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: rs1560739587
rs1560739587
CLGN
4 140396131 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1560743601
rs1560743601
CLGN
4 140405975 missense variant G/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs201306926
rs201306926
CLGN
4 140399004 missense variant T/C snv 3.6E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0