Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs558269137
rs558269137
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris
0.700 1.000 7 2006 2016
dbSNP: rs558269137
rs558269137
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0013595
Disease: Eczema
Eczema
0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C1853965
Disease: Dermatitis, Atopic, 2
Dermatitis, Atopic, 2
0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
0.700 0