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: rs1559155800
rs1559155800
OBSL1
1.000 0.200 2 219568150 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2019 2019
dbSNP: rs1553538488
rs1553538488
INHA ; OBSL1
1.000 0.200 2 219570542 frameshift variant -/G delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0