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: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0751466
Disease: Phonophobia
Phonophobia 		0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C1855285
Disease: Protruding ear
Protruding ear 		0.700 0