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: rs531047390
rs531047390
1.000 0.107 14 78968349 splice region variant A/G snp 2.0E-04 3.2E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs531047390
rs531047390
1.000 0.107 14 78968349 splice region variant A/G snp 2.0E-04 3.2E-05
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
0.700 0