LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 ×
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: rs147077184
rs147077184 		1.000 6 129349348 missense variant C/T snv 3.7E-03 3.3E-03
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.800 1.000 2 2011 2014
dbSNP: rs34367843
rs34367843 		1.000 6 129473344 missense variant A/T snv 2.2E-03 8.9E-03
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.700 1.000 2 2011 2014
dbSNP: rs121913572
rs121913572 		0.882 0.120 6 129481422 stop gained C/G;T snv 5.2E-05 3.5E-05
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.700 0
dbSNP: rs1554234163
rs1554234163 		0.925 0.120 6 129177868 splice donor variant T/C snv
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.700 0
dbSNP: rs1554269966
rs1554269966 		0.882 0.120 6 129315952 splice donor variant T/C snv
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.700 0
dbSNP: rs1562200866
rs1562200866 		1.000 6 129059891 stop gained C/T snv
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.700 0
dbSNP: rs1562273395
rs1562273395 		1.000 6 129143989 missense variant T/C snv
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.700 0
dbSNP: rs1562497781
rs1562497781 		1.000 6 129366363 splice donor variant T/GGCC delins
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.700 0
dbSNP: rs398123373
rs398123373 		0.925 0.120 6 129316089 stop gained C/G;T snv 4.0E-06; 6.0E-05
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.700 0
dbSNP: rs749522728
rs749522728 		0.925 0.120 6 129492484 splice donor variant G/A snv 8.0E-06
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.700 0
dbSNP: rs758775001
rs758775001 		0.925 0.120 6 129391535 stop gained C/G;T snv 2.4E-05
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.700 0
dbSNP: rs762806915
rs762806915 		0.925 0.120 6 129464371 stop gained C/A snv 2.8E-05 1.4E-05
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.700 0