Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs868438023
rs868438023
Entrez Id: 90417
Gene Symbol: KNSTRN
KNSTRN
CUI: C0553723
Disease:
Squamous cell carcinoma of skin 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs868438023
rs868438023
Entrez Id: 90417
Gene Symbol: KNSTRN
KNSTRN
CUI: C0151779
Disease:
Cutaneous Melanoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs7164132
rs7164132
Entrez Id: 90417
Gene Symbol: KNSTRN
KNSTRN
CUI: C0022602
Disease:
Actinic keratosis 		0.010 GeneticVariation BEFREE Recurrent somatic mutation p.Ala40Glu in KNSTRN gene is associated with basal proliferating AKs in accordance with invasive SCCs. 30972880 2019
dbSNP: rs7164132
rs7164132
Entrez Id: 90417
Gene Symbol: KNSTRN
KNSTRN
CUI: C0553723
Disease:
Squamous cell carcinoma of skin 		0.010 GeneticVariation BEFREE Recurrent somatic mutation p.Ala40Glu in KNSTRN gene is associated with basal proliferating AKs in accordance with invasive SCCs. 30972880 2019
dbSNP: rs868438023
rs868438023
Entrez Id: 90417
Gene Symbol: KNSTRN
KNSTRN
CUI: C0007137
Disease:
Squamous cell carcinoma 		0.010 GeneticVariation BEFREE Cancer-associated KNSTRN mutations, most notably those encoding p.Ser24Phe, disrupt chromatid cohesion in normal cells, occur in SCC precursors, correlate with increased aneuploidy in primary tumors and enhance tumorigenesis in vivo. 25194279 2014
dbSNP: rs868438023
rs868438023
Entrez Id: 90417
Gene Symbol: KNSTRN
KNSTRN
CUI: C0596263
Disease:
Carcinogenesis 		0.010 GeneticVariation BEFREE Cancer-associated KNSTRN mutations, most notably those encoding p.Ser24Phe, disrupt chromatid cohesion in normal cells, occur in SCC precursors, correlate with increased aneuploidy in primary tumors and enhance tumorigenesis in vivo. 25194279 2014