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: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0018672
Disease: Head Banging
Head Banging
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C4022758
Disease: Mild hearing impairment
Mild hearing impairment
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C1837785
Disease: Prominent superficial veins
Prominent superficial veins
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C4022680
Disease: Lagopthalmos
Lagopthalmos
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C2032780
Disease: Palate fistula
Palate fistula
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C1185616
Disease: Hair whorls
Hair whorls
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
Contracture of the distal interphalangeal joint of the fingers
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0013132
Disease: Drooling
Drooling
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
0.700 0