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rs193919339

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193919339(A;A)
Make rs193919339(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position73572866
GeneALMS1
is asnp
is mentioned by
dbSNPrs193919339
ebirs193919339
HLIrs193919339
Exacrs193919339
Varsomers193919339
Maprs193919339
PheGenIrs193919339
hapmaprs193919339
1000 genomesrs193919339
hgdprs193919339
ensemblrs193919339
gopubmedrs193919339
geneviewrs193919339
scholarrs193919339
googlers193919339
pharmgkbrs193919339
gwascentralrs193919339
openSNPrs193919339
23andMers193919339
23andMe allrs193919339
SNP Nexus

SNPshotrs193919339
SNPdbers193919339
MSV3drs193919339
GWAS Ctlgrs193919339
Max Magnitude0
ClinVar
Risk rs193919339(A;A)
Alt rs193919339(A;A)
Reference rs193919339(G;G)
Significance Pathogenic
Disease Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73799993G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004180.3,