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rs193919340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193919340(C;T)
Make rs193919340(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position73490120
GeneALMS1
is asnp
is mentioned by
dbSNPrs193919340
ebirs193919340
HLIrs193919340
Exacrs193919340
Varsomers193919340
Maprs193919340
PheGenIrs193919340
hapmaprs193919340
1000 genomesrs193919340
hgdprs193919340
ensemblrs193919340
gopubmedrs193919340
geneviewrs193919340
scholarrs193919340
googlers193919340
pharmgkbrs193919340
gwascentralrs193919340
openSNPrs193919340
23andMers193919340
23andMe allrs193919340
SNP Nexus

SNPshotrs193919340
SNPdbers193919340
MSV3drs193919340
GWAS Ctlgrs193919340
Max Magnitude0
ClinVar
Risk rs193919340(T;T)
Alt rs193919340(T;T)
Reference rs193919340(C;C)
Significance Pathogenic
Disease Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73717247C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004181.3,