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rs587777306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777306(C;C)
Make rs587777306(C;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position21882486
GeneMBTPS2
is asnp
is mentioned by
dbSNPrs587777306
ClinGenrs587777306
ebirs587777306
HLIrs587777306
Exacrs587777306
Varsomers587777306
Maprs587777306
PheGenIrs587777306
hapmaprs587777306
1000 genomesrs587777306
hgdprs587777306
ensemblrs587777306
gopubmedrs587777306
geneviewrs587777306
scholarrs587777306
googlers587777306
pharmgkbrs587777306
gwascentralrs587777306
openSNPrs587777306
23andMers587777306
23andMe allrs587777306
SNP Nexus

SNPshotrs587777306
SNPdbers587777306
MSV3drs587777306
GWAS Ctlgrs587777306
Max Magnitude0
ClinVar
Risk rs587777306(C;C)
Alt rs587777306(C;C)
Reference Rs587777306(T;T)
Significance Pathogenic
Disease Palmoplantar keratoderma
Variation info
Gene MBTPS2
CLNDBN Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
Reversed 0
HGVS NC_000023.10:g.21900604T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000114759.2,