Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs752941297
rs752941297
SPINK5
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
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: 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
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
0.010 GeneticVariation BEFREE The aim of this study was to investigate an association between single nucleotide polymorphism of the MIF gene -rs755622 and serum MIF concentrations in NS patients. 26541175

2016
dbSNP: rs777436361
rs777436361
SPINK5
0.010 GeneticVariation BEFREE Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5. 23331056

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

2002
dbSNP: rs1561686960
rs1561686960
SPINK5
A 0.700 CausalMutation CLINVAR

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

2002
dbSNP: rs368134354
rs368134354
SPINK5
A 0.700 CausalMutation CLINVAR

dbSNP: rs766978225
rs766978225
SPINK5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554104853
rs1554104853
SPINK5
C 0.700 CausalMutation CLINVAR

dbSNP: rs1561680487
rs1561680487
SPINK5
C 0.700 CausalMutation CLINVAR

dbSNP: rs1561695740
rs1561695740
SPINK5
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1561684604
rs1561684604
SPINK5
G 0.700 CausalMutation CLINVAR

dbSNP: rs565782662
rs565782662
SPINK5
G 0.700 CausalMutation CLINVAR

dbSNP: rs761490126
rs761490126
SPINK5
G 0.700 GeneticVariation CLINVAR

dbSNP: rs565782662
rs565782662
SPINK5
GA 0.700 CausalMutation CLINVAR

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
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
SPINK5
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: rs121908387
rs121908387
SPINK5
T 0.710 CausalMutation CLINVAR