. 2022 Sep 16;12:389. doi: 10.1038/s41398-022-02144-0

Table 4.

Candidates with pleiotropic features (i.e., shared genetic risks) between CD and AD/D.

Genomic location^a	Gene symbol	Ref/Alt2^b	Average of pathogenic score^c	No. of AD^d	Allele frequency		Clinical significance (ClinVar)
Genomic location^a	Gene symbol	Ref/Alt2^b	Average of pathogenic score^c	No. of AD^d	ExAC (all)	ExAC (Finnish cohort)	Clinical significance (ClinVar)
Chr6, 150949095	MTHFD1L	G/A	0.815	3	0.01264	0.0065	NS
Chr2, 115840821	DPP10	C/A	0.792	2	0.00308	0.00076	NS
Chr3, 186854237	ADIPOQ	G/A	0.861	1	0.00302	0.00045	NS

None of the selected variants were detected in the non-AD samples.

NS not significant.

^aGenomic assembly version of GRCh 38.

^bReference nucleotides (Ref) and alternative nucleotides (Alt).

^cAverage pathogenic scores from 16 algorithms (SIFT, Polyphen2_HDIV, Polyphen2_HVAR, MutationTester, PROVEAN, REVEL, CADD, fathmm-MKL, Eigen-PC-raw, GERP++, PolyP100way_vertebrate, PolyP20way_Mammalian, phastCons100way_vertebrate, phastCons20way_mammalian, VEST3, and Siphy_29way_logOdds).

^dNumber of patientswith Alzheimer’s disease (AD) in our NBB WES dataset (43 AD and seven non-ADsamples).