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rs398122994

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122994(-;-)
Make rs398122994(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position73452450
GeneALMS1
is asnp
is mentioned by
dbSNPrs398122994
ebirs398122994
HLIrs398122994
Exacrs398122994
Varsomers398122994
Maprs398122994
PheGenIrs398122994
hapmaprs398122994
1000 genomesrs398122994
hgdprs398122994
ensemblrs398122994
gopubmedrs398122994
geneviewrs398122994
scholarrs398122994
googlers398122994
pharmgkbrs398122994
gwascentralrs398122994
openSNPrs398122994
23andMers398122994
23andMe allrs398122994
SNP Nexus

SNPshotrs398122994
SNPdbers398122994
MSV3drs398122994
GWAS Ctlgrs398122994
Max Magnitude0
ClinVar
Risk rs398122994(;)
Alt rs398122994(;)
Reference rs398122994(G;G)
Significance Pathogenic
Disease not provided Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN not provided Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73679577delG
CLNSRC
CLNACC RCV000077809.1, RCV000210449.1,