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: rs1305542291
rs1305542291
SCAPER
0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.800 0
dbSNP: rs1555447569
rs1555447569
SCAPER
0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 1 2017 2017
dbSNP: rs1555447569
rs1555447569
SCAPER
0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 1 2017 2017
dbSNP: rs1555447569
rs1555447569
SCAPER
0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 1.000 1 2017 2017
dbSNP: rs1555558169
rs1555558169
SCAPER
0.925 0.080 15 76728739 splice acceptor variant T/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2017 2017
dbSNP: rs1567499068
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C4072867
Disease: obsolete Peripheral retinopathy
obsolete Peripheral retinopathy 		0.700 1.000 1 2019 2019
dbSNP: rs1567499068
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.700 1.000 1 2019 2019
dbSNP: rs1567499068
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2019 2019
dbSNP: rs1567499068
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2019 2019
dbSNP: rs1567499068
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C0028754
Disease: Obesity
Obesity 		0.700 1.000 1 2019 2019
dbSNP: rs1567499068
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 1.000 1 2019 2019
dbSNP: rs1239725461
rs1239725461
SCAPER
0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.700 0
dbSNP: rs1239725461
rs1239725461
SCAPER
0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.700 0
dbSNP: rs1239725461
rs1239725461
SCAPER
0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs1239725461
rs1239725461
SCAPER
0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1305542291
rs1305542291
SCAPER
0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1305542291
rs1305542291
SCAPER
0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs1395475624
rs1395475624
SCAPER
0.882 0.160 15 76753813 inframe deletion CTT/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1395475624
rs1395475624
SCAPER
0.882 0.160 15 76753813 inframe deletion CTT/- delins
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.700 0
dbSNP: rs1395475624
rs1395475624
SCAPER
0.882 0.160 15 76753813 inframe deletion CTT/- delins
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs1555447569
rs1555447569
SCAPER
0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.700 0
dbSNP: rs1555558169
rs1555558169
SCAPER
0.925 0.080 15 76728739 splice acceptor variant T/C snv
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.700 0