rs1251778848, KMT2D

N. diseases: 11
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.
Ectopic kidney
CUI: C0238207
Disease: Ectopic kidney
3 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
Kabuki make-up syndrome
CUI: C0796004
Disease: Kabuki make-up syndrome
253 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
Nasogastric tube feeding in infancy
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
9 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
Preauricular dimple
CUI: C0266610
Disease: Preauricular dimple
5 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
Progressive sensorineural hearing impairment
28 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
Redundant neck skin
CUI: C1840319
Disease: Redundant neck skin
3 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
Sacral dimple
CUI: C0426848
Disease: Sacral dimple
11 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
Submucous cleft soft palate
CUI: C4023175
Disease: Submucous cleft soft palate
1 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
Tented upper lip vermilion
CUI: C1839767
Disease: Tented upper lip vermilion
8 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0