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rs387906313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs387906313(-;-)
Make rs387906313(-;CT)
ReferenceGRCh38 38.1/141
Chromosome2
Position73448665
GeneALMS1
is asnp
is mentioned by
dbSNPrs387906313
ebirs387906313
HLIrs387906313
Exacrs387906313
Varsomers387906313
Maprs387906313
PheGenIrs387906313
hapmaprs387906313
1000 genomesrs387906313
hgdprs387906313
ensemblrs387906313
gopubmedrs387906313
geneviewrs387906313
scholarrs387906313
googlers387906313
pharmgkbrs387906313
gwascentralrs387906313
openSNPrs387906313
23andMers387906313
23andMe allrs387906313
SNP Nexus

SNPshotrs387906313
SNPdbers387906313
MSV3drs387906313
GWAS Ctlgrs387906313
Max Magnitude0
ClinVar
Risk rs387906313(;)
Alt rs387906313(;)
Reference rs387906313(CT;CT)
Significance Pathogenic
Disease Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73675792_73675793delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004178.3,