Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE ×
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: rs886037892
rs886037892 		1.000 12 119857620 missense variant C/A snv 4.0E-06
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 4 2016 2016
dbSNP: rs886037893
rs886037893 		1.000 12 119857561 missense variant T/G snv
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 4 2016 2016
dbSNP: rs886037894
rs886037894 		1.000 12 119832835 missense variant T/A;C snv 4.0E-06
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 4 2016 2016
dbSNP: rs879253817
rs879253817 		0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs879255522
rs879255522 		0.925 0.120 12 119822819 splice donor variant C/T snv
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs886037895
rs886037895 		1.000 12 119832768 splice region variant T/A snv 4.0E-06
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0