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rs80338795

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338795(A;G)
Make rs80338795(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position73641810
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs80338795
ebirs80338795
HLIrs80338795
Exacrs80338795
Varsomers80338795
Maprs80338795
PheGenIrs80338795
hapmaprs80338795
1000 genomesrs80338795
hgdprs80338795
ensemblrs80338795
gopubmedrs80338795
geneviewrs80338795
scholarrs80338795
googlers80338795
pharmgkbrs80338795
gwascentralrs80338795
openSNPrs80338795
23andMers80338795
23andMe allrs80338795
SNP Nexus

SNPshotrs80338795
SNPdbers80338795
MSV3drs80338795
GWAS Ctlgrs80338795
GMAF0.0004591
Max Magnitude0
OMIM604322
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80338795(G,T;G,T)
Alt rs80338795(G,T;G,T)
Reference rs80338795(A;A)
Significance Other
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74351533T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000020682.5,


[PMID 16170568] Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.