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rs3752095

From SNPedia

Orientationplus
Stabilizedplus
Make rs3752095(A;A)
Make rs3752095(A;T)
Make rs3752095(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31354718
GeneDSG1, RP11-534N16.1
is asnp
is mentioned by
dbSNPrs3752095
ebirs3752095
HLIrs3752095
Exacrs3752095
Varsomers3752095
Maprs3752095
PheGenIrs3752095
hapmaprs3752095
1000 genomesrs3752095
hgdprs3752095
ensemblrs3752095
gopubmedrs3752095
geneviewrs3752095
scholarrs3752095
googlers3752095
pharmgkbrs3752095
gwascentralrs3752095
openSNPrs3752095
23andMers3752095
23andMe allrs3752095
SNP Nexus

SNPshotrs3752095
SNPdbers3752095
MSV3drs3752095
GWAS Ctlgrs3752095
GMAF0.1166
Max Magnitude
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene DSG1
allele T
frequency 0.158
sift AFFECT FUNCTION
HuRef 1103645166679
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-Y841F
aa_change Tyr841Phe
aa_change_short Y841F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.1372
summary