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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

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.

rs201229909

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:46659442 (GRCh38.p14) 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
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000068 (18/264690, TOPMED)
C=0.000087 (22/251430, GnomAD_exome)
C=0.000142 (27/189620, ALFA) (+ 5 more)
C=0.000078 (11/140232, GnomAD)
C=0.000124 (15/121366, ExAC)
C=0.00000 (0/78668, PAGE_STUDY)
C=0.00008 (1/13000, GO-ESP)
C=0.0007 (3/4480, Estonian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATG13 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 205956 A=0.999864 C=0.000136
European Sub 178282 A=0.999849 C=0.000151
African Sub 9150 A=1.0000 C=0.0000
African Others Sub 352 A=1.000 C=0.000
African American Sub 8798 A=1.0000 C=0.0000
Asian Sub 3338 A=1.0000 C=0.0000
East Asian Sub 2686 A=1.0000 C=0.0000
Other Asian Sub 652 A=1.000 C=0.000
Latin American 1 Sub 796 A=1.000 C=0.000
Latin American 2 Sub 968 A=1.000 C=0.000
South Asian Sub 280 A=1.000 C=0.000
Other Sub 13142 A=0.99992 C=0.00008


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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.999932 C=0.000068
gnomAD - Exomes Global Study-wide 251430 A=0.999913 C=0.000087
gnomAD - Exomes European Sub 135364 A=0.999837 C=0.000163
gnomAD - Exomes Asian Sub 49010 A=1.00000 C=0.00000
gnomAD - Exomes American Sub 34588 A=1.00000 C=0.00000
gnomAD - Exomes African Sub 16254 A=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 A=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6136 A=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 189620 A=0.999858 C=0.000142
Allele Frequency Aggregator European Sub 168218 A=0.999845 C=0.000155
Allele Frequency Aggregator Other Sub 11708 A=0.99991 C=0.00009
Allele Frequency Aggregator African Sub 4312 A=1.0000 C=0.0000
Allele Frequency Aggregator Asian Sub 3338 A=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 968 A=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 796 A=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 280 A=1.000 C=0.000
gnomAD - Genomes Global Study-wide 140232 A=0.999922 C=0.000078
gnomAD - Genomes European Sub 75950 A=0.99986 C=0.00014
gnomAD - Genomes African Sub 42018 A=1.00000 C=0.00000
gnomAD - Genomes American Sub 13656 A=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 A=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2150 A=1.0000 C=0.0000
ExAC Global Study-wide 121366 A=0.999876 C=0.000124
ExAC Europe Sub 73322 A=0.99980 C=0.00020
ExAC Asian Sub 25160 A=1.00000 C=0.00000
ExAC American Sub 11572 A=1.00000 C=0.00000
ExAC African Sub 10404 A=1.00000 C=0.00000
ExAC Other Sub 908 A=1.000 C=0.000
The PAGE Study Global Study-wide 78668 A=1.00000 C=0.00000
The PAGE Study AfricanAmerican Sub 32500 A=1.00000 C=0.00000
The PAGE Study Mexican Sub 10804 A=1.00000 C=0.00000
The PAGE Study Asian Sub 8316 A=1.0000 C=0.0000
The PAGE Study PuertoRican Sub 7914 A=1.0000 C=0.0000
The PAGE Study NativeHawaiian Sub 4534 A=1.0000 C=0.0000
The PAGE Study Cuban Sub 4228 A=1.0000 C=0.0000
The PAGE Study Dominican Sub 3828 A=1.0000 C=0.0000
The PAGE Study CentralAmerican Sub 2446 A=1.0000 C=0.0000
The PAGE Study SouthAmerican Sub 1982 A=1.0000 C=0.0000
The PAGE Study NativeAmerican Sub 1260 A=1.0000 C=0.0000
The PAGE Study SouthAsian Sub 856 A=1.000 C=0.000
GO Exome Sequencing Project Global Study-wide 13000 A=0.99992 C=0.00008
GO Exome Sequencing Project European American Sub 8598 A=0.9999 C=0.0001
GO Exome Sequencing Project African American Sub 4402 A=1.0000 C=0.0000
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9993 C=0.0007
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.p14 chr 11 NC_000011.10:g.46659442A>C
GRCh37.p13 chr 11 NC_000011.9:g.46680992A>C
ATG13 RefSeqGene NG_051811.1:g.47167A>C
Gene: ATG13, autophagy related 13 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATG13 transcript variant 7 NM_001346311.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001333240.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 20 NM_001346324.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333253.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 27 NM_001346331.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333260.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 31 NM_001346335.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform d NP_001333264.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 34 NM_001346338.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform e NP_001333267.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 22 NM_001346326.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333255.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 28 NM_001346332.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333261.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 4 NM_001205120.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001192049.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 13 NM_001346317.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform b NP_001333246.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 30 NM_001346334.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform d NP_001333263.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 48 NM_001346357.2:c.161A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform i NP_001333286.1:p.Gln54Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 16 NM_001346320.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333249.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 10 NM_001346314.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001333243.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 24 NM_001346328.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333257.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 29 NM_001346333.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform d NP_001333262.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 23 NM_001346327.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333256.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 5 NM_001205121.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001192050.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 8 NM_001346312.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001333241.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 21 NM_001346325.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333254.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 40 NM_001346349.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333278.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 12 NM_001346316.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001333245.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 39 NM_001346348.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333277.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 33 NM_001346337.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform d NP_001333266.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 44 NM_001346353.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333282.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 1 NM_001142673.3:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001136145.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 11 NM_001346315.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001333244.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 42 NM_001346351.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333280.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 9 NM_001346313.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001333242.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 49 NM_001346358.2:c.161A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform i NP_001333287.1:p.Gln54Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 45 NM_001346354.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333283.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 18 NM_001346322.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333251.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 38 NM_001346346.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333275.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 47 NM_001346356.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform g NP_001333285.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 3 NM_001205119.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001192048.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 43 NM_001346352.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333281.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 37 NM_001346344.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333273.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 50 NM_001346359.2:c.161A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform i NP_001333288.1:p.Gln54Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 41 NM_001346350.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333279.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 14 NM_001346318.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform b NP_001333247.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 26 NM_001346330.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333259.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 32 NM_001346336.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform d NP_001333265.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 46 NM_001346355.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform g NP_001333284.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 36 NM_001346342.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333271.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 15 NM_001346319.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333248.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 35 NM_001346340.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform e NP_001333269.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 51 NM_001346360.2:c.161A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform j NP_001333289.1:p.Gln54Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 25 NM_001346329.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333258.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 2 NM_014741.5:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_055556.2:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 6 NM_001205122.2:c.509A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform h NP_001192051.1:p.Gln170Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 19 NM_001346323.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333252.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 17 NM_001346321.2:c.746A>C Q [CAA] > P [CCA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333250.1:p.Gln249Pro Q (Gln) > P (Pro) Missense Variant
ATG13 transcript variant 53 NR_144423.2:n.1153A>C N/A Non Coding Transcript Variant
ATG13 transcript variant 54 NR_144424.2:n.1153A>C N/A Non Coding Transcript Variant
ATG13 transcript variant 52 NR_144422.2:n.1153A>C N/A Non Coding Transcript 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.

Not Reported in ClinVar
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
GRCh38.p14 chr 11 NC_000011.10:g.46659442= NC_000011.10:g.46659442A>C
GRCh37.p13 chr 11 NC_000011.9:g.46680992= NC_000011.9:g.46680992A>C
ATG13 RefSeqGene NG_051811.1:g.47167= NG_051811.1:g.47167A>C
ATG13 transcript variant 2 NM_014741.5:c.746= NM_014741.5:c.746A>C
ATG13 transcript variant 2 NM_014741.4:c.746= NM_014741.4:c.746A>C
ATG13 transcript variant 1 NM_001142673.3:c.746= NM_001142673.3:c.746A>C
ATG13 transcript variant 1 NM_001142673.2:c.746= NM_001142673.2:c.746A>C
ATG13 transcript variant 11 NM_001346315.2:c.746= NM_001346315.2:c.746A>C
ATG13 transcript variant 11 NM_001346315.1:c.746= NM_001346315.1:c.746A>C
ATG13 transcript variant 28 NM_001346332.2:c.746= NM_001346332.2:c.746A>C
ATG13 transcript variant 28 NM_001346332.1:c.746= NM_001346332.1:c.746A>C
ATG13 transcript variant 19 NM_001346323.2:c.746= NM_001346323.2:c.746A>C
ATG13 transcript variant 19 NM_001346323.1:c.746= NM_001346323.1:c.746A>C
ATG13 transcript variant 18 NM_001346322.2:c.746= NM_001346322.2:c.746A>C
ATG13 transcript variant 18 NM_001346322.1:c.746= NM_001346322.1:c.746A>C
ATG13 transcript variant 15 NM_001346319.2:c.746= NM_001346319.2:c.746A>C
ATG13 transcript variant 15 NM_001346319.1:c.746= NM_001346319.1:c.746A>C
ATG13 transcript variant 12 NM_001346316.2:c.746= NM_001346316.2:c.746A>C
ATG13 transcript variant 12 NM_001346316.1:c.746= NM_001346316.1:c.746A>C
ATG13 transcript variant 10 NM_001346314.2:c.746= NM_001346314.2:c.746A>C
ATG13 transcript variant 10 NM_001346314.1:c.746= NM_001346314.1:c.746A>C
ATG13 transcript variant 48 NM_001346357.2:c.161= NM_001346357.2:c.161A>C
ATG13 transcript variant 48 NM_001346357.1:c.161= NM_001346357.1:c.161A>C
ATG13 transcript variant 29 NM_001346333.2:c.746= NM_001346333.2:c.746A>C
ATG13 transcript variant 29 NM_001346333.1:c.746= NM_001346333.1:c.746A>C
ATG13 transcript variant 53 NR_144423.2:n.1153= NR_144423.2:n.1153A>C
ATG13 transcript variant 53 NR_144423.1:n.1430= NR_144423.1:n.1430A>C
ATG13 transcript variant 17 NM_001346321.2:c.746= NM_001346321.2:c.746A>C
ATG13 transcript variant 17 NM_001346321.1:c.746= NM_001346321.1:c.746A>C
ATG13 transcript variant 24 NM_001346328.2:c.746= NM_001346328.2:c.746A>C
ATG13 transcript variant 24 NM_001346328.1:c.746= NM_001346328.1:c.746A>C
ATG13 transcript variant 25 NM_001346329.2:c.746= NM_001346329.2:c.746A>C
ATG13 transcript variant 25 NM_001346329.1:c.746= NM_001346329.1:c.746A>C
ATG13 transcript variant 8 NM_001346312.2:c.746= NM_001346312.2:c.746A>C
ATG13 transcript variant 8 NM_001346312.1:c.746= NM_001346312.1:c.746A>C
ATG13 transcript variant 16 NM_001346320.2:c.746= NM_001346320.2:c.746A>C
ATG13 transcript variant 16 NM_001346320.1:c.746= NM_001346320.1:c.746A>C
ATG13 transcript variant 9 NM_001346313.2:c.746= NM_001346313.2:c.746A>C
ATG13 transcript variant 9 NM_001346313.1:c.746= NM_001346313.1:c.746A>C
ATG13 transcript variant 39 NM_001346348.2:c.746= NM_001346348.2:c.746A>C
ATG13 transcript variant 39 NM_001346348.1:c.746= NM_001346348.1:c.746A>C
ATG13 transcript variant 50 NM_001346359.2:c.161= NM_001346359.2:c.161A>C
ATG13 transcript variant 50 NM_001346359.1:c.161= NM_001346359.1:c.161A>C
ATG13 transcript variant 27 NM_001346331.2:c.746= NM_001346331.2:c.746A>C
ATG13 transcript variant 27 NM_001346331.1:c.746= NM_001346331.1:c.746A>C
ATG13 transcript variant 21 NM_001346325.2:c.746= NM_001346325.2:c.746A>C
ATG13 transcript variant 21 NM_001346325.1:c.746= NM_001346325.1:c.746A>C
ATG13 transcript variant 52 NR_144422.2:n.1153= NR_144422.2:n.1153A>C
ATG13 transcript variant 52 NR_144422.1:n.1430= NR_144422.1:n.1430A>C
ATG13 transcript variant 41 NM_001346350.2:c.746= NM_001346350.2:c.746A>C
ATG13 transcript variant 41 NM_001346350.1:c.746= NM_001346350.1:c.746A>C
ATG13 transcript variant 7 NM_001346311.2:c.746= NM_001346311.2:c.746A>C
ATG13 transcript variant 7 NM_001346311.1:c.746= NM_001346311.1:c.746A>C
ATG13 transcript variant 49 NM_001346358.2:c.161= NM_001346358.2:c.161A>C
ATG13 transcript variant 49 NM_001346358.1:c.161= NM_001346358.1:c.161A>C
ATG13 transcript variant 14 NM_001346318.2:c.746= NM_001346318.2:c.746A>C
ATG13 transcript variant 14 NM_001346318.1:c.746= NM_001346318.1:c.746A>C
ATG13 transcript variant 22 NM_001346326.2:c.746= NM_001346326.2:c.746A>C
ATG13 transcript variant 22 NM_001346326.1:c.746= NM_001346326.1:c.746A>C
ATG13 transcript variant 20 NM_001346324.2:c.746= NM_001346324.2:c.746A>C
ATG13 transcript variant 20 NM_001346324.1:c.746= NM_001346324.1:c.746A>C
ATG13 transcript variant 26 NM_001346330.2:c.746= NM_001346330.2:c.746A>C
ATG13 transcript variant 26 NM_001346330.1:c.746= NM_001346330.1:c.746A>C
ATG13 transcript variant 3 NM_001205119.2:c.746= NM_001205119.2:c.746A>C
ATG13 transcript variant 3 NM_001205119.1:c.746= NM_001205119.1:c.746A>C
ATG13 transcript variant 32 NM_001346336.2:c.746= NM_001346336.2:c.746A>C
ATG13 transcript variant 32 NM_001346336.1:c.746= NM_001346336.1:c.746A>C
ATG13 transcript variant 51 NM_001346360.2:c.161= NM_001346360.2:c.161A>C
ATG13 transcript variant 51 NM_001346360.1:c.161= NM_001346360.1:c.161A>C
ATG13 transcript variant 36 NM_001346342.2:c.746= NM_001346342.2:c.746A>C
ATG13 transcript variant 36 NM_001346342.1:c.746= NM_001346342.1:c.746A>C
ATG13 transcript variant 42 NM_001346351.2:c.746= NM_001346351.2:c.746A>C
ATG13 transcript variant 42 NM_001346351.1:c.746= NM_001346351.1:c.746A>C
ATG13 transcript variant 34 NM_001346338.2:c.746= NM_001346338.2:c.746A>C
ATG13 transcript variant 34 NM_001346338.1:c.746= NM_001346338.1:c.746A>C
ATG13 transcript variant 13 NM_001346317.2:c.746= NM_001346317.2:c.746A>C
ATG13 transcript variant 13 NM_001346317.1:c.746= NM_001346317.1:c.746A>C
ATG13 transcript variant 43 NM_001346352.2:c.746= NM_001346352.2:c.746A>C
ATG13 transcript variant 43 NM_001346352.1:c.746= NM_001346352.1:c.746A>C
ATG13 transcript variant 37 NM_001346344.2:c.746= NM_001346344.2:c.746A>C
ATG13 transcript variant 37 NM_001346344.1:c.746= NM_001346344.1:c.746A>C
ATG13 transcript variant 40 NM_001346349.2:c.746= NM_001346349.2:c.746A>C
ATG13 transcript variant 40 NM_001346349.1:c.746= NM_001346349.1:c.746A>C
ATG13 transcript variant 23 NM_001346327.2:c.746= NM_001346327.2:c.746A>C
ATG13 transcript variant 23 NM_001346327.1:c.746= NM_001346327.1:c.746A>C
ATG13 transcript variant 30 NM_001346334.2:c.746= NM_001346334.2:c.746A>C
ATG13 transcript variant 30 NM_001346334.1:c.746= NM_001346334.1:c.746A>C
ATG13 transcript variant 33 NM_001346337.2:c.746= NM_001346337.2:c.746A>C
ATG13 transcript variant 33 NM_001346337.1:c.746= NM_001346337.1:c.746A>C
ATG13 transcript variant 35 NM_001346340.2:c.746= NM_001346340.2:c.746A>C
ATG13 transcript variant 35 NM_001346340.1:c.746= NM_001346340.1:c.746A>C
ATG13 transcript variant 44 NM_001346353.2:c.746= NM_001346353.2:c.746A>C
ATG13 transcript variant 44 NM_001346353.1:c.746= NM_001346353.1:c.746A>C
ATG13 transcript variant 4 NM_001205120.2:c.746= NM_001205120.2:c.746A>C
ATG13 transcript variant 4 NM_001205120.1:c.746= NM_001205120.1:c.746A>C
ATG13 transcript variant 38 NM_001346346.2:c.746= NM_001346346.2:c.746A>C
ATG13 transcript variant 38 NM_001346346.1:c.746= NM_001346346.1:c.746A>C
ATG13 transcript variant 31 NM_001346335.2:c.746= NM_001346335.2:c.746A>C
ATG13 transcript variant 31 NM_001346335.1:c.746= NM_001346335.1:c.746A>C
ATG13 transcript variant 54 NR_144424.2:n.1153= NR_144424.2:n.1153A>C
ATG13 transcript variant 54 NR_144424.1:n.1430= NR_144424.1:n.1430A>C
ATG13 transcript variant 5 NM_001205121.2:c.746= NM_001205121.2:c.746A>C
ATG13 transcript variant 5 NM_001205121.1:c.746= NM_001205121.1:c.746A>C
ATG13 transcript variant 46 NM_001346355.2:c.746= NM_001346355.2:c.746A>C
ATG13 transcript variant 46 NM_001346355.1:c.746= NM_001346355.1:c.746A>C
ATG13 transcript variant 47 NM_001346356.2:c.746= NM_001346356.2:c.746A>C
ATG13 transcript variant 47 NM_001346356.1:c.746= NM_001346356.1:c.746A>C
ATG13 transcript variant 45 NM_001346354.2:c.746= NM_001346354.2:c.746A>C
ATG13 transcript variant 45 NM_001346354.1:c.746= NM_001346354.1:c.746A>C
ATG13 transcript variant 6 NM_001205122.2:c.509= NM_001205122.2:c.509A>C
ATG13 transcript variant 6 NM_001205122.1:c.509= NM_001205122.1:c.509A>C
ATG13 transcript variant 3 NR_024587.1:n.1374= NR_024587.1:n.1374A>C
ATG13 transcript variant 4 NR_024588.1:n.1374= NR_024588.1:n.1374A>C
ATG13 transcript variant 5 NR_024589.1:n.1425= NR_024589.1:n.1425A>C
autophagy-related protein 13 isoform f NP_055556.2:p.Gln249= NP_055556.2:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001136145.1:p.Gln249= NP_001136145.1:p.Gln249Pro
autophagy-related protein 13 isoform a NP_001333244.1:p.Gln249= NP_001333244.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333261.1:p.Gln249= NP_001333261.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333252.1:p.Gln249= NP_001333252.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333251.1:p.Gln249= NP_001333251.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333248.1:p.Gln249= NP_001333248.1:p.Gln249Pro
autophagy-related protein 13 isoform a NP_001333245.1:p.Gln249= NP_001333245.1:p.Gln249Pro
autophagy-related protein 13 isoform a NP_001333243.1:p.Gln249= NP_001333243.1:p.Gln249Pro
autophagy-related protein 13 isoform i NP_001333286.1:p.Gln54= NP_001333286.1:p.Gln54Pro
autophagy-related protein 13 isoform d NP_001333262.1:p.Gln249= NP_001333262.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333250.1:p.Gln249= NP_001333250.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333257.1:p.Gln249= NP_001333257.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333258.1:p.Gln249= NP_001333258.1:p.Gln249Pro
autophagy-related protein 13 isoform a NP_001333241.1:p.Gln249= NP_001333241.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333249.1:p.Gln249= NP_001333249.1:p.Gln249Pro
autophagy-related protein 13 isoform a NP_001333242.1:p.Gln249= NP_001333242.1:p.Gln249Pro
autophagy-related protein 13 isoform f NP_001333277.1:p.Gln249= NP_001333277.1:p.Gln249Pro
autophagy-related protein 13 isoform i NP_001333288.1:p.Gln54= NP_001333288.1:p.Gln54Pro
autophagy-related protein 13 isoform c NP_001333260.1:p.Gln249= NP_001333260.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333254.1:p.Gln249= NP_001333254.1:p.Gln249Pro
autophagy-related protein 13 isoform f NP_001333279.1:p.Gln249= NP_001333279.1:p.Gln249Pro
autophagy-related protein 13 isoform a NP_001333240.1:p.Gln249= NP_001333240.1:p.Gln249Pro
autophagy-related protein 13 isoform i NP_001333287.1:p.Gln54= NP_001333287.1:p.Gln54Pro
autophagy-related protein 13 isoform b NP_001333247.1:p.Gln249= NP_001333247.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333255.1:p.Gln249= NP_001333255.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333253.1:p.Gln249= NP_001333253.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333259.1:p.Gln249= NP_001333259.1:p.Gln249Pro
autophagy-related protein 13 isoform a NP_001192048.1:p.Gln249= NP_001192048.1:p.Gln249Pro
autophagy-related protein 13 isoform d NP_001333265.1:p.Gln249= NP_001333265.1:p.Gln249Pro
autophagy-related protein 13 isoform j NP_001333289.1:p.Gln54= NP_001333289.1:p.Gln54Pro
autophagy-related protein 13 isoform f NP_001333271.1:p.Gln249= NP_001333271.1:p.Gln249Pro
autophagy-related protein 13 isoform f NP_001333280.1:p.Gln249= NP_001333280.1:p.Gln249Pro
autophagy-related protein 13 isoform e NP_001333267.1:p.Gln249= NP_001333267.1:p.Gln249Pro
autophagy-related protein 13 isoform b NP_001333246.1:p.Gln249= NP_001333246.1:p.Gln249Pro
autophagy-related protein 13 isoform f NP_001333281.1:p.Gln249= NP_001333281.1:p.Gln249Pro
autophagy-related protein 13 isoform f NP_001333273.1:p.Gln249= NP_001333273.1:p.Gln249Pro
autophagy-related protein 13 isoform f NP_001333278.1:p.Gln249= NP_001333278.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001333256.1:p.Gln249= NP_001333256.1:p.Gln249Pro
autophagy-related protein 13 isoform d NP_001333263.1:p.Gln249= NP_001333263.1:p.Gln249Pro
autophagy-related protein 13 isoform d NP_001333266.1:p.Gln249= NP_001333266.1:p.Gln249Pro
autophagy-related protein 13 isoform e NP_001333269.1:p.Gln249= NP_001333269.1:p.Gln249Pro
autophagy-related protein 13 isoform f NP_001333282.1:p.Gln249= NP_001333282.1:p.Gln249Pro
autophagy-related protein 13 isoform c NP_001192049.1:p.Gln249= NP_001192049.1:p.Gln249Pro
autophagy-related protein 13 isoform f NP_001333275.1:p.Gln249= NP_001333275.1:p.Gln249Pro
autophagy-related protein 13 isoform d NP_001333264.1:p.Gln249= NP_001333264.1:p.Gln249Pro
autophagy-related protein 13 isoform f NP_001192050.1:p.Gln249= NP_001192050.1:p.Gln249Pro
autophagy-related protein 13 isoform g NP_001333284.1:p.Gln249= NP_001333284.1:p.Gln249Pro
autophagy-related protein 13 isoform g NP_001333285.1:p.Gln249= NP_001333285.1:p.Gln249Pro
autophagy-related protein 13 isoform f NP_001333283.1:p.Gln249= NP_001333283.1:p.Gln249Pro
autophagy-related protein 13 isoform h NP_001192051.1:p.Gln170= NP_001192051.1:p.Gln170Pro
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#.

32 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 EXOME_CHIP ss491449467 May 04, 2012 (137)
2 CLINSEQ_SNP ss491642971 May 04, 2012 (137)
3 NHLBI-ESP ss713012522 Apr 25, 2013 (138)
4 ILLUMINA ss780896982 Aug 21, 2014 (142)
5 ILLUMINA ss783583769 Aug 21, 2014 (142)
6 EVA_EXAC ss1690338817 Apr 01, 2015 (144)
7 ILLUMINA ss1752018785 Sep 08, 2015 (146)
8 ILLUMINA ss1917858620 Feb 12, 2016 (147)
9 ILLUMINA ss1946308742 Feb 12, 2016 (147)
10 ILLUMINA ss1959345854 Feb 12, 2016 (147)
11 HUMAN_LONGEVITY ss2182322572 Dec 20, 2016 (150)
12 GNOMAD ss2738925586 Nov 08, 2017 (151)
13 GNOMAD ss2748599498 Nov 08, 2017 (151)
14 GNOMAD ss2899231833 Nov 08, 2017 (151)
15 AFFY ss2984940998 Nov 08, 2017 (151)
16 ILLUMINA ss3021331926 Nov 08, 2017 (151)
17 ILLUMINA ss3626655568 Oct 12, 2018 (152)
18 ILLUMINA ss3634453003 Oct 12, 2018 (152)
19 ILLUMINA ss3640160342 Oct 12, 2018 (152)
20 ILLUMINA ss3644561577 Oct 12, 2018 (152)
21 ILLUMINA ss3651695678 Oct 12, 2018 (152)
22 ILLUMINA ss3653713222 Oct 12, 2018 (152)
23 EGCUT_WGS ss3675428623 Jul 13, 2019 (153)
24 ILLUMINA ss3725238090 Jul 13, 2019 (153)
25 ILLUMINA ss3744379248 Jul 13, 2019 (153)
26 ILLUMINA ss3744753873 Jul 13, 2019 (153)
27 PAGE_CC ss3771622440 Jul 13, 2019 (153)
28 ILLUMINA ss3772253887 Jul 13, 2019 (153)
29 EVA ss3824610423 Apr 26, 2020 (154)
30 TOPMED ss4884206997 Apr 27, 2021 (155)
31 EVA ss5847631021 Oct 16, 2022 (156)
32 EVA ss5942478680 Oct 16, 2022 (156)
33 Genetic variation in the Estonian population NC_000011.9 - 46680992 Oct 12, 2018 (152)
34 ExAC NC_000011.9 - 46680992 Oct 12, 2018 (152)
35 gnomAD - Genomes NC_000011.10 - 46659442 Apr 27, 2021 (155)
36 gnomAD - Exomes NC_000011.9 - 46680992 Jul 13, 2019 (153)
37 GO Exome Sequencing Project NC_000011.9 - 46680992 Oct 12, 2018 (152)
38 The PAGE Study NC_000011.10 - 46659442 Jul 13, 2019 (153)
39 TopMed NC_000011.10 - 46659442 Apr 27, 2021 (155)
40 ALFA NC_000011.10 - 46659442 Apr 27, 2021 (155)
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
ss491642971 NC_000011.8:46637567:A:C NC_000011.10:46659441:A:C (self)
21166871, 592813, 8137995, 1068019, ss491449467, ss713012522, ss780896982, ss783583769, ss1690338817, ss1752018785, ss1917858620, ss1946308742, ss1959345854, ss2738925586, ss2748599498, ss2899231833, ss2984940998, ss3021331926, ss3626655568, ss3634453003, ss3640160342, ss3644561577, ss3651695678, ss3653713222, ss3675428623, ss3744379248, ss3744753873, ss3772253887, ss3824610423, ss5847631021, ss5942478680 NC_000011.9:46680991:A:C NC_000011.10:46659441:A:C (self)
378783178, 843909, 99752653, 8026420771, ss2182322572, ss3725238090, ss3771622440, ss4884206997 NC_000011.10:46659441:A:C NC_000011.10:46659441:A:C (self)
Help

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

No publications for rs201229909

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

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.post761+d5e8e07