Gene: SPINK5 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908387
rs121908387
SPINK5
T 0.710 CausalMutation CLINVAR

dbSNP: rs1554104853
rs1554104853
SPINK5
C 0.700 CausalMutation CLINVAR

dbSNP: rs1561680487
rs1561680487
SPINK5
C 0.700 CausalMutation CLINVAR

dbSNP: rs1561684604
rs1561684604
SPINK5
G 0.700 CausalMutation CLINVAR

dbSNP: rs1561686960
rs1561686960
SPINK5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1561695740
rs1561695740
SPINK5
CT 0.700 CausalMutation CLINVAR

dbSNP: rs368134354
rs368134354
SPINK5
A 0.700 CausalMutation CLINVAR

dbSNP: rs565782662
rs565782662
SPINK5
G 0.700 CausalMutation CLINVAR

dbSNP: rs565782662
rs565782662
SPINK5
GA 0.700 CausalMutation CLINVAR

dbSNP: rs587777749
rs587777749
SPINK5
T 0.700 CausalMutation CLINVAR

dbSNP: rs753621591
rs753621591
SPINK5
T 0.700 CausalMutation CLINVAR

dbSNP: rs761490126
rs761490126
SPINK5
G 0.700 GeneticVariation CLINVAR

dbSNP: rs766978225
rs766978225
SPINK5
A 0.700 CausalMutation CLINVAR

dbSNP: rs121908387
rs121908387
SPINK5
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: rs924297783
rs924297783
SPINK5
0.010 GeneticVariation BEFREE In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition. 21564178

2011
dbSNP: rs199757347
rs199757347
SPINK5
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: rs777436361
rs777436361
SPINK5
0.010 GeneticVariation BEFREE Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5. 23331056

2014
dbSNP: rs1131691490
rs1131691490
SPINK5
A 0.700 CausalMutation CLINVAR Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. 11841556

2002
dbSNP: rs1561701382
rs1561701382
SPINK5
A 0.700 GeneticVariation CLINVAR Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. 11841556

2002
dbSNP: rs752941297
rs752941297
SPINK5
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
SPINK5
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: rs1131691490
rs1131691490
SPINK5
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
SPINK5
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
SPINK5
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: rs2303067
rs2303067
SPINK5
0.010 GeneticVariation BEFREE This finding indicates that haploinsufficiency of SPINK5 can cause the NS phenotype in the presence of one null mutation with homozygous G1258A polymorphisms in SPINK5, and this could impair the function of LEKTI and therefore acts as a true mutation. 19438860

2009