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rs28937889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28937889(A;C)
Make rs28937889(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position142742385
GeneSLURP1
is asnp
is mentioned by
dbSNPrs28937889
ebirs28937889
HLIrs28937889
Exacrs28937889
Varsomers28937889
Maprs28937889
PheGenIrs28937889
hapmaprs28937889
1000 genomesrs28937889
hgdprs28937889
ensemblrs28937889
gopubmedrs28937889
geneviewrs28937889
scholarrs28937889
googlers28937889
pharmgkbrs28937889
gwascentralrs28937889
openSNPrs28937889
23andMers28937889
23andMe allrs28937889
SNP Nexus

SNPshotrs28937889
SNPdbers28937889
MSV3drs28937889
GWAS Ctlgrs28937889
Max Magnitude0
OMIM606119
DescMAL DE MELEDA
Variant0006
Relatedalso
Neighborrs28937888
Distance1186


ClinVar
Risk rs28937889(C;C)
Alt rs28937889(C;C)
Reference rs28937889(A;A)
Significance Pathogenic
Disease Acroerythrokeratoderma
Variation info
Gene SLURP1
CLNDBN Acroerythrokeratoderma
Reversed 1
HGVS NC_000008.10:g.143823803T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004867.3,