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rs397514576

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514576(G;T)
Make rs397514576(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position73572819
GeneALMS1
is asnp
is mentioned by
dbSNPrs397514576
ebirs397514576
HLIrs397514576
Exacrs397514576
Varsomers397514576
Maprs397514576
PheGenIrs397514576
hapmaprs397514576
1000 genomesrs397514576
hgdprs397514576
ensemblrs397514576
gopubmedrs397514576
geneviewrs397514576
scholarrs397514576
googlers397514576
pharmgkbrs397514576
gwascentralrs397514576
openSNPrs397514576
23andMers397514576
23andMe allrs397514576
SNP Nexus

SNPshotrs397514576
SNPdbers397514576
MSV3drs397514576
GWAS Ctlgrs397514576
Max Magnitude0
ClinVar
Risk rs397514576(T;T)
Alt rs397514576(T;T)
Reference rs397514576(G;G)
Significance Pathogenic
Disease Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73799946G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032964.3,