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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.

rs778394445

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:46668510 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000026 (7/264690, TOPMED)
A=0.000024 (6/251470, GnomAD_exome)
A=0.000021 (3/140276, GnomAD) (+ 4 more)
A=0.000033 (4/121394, ExAC)
A=0.00003 (1/35432, ALFA)
A=0.00004 (1/28258, 14KJPN)
A=0.00006 (1/16758, 8.3KJPN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATG13 : Synonymous 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 51794 G=0.99996 A=0.00004
European Sub 36678 G=0.99995 A=0.00005
African Sub 7756 G=1.0000 A=0.0000
African Others Sub 298 G=1.000 A=0.000
African American Sub 7458 G=1.0000 A=0.0000
Asian Sub 112 G=1.000 A=0.000
East Asian Sub 86 G=1.00 A=0.00
Other Asian Sub 26 G=1.00 A=0.00
Latin American 1 Sub 500 G=1.000 A=0.000
Latin American 2 Sub 628 G=1.000 A=0.000
South Asian Sub 98 G=1.00 A=0.00
Other Sub 6022 G=1.0000 A=0.0000


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 G=0.999974 A=0.000026
gnomAD - Exomes Global Study-wide 251470 G=0.999976 A=0.000024
gnomAD - Exomes European Sub 135394 G=0.999956 A=0.000044
gnomAD - Exomes Asian Sub 49008 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34592 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16256 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6140 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140276 G=0.999979 A=0.000021
gnomAD - Genomes European Sub 75954 G=0.99996 A=0.00004
gnomAD - Genomes African Sub 42050 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13662 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=1.0000 A=0.0000
ExAC Global Study-wide 121394 G=0.999967 A=0.000033
ExAC Europe Sub 73340 G=0.99995 A=0.00005
ExAC Asian Sub 25164 G=1.00000 A=0.00000
ExAC American Sub 11576 G=1.00000 A=0.00000
ExAC African Sub 10406 G=1.00000 A=0.00000
ExAC Other Sub 908 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 35432 G=0.99997 A=0.00003
Allele Frequency Aggregator European Sub 26588 G=0.99996 A=0.00004
Allele Frequency Aggregator Other Sub 4588 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2918 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00
14KJPN JAPANESE Study-wide 28258 G=0.99996 A=0.00004
8.3KJPN JAPANESE Study-wide 16758 G=0.99994 A=0.00006
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.46668510G>A
GRCh37.p13 chr 11 NC_000011.9:g.46690060G>A
ATG13 RefSeqGene NG_051811.1:g.56235G>A
Gene: ATG13, autophagy related 13 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATG13 transcript variant 7 NM_001346311.2:c.1263G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001333240.1:p.Thr421= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 20 NM_001346324.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333253.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 27 NM_001346331.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333260.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 31 NM_001346335.2:c.1137G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform d NP_001333264.1:p.Thr379= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 34 NM_001346338.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform e NP_001333267.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 22 NM_001346326.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333255.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 28 NM_001346332.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333261.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 4 NM_001205120.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001192049.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 13 NM_001346317.2:c.1236G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform b NP_001333246.1:p.Thr412= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 30 NM_001346334.2:c.1137G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform d NP_001333263.1:p.Thr379= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 48 NM_001346357.2:c.579G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform i NP_001333286.1:p.Thr193= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 16 NM_001346320.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333249.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 10 NM_001346314.2:c.1263G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001333243.1:p.Thr421= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 24 NM_001346328.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333257.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 29 NM_001346333.2:c.1137G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform d NP_001333262.1:p.Thr379= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 23 NM_001346327.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333256.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 5 NM_001205121.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001192050.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 8 NM_001346312.2:c.1263G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001333241.1:p.Thr421= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 21 NM_001346325.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333254.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 40 NM_001346349.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333278.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 12 NM_001346316.2:c.1263G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001333245.1:p.Thr421= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 39 NM_001346348.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333277.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 33 NM_001346337.2:c.1137G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform d NP_001333266.1:p.Thr379= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 44 NM_001346353.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333282.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 1 NM_001142673.3:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001136145.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 11 NM_001346315.2:c.1263G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001333244.1:p.Thr421= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 42 NM_001346351.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333280.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 9 NM_001346313.2:c.1263G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001333242.1:p.Thr421= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 49 NM_001346358.2:c.579G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform i NP_001333287.1:p.Thr193= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 45 NM_001346354.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333283.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 18 NM_001346322.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333251.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 38 NM_001346346.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333275.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 47 NM_001346356.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform g NP_001333285.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 3 NM_001205119.2:c.1263G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform a NP_001192048.1:p.Thr421= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 43 NM_001346352.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333281.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 37 NM_001346344.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333273.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 50 NM_001346359.2:c.579G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform i NP_001333288.1:p.Thr193= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 41 NM_001346350.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333279.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 14 NM_001346318.2:c.1236G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform b NP_001333247.1:p.Thr412= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 26 NM_001346330.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333259.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 32 NM_001346336.2:c.1137G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform d NP_001333265.1:p.Thr379= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 46 NM_001346355.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform g NP_001333284.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 36 NM_001346342.2:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_001333271.1:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 15 NM_001346319.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333248.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 35 NM_001346340.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform e NP_001333269.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 51 NM_001346360.2:c.468G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform j NP_001333289.1:p.Thr156= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 25 NM_001346329.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333258.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 2 NM_014741.5:c.1053G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform f NP_055556.2:p.Thr351= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 6 NM_001205122.2:c.816G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform h NP_001192051.1:p.Thr272= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 19 NM_001346323.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333252.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 17 NM_001346321.2:c.1164G>A T [ACG] > T [ACA] Coding Sequence Variant
autophagy-related protein 13 isoform c NP_001333250.1:p.Thr388= T (Thr) > T (Thr) Synonymous Variant
ATG13 transcript variant 53 NR_144423.2:n.1643G>A N/A Non Coding Transcript Variant
ATG13 transcript variant 54 NR_144424.2:n.1456G>A N/A Non Coding Transcript Variant
ATG13 transcript variant 52 NR_144422.2:n.1571G>A 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 G= A
GRCh38.p14 chr 11 NC_000011.10:g.46668510= NC_000011.10:g.46668510G>A
GRCh37.p13 chr 11 NC_000011.9:g.46690060= NC_000011.9:g.46690060G>A
ATG13 RefSeqGene NG_051811.1:g.56235= NG_051811.1:g.56235G>A
ATG13 transcript variant 2 NM_014741.5:c.1053= NM_014741.5:c.1053G>A
ATG13 transcript variant 2 NM_014741.4:c.1053= NM_014741.4:c.1053G>A
ATG13 transcript variant 1 NM_001142673.3:c.1164= NM_001142673.3:c.1164G>A
ATG13 transcript variant 1 NM_001142673.2:c.1164= NM_001142673.2:c.1164G>A
ATG13 transcript variant 11 NM_001346315.2:c.1263= NM_001346315.2:c.1263G>A
ATG13 transcript variant 11 NM_001346315.1:c.1263= NM_001346315.1:c.1263G>A
ATG13 transcript variant 28 NM_001346332.2:c.1164= NM_001346332.2:c.1164G>A
ATG13 transcript variant 28 NM_001346332.1:c.1164= NM_001346332.1:c.1164G>A
ATG13 transcript variant 19 NM_001346323.2:c.1164= NM_001346323.2:c.1164G>A
ATG13 transcript variant 19 NM_001346323.1:c.1164= NM_001346323.1:c.1164G>A
ATG13 transcript variant 18 NM_001346322.2:c.1164= NM_001346322.2:c.1164G>A
ATG13 transcript variant 18 NM_001346322.1:c.1164= NM_001346322.1:c.1164G>A
ATG13 transcript variant 15 NM_001346319.2:c.1164= NM_001346319.2:c.1164G>A
ATG13 transcript variant 15 NM_001346319.1:c.1164= NM_001346319.1:c.1164G>A
ATG13 transcript variant 12 NM_001346316.2:c.1263= NM_001346316.2:c.1263G>A
ATG13 transcript variant 12 NM_001346316.1:c.1263= NM_001346316.1:c.1263G>A
ATG13 transcript variant 10 NM_001346314.2:c.1263= NM_001346314.2:c.1263G>A
ATG13 transcript variant 10 NM_001346314.1:c.1263= NM_001346314.1:c.1263G>A
ATG13 transcript variant 48 NM_001346357.2:c.579= NM_001346357.2:c.579G>A
ATG13 transcript variant 48 NM_001346357.1:c.579= NM_001346357.1:c.579G>A
ATG13 transcript variant 29 NM_001346333.2:c.1137= NM_001346333.2:c.1137G>A
ATG13 transcript variant 29 NM_001346333.1:c.1137= NM_001346333.1:c.1137G>A
ATG13 transcript variant 53 NR_144423.2:n.1643= NR_144423.2:n.1643G>A
ATG13 transcript variant 53 NR_144423.1:n.1920= NR_144423.1:n.1920G>A
ATG13 transcript variant 17 NM_001346321.2:c.1164= NM_001346321.2:c.1164G>A
ATG13 transcript variant 17 NM_001346321.1:c.1164= NM_001346321.1:c.1164G>A
ATG13 transcript variant 24 NM_001346328.2:c.1164= NM_001346328.2:c.1164G>A
ATG13 transcript variant 24 NM_001346328.1:c.1164= NM_001346328.1:c.1164G>A
ATG13 transcript variant 25 NM_001346329.2:c.1164= NM_001346329.2:c.1164G>A
ATG13 transcript variant 25 NM_001346329.1:c.1164= NM_001346329.1:c.1164G>A
ATG13 transcript variant 8 NM_001346312.2:c.1263= NM_001346312.2:c.1263G>A
ATG13 transcript variant 8 NM_001346312.1:c.1263= NM_001346312.1:c.1263G>A
ATG13 transcript variant 16 NM_001346320.2:c.1164= NM_001346320.2:c.1164G>A
ATG13 transcript variant 16 NM_001346320.1:c.1164= NM_001346320.1:c.1164G>A
ATG13 transcript variant 9 NM_001346313.2:c.1263= NM_001346313.2:c.1263G>A
ATG13 transcript variant 9 NM_001346313.1:c.1263= NM_001346313.1:c.1263G>A
ATG13 transcript variant 39 NM_001346348.2:c.1053= NM_001346348.2:c.1053G>A
ATG13 transcript variant 39 NM_001346348.1:c.1053= NM_001346348.1:c.1053G>A
ATG13 transcript variant 50 NM_001346359.2:c.579= NM_001346359.2:c.579G>A
ATG13 transcript variant 50 NM_001346359.1:c.579= NM_001346359.1:c.579G>A
ATG13 transcript variant 27 NM_001346331.2:c.1164= NM_001346331.2:c.1164G>A
ATG13 transcript variant 27 NM_001346331.1:c.1164= NM_001346331.1:c.1164G>A
ATG13 transcript variant 21 NM_001346325.2:c.1164= NM_001346325.2:c.1164G>A
ATG13 transcript variant 21 NM_001346325.1:c.1164= NM_001346325.1:c.1164G>A
ATG13 transcript variant 52 NR_144422.2:n.1571= NR_144422.2:n.1571G>A
ATG13 transcript variant 52 NR_144422.1:n.1848= NR_144422.1:n.1848G>A
ATG13 transcript variant 41 NM_001346350.2:c.1053= NM_001346350.2:c.1053G>A
ATG13 transcript variant 41 NM_001346350.1:c.1053= NM_001346350.1:c.1053G>A
ATG13 transcript variant 7 NM_001346311.2:c.1263= NM_001346311.2:c.1263G>A
ATG13 transcript variant 7 NM_001346311.1:c.1263= NM_001346311.1:c.1263G>A
ATG13 transcript variant 49 NM_001346358.2:c.579= NM_001346358.2:c.579G>A
ATG13 transcript variant 49 NM_001346358.1:c.579= NM_001346358.1:c.579G>A
ATG13 transcript variant 14 NM_001346318.2:c.1236= NM_001346318.2:c.1236G>A
ATG13 transcript variant 14 NM_001346318.1:c.1236= NM_001346318.1:c.1236G>A
ATG13 transcript variant 22 NM_001346326.2:c.1164= NM_001346326.2:c.1164G>A
ATG13 transcript variant 22 NM_001346326.1:c.1164= NM_001346326.1:c.1164G>A
ATG13 transcript variant 20 NM_001346324.2:c.1164= NM_001346324.2:c.1164G>A
ATG13 transcript variant 20 NM_001346324.1:c.1164= NM_001346324.1:c.1164G>A
ATG13 transcript variant 26 NM_001346330.2:c.1164= NM_001346330.2:c.1164G>A
ATG13 transcript variant 26 NM_001346330.1:c.1164= NM_001346330.1:c.1164G>A
ATG13 transcript variant 3 NM_001205119.2:c.1263= NM_001205119.2:c.1263G>A
ATG13 transcript variant 3 NM_001205119.1:c.1263= NM_001205119.1:c.1263G>A
ATG13 transcript variant 32 NM_001346336.2:c.1137= NM_001346336.2:c.1137G>A
ATG13 transcript variant 32 NM_001346336.1:c.1137= NM_001346336.1:c.1137G>A
ATG13 transcript variant 51 NM_001346360.2:c.468= NM_001346360.2:c.468G>A
ATG13 transcript variant 51 NM_001346360.1:c.468= NM_001346360.1:c.468G>A
ATG13 transcript variant 36 NM_001346342.2:c.1053= NM_001346342.2:c.1053G>A
ATG13 transcript variant 36 NM_001346342.1:c.1053= NM_001346342.1:c.1053G>A
ATG13 transcript variant 42 NM_001346351.2:c.1053= NM_001346351.2:c.1053G>A
ATG13 transcript variant 42 NM_001346351.1:c.1053= NM_001346351.1:c.1053G>A
ATG13 transcript variant 34 NM_001346338.2:c.1164= NM_001346338.2:c.1164G>A
ATG13 transcript variant 34 NM_001346338.1:c.1164= NM_001346338.1:c.1164G>A
ATG13 transcript variant 13 NM_001346317.2:c.1236= NM_001346317.2:c.1236G>A
ATG13 transcript variant 13 NM_001346317.1:c.1236= NM_001346317.1:c.1236G>A
ATG13 transcript variant 43 NM_001346352.2:c.1053= NM_001346352.2:c.1053G>A
ATG13 transcript variant 43 NM_001346352.1:c.1053= NM_001346352.1:c.1053G>A
ATG13 transcript variant 37 NM_001346344.2:c.1053= NM_001346344.2:c.1053G>A
ATG13 transcript variant 37 NM_001346344.1:c.1053= NM_001346344.1:c.1053G>A
ATG13 transcript variant 40 NM_001346349.2:c.1053= NM_001346349.2:c.1053G>A
ATG13 transcript variant 40 NM_001346349.1:c.1053= NM_001346349.1:c.1053G>A
ATG13 transcript variant 23 NM_001346327.2:c.1164= NM_001346327.2:c.1164G>A
ATG13 transcript variant 23 NM_001346327.1:c.1164= NM_001346327.1:c.1164G>A
ATG13 transcript variant 30 NM_001346334.2:c.1137= NM_001346334.2:c.1137G>A
ATG13 transcript variant 30 NM_001346334.1:c.1137= NM_001346334.1:c.1137G>A
ATG13 transcript variant 33 NM_001346337.2:c.1137= NM_001346337.2:c.1137G>A
ATG13 transcript variant 33 NM_001346337.1:c.1137= NM_001346337.1:c.1137G>A
ATG13 transcript variant 35 NM_001346340.2:c.1164= NM_001346340.2:c.1164G>A
ATG13 transcript variant 35 NM_001346340.1:c.1164= NM_001346340.1:c.1164G>A
ATG13 transcript variant 44 NM_001346353.2:c.1053= NM_001346353.2:c.1053G>A
ATG13 transcript variant 44 NM_001346353.1:c.1053= NM_001346353.1:c.1053G>A
ATG13 transcript variant 4 NM_001205120.2:c.1164= NM_001205120.2:c.1164G>A
ATG13 transcript variant 4 NM_001205120.1:c.1164= NM_001205120.1:c.1164G>A
ATG13 transcript variant 38 NM_001346346.2:c.1053= NM_001346346.2:c.1053G>A
ATG13 transcript variant 38 NM_001346346.1:c.1053= NM_001346346.1:c.1053G>A
ATG13 transcript variant 31 NM_001346335.2:c.1137= NM_001346335.2:c.1137G>A
ATG13 transcript variant 31 NM_001346335.1:c.1137= NM_001346335.1:c.1137G>A
ATG13 transcript variant 54 NR_144424.2:n.1456= NR_144424.2:n.1456G>A
ATG13 transcript variant 54 NR_144424.1:n.1733= NR_144424.1:n.1733G>A
ATG13 transcript variant 5 NM_001205121.2:c.1053= NM_001205121.2:c.1053G>A
ATG13 transcript variant 5 NM_001205121.1:c.1053= NM_001205121.1:c.1053G>A
ATG13 transcript variant 46 NM_001346355.2:c.1053= NM_001346355.2:c.1053G>A
ATG13 transcript variant 46 NM_001346355.1:c.1053= NM_001346355.1:c.1053G>A
ATG13 transcript variant 47 NM_001346356.2:c.1053= NM_001346356.2:c.1053G>A
ATG13 transcript variant 47 NM_001346356.1:c.1053= NM_001346356.1:c.1053G>A
ATG13 transcript variant 45 NM_001346354.2:c.1053= NM_001346354.2:c.1053G>A
ATG13 transcript variant 45 NM_001346354.1:c.1053= NM_001346354.1:c.1053G>A
ATG13 transcript variant 6 NM_001205122.2:c.816= NM_001205122.2:c.816G>A
ATG13 transcript variant 6 NM_001205122.1:c.816= NM_001205122.1:c.816G>A
ATG13 transcript variant 3 NR_024587.1:n.1891= NR_024587.1:n.1891G>A
ATG13 transcript variant 4 NR_024588.1:n.1792= NR_024588.1:n.1792G>A
ATG13 transcript variant 5 NR_024589.1:n.1732= NR_024589.1:n.1732G>A
autophagy-related protein 13 isoform f NP_055556.2:p.Thr351= NP_055556.2:p.Thr351=
autophagy-related protein 13 isoform c NP_001136145.1:p.Thr388= NP_001136145.1:p.Thr388=
autophagy-related protein 13 isoform a NP_001333244.1:p.Thr421= NP_001333244.1:p.Thr421=
autophagy-related protein 13 isoform c NP_001333261.1:p.Thr388= NP_001333261.1:p.Thr388=
autophagy-related protein 13 isoform c NP_001333252.1:p.Thr388= NP_001333252.1:p.Thr388=
autophagy-related protein 13 isoform c NP_001333251.1:p.Thr388= NP_001333251.1:p.Thr388=
autophagy-related protein 13 isoform c NP_001333248.1:p.Thr388= NP_001333248.1:p.Thr388=
autophagy-related protein 13 isoform a NP_001333245.1:p.Thr421= NP_001333245.1:p.Thr421=
autophagy-related protein 13 isoform a NP_001333243.1:p.Thr421= NP_001333243.1:p.Thr421=
autophagy-related protein 13 isoform i NP_001333286.1:p.Thr193= NP_001333286.1:p.Thr193=
autophagy-related protein 13 isoform d NP_001333262.1:p.Thr379= NP_001333262.1:p.Thr379=
autophagy-related protein 13 isoform c NP_001333250.1:p.Thr388= NP_001333250.1:p.Thr388=
autophagy-related protein 13 isoform c NP_001333257.1:p.Thr388= NP_001333257.1:p.Thr388=
autophagy-related protein 13 isoform c NP_001333258.1:p.Thr388= NP_001333258.1:p.Thr388=
autophagy-related protein 13 isoform a NP_001333241.1:p.Thr421= NP_001333241.1:p.Thr421=
autophagy-related protein 13 isoform c NP_001333249.1:p.Thr388= NP_001333249.1:p.Thr388=
autophagy-related protein 13 isoform a NP_001333242.1:p.Thr421= NP_001333242.1:p.Thr421=
autophagy-related protein 13 isoform f NP_001333277.1:p.Thr351= NP_001333277.1:p.Thr351=
autophagy-related protein 13 isoform i NP_001333288.1:p.Thr193= NP_001333288.1:p.Thr193=
autophagy-related protein 13 isoform c NP_001333260.1:p.Thr388= NP_001333260.1:p.Thr388=
autophagy-related protein 13 isoform c NP_001333254.1:p.Thr388= NP_001333254.1:p.Thr388=
autophagy-related protein 13 isoform f NP_001333279.1:p.Thr351= NP_001333279.1:p.Thr351=
autophagy-related protein 13 isoform a NP_001333240.1:p.Thr421= NP_001333240.1:p.Thr421=
autophagy-related protein 13 isoform i NP_001333287.1:p.Thr193= NP_001333287.1:p.Thr193=
autophagy-related protein 13 isoform b NP_001333247.1:p.Thr412= NP_001333247.1:p.Thr412=
autophagy-related protein 13 isoform c NP_001333255.1:p.Thr388= NP_001333255.1:p.Thr388=
autophagy-related protein 13 isoform c NP_001333253.1:p.Thr388= NP_001333253.1:p.Thr388=
autophagy-related protein 13 isoform c NP_001333259.1:p.Thr388= NP_001333259.1:p.Thr388=
autophagy-related protein 13 isoform a NP_001192048.1:p.Thr421= NP_001192048.1:p.Thr421=
autophagy-related protein 13 isoform d NP_001333265.1:p.Thr379= NP_001333265.1:p.Thr379=
autophagy-related protein 13 isoform j NP_001333289.1:p.Thr156= NP_001333289.1:p.Thr156=
autophagy-related protein 13 isoform f NP_001333271.1:p.Thr351= NP_001333271.1:p.Thr351=
autophagy-related protein 13 isoform f NP_001333280.1:p.Thr351= NP_001333280.1:p.Thr351=
autophagy-related protein 13 isoform e NP_001333267.1:p.Thr388= NP_001333267.1:p.Thr388=
autophagy-related protein 13 isoform b NP_001333246.1:p.Thr412= NP_001333246.1:p.Thr412=
autophagy-related protein 13 isoform f NP_001333281.1:p.Thr351= NP_001333281.1:p.Thr351=
autophagy-related protein 13 isoform f NP_001333273.1:p.Thr351= NP_001333273.1:p.Thr351=
autophagy-related protein 13 isoform f NP_001333278.1:p.Thr351= NP_001333278.1:p.Thr351=
autophagy-related protein 13 isoform c NP_001333256.1:p.Thr388= NP_001333256.1:p.Thr388=
autophagy-related protein 13 isoform d NP_001333263.1:p.Thr379= NP_001333263.1:p.Thr379=
autophagy-related protein 13 isoform d NP_001333266.1:p.Thr379= NP_001333266.1:p.Thr379=
autophagy-related protein 13 isoform e NP_001333269.1:p.Thr388= NP_001333269.1:p.Thr388=
autophagy-related protein 13 isoform f NP_001333282.1:p.Thr351= NP_001333282.1:p.Thr351=
autophagy-related protein 13 isoform c NP_001192049.1:p.Thr388= NP_001192049.1:p.Thr388=
autophagy-related protein 13 isoform f NP_001333275.1:p.Thr351= NP_001333275.1:p.Thr351=
autophagy-related protein 13 isoform d NP_001333264.1:p.Thr379= NP_001333264.1:p.Thr379=
autophagy-related protein 13 isoform f NP_001192050.1:p.Thr351= NP_001192050.1:p.Thr351=
autophagy-related protein 13 isoform g NP_001333284.1:p.Thr351= NP_001333284.1:p.Thr351=
autophagy-related protein 13 isoform g NP_001333285.1:p.Thr351= NP_001333285.1:p.Thr351=
autophagy-related protein 13 isoform f NP_001333283.1:p.Thr351= NP_001333283.1:p.Thr351=
autophagy-related protein 13 isoform h NP_001192051.1:p.Thr272= NP_001192051.1:p.Thr272=
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#.

7 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1690339011 Apr 01, 2015 (144)
2 HUMAN_LONGEVITY ss2182323069 Dec 20, 2016 (150)
3 GNOMAD ss2738925846 Nov 08, 2017 (151)
4 GNOMAD ss4234518453 Apr 27, 2021 (155)
5 TOPMED ss4884209206 Apr 27, 2021 (155)
6 TOMMO_GENOMICS ss5201830187 Apr 27, 2021 (155)
7 TOMMO_GENOMICS ss5748909159 Oct 16, 2022 (156)
8 ExAC NC_000011.9 - 46690060 Oct 12, 2018 (152)
9 gnomAD - Genomes NC_000011.10 - 46668510 Apr 27, 2021 (155)
10 gnomAD - Exomes NC_000011.9 - 46690060 Jul 13, 2019 (153)
11 8.3KJPN NC_000011.9 - 46690060 Apr 27, 2021 (155)
12 14KJPN NC_000011.10 - 46668510 Oct 16, 2022 (156)
13 TopMed NC_000011.10 - 46668510 Apr 27, 2021 (155)
14 ALFA NC_000011.10 - 46668510 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
593031, 8138292, 59799494, ss1690339011, ss2738925846, ss5201830187 NC_000011.9:46690059:G:A NC_000011.10:46668509:G:A (self)
378785026, 82746263, 99754862, 10763399547, ss2182323069, ss4234518453, ss4884209206, ss5748909159 NC_000011.10:46668509:G:A NC_000011.10:46668509:G:A (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 rs778394445

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