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rs1426310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 0
Make rs1426310(A;A)
Make rs1426310(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31318331
GeneDSG1
is asnp
is mentioned by
dbSNPrs1426310
ebirs1426310
HLIrs1426310
Exacrs1426310
Varsomers1426310
Maprs1426310
PheGenIrs1426310
hapmaprs1426310
1000 genomesrs1426310
hgdprs1426310
ensemblrs1426310
gopubmedrs1426310
geneviewrs1426310
scholarrs1426310
googlers1426310
pharmgkbrs1426310
gwascentralrs1426310
openSNPrs1426310
23andMers1426310
23andMe allrs1426310
SNP Nexus

SNPshotrs1426310
SNPdbers1426310
MSV3drs1426310
GWAS Ctlgrs1426310
GMAF0.3457
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene DSG1
allele G
frequency 0.492
sift TOLERATED
HuRef 1103645166626
Disease Association Defects in DSG1 are the cause of keratosis palmoplantaris striata I (PPKS1) (MIM:148700); also known as striate palmoplantar keratoderma I (SPPK1). PPKS1 is an autosomal dominant disease characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger.



GET Evidence
DSG1-M11V
aa_change Met11Val
aa_change_short M11V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.478992
summary