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: rs1555525115
rs1555525115
ANKRD11
0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		0.700 0
dbSNP: rs1555525115
rs1555525115
ANKRD11
0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1555525115
rs1555525115
ANKRD11
0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.700 0
dbSNP: rs1555525115
rs1555525115
ANKRD11
0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.700 0
dbSNP: rs1555525115
rs1555525115
ANKRD11
0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0