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: rs121434616
rs121434616
1.000 0.071 X 120544179 stop gained G/A snp
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
0.700 3 1994 2007
dbSNP: rs121434616
rs121434616
1.000 0.071 X 120544179 stop gained G/A snp
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 1 2015 2015
dbSNP: rs121434616
rs121434616
1.000 0.071 X 120544179 stop gained G/A snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs121434616
rs121434616
1.000 0.071 X 120544179 stop gained G/A snp
CUI: C0036572
Disease: Seizures
Seizures
0.700 1 2015 2015
dbSNP: rs121434616
rs121434616
1.000 0.071 X 120544179 stop gained G/A snp
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
0.700 1 2015 2015
dbSNP: rs121434616
rs121434616
1.000 0.071 X 120544179 stop gained G/A snp
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 1 2015 2015