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rs398122993

From SNPedia

Orientationplus
Geno Mag Summary
(CACA;CACA) 0 common in clinvar
Make rs398122993(-;-)
Make rs398122993(-;CACA)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position73450820
GeneALMS1
is asnp
is mentioned by
dbSNPrs398122993
ebirs398122993
HLIrs398122993
Exacrs398122993
Varsomers398122993
Maprs398122993
PheGenIrs398122993
hapmaprs398122993
1000 genomesrs398122993
hgdprs398122993
ensemblrs398122993
gopubmedrs398122993
geneviewrs398122993
scholarrs398122993
googlers398122993
pharmgkbrs398122993
gwascentralrs398122993
openSNPrs398122993
23andMers398122993
23andMe allrs398122993
SNP Nexus

SNPshotrs398122993
SNPdbers398122993
MSV3drs398122993
GWAS Ctlgrs398122993
Max Magnitude0
ClinVar
Risk rs398122993(;)
Alt rs398122993(;)
Reference rs398122993(CACA;CACA)
Significance Pathogenic
Disease not provided Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN not provided Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73677947_73677950delCACA
CLNSRC
CLNACC RCV000077808.1, RCV000210469.1,