SASS6, SAS-6 centriolar assembly protein, 163786

N. diseases: 36; N. variants: 2
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: rs876661307
rs876661307 		1.000 1 100123231 missense variant A/G snv
CUI: C4225338
Disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2014 2014
dbSNP: rs1193888919
rs1193888919 		1.000 1 100107513 frameshift variant -/T delins 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2011 2014