APOE

ApoE status is defined by these two SNPs:

• rs429358
• rs7412

rs429358 is located in the fourth exon of the ApoE gene (19:45411941), affects the amino acid at position 130 of the resulting protein; the more common allele is rs429358(T)(ref). If this allele is rs429358(C)(alt) and the same chromosome also harbors rs7412(C)(ref) allele, the combination is known as an APOE-ε4 allele.

Here are the various combinations of SNPs that constitute APOE alleles: ε2 ε3 ε4

   APOE ε2   |  rs429358( T ) + rs7412( T )
   
   APOE ε3   |  rs429358( T ) + rs7412( C )
   
   APOE ε4   |  rs429358( C ) + rs7412( C )

APOE STATUS (GRCh37 CHR19:POSITION) APOE 2 45411941 ( T ) 45412079 ( T ) APOE 3 45411941 ( T ) 45412079 ( C ) APOE 4 45411941 ( C ) 45412079 ( C ) APOE 2/2 45411941 ( T , T ) 45412079 ( T , T ) APOE 2/3 45411941 ( T , T ) 45412079 ( T , C ) APOE 2/4 45411941 ( T , C ) 45412079 ( T , C ) APOE 3/3 45411941 ( T , T ) 45412079 ( C , C ) APOE 3/4 45411941 ( T , C ) 45412079 ( C , C ) APOE 4/4 45411941 ( C , C ) 45412079 ( C , C )

GENOMIC LOCATIONS

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	SNP	CHR	GRCh37.p13	GRCh38.p7	REF	ALT
	rs429358	19	45411941	44908684	T	C
	rs7412	19	45412079	44908822	C	T

MORE DETAILS

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One meta-analysis estimated the odds ratios for homozygous rs429358(C;C) individuals compared to the more common ApoE3/ApoE3 homozygotes to be 12x for late-onset Alzheimer's and 61x for early-onset disease. Note: Although ApoE status is technically defined by these two SNPs, rs429358 and rs7412, a SNP in the adjacent ApoC1 gene, rs4420638, is co-inherited with ApoE and thus often - though not completely - predictive of it.

VIEWER

   SNP NAME 
   GCTGGGCGCGGACATGGAGGACGTG[C/T]GCGGCCGCCTGGTGCAGTACCGCGG
   NC_000019.9  @ 45411941 @GRCh37.p13 : 19:45411941
   NC_000019.10 @ 44908684 @GRCh38.p7  : 19:45411941
   Variation ID:	rs429358
   Variant Type:	SNP, length 1
   Alleles:	    C/T

   SNP NAME
   NC_000019.9  @ 45412079 @GRCh37.p13 : 19:45412079
   NC_000019.10 @ 44908822 @GRCh38.p7  : 19:44908822
   Variation ID:	rs7412
   Variant Type:	SNP, length 1
   Alleles:	    C/T

Doctorates Awarded by State and Sex

APOE STATUS	GRCh37		CHR19		POSITION
ALLELE	POS	SNP1	SNP2	POS	SNP1	SNP2
APOE 2/2	45411941	T	T	45412079	T	T
APOE 2/3	45411941	T	T	45412079	T	T
APOE 2/4	45411941	T	T	45412079	T	T
APOE 3/3	45411941	T	T	45412079	T	T
APOE 3/4	45411941	T	T	45412079	T	T
APOE 4/4	45411941	T	T	45412079	T	T