CLGN, calmegin, 1047

N. diseases: 11; N. variants: 4
Disease: Short stature ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1560739587
rs1560739587 		4 140396131 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1560743601
rs1560743601 		4 140405975 missense variant G/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs201306926
rs201306926 		4 140399004 missense variant T/C snv 3.6E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0