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: rs727503773
rs727503773
SMC1A
0.882 0.160 X 53412950 inframe deletion TCT/- delins
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.700 1.000 2 2009 2019
dbSNP: rs727503773
rs727503773
SMC1A
0.882 0.160 X 53412950 inframe deletion TCT/- delins
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.700 0
dbSNP: rs727503773
rs727503773
SMC1A
0.882 0.160 X 53412950 inframe deletion TCT/- delins
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		0.700 0
dbSNP: rs727503773
rs727503773
SMC1A
0.882 0.160 X 53412950 inframe deletion TCT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs727503773
rs727503773
SMC1A
0.882 0.160 X 53412950 inframe deletion TCT/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs727503773
rs727503773
SMC1A
0.882 0.160 X 53412950 inframe deletion TCT/- delins
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.700 0
dbSNP: rs727503773
rs727503773
SMC1A
0.882 0.160 X 53412950 inframe deletion TCT/- delins
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0