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rs398122995

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122995(C;T)
Make rs398122995(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position73448424
GeneALMS1
is asnp
is mentioned by
dbSNPrs398122995
ebirs398122995
HLIrs398122995
Exacrs398122995
Varsomers398122995
Maprs398122995
PheGenIrs398122995
hapmaprs398122995
1000 genomesrs398122995
hgdprs398122995
ensemblrs398122995
gopubmedrs398122995
geneviewrs398122995
scholarrs398122995
googlers398122995
pharmgkbrs398122995
gwascentralrs398122995
openSNPrs398122995
23andMers398122995
23andMe allrs398122995
SNP Nexus

SNPshotrs398122995
SNPdbers398122995
MSV3drs398122995
GWAS Ctlgrs398122995
Max Magnitude0
ClinVar
Risk rs398122995(T;T)
Alt rs398122995(T;T)
Reference rs398122995(C;C)
Significance Pathogenic
Disease not provided Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN not provided Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73675551C>T
CLNSRC
CLNACC RCV000077846.1, RCV000210460.1,