List of variants in gene PSEN1 reported as pathogenic for Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 18

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HGVS	dbSNP
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)	rs661
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)	rs63750083
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)	rs63749824
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)	rs63750450
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)	rs63750730
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)	rs63751278
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)	rs63750004
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)	rs63750306
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)	rs63750590
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)	rs63750082
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)	rs63750053
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)	rs63751287
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)	rs63750526
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)	rs63750900
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)	rs63750886
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)	rs63750231
NM_000021.4(PSEN1):c.869-2A>T	rs1566650594

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