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: rs863225465
rs863225465 		1.000 12 132734559 missense variant G/C snv
CUI: C4225249
Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2014 2014
dbSNP: rs11147040
rs11147040 		12 132741820 3 prime UTR variant G/T snv 6.7E-02 0.10
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs117646359
rs117646359 		12 132740542 intron variant C/T snv 4.0E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs7138235
rs7138235 		12 132736651 intron variant T/C snv 0.39
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1185537869
rs1185537869 		1.000 12 132754714 missense variant C/A snv
CUI: C4225249
Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs201785518
rs201785518 		1.000 12 132729818 stop gained G/A snv 5.6E-05 1.4E-05
CUI: C4225249
Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs201785518
rs201785518 		1.000 12 132729818 stop gained G/A snv 5.6E-05 1.4E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs863225465
rs863225465 		1.000 12 132734559 missense variant G/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0