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rs193919338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193919338(C;T)
Make rs193919338(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position73490339
GeneALMS1
is asnp
is mentioned by
dbSNPrs193919338
ebirs193919338
HLIrs193919338
Exacrs193919338
Varsomers193919338
Maprs193919338
PheGenIrs193919338
hapmaprs193919338
1000 genomesrs193919338
hgdprs193919338
ensemblrs193919338
gopubmedrs193919338
geneviewrs193919338
scholarrs193919338
googlers193919338
pharmgkbrs193919338
gwascentralrs193919338
openSNPrs193919338
23andMers193919338
23andMe allrs193919338
SNP Nexus

SNPshotrs193919338
SNPdbers193919338
MSV3drs193919338
GWAS Ctlgrs193919338
Max Magnitude0
ClinVar
Risk rs193919338(T;T)
Alt rs193919338(T;T)
Reference rs193919338(C;C)
Significance Pathogenic
Disease Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73717466C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004176.3,