LAMA5, laminin subunit alpha 5, 3911

N. diseases: 56; N. variants: 9
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: rs370433088
rs370433088 		20 62322314 missense variant C/T snv 1.0E-04 1.0E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs766464011
rs766464011 		20 62333128 missense variant G/T snv 1.1E-04 5.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs773956500
rs773956500 		20 62322722 missense variant T/C snv 4.3E-05 2.9E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0