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rs398122991

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398122991(-;-)
Make rs398122991(-;GGCTTTGA)
Make rs398122991(GGCTTTGA;GGCTTTGA)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position73448325
GeneALMS1
is asnp
is mentioned by
dbSNPrs398122991
ebirs398122991
HLIrs398122991
Exacrs398122991
Varsomers398122991
Maprs398122991
PheGenIrs398122991
hapmaprs398122991
1000 genomesrs398122991
hgdprs398122991
ensemblrs398122991
gopubmedrs398122991
geneviewrs398122991
scholarrs398122991
googlers398122991
pharmgkbrs398122991
gwascentralrs398122991
openSNPrs398122991
23andMers398122991
23andMe allrs398122991
SNP Nexus

SNPshotrs398122991
SNPdbers398122991
MSV3drs398122991
GWAS Ctlgrs398122991
Max Magnitude0
ClinVar
Risk rs398122991(GAGGCTTT;GAGGCTTT)
Alt rs398122991(GAGGCTTT;GAGGCTTT)
Reference rs398122991(;)
Significance Pathogenic
Disease not provided Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN not provided Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73675445_73675452dupGGCTTTGA
CLNSRC
CLNACC RCV000077806.1, RCV000210448.1,