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: rs752482499
rs752482499
SLC7A8
14 23140529 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs759951698
rs759951698
SLC7A8
14 23139485 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0