Source: GWASCAT

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: rs28945068
rs28945068
MASP1
3 187241507 missense variant C/T snv 1.2E-02 1.2E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3852053
rs3852053
MASP1
0.851 0.080 3 187219412 3 prime UTR variant T/G snv 0.47
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.700 1.000 1 2014 2014
dbSNP: rs3852053
rs3852053
MASP1
0.851 0.080 3 187219412 3 prime UTR variant T/G snv 0.47
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 1.000 1 2014 2014
dbSNP: rs3852053
rs3852053
MASP1
0.851 0.080 3 187219412 3 prime UTR variant T/G snv 0.47
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs3852053
rs3852053
MASP1
0.851 0.080 3 187219412 3 prime UTR variant T/G snv 0.47
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs3864095
rs3864095
MASP1
1.000 0.080 3 187219249 3 prime UTR variant G/A;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 1.000 1 2018 2018