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rs121908318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908318(C;C)
Make rs121908318(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142742343
GeneSLURP1
is asnp
is mentioned by
dbSNPrs121908318
ebirs121908318
HLIrs121908318
Exacrs121908318
Varsomers121908318
Maprs121908318
PheGenIrs121908318
hapmaprs121908318
1000 genomesrs121908318
hgdprs121908318
ensemblrs121908318
gopubmedrs121908318
geneviewrs121908318
scholarrs121908318
googlers121908318
pharmgkbrs121908318
gwascentralrs121908318
openSNPrs121908318
23andMers121908318
23andMe allrs121908318
SNP Nexus

SNPshotrs121908318
SNPdbers121908318
MSV3drs121908318
GWAS Ctlgrs121908318
Max Magnitude0
OMIM606119
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908318(C;C)
Alt rs121908318(C;C)
Reference rs121908318(T;T)
Significance Pathogenic
Disease Acroerythrokeratoderma
Variation info
Gene SLURP1
CLNDBN Acroerythrokeratoderma
Reversed 1
HGVS NC_000008.10:g.143823761A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004868.2,