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rs387906333

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTAAACAAG;GTAAACAAG) 0 common in clinvar
Make rs387906333(-;-)
Make rs387906333(-;GTAAACAAG)
ReferenceGRCh38 38.1/141
Chromosome7
Position122098496
GeneAASS
is asnp
is mentioned by
dbSNPrs387906333
ebirs387906333
HLIrs387906333
Exacrs387906333
Varsomers387906333
Maprs387906333
PheGenIrs387906333
hapmaprs387906333
1000 genomesrs387906333
hgdprs387906333
ensemblrs387906333
gopubmedrs387906333
geneviewrs387906333
scholarrs387906333
googlers387906333
pharmgkbrs387906333
gwascentralrs387906333
openSNPrs387906333
23andMers387906333
23andMe allrs387906333
SNP Nexus

SNPshotrs387906333
SNPdbers387906333
MSV3drs387906333
GWAS Ctlgrs387906333
Max Magnitude0
ClinVar
Risk rs387906333(;)
Alt rs387906333(;)
Reference rs387906333(GTAAACAAG;GTAAACAAG)
Significance Pathogenic
Disease Hyperlysinemia
Variation info
Gene AASS
CLNDBN Hyperlysinemia
Reversed 1
HGVS NC_000007.13:g.121738550_121738558delCTTGTTTAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005519.3,