rs886041093, EHMT1

N. diseases: 7
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.
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.827 0.280 9 137815998 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.280 9 137815998 missense variant G/A snv 0.700 0
KLEEFSTRA SYNDROME 1
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
25 0.827 0.280 9 137815998 missense variant G/A snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.827 0.280 9 137815998 missense variant G/A snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.827 0.280 9 137815998 missense variant G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.280 9 137815998 missense variant G/A snv 0.700 0
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.827 0.280 9 137815998 missense variant G/A snv 0.700 0