Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752941297
rs752941297
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		T 0.720 CausalMutation CLINVAR The c.891C>T synonymous transition in SPINK5 induces exon 11 (E11) skipping and causes Netherton syndrome (NS). 25665175 2015
dbSNP: rs752941297
rs752941297
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		0.720 GeneticVariation BEFREE The c.891C>T synonymous transition in SPINK5 induces exon 11 (E11) skipping and causes Netherton syndrome (NS). 25665175 2015
dbSNP: rs752941297
rs752941297
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		T 0.720 CausalMutation CLINVAR We identified a new and frequent synonymous mutation c.891C>T (p.Cys297Cys) in exon 11 of the 12 NS patients. 22089833 2012
dbSNP: rs752941297
rs752941297
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		T 0.720 CausalMutation CLINVAR We report the functional characterization of a previously unrecognized synonymous variant, c.891C>T (p.Cys297Cys), identified in the SPINK5 exon 11 of an NS patient. 22377713 2012
dbSNP: rs752941297
rs752941297
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		0.720 GeneticVariation BEFREE We identified a new and frequent synonymous mutation c.891C>T (p.Cys297Cys) in exon 11 of the 12 NS patients. 22089833 2012
dbSNP: rs121908387
rs121908387
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		0.710 GeneticVariation BEFREE DNA analysis showed that the patient harboured the compound heterozygous mutations R790X and 1220+1 G-->C in the SPINK5 gene, compatible with the diagnosis of Netherton syndrome (NS). 16120162 2005
dbSNP: rs121908387
rs121908387
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		T 0.710 CausalMutation CLINVAR
dbSNP: rs2052536
rs2052536
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs199757347
rs199757347
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		T 0.700 CausalMutation CLINVAR Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation. 26865388 2016
dbSNP: rs1131691490
rs1131691490
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		A 0.700 CausalMutation CLINVAR Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. 11841556 2002
dbSNP: rs1561701382
rs1561701382
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		A 0.700 GeneticVariation CLINVAR Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. 11841556 2002
dbSNP: rs1131691490
rs1131691490
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		A 0.700 CausalMutation CLINVAR The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. 11511292 2001
dbSNP: rs1561701382
rs1561701382
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		A 0.700 GeneticVariation CLINVAR The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. 11511292 2001
dbSNP: rs199757347
rs199757347
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		T 0.700 CausalMutation CLINVAR The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. 11511292 2001
dbSNP: rs1554104853
rs1554104853
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1561680487
rs1561680487
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1561684604
rs1561684604
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1561686960
rs1561686960
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1561695740
rs1561695740
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs368134354
rs368134354
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0011606
Disease:
Exfoliative dermatitis 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs368134354
rs368134354
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0236175
Disease:
Increased IgE level 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs368134354
rs368134354
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		A 0.700 CausalMutation CLINVAR
dbSNP: rs565782662
rs565782662
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		G 0.700 CausalMutation CLINVAR
dbSNP: rs565782662
rs565782662
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs587777749
rs587777749
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
CUI: C0265962
Disease:
Ichthyosis linearis circumflexa 		T 0.700 CausalMutation CLINVAR