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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs63750306

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr14:73173663 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
PSEN1 : Missense Variant
Publications
7 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 14 NC_000014.9:g.73173663A>C
GRCh38.p12 chr 14 NC_000014.9:g.73173663A>G
GRCh38.p12 chr 14 NC_000014.9:g.73173663A>T
GRCh37.p13 chr 14 NC_000014.8:g.73640371A>C
GRCh37.p13 chr 14 NC_000014.8:g.73640371A>G
GRCh37.p13 chr 14 NC_000014.8:g.73640371A>T
PSEN1 RefSeqGene NG_007386.2:g.42193A>C
PSEN1 RefSeqGene NG_007386.2:g.42193A>G
PSEN1 RefSeqGene NG_007386.2:g.42193A>T
Gene: PSEN1, presenilin 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PSEN1 transcript variant 1 NM_000021.4:c.436A>C M [ATG] > L [CTG] Coding Sequence Variant
presenilin-1 isoform I-467 NP_000012.1:p.Met146Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant 1 NM_000021.4:c.436A>G M [ATG] > V [GTG] Coding Sequence Variant
presenilin-1 isoform I-467 NP_000012.1:p.Met146Val M (Met) > V (Val) Missense Variant
PSEN1 transcript variant 1 NM_000021.4:c.436A>T M [ATG] > L [TTG] Coding Sequence Variant
presenilin-1 isoform I-467 NP_000012.1:p.Met146Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant 2 NM_007318.3:c.424A>C M [ATG] > L [CTG] Coding Sequence Variant
presenilin-1 isoform I-463 NP_015557.2:p.Met142Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant 2 NM_007318.3:c.424A>G M [ATG] > V [GTG] Coding Sequence Variant
presenilin-1 isoform I-463 NP_015557.2:p.Met142Val M (Met) > V (Val) Missense Variant
PSEN1 transcript variant 2 NM_007318.3:c.424A>T M [ATG] > L [TTG] Coding Sequence Variant
presenilin-1 isoform I-463 NP_015557.2:p.Met142Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant X2 XM_011536972.2:c.436A>C M [ATG] > L [CTG] Coding Sequence Variant
presenilin-1 isoform X1 XP_011535274.1:p.Met146Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant X2 XM_011536972.2:c.436A>G M [ATG] > V [GTG] Coding Sequence Variant
presenilin-1 isoform X1 XP_011535274.1:p.Met146Val M (Met) > V (Val) Missense Variant
PSEN1 transcript variant X2 XM_011536972.2:c.436A>T M [ATG] > L [TTG] Coding Sequence Variant
presenilin-1 isoform X1 XP_011535274.1:p.Met146Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant X1 XM_005267864.3:c.436A>C M [ATG] > L [CTG] Coding Sequence Variant
presenilin-1 isoform X1 XP_005267921.1:p.Met146Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant X1 XM_005267864.3:c.436A>G M [ATG] > V [GTG] Coding Sequence Variant
presenilin-1 isoform X1 XP_005267921.1:p.Met146Val M (Met) > V (Val) Missense Variant
PSEN1 transcript variant X1 XM_005267864.3:c.436A>T M [ATG] > L [TTG] Coding Sequence Variant
presenilin-1 isoform X1 XP_005267921.1:p.Met146Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant X3 XM_005267866.2:c.424A>C M [ATG] > L [CTG] Coding Sequence Variant
presenilin-1 isoform X2 XP_005267923.1:p.Met142Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant X3 XM_005267866.2:c.424A>G M [ATG] > V [GTG] Coding Sequence Variant
presenilin-1 isoform X2 XP_005267923.1:p.Met142Val M (Met) > V (Val) Missense Variant
PSEN1 transcript variant X3 XM_005267866.2:c.424A>T M [ATG] > L [TTG] Coding Sequence Variant
presenilin-1 isoform X2 XP_005267923.1:p.Met142Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant X4 XM_011536974.2:c.424A>C M [ATG] > L [CTG] Coding Sequence Variant
presenilin-1 isoform X2 XP_011535276.1:p.Met142Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant X4 XM_011536974.2:c.424A>G M [ATG] > V [GTG] Coding Sequence Variant
presenilin-1 isoform X2 XP_011535276.1:p.Met142Val M (Met) > V (Val) Missense Variant
PSEN1 transcript variant X4 XM_011536974.2:c.424A>T M [ATG] > L [TTG] Coding Sequence Variant
presenilin-1 isoform X2 XP_011535276.1:p.Met142Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant X5 XM_011536973.2:c.424A>C M [ATG] > L [CTG] Coding Sequence Variant
presenilin-1 isoform X2 XP_011535275.1:p.Met142Leu M (Met) > L (Leu) Missense Variant
PSEN1 transcript variant X5 XM_011536973.2:c.424A>G M [ATG] > V [GTG] Coding Sequence Variant
presenilin-1 isoform X2 XP_011535275.1:p.Met142Val M (Met) > V (Val) Missense Variant
PSEN1 transcript variant X5 XM_011536973.2:c.424A>T M [ATG] > L [TTG] Coding Sequence Variant
presenilin-1 isoform X2 XP_011535275.1:p.Met142Leu M (Met) > L (Leu) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: C (allele ID: 33162 )
ClinVar Accession Disease Names Clinical Significance
RCV000019751.29 Alzheimer disease, type 3 Pathogenic
Allele: G (allele ID: 33168 )
ClinVar Accession Disease Names Clinical Significance
RCV000019757.27 Alzheimer disease, type 3 Pathogenic
Allele: T (allele ID: 103920 )
ClinVar Accession Disease Names Clinical Significance
RCV000084310.1 not provided Not-Provided
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

None
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= C G T Note
GRCh38.p12 chr 14 NC_000014.9:g...

NC_000014.9:g.73173663=

NC_000014.9:g...

NC_000014.9:g.73173663A>C

NC_000014.9:g...

NC_000014.9:g.73173663A>G

NC_000014.9:g...

NC_000014.9:g.73173663A>T

GRCh37.p13 chr 14 NC_000014.8:g...

NC_000014.8:g.73640371=

NC_000014.8:g...

NC_000014.8:g.73640371A>C

NC_000014.8:g...

NC_000014.8:g.73640371A>G

NC_000014.8:g...

NC_000014.8:g.73640371A>T

PSEN1 RefSeqGene NG_007386.2:g...

NG_007386.2:g.42193=

NG_007386.2:g...

NG_007386.2:g.42193A>C

NG_007386.2:g...

NG_007386.2:g.42193A>G

NG_007386.2:g...

NG_007386.2:g.42193A>T

PSEN1 transcript variant 1 NM_000021.4:c...

NM_000021.4:c.436=

NM_000021.4:c...

NM_000021.4:c.436A>C

NM_000021.4:c...

NM_000021.4:c.436A>G

NM_000021.4:c...

NM_000021.4:c.436A>T

PSEN1 transcript variant 1 NM_000021.3:c...

NM_000021.3:c.436=

NM_000021.3:c...

NM_000021.3:c.436A>C

NM_000021.3:c...

NM_000021.3:c.436A>G

NM_000021.3:c...

NM_000021.3:c.436A>T

PSEN1 transcript variant 2 NM_007318.2:c...

NM_007318.2:c.424=

NM_007318.2:c...

NM_007318.2:c.424A>C

NM_007318.2:c...

NM_007318.2:c.424A>G

NM_007318.2:c...

NM_007318.2:c.424A>T

PSEN1 transcript variant 2 NM_007318.3:c...

NM_007318.3:c.424=

NM_007318.3:c...

NM_007318.3:c.424A>C

NM_007318.3:c...

NM_007318.3:c.424A>G

NM_007318.3:c...

NM_007318.3:c.424A>T

PSEN1 transcript variant X1 XM_005267864....

XM_005267864.3:c.436=

XM_005267864....

XM_005267864.3:c.436A>C

XM_005267864....

XM_005267864.3:c.436A>G

XM_005267864....

XM_005267864.3:c.436A>T

PSEN1 transcript variant X1 XM_005267864....

XM_005267864.1:c.436=

XM_005267864....

XM_005267864.1:c.436A>C

XM_005267864....

XM_005267864.1:c.436A>G

XM_005267864....

XM_005267864.1:c.436A>T

PSEN1 transcript variant X2 XM_011536972....

XM_011536972.2:c.436=

XM_011536972....

XM_011536972.2:c.436A>C

XM_011536972....

XM_011536972.2:c.436A>G

XM_011536972....

XM_011536972.2:c.436A>T

PSEN1 transcript variant X5 XM_011536973....

XM_011536973.2:c.424=

XM_011536973....

XM_011536973.2:c.424A>C

XM_011536973....

XM_011536973.2:c.424A>G

XM_011536973....

XM_011536973.2:c.424A>T

PSEN1 transcript variant X3 XM_005267866....

XM_005267866.2:c.424=

XM_005267866....

XM_005267866.2:c.424A>C

XM_005267866....

XM_005267866.2:c.424A>G

XM_005267866....

XM_005267866.2:c.424A>T

PSEN1 transcript variant X4 XM_005267866....

XM_005267866.1:c.424=

XM_005267866....

XM_005267866.1:c.424A>C

XM_005267866....

XM_005267866.1:c.424A>G

XM_005267866....

XM_005267866.1:c.424A>T

PSEN1 transcript variant X4 XM_011536974....

XM_011536974.2:c.424=

XM_011536974....

XM_011536974.2:c.424A>C

XM_011536974....

XM_011536974.2:c.424A>G

XM_011536974....

XM_011536974.2:c.424A>T

presenilin-1 isoform I-467 NP_000012.1:p...

NP_000012.1:p.Met146=

NP_000012.1:p...

NP_000012.1:p.Met146Leu

NP_000012.1:p...

NP_000012.1:p.Met146Val

NP_000012.1:p...

NP_000012.1:p.Met146Leu

presenilin-1 isoform I-463 NP_015557.2:p...

NP_015557.2:p.Met142=

NP_015557.2:p...

NP_015557.2:p.Met142Leu

NP_015557.2:p...

NP_015557.2:p.Met142Val

NP_015557.2:p...

NP_015557.2:p.Met142Leu

presenilin-1 isoform X1 XP_005267921....

XP_005267921.1:p.Met146=

XP_005267921....

XP_005267921.1:p.Met146Leu

XP_005267921....

XP_005267921.1:p.Met146Val

XP_005267921....

XP_005267921.1:p.Met146Leu

presenilin-1 isoform X1 XP_011535274....

XP_011535274.1:p.Met146=

XP_011535274....

XP_011535274.1:p.Met146Leu

XP_011535274....

XP_011535274.1:p.Met146Val

XP_011535274....

XP_011535274.1:p.Met146Leu

presenilin-1 isoform X2 XP_011535275....

XP_011535275.1:p.Met142=

XP_011535275....

XP_011535275.1:p.Met142Leu

XP_011535275....

XP_011535275.1:p.Met142Val

XP_011535275....

XP_011535275.1:p.Met142Leu

presenilin-1 isoform X2 XP_005267923....

XP_005267923.1:p.Met142=

XP_005267923....

XP_005267923.1:p.Met142Leu

XP_005267923....

XP_005267923.1:p.Met142Val

XP_005267923....

XP_005267923.1:p.Met142Leu

presenilin-1 isoform X2 XP_011535276....

XP_011535276.1:p.Met142=

XP_011535276....

XP_011535276.1:p.Met142Leu

XP_011535276....

XP_011535276.1:p.Met142Val

XP_011535276....

XP_011535276.1:p.Met142Leu

Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

8 SubSNP, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 VIB_MOLGEN_ADFTDMDB ss95215880 Feb 13, 2013 (137)
2 VIB_MOLGEN_ADFTDMDB ss95215881 Feb 13, 2013 (137)
3 VIB_MOLGEN_ADFTDMDB ss95215967 Feb 13, 2013 (137)
4 GENEREVIEWS ss158188441 Nov 16, 2012 (137)
5 OMIM-CURATED-RECORDS ss275513868 Nov 22, 2010 (133)
6 OMIM-CURATED-RECORDS ss275513874 Nov 22, 2010 (133)
7 ILLUMINA ss3625662088 Oct 12, 2018 (152)
8 ILLUMINA ss3625662089 Oct 12, 2018 (152)
9 ClinVar RCV000019751.29 Oct 12, 2018 (152)
10 ClinVar RCV000019757.27 Oct 12, 2018 (152)
11 ClinVar RCV000084310.1 Oct 12, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
RCV000019751.29, ss158188441 NC_000014.9:73173662:A:C NC_000014.9:73173662:A:C (self)
ss3625662088 NC_000014.8:73640370:A:G NC_000014.9:73173662:A:G (self)
RCV000019757.27, ss275513874 NC_000014.9:73173662:A:G NC_000014.9:73173662:A:G (self)
ss3625662089 NC_000014.8:73640370:A:T NC_000014.9:73173662:A:T (self)
RCV000084310.1, ss95215880, ss95215881, ss95215967, ss275513868 NC_000014.9:73173662:A:T NC_000014.9:73173662:A:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

7 citations for rs63750306
PMID Title Author Year Journal
7550356 The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Alzheimer's Disease Collaborative Group. et al. 1995 Nature genetics
7596406 Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Sherrington R et al. 1995 Nature
7623584 Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease. Sorbi S et al. 1995 Lancet (London, England)
9712537 Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina. Morelli L et al. 1998 Clinical genetics
15622541 Pick bodies in a family with presenilin-1 Alzheimer's disease. Halliday GM et al. 2005 Annals of neurology
20164095 Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. Bruni AC et al. 2010 Neurology
20301414 Early-Onset Familial Alzheimer Disease Bird TD et al. 1993 GeneReviews®

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post246+3cda961