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: rs1557106484
rs1557106484
ATRX
X 77633315 missense variant C/A snv
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs1557106484
rs1557106484
ATRX
X 77633315 missense variant C/A snv
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs1557106484
rs1557106484
ATRX
X 77633315 missense variant C/A snv
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		0.700 0
dbSNP: rs1557106484
rs1557106484
ATRX
X 77633315 missense variant C/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1557106484
rs1557106484
ATRX
X 77633315 missense variant C/A snv
CUI: C0013132
Disease: Drooling
Drooling 		0.700 0
dbSNP: rs1557106484
rs1557106484
ATRX
X 77633315 missense variant C/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1557106484
rs1557106484
ATRX
X 77633315 missense variant C/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0