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rs121908317

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908317(C;T)
Make rs121908317(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142741169
GeneSLURP1
is asnp
is mentioned by
dbSNPrs121908317
ebirs121908317
HLIrs121908317
Exacrs121908317
Varsomers121908317
Maprs121908317
PheGenIrs121908317
hapmaprs121908317
1000 genomesrs121908317
hgdprs121908317
ensemblrs121908317
gopubmedrs121908317
geneviewrs121908317
scholarrs121908317
googlers121908317
pharmgkbrs121908317
gwascentralrs121908317
openSNPrs121908317
23andMers121908317
23andMe allrs121908317
SNP Nexus

SNPshotrs121908317
SNPdbers121908317
MSV3drs121908317
GWAS Ctlgrs121908317
Max Magnitude0
OMIM606119
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908317(T;T)
Alt rs121908317(T;T)
Reference rs121908317(C;C)
Significance Pathogenic
Disease Acroerythrokeratoderma
Variation info
Gene SLURP1
CLNDBN Acroerythrokeratoderma
Reversed 1
HGVS NC_000008.10:g.143822587G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004864.2,