rs122468178, MBTPS2

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Ichthyosis follicularis atrichia photophobia syndrome
CUI: C1839988
Disease: Ichthyosis follicularis atrichia photophobia syndrome
7 0.851 0.320 X 21880921 missense variant G/A snv 0.800 0
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
CUI: C3502469
Disease: Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
1 0.851 0.320 X 21880921 missense variant G/A snv 0.020 1.000 2 2012 2013
Ichthyosis follicularis
CUI: C4531223
Disease: Ichthyosis follicularis
1 0.851 0.320 X 21880921 missense variant G/A snv 0.010 1.000 1 2012 2012
Ichthyosis follicularis with alopecia and photophobia (IFAP)
CUI: C1275091
Disease: Ichthyosis follicularis with alopecia and photophobia (IFAP)
1 0.851 0.320 X 21880921 missense variant G/A snv 0.010 1.000 1 2011 2011
Photophobia
CUI: C0085636
Disease: Photophobia
7 0.851 0.320 X 21880921 missense variant G/A snv 0.010 1.000 1 2012 2012