{{Rsnum
|rsid=3752095
|Gene=DSG1
|Chromosome=18
|position=31354718
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.1166
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=DSG1,RP11-534N16.1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 70.8 | 27.7 | 1.5
| HCB | 82.2 | 15.6 | 2.2
| JPT | 81.8 | 15.9 | 2.3
| YRI | 71.4 | 23.8 | 4.8
| ASW | 0.0 | 0.0 | 0.0
| CHB | 82.2 | 15.6 | 2.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=3752095
|allele=T
|frequency=0.158
|uid=1103645166679
|type=heterozygous_SNP
|hugo=DSG1
|ensembl gene=ENSG00000134760
|ensembl transcript=ENST00000257192
|sift=AFFECT FUNCTION
|disease=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
|gene=DSG1
|aa_change=Tyr841Phe
|aa_change_short=Y841F
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3752095
|overall_frequency_n=1476
|overall_frequency_d=10758
|overall_frequency=0.1372
|n_genomes=9
|n_genomes_annotated=0
|n_haplomes=9
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.994
|nblosum100=-4
|autoscore=1
|webscore=N
}}
{{on chip | HumanOmni1Quad}}