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rs121908319

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908319(C;C)
Make rs121908319(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142741226
GeneSLURP1
is asnp
is mentioned by
dbSNPrs121908319
ebirs121908319
HLIrs121908319
Exacrs121908319
Varsomers121908319
Maprs121908319
PheGenIrs121908319
hapmaprs121908319
1000 genomesrs121908319
hgdprs121908319
ensemblrs121908319
gopubmedrs121908319
geneviewrs121908319
scholarrs121908319
googlers121908319
pharmgkbrs121908319
gwascentralrs121908319
openSNPrs121908319
23andMers121908319
23andMe allrs121908319
SNP Nexus

SNPshotrs121908319
SNPdbers121908319
MSV3drs121908319
GWAS Ctlgrs121908319
Max Magnitude0
OMIM606119
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908319(C;C)
Alt rs121908319(C;C)
Reference rs121908319(T;T)
Significance Pathogenic
Disease Acroerythrokeratoderma
Variation info
Gene SLURP1
CLNDBN Acroerythrokeratoderma
Reversed 1
HGVS NC_000008.10:g.143822644A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004869.3,