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rs398122992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGGTCTAATCAAATTAAAA;AGGTCTAATCAAATTAAAA) 0 common in clinvar
Make rs398122992(-;-)
Make rs398122992(-;AGGTCTAATCAAATTAAAA)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position73572990
GeneALMS1
is asnp
is mentioned by
dbSNPrs398122992
dbSNP (old)rs398122992
ClinGenrs398122992
ebirs398122992
HLIrs398122992
Exacrs398122992
Varsomers398122992
Maprs398122992
PheGenIrs398122992
Biobankrs398122992
1000 genomesrs398122992
hgdprs398122992
ensemblrs398122992
gopubmedrs398122992
geneviewrs398122992
scholarrs398122992
googlers398122992
pharmgkbrs398122992
gwascentralrs398122992
openSNPrs398122992
23andMers398122992
23andMe allrs398122992
SNP Nexus

SNPshotrs398122992
SNPdbers398122992
MSV3drs398122992
GWAS Ctlgrs398122992
Max Magnitude0
ClinVar
Risk rs398122992(-;-)
Alt rs398122992(-;-)
Reference Rs398122992(AGGTCTAATCAAATTAAAA;AGGTCTAATCAAATTAAAA)
Significance Pathogenic
Disease not provided Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN not provided Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73800117_73800135del19
CLNSRC
CLNACC RCV000077807.1, RCV000210462.1,