312
23andMe allrs387906312
SNP Nexus

SNPshotrs387906312
SNPdbers387906312
MSV3drs387906312
GWAS Ctlgrs387906312
Max Magnitude0
ClinVar
Risk rs387906312(;)
Alt rs387906312(;)
Reference rs387906312(C;C)
Significance Pathogenic
Disease Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73799776delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004177.4,