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rs587777121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTTAC;CTTAC) 0 common in clinvar
(GTAAGT;GTAAGT) 0 common in clinvar
Make rs587777121(AA;AA)
Make rs587777121(AA;CTTAC)
ReferenceGRCh38 38.1/142
Chromosome7
Position122077833
GeneAASS
is asnp
is mentioned by
dbSNPrs587777121
ebirs587777121
HLIrs587777121
Exacrs587777121
Varsomers587777121
Maprs587777121
PheGenIrs587777121
hapmaprs587777121
1000 genomesrs587777121
hgdprs587777121
ensemblrs587777121
gopubmedrs587777121
geneviewrs587777121
scholarrs587777121
googlers587777121
pharmgkbrs587777121
gwascentralrs587777121
openSNPrs587777121
23andMers587777121
23andMe allrs587777121
SNP Nexus

SNPshotrs587777121
SNPdbers587777121
MSV3drs587777121
GWAS Ctlgrs587777121
Max Magnitude0
ClinVar
Risk rs587777121(AAT,CTTACT;AAT,CTTACT)
Alt rs587777121(AAT,CTTACT;AAT,CTTACT)
Reference rs587777121(GTAAGT;GTAAGT)
Significance Pathogenic
Disease Hyperlysinemia
Variation info
Gene AASS
CLNDBN Hyperlysinemia
Reversed 1
HGVS NC_000007.13:g.121717887_121717891delCTTACinsAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000087042.3,