Source: ALL

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: rs1555986267
rs1555986267
MBTPS2
1.000 X 21882471 missense variant A/G snv
CUI: C4746956
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIX
OSTEOGENESIS IMPERFECTA, TYPE XIX 		0.800 1.000 1 2016 2016
dbSNP: rs1555986287
rs1555986287
MBTPS2
1.000 X 21882610 missense variant G/C snv
CUI: C4746956
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIX
OSTEOGENESIS IMPERFECTA, TYPE XIX 		0.800 1.000 1 2016 2016
dbSNP: rs587777306
rs587777306
MBTPS2
1.000 X 21882486 missense variant T/C snv
CUI: C3806745
Disease: PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED 		0.800 1.000 1 2013 2013
dbSNP: rs122468176
rs122468176
MBTPS2
1.000 0.200 X 21868476 missense variant A/T snv
CUI: C1839988
Disease: Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis follicularis atrichia photophobia syndrome 		0.800 0
dbSNP: rs122468177
rs122468177
MBTPS2
1.000 0.200 X 21845207 missense variant G/A snv
CUI: C1839988
Disease: Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis follicularis atrichia photophobia syndrome 		0.800 0
dbSNP: rs122468178
rs122468178
MBTPS2
0.851 0.320 X 21880921 missense variant G/A snv
CUI: C1839988
Disease: Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis follicularis atrichia photophobia syndrome 		0.800 0
dbSNP: rs122468179
rs122468179
MBTPS2
1.000 0.200 X 21882519 missense variant T/C snv
CUI: C1839988
Disease: Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis follicularis atrichia photophobia syndrome 		0.800 0
dbSNP: rs122468180
rs122468180
MBTPS2
1.000 0.200 X 21868473 missense variant G/T snv
CUI: C1839988
Disease: Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis follicularis atrichia photophobia syndrome 		0.800 0
dbSNP: rs587776867
rs587776867
MBTPS2
0.925 0.200 X 21882618 missense variant A/G;T snv
CUI: C3887525
Disease: Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratosis Follicularis Spinulosa Decalvans, X-Linked 		0.800 0
dbSNP: rs147081325
rs147081325
MBTPS2 ; YY2
1.000 0.080 X 21856791 missense variant G/A snv 4.9E-05 1.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs587777305
rs587777305
MBTPS2
1.000 0.200 X 21868458 intron variant T/G snv
CUI: C1839988
Disease: Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis follicularis atrichia photophobia syndrome 		0.700 0
dbSNP: rs122468178
rs122468178
MBTPS2
0.851 0.320 X 21880921 missense variant G/A snv
CUI: C3502469
Disease: Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia 		0.020 1.000 2 2012 2013
dbSNP: rs122468178
rs122468178
MBTPS2
0.851 0.320 X 21880921 missense variant G/A snv
CUI: C0085636
Disease: Photophobia
Photophobia 		0.010 1.000 1 2012 2012
dbSNP: rs122468178
rs122468178
MBTPS2
0.851 0.320 X 21880921 missense variant G/A snv
CUI: C1275091
Disease: Ichthyosis follicularis with alopecia and photophobia (IFAP)
Ichthyosis follicularis with alopecia and photophobia (IFAP) 		0.010 1.000 1 2011 2011
dbSNP: rs122468178
rs122468178
MBTPS2
0.851 0.320 X 21880921 missense variant G/A snv
CUI: C4531223
Disease: Ichthyosis follicularis
Ichthyosis follicularis 		0.010 1.000 1 2012 2012
dbSNP: rs587776867
rs587776867
MBTPS2
0.925 0.200 X 21882618 missense variant A/G;T snv
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		0.010 1.000 1 2015 2015