Name: rs36100546
Published: September 21, 2022
License: Open Access

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.

rs36100546

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:11409776-11409789 (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: del(T)₄ / delTT / delT / dupT / du…
del(T)₄ / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / ins(T)₇G(T)₁₉
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.3196 (2007/6280, ALFA)
(T)₁₄=0.4924 (2466/5008, 1000G)
(T)₁₄=0.3804 (1466/3854, ALSPAC) (+ 2 more)
(T)₁₄=0.3867 (1434/3708, TWINSUK)
(T)₁₄=0.40 (16/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ATG7 : Intron 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	6280	TTTTTTTTTTTTTT=0.6769	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0010, TTTTTTTTTTTTTTT=0.3196, TTTTTTTTTTTTTTTT=0.0025, TTTTTTTTTTTTTTTTT=0.0000	0.556268	0.195896	0.247836	32
European	Sub	5538	TTTTTTTTTTTTTT=0.6343	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0011, TTTTTTTTTTTTTTT=0.3617, TTTTTTTTTTTTTTTT=0.0029, TTTTTTTTTTTTTTTTT=0.0000	0.497453	0.22198	0.280568	32
African	Sub	378	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	8	TTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	370	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	10	TTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	10	TTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	32	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	206	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	26	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	90	TTTTTTTTTTTTTT=0.96	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.04, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	0.933333	0.022222	0.044444	6

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	6280	(T)₁₄=0.6769	delTT=0.0000, delT=0.0010, dupT=0.3196, dupTT=0.0025, dupTTT=0.0000
Allele Frequency Aggregator	European	Sub	5538	(T)₁₄=0.6343	delTT=0.0000, delT=0.0011, dupT=0.3617, dupTT=0.0029, dupTTT=0.0000
Allele Frequency Aggregator	African	Sub	378	(T)₁₄=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	206	(T)₁₄=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	90	(T)₁₄=0.96	delTT=0.00, delT=0.00, dupT=0.04, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	32	(T)₁₄=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	26	(T)₁₄=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Asian	Sub	10	(T)₁₄=1.0	delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.5076
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.4675
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.6101
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.5457
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.485
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.412
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupT=0.6196
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupT=0.6133
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.60

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 3	NC_000003.12:g.11409786_11409789del
GRCh38.p14 chr 3	NC_000003.12:g.11409788_11409789del
GRCh38.p14 chr 3	NC_000003.12:g.11409789del
GRCh38.p14 chr 3	NC_000003.12:g.11409789dup
GRCh38.p14 chr 3	NC_000003.12:g.11409788_11409789dup
GRCh38.p14 chr 3	NC_000003.12:g.11409787_11409789dup
GRCh38.p14 chr 3	NC_000003.12:g.11409786_11409789dup
GRCh38.p14 chr 3	NC_000003.12:g.11409776_11409789T[21]GTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 3	NC_000003.11:g.11451260_11451263del
GRCh37.p13 chr 3	NC_000003.11:g.11451262_11451263del
GRCh37.p13 chr 3	NC_000003.11:g.11451263del
GRCh37.p13 chr 3	NC_000003.11:g.11451263dup
GRCh37.p13 chr 3	NC_000003.11:g.11451262_11451263dup
GRCh37.p13 chr 3	NC_000003.11:g.11451261_11451263dup
GRCh37.p13 chr 3	NC_000003.11:g.11451260_11451263dup
GRCh37.p13 chr 3	NC_000003.11:g.11451250_11451263T[21]GTTTTTTTTTTTTTTTTTTT[1]

Gene: ATG7, autophagy related 7 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATG7 transcript variant 2	NM_001136031.3:c.1876-170… NM_001136031.3:c.1876-17018_1876-17015del	N/A	Intron Variant
ATG7 transcript variant 3	NM_001144912.2:c.1839+297… NM_001144912.2:c.1839+29734_1839+29737del	N/A	Intron Variant
ATG7 transcript variant 4	NM_001349232.2:c.1957-170… NM_001349232.2:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant 5	NM_001349233.2:c.1957-170… NM_001349233.2:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant 6	NM_001349234.2:c.1957-170… NM_001349234.2:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant 7	NM_001349235.2:c.1957-170… NM_001349235.2:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant 8	NM_001349236.2:c.1840-170… NM_001349236.2:c.1840-17018_1840-17015del	N/A	Intron Variant
ATG7 transcript variant 9	NM_001349237.2:c.1798-170… NM_001349237.2:c.1798-17018_1798-17015del	N/A	Intron Variant
ATG7 transcript variant 10	NM_001349238.2:c.1024-170… NM_001349238.2:c.1024-17018_1024-17015del	N/A	Intron Variant
ATG7 transcript variant 1	NM_006395.3:c.1957-17018_… NM_006395.3:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X1	XM_006712931.5:c.1957-170… XM_006712931.5:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X12	XM_006712932.5:c.1957-170… XM_006712932.5:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X10	XM_011533277.4:c.1957-170… XM_011533277.4:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X15	XM_017005542.2:c.1957-170… XM_017005542.2:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X17	XM_017005543.2:c.1876-170… XM_017005543.2:c.1876-17018_1876-17015del	N/A	Intron Variant
ATG7 transcript variant X6	XM_017005548.2:c.1957-170… XM_017005548.2:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X19	XM_017005550.2:c.1798-170… XM_017005550.2:c.1798-17018_1798-17015del	N/A	Intron Variant
ATG7 transcript variant X20	XM_017005551.2:c.1876-170… XM_017005551.2:c.1876-17018_1876-17015del	N/A	Intron Variant
ATG7 transcript variant X2	XM_024453312.2:c.1957-170… XM_024453312.2:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X3	XM_047447293.1:c.1957-170… XM_047447293.1:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X7	XM_047447294.1:c.1957-170… XM_047447294.1:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X8	XM_047447295.1:c.1957-170… XM_047447295.1:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X9	XM_047447296.1:c.1957-170… XM_047447296.1:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X11	XM_047447297.1:c.1957-170… XM_047447297.1:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X13	XM_047447298.1:c.1957-170… XM_047447298.1:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X14	XM_047447299.1:c.1957-170… XM_047447299.1:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X16	XM_047447300.1:c.1957-170… XM_047447300.1:c.1957-17018_1957-17015del	N/A	Intron Variant
ATG7 transcript variant X18	XM_047447301.1:c.1798-170… XM_047447301.1:c.1798-17018_1798-17015del	N/A	Intron Variant
ATG7 transcript variant X21	XM_047447302.1:c.1876-170… XM_047447302.1:c.1876-17018_1876-17015del	N/A	Intron Variant
ATG7 transcript variant X22	XM_047447303.1:c.1717-170… XM_047447303.1:c.1717-17018_1717-17015del	N/A	Intron Variant
ATG7 transcript variant X23	XM_047447304.1:c.1798-170… XM_047447304.1:c.1798-17018_1798-17015del	N/A	Intron Variant
ATG7 transcript variant X24	XM_047447305.1:c.1798-170… XM_047447305.1:c.1798-17018_1798-17015del	N/A	Intron Variant
ATG7 transcript variant X25	XM_047447306.1:c.1798-170… XM_047447306.1:c.1798-17018_1798-17015del	N/A	Intron Variant
ATG7 transcript variant X26	XM_047447307.1:c.1339-170… XM_047447307.1:c.1339-17018_1339-17015del	N/A	Intron Variant
ATG7 transcript variant X27	XM_047447308.1:c.1339-170… XM_047447308.1:c.1339-17018_1339-17015del	N/A	Intron Variant
ATG7 transcript variant X28	XM_047447309.1:c.1024-170… XM_047447309.1:c.1024-17018_1024-17015del	N/A	Intron Variant
ATG7 transcript variant X4	XR_007095622.1:n.	N/A	Intron Variant
ATG7 transcript variant X5	XR_007095623.1:n.	N/A	Intron Variant

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

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	(T)₁₄=	del(T)₄	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	ins(T)₇G(T)₁₉
GRCh38.p14 chr 3	NC_000003.12:g.11409776_11409789=	NC_000003.12:g.11409786_11409789del	NC_000003.12:g.11409788_11409789del	NC_000003.12:g.11409789del	NC_000003.12:g.11409789dup	NC_000003.12:g.11409788_11409789dup	NC_000003.12:g.11409787_11409789dup	NC_000003.12:g.11409786_11409789dup	NC_000003.12:g.11409776_11409789T[21]GTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 3	NC_000003.11:g.11451250_11451263=	NC_000003.11:g.11451260_11451263del	NC_000003.11:g.11451262_11451263del	NC_000003.11:g.11451263del	NC_000003.11:g.11451263dup	NC_000003.11:g.11451262_11451263dup	NC_000003.11:g.11451261_11451263dup	NC_000003.11:g.11451260_11451263dup	NC_000003.11:g.11451250_11451263T[21]GTTTTTTTTTTTTTTTTTTT[1]
ATG7 transcript variant 2	NM_001136031.2:c.1876-17028=	NM_001136031.2:c.1876-17018_1876-17015del	NM_001136031.2:c.1876-17016_1876-17015del	NM_001136031.2:c.1876-17015del	NM_001136031.2:c.1876-17015dup	NM_001136031.2:c.1876-17016_1876-17015dup	NM_001136031.2:c.1876-17017_1876-17015dup	NM_001136031.2:c.1876-17018_1876-17015dup	NM_001136031.2:c.1876-17015_1876-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant 2	NM_001136031.3:c.1876-17028=	NM_001136031.3:c.1876-17018_1876-17015del	NM_001136031.3:c.1876-17016_1876-17015del	NM_001136031.3:c.1876-17015del	NM_001136031.3:c.1876-17015dup	NM_001136031.3:c.1876-17016_1876-17015dup	NM_001136031.3:c.1876-17017_1876-17015dup	NM_001136031.3:c.1876-17018_1876-17015dup	NM_001136031.3:c.1876-17015_1876-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant 3	NM_001144912.1:c.1839+29724=	NM_001144912.1:c.1839+29734_1839+29737del	NM_001144912.1:c.1839+29736_1839+29737del	NM_001144912.1:c.1839+29737del	NM_001144912.1:c.1839+29737dup	NM_001144912.1:c.1839+29736_1839+29737dup	NM_001144912.1:c.1839+29735_1839+29737dup	NM_001144912.1:c.1839+29734_1839+29737dup	NM_001144912.1:c.1839+29737_1839+29738insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant 3	NM_001144912.2:c.1839+29724=	NM_001144912.2:c.1839+29734_1839+29737del	NM_001144912.2:c.1839+29736_1839+29737del	NM_001144912.2:c.1839+29737del	NM_001144912.2:c.1839+29737dup	NM_001144912.2:c.1839+29736_1839+29737dup	NM_001144912.2:c.1839+29735_1839+29737dup	NM_001144912.2:c.1839+29734_1839+29737dup	NM_001144912.2:c.1839+29737_1839+29738insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant 4	NM_001349232.2:c.1957-17028=	NM_001349232.2:c.1957-17018_1957-17015del	NM_001349232.2:c.1957-17016_1957-17015del	NM_001349232.2:c.1957-17015del	NM_001349232.2:c.1957-17015dup	NM_001349232.2:c.1957-17016_1957-17015dup	NM_001349232.2:c.1957-17017_1957-17015dup	NM_001349232.2:c.1957-17018_1957-17015dup	NM_001349232.2:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant 5	NM_001349233.2:c.1957-17028=	NM_001349233.2:c.1957-17018_1957-17015del	NM_001349233.2:c.1957-17016_1957-17015del	NM_001349233.2:c.1957-17015del	NM_001349233.2:c.1957-17015dup	NM_001349233.2:c.1957-17016_1957-17015dup	NM_001349233.2:c.1957-17017_1957-17015dup	NM_001349233.2:c.1957-17018_1957-17015dup	NM_001349233.2:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant 6	NM_001349234.2:c.1957-17028=	NM_001349234.2:c.1957-17018_1957-17015del	NM_001349234.2:c.1957-17016_1957-17015del	NM_001349234.2:c.1957-17015del	NM_001349234.2:c.1957-17015dup	NM_001349234.2:c.1957-17016_1957-17015dup	NM_001349234.2:c.1957-17017_1957-17015dup	NM_001349234.2:c.1957-17018_1957-17015dup	NM_001349234.2:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant 7	NM_001349235.2:c.1957-17028=	NM_001349235.2:c.1957-17018_1957-17015del	NM_001349235.2:c.1957-17016_1957-17015del	NM_001349235.2:c.1957-17015del	NM_001349235.2:c.1957-17015dup	NM_001349235.2:c.1957-17016_1957-17015dup	NM_001349235.2:c.1957-17017_1957-17015dup	NM_001349235.2:c.1957-17018_1957-17015dup	NM_001349235.2:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant 8	NM_001349236.2:c.1840-17028=	NM_001349236.2:c.1840-17018_1840-17015del	NM_001349236.2:c.1840-17016_1840-17015del	NM_001349236.2:c.1840-17015del	NM_001349236.2:c.1840-17015dup	NM_001349236.2:c.1840-17016_1840-17015dup	NM_001349236.2:c.1840-17017_1840-17015dup	NM_001349236.2:c.1840-17018_1840-17015dup	NM_001349236.2:c.1840-17015_1840-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant 9	NM_001349237.2:c.1798-17028=	NM_001349237.2:c.1798-17018_1798-17015del	NM_001349237.2:c.1798-17016_1798-17015del	NM_001349237.2:c.1798-17015del	NM_001349237.2:c.1798-17015dup	NM_001349237.2:c.1798-17016_1798-17015dup	NM_001349237.2:c.1798-17017_1798-17015dup	NM_001349237.2:c.1798-17018_1798-17015dup	NM_001349237.2:c.1798-17015_1798-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant 10	NM_001349238.2:c.1024-17028=	NM_001349238.2:c.1024-17018_1024-17015del	NM_001349238.2:c.1024-17016_1024-17015del	NM_001349238.2:c.1024-17015del	NM_001349238.2:c.1024-17015dup	NM_001349238.2:c.1024-17016_1024-17015dup	NM_001349238.2:c.1024-17017_1024-17015dup	NM_001349238.2:c.1024-17018_1024-17015dup	NM_001349238.2:c.1024-17015_1024-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant 1	NM_006395.2:c.1957-17028=	NM_006395.2:c.1957-17018_1957-17015del	NM_006395.2:c.1957-17016_1957-17015del	NM_006395.2:c.1957-17015del	NM_006395.2:c.1957-17015dup	NM_006395.2:c.1957-17016_1957-17015dup	NM_006395.2:c.1957-17017_1957-17015dup	NM_006395.2:c.1957-17018_1957-17015dup	NM_006395.2:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant 1	NM_006395.3:c.1957-17028=	NM_006395.3:c.1957-17018_1957-17015del	NM_006395.3:c.1957-17016_1957-17015del	NM_006395.3:c.1957-17015del	NM_006395.3:c.1957-17015dup	NM_006395.3:c.1957-17016_1957-17015dup	NM_006395.3:c.1957-17017_1957-17015dup	NM_006395.3:c.1957-17018_1957-17015dup	NM_006395.3:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X1	XM_005264800.1:c.1957-17028=	XM_005264800.1:c.1957-17018_1957-17015del	XM_005264800.1:c.1957-17016_1957-17015del	XM_005264800.1:c.1957-17015del	XM_005264800.1:c.1957-17015dup	XM_005264800.1:c.1957-17016_1957-17015dup	XM_005264800.1:c.1957-17017_1957-17015dup	XM_005264800.1:c.1957-17018_1957-17015dup	XM_005264800.1:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X2	XM_005264801.1:c.1957-17028=	XM_005264801.1:c.1957-17018_1957-17015del	XM_005264801.1:c.1957-17016_1957-17015del	XM_005264801.1:c.1957-17015del	XM_005264801.1:c.1957-17015dup	XM_005264801.1:c.1957-17016_1957-17015dup	XM_005264801.1:c.1957-17017_1957-17015dup	XM_005264801.1:c.1957-17018_1957-17015dup	XM_005264801.1:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X3	XM_005264802.1:c.1957-17028=	XM_005264802.1:c.1957-17018_1957-17015del	XM_005264802.1:c.1957-17016_1957-17015del	XM_005264802.1:c.1957-17015del	XM_005264802.1:c.1957-17015dup	XM_005264802.1:c.1957-17016_1957-17015dup	XM_005264802.1:c.1957-17017_1957-17015dup	XM_005264802.1:c.1957-17018_1957-17015dup	XM_005264802.1:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X4	XM_005264803.1:c.1957-17028=	XM_005264803.1:c.1957-17018_1957-17015del	XM_005264803.1:c.1957-17016_1957-17015del	XM_005264803.1:c.1957-17015del	XM_005264803.1:c.1957-17015dup	XM_005264803.1:c.1957-17016_1957-17015dup	XM_005264803.1:c.1957-17017_1957-17015dup	XM_005264803.1:c.1957-17018_1957-17015dup	XM_005264803.1:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X5	XM_005264804.1:c.1891-17028=	XM_005264804.1:c.1891-17018_1891-17015del	XM_005264804.1:c.1891-17016_1891-17015del	XM_005264804.1:c.1891-17015del	XM_005264804.1:c.1891-17015dup	XM_005264804.1:c.1891-17016_1891-17015dup	XM_005264804.1:c.1891-17017_1891-17015dup	XM_005264804.1:c.1891-17018_1891-17015dup	XM_005264804.1:c.1891-17015_1891-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X6	XM_005264805.1:c.1798-17028=	XM_005264805.1:c.1798-17018_1798-17015del	XM_005264805.1:c.1798-17016_1798-17015del	XM_005264805.1:c.1798-17015del	XM_005264805.1:c.1798-17015dup	XM_005264805.1:c.1798-17016_1798-17015dup	XM_005264805.1:c.1798-17017_1798-17015dup	XM_005264805.1:c.1798-17018_1798-17015dup	XM_005264805.1:c.1798-17015_1798-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X1	XM_006712931.5:c.1957-17028=	XM_006712931.5:c.1957-17018_1957-17015del	XM_006712931.5:c.1957-17016_1957-17015del	XM_006712931.5:c.1957-17015del	XM_006712931.5:c.1957-17015dup	XM_006712931.5:c.1957-17016_1957-17015dup	XM_006712931.5:c.1957-17017_1957-17015dup	XM_006712931.5:c.1957-17018_1957-17015dup	XM_006712931.5:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X12	XM_006712932.5:c.1957-17028=	XM_006712932.5:c.1957-17018_1957-17015del	XM_006712932.5:c.1957-17016_1957-17015del	XM_006712932.5:c.1957-17015del	XM_006712932.5:c.1957-17015dup	XM_006712932.5:c.1957-17016_1957-17015dup	XM_006712932.5:c.1957-17017_1957-17015dup	XM_006712932.5:c.1957-17018_1957-17015dup	XM_006712932.5:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X10	XM_011533277.4:c.1957-17028=	XM_011533277.4:c.1957-17018_1957-17015del	XM_011533277.4:c.1957-17016_1957-17015del	XM_011533277.4:c.1957-17015del	XM_011533277.4:c.1957-17015dup	XM_011533277.4:c.1957-17016_1957-17015dup	XM_011533277.4:c.1957-17017_1957-17015dup	XM_011533277.4:c.1957-17018_1957-17015dup	XM_011533277.4:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X15	XM_017005542.2:c.1957-17028=	XM_017005542.2:c.1957-17018_1957-17015del	XM_017005542.2:c.1957-17016_1957-17015del	XM_017005542.2:c.1957-17015del	XM_017005542.2:c.1957-17015dup	XM_017005542.2:c.1957-17016_1957-17015dup	XM_017005542.2:c.1957-17017_1957-17015dup	XM_017005542.2:c.1957-17018_1957-17015dup	XM_017005542.2:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X17	XM_017005543.2:c.1876-17028=	XM_017005543.2:c.1876-17018_1876-17015del	XM_017005543.2:c.1876-17016_1876-17015del	XM_017005543.2:c.1876-17015del	XM_017005543.2:c.1876-17015dup	XM_017005543.2:c.1876-17016_1876-17015dup	XM_017005543.2:c.1876-17017_1876-17015dup	XM_017005543.2:c.1876-17018_1876-17015dup	XM_017005543.2:c.1876-17015_1876-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X6	XM_017005548.2:c.1957-17028=	XM_017005548.2:c.1957-17018_1957-17015del	XM_017005548.2:c.1957-17016_1957-17015del	XM_017005548.2:c.1957-17015del	XM_017005548.2:c.1957-17015dup	XM_017005548.2:c.1957-17016_1957-17015dup	XM_017005548.2:c.1957-17017_1957-17015dup	XM_017005548.2:c.1957-17018_1957-17015dup	XM_017005548.2:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X19	XM_017005550.2:c.1798-17028=	XM_017005550.2:c.1798-17018_1798-17015del	XM_017005550.2:c.1798-17016_1798-17015del	XM_017005550.2:c.1798-17015del	XM_017005550.2:c.1798-17015dup	XM_017005550.2:c.1798-17016_1798-17015dup	XM_017005550.2:c.1798-17017_1798-17015dup	XM_017005550.2:c.1798-17018_1798-17015dup	XM_017005550.2:c.1798-17015_1798-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X20	XM_017005551.2:c.1876-17028=	XM_017005551.2:c.1876-17018_1876-17015del	XM_017005551.2:c.1876-17016_1876-17015del	XM_017005551.2:c.1876-17015del	XM_017005551.2:c.1876-17015dup	XM_017005551.2:c.1876-17016_1876-17015dup	XM_017005551.2:c.1876-17017_1876-17015dup	XM_017005551.2:c.1876-17018_1876-17015dup	XM_017005551.2:c.1876-17015_1876-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X2	XM_024453312.2:c.1957-17028=	XM_024453312.2:c.1957-17018_1957-17015del	XM_024453312.2:c.1957-17016_1957-17015del	XM_024453312.2:c.1957-17015del	XM_024453312.2:c.1957-17015dup	XM_024453312.2:c.1957-17016_1957-17015dup	XM_024453312.2:c.1957-17017_1957-17015dup	XM_024453312.2:c.1957-17018_1957-17015dup	XM_024453312.2:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X3	XM_047447293.1:c.1957-17028=	XM_047447293.1:c.1957-17018_1957-17015del	XM_047447293.1:c.1957-17016_1957-17015del	XM_047447293.1:c.1957-17015del	XM_047447293.1:c.1957-17015dup	XM_047447293.1:c.1957-17016_1957-17015dup	XM_047447293.1:c.1957-17017_1957-17015dup	XM_047447293.1:c.1957-17018_1957-17015dup	XM_047447293.1:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X7	XM_047447294.1:c.1957-17028=	XM_047447294.1:c.1957-17018_1957-17015del	XM_047447294.1:c.1957-17016_1957-17015del	XM_047447294.1:c.1957-17015del	XM_047447294.1:c.1957-17015dup	XM_047447294.1:c.1957-17016_1957-17015dup	XM_047447294.1:c.1957-17017_1957-17015dup	XM_047447294.1:c.1957-17018_1957-17015dup	XM_047447294.1:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X8	XM_047447295.1:c.1957-17028=	XM_047447295.1:c.1957-17018_1957-17015del	XM_047447295.1:c.1957-17016_1957-17015del	XM_047447295.1:c.1957-17015del	XM_047447295.1:c.1957-17015dup	XM_047447295.1:c.1957-17016_1957-17015dup	XM_047447295.1:c.1957-17017_1957-17015dup	XM_047447295.1:c.1957-17018_1957-17015dup	XM_047447295.1:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X9	XM_047447296.1:c.1957-17028=	XM_047447296.1:c.1957-17018_1957-17015del	XM_047447296.1:c.1957-17016_1957-17015del	XM_047447296.1:c.1957-17015del	XM_047447296.1:c.1957-17015dup	XM_047447296.1:c.1957-17016_1957-17015dup	XM_047447296.1:c.1957-17017_1957-17015dup	XM_047447296.1:c.1957-17018_1957-17015dup	XM_047447296.1:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X11	XM_047447297.1:c.1957-17028=	XM_047447297.1:c.1957-17018_1957-17015del	XM_047447297.1:c.1957-17016_1957-17015del	XM_047447297.1:c.1957-17015del	XM_047447297.1:c.1957-17015dup	XM_047447297.1:c.1957-17016_1957-17015dup	XM_047447297.1:c.1957-17017_1957-17015dup	XM_047447297.1:c.1957-17018_1957-17015dup	XM_047447297.1:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X13	XM_047447298.1:c.1957-17028=	XM_047447298.1:c.1957-17018_1957-17015del	XM_047447298.1:c.1957-17016_1957-17015del	XM_047447298.1:c.1957-17015del	XM_047447298.1:c.1957-17015dup	XM_047447298.1:c.1957-17016_1957-17015dup	XM_047447298.1:c.1957-17017_1957-17015dup	XM_047447298.1:c.1957-17018_1957-17015dup	XM_047447298.1:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X14	XM_047447299.1:c.1957-17028=	XM_047447299.1:c.1957-17018_1957-17015del	XM_047447299.1:c.1957-17016_1957-17015del	XM_047447299.1:c.1957-17015del	XM_047447299.1:c.1957-17015dup	XM_047447299.1:c.1957-17016_1957-17015dup	XM_047447299.1:c.1957-17017_1957-17015dup	XM_047447299.1:c.1957-17018_1957-17015dup	XM_047447299.1:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X16	XM_047447300.1:c.1957-17028=	XM_047447300.1:c.1957-17018_1957-17015del	XM_047447300.1:c.1957-17016_1957-17015del	XM_047447300.1:c.1957-17015del	XM_047447300.1:c.1957-17015dup	XM_047447300.1:c.1957-17016_1957-17015dup	XM_047447300.1:c.1957-17017_1957-17015dup	XM_047447300.1:c.1957-17018_1957-17015dup	XM_047447300.1:c.1957-17015_1957-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X18	XM_047447301.1:c.1798-17028=	XM_047447301.1:c.1798-17018_1798-17015del	XM_047447301.1:c.1798-17016_1798-17015del	XM_047447301.1:c.1798-17015del	XM_047447301.1:c.1798-17015dup	XM_047447301.1:c.1798-17016_1798-17015dup	XM_047447301.1:c.1798-17017_1798-17015dup	XM_047447301.1:c.1798-17018_1798-17015dup	XM_047447301.1:c.1798-17015_1798-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X21	XM_047447302.1:c.1876-17028=	XM_047447302.1:c.1876-17018_1876-17015del	XM_047447302.1:c.1876-17016_1876-17015del	XM_047447302.1:c.1876-17015del	XM_047447302.1:c.1876-17015dup	XM_047447302.1:c.1876-17016_1876-17015dup	XM_047447302.1:c.1876-17017_1876-17015dup	XM_047447302.1:c.1876-17018_1876-17015dup	XM_047447302.1:c.1876-17015_1876-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X22	XM_047447303.1:c.1717-17028=	XM_047447303.1:c.1717-17018_1717-17015del	XM_047447303.1:c.1717-17016_1717-17015del	XM_047447303.1:c.1717-17015del	XM_047447303.1:c.1717-17015dup	XM_047447303.1:c.1717-17016_1717-17015dup	XM_047447303.1:c.1717-17017_1717-17015dup	XM_047447303.1:c.1717-17018_1717-17015dup	XM_047447303.1:c.1717-17015_1717-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X23	XM_047447304.1:c.1798-17028=	XM_047447304.1:c.1798-17018_1798-17015del	XM_047447304.1:c.1798-17016_1798-17015del	XM_047447304.1:c.1798-17015del	XM_047447304.1:c.1798-17015dup	XM_047447304.1:c.1798-17016_1798-17015dup	XM_047447304.1:c.1798-17017_1798-17015dup	XM_047447304.1:c.1798-17018_1798-17015dup	XM_047447304.1:c.1798-17015_1798-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X24	XM_047447305.1:c.1798-17028=	XM_047447305.1:c.1798-17018_1798-17015del	XM_047447305.1:c.1798-17016_1798-17015del	XM_047447305.1:c.1798-17015del	XM_047447305.1:c.1798-17015dup	XM_047447305.1:c.1798-17016_1798-17015dup	XM_047447305.1:c.1798-17017_1798-17015dup	XM_047447305.1:c.1798-17018_1798-17015dup	XM_047447305.1:c.1798-17015_1798-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X25	XM_047447306.1:c.1798-17028=	XM_047447306.1:c.1798-17018_1798-17015del	XM_047447306.1:c.1798-17016_1798-17015del	XM_047447306.1:c.1798-17015del	XM_047447306.1:c.1798-17015dup	XM_047447306.1:c.1798-17016_1798-17015dup	XM_047447306.1:c.1798-17017_1798-17015dup	XM_047447306.1:c.1798-17018_1798-17015dup	XM_047447306.1:c.1798-17015_1798-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X26	XM_047447307.1:c.1339-17028=	XM_047447307.1:c.1339-17018_1339-17015del	XM_047447307.1:c.1339-17016_1339-17015del	XM_047447307.1:c.1339-17015del	XM_047447307.1:c.1339-17015dup	XM_047447307.1:c.1339-17016_1339-17015dup	XM_047447307.1:c.1339-17017_1339-17015dup	XM_047447307.1:c.1339-17018_1339-17015dup	XM_047447307.1:c.1339-17015_1339-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X27	XM_047447308.1:c.1339-17028=	XM_047447308.1:c.1339-17018_1339-17015del	XM_047447308.1:c.1339-17016_1339-17015del	XM_047447308.1:c.1339-17015del	XM_047447308.1:c.1339-17015dup	XM_047447308.1:c.1339-17016_1339-17015dup	XM_047447308.1:c.1339-17017_1339-17015dup	XM_047447308.1:c.1339-17018_1339-17015dup	XM_047447308.1:c.1339-17015_1339-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT
ATG7 transcript variant X28	XM_047447309.1:c.1024-17028=	XM_047447309.1:c.1024-17018_1024-17015del	XM_047447309.1:c.1024-17016_1024-17015del	XM_047447309.1:c.1024-17015del	XM_047447309.1:c.1024-17015dup	XM_047447309.1:c.1024-17016_1024-17015dup	XM_047447309.1:c.1024-17017_1024-17015dup	XM_047447309.1:c.1024-17018_1024-17015dup	XM_047447309.1:c.1024-17015_1024-17014insTTTTTTTGTTTTTTTTTTTTTTTTTTT

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#.

56 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41882140	Mar 15, 2006 (126)
2	HGSV	ss81470812	Dec 04, 2013 (138)
3	HUMANGENOME_JCVI	ss99163119	Feb 04, 2009 (138)
4	BCMHGSC_JDW	ss103663669	Dec 01, 2009 (131)
5	BUSHMAN	ss193658089	Jul 04, 2010 (132)
6	GMI	ss288323227	May 04, 2012 (138)
7	PJP	ss295088011	May 09, 2011 (138)
8	SSMP	ss663346272	Apr 01, 2015 (144)
9	BILGI_BIOE	ss666197116	Apr 25, 2013 (138)
10	1000GENOMES	ss1369970353	Aug 21, 2014 (142)
11	EVA_GENOME_DK	ss1575883534	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1703512167	Apr 01, 2015 (144)
13	EVA_UK10K_ALSPAC	ss1703512168	Apr 01, 2015 (144)
14	JJLAB	ss2030496067	Sep 14, 2016 (149)
15	SYSTEMSBIOZJU	ss2625157733	Nov 08, 2017 (151)
16	SWEGEN	ss2991830618	Nov 08, 2017 (151)
17	MCHAISSO	ss3065867133	Nov 08, 2017 (151)
18	URBANLAB	ss3647340700	Oct 11, 2018 (152)
19	EVA_DECODE	ss3708638199	Jul 13, 2019 (153)
20	EVA_DECODE	ss3708638200	Jul 13, 2019 (153)
21	EVA_DECODE	ss3708638201	Jul 13, 2019 (153)
22	EVA_DECODE	ss3708638202	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3802812043	Jul 13, 2019 (153)
24	EVA	ss3827662048	Apr 25, 2020 (154)
25	EVA	ss3837252736	Apr 25, 2020 (154)
26	EVA	ss3842676627	Apr 25, 2020 (154)
27	KOGIC	ss3950666716	Apr 25, 2020 (154)
28	KOGIC	ss3950666717	Apr 25, 2020 (154)
29	KOGIC	ss3950666718	Apr 25, 2020 (154)
30	GNOMAD	ss4065861436	Apr 27, 2021 (155)
31	GNOMAD	ss4065861437	Apr 27, 2021 (155)
32	GNOMAD	ss4065861438	Apr 27, 2021 (155)
33	GNOMAD	ss4065861439	Apr 27, 2021 (155)
34	GNOMAD	ss4065861440	Apr 27, 2021 (155)
35	GNOMAD	ss4065861442	Apr 27, 2021 (155)
36	GNOMAD	ss4065861443	Apr 27, 2021 (155)
37	GNOMAD	ss4065861444	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5157800703	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5157800704	Apr 27, 2021 (155)
40	TOMMO_GENOMICS	ss5157800705	Apr 27, 2021 (155)
41	TOMMO_GENOMICS	ss5157800706	Apr 27, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5253050701	Oct 17, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5253050702	Oct 17, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5253050703	Oct 17, 2022 (156)
45	HUGCELL_USP	ss5452551662	Oct 17, 2022 (156)
46	HUGCELL_USP	ss5452551663	Oct 17, 2022 (156)
47	HUGCELL_USP	ss5452551664	Oct 17, 2022 (156)
48	TOMMO_GENOMICS	ss5689069587	Oct 17, 2022 (156)
49	TOMMO_GENOMICS	ss5689069589	Oct 17, 2022 (156)
50	TOMMO_GENOMICS	ss5689069590	Oct 17, 2022 (156)
51	TOMMO_GENOMICS	ss5689069591	Oct 17, 2022 (156)
52	YY_MCH	ss5803481781	Oct 17, 2022 (156)
53	EVA	ss5825346922	Oct 17, 2022 (156)
54	EVA	ss5853490731	Oct 17, 2022 (156)
55	EVA	ss5867633341	Oct 17, 2022 (156)
56	EVA	ss5959802931	Oct 17, 2022 (156)
57	1000Genomes	NC_000003.11 - 11451250	Oct 11, 2018 (152)
58	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 11451250	Oct 11, 2018 (152)
59	The Danish reference pan genome	NC_000003.11 - 11451250	Apr 25, 2020 (154)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99052322 (NC_000003.12:11409775::T 72585/132670) Row 99052323 (NC_000003.12:11409775::TT 812/132704) Row 99052324 (NC_000003.12:11409775::TTT 7/132750)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99052322 (NC_000003.12:11409775::T 72585/132670) Row 99052323 (NC_000003.12:11409775::TT 812/132704) Row 99052324 (NC_000003.12:11409775::TTT 7/132750)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99052322 (NC_000003.12:11409775::T 72585/132670) Row 99052323 (NC_000003.12:11409775::TT 812/132704) Row 99052324 (NC_000003.12:11409775::TTT 7/132750)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99052322 (NC_000003.12:11409775::T 72585/132670) Row 99052323 (NC_000003.12:11409775::TT 812/132704) Row 99052324 (NC_000003.12:11409775::TTT 7/132750)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99052322 (NC_000003.12:11409775::T 72585/132670) Row 99052323 (NC_000003.12:11409775::TT 812/132704) Row 99052324 (NC_000003.12:11409775::TTT 7/132750)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99052322 (NC_000003.12:11409775::T 72585/132670) Row 99052323 (NC_000003.12:11409775::TT 812/132704) Row 99052324 (NC_000003.12:11409775::TTT 7/132750)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99052322 (NC_000003.12:11409775::T 72585/132670) Row 99052323 (NC_000003.12:11409775::TT 812/132704) Row 99052324 (NC_000003.12:11409775::TTT 7/132750)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 99052322 (NC_000003.12:11409775::T 72585/132670) Row 99052323 (NC_000003.12:11409775::TT 812/132704) Row 99052324 (NC_000003.12:11409775::TTT 7/132750)...	-	Apr 27, 2021 (155)
68	Korean Genome Project Submission ignored due to conflicting rows: Row 7044717 (NC_000003.12:11409776::T 1073/1830) Row 7044718 (NC_000003.12:11409775:T: 26/1830) Row 7044719 (NC_000003.12:11409776::TT 39/1830)	-	Apr 25, 2020 (154)
69	Korean Genome Project Submission ignored due to conflicting rows: Row 7044717 (NC_000003.12:11409776::T 1073/1830) Row 7044718 (NC_000003.12:11409775:T: 26/1830) Row 7044719 (NC_000003.12:11409776::TT 39/1830)	-	Apr 25, 2020 (154)
70	Korean Genome Project Submission ignored due to conflicting rows: Row 7044717 (NC_000003.12:11409776::T 1073/1830) Row 7044718 (NC_000003.12:11409775:T: 26/1830) Row 7044719 (NC_000003.12:11409776::TT 39/1830)	-	Apr 25, 2020 (154)
71	8.3KJPN Submission ignored due to conflicting rows: Row 15770010 (NC_000003.11:11451249::T 11101/16748) Row 15770011 (NC_000003.11:11451249::TT 41/16748) Row 15770012 (NC_000003.11:11451249:T: 27/16748)...	-	Apr 27, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 15770010 (NC_000003.11:11451249::T 11101/16748) Row 15770011 (NC_000003.11:11451249::TT 41/16748) Row 15770012 (NC_000003.11:11451249:T: 27/16748)...	-	Apr 27, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 15770010 (NC_000003.11:11451249::T 11101/16748) Row 15770011 (NC_000003.11:11451249::TT 41/16748) Row 15770012 (NC_000003.11:11451249:T: 27/16748)...	-	Apr 27, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 15770010 (NC_000003.11:11451249::T 11101/16748) Row 15770011 (NC_000003.11:11451249::TT 41/16748) Row 15770012 (NC_000003.11:11451249:T: 27/16748)...	-	Apr 27, 2021 (155)
75	14KJPN Submission ignored due to conflicting rows: Row 22906691 (NC_000003.12:11409775::T 18546/28248) Row 22906693 (NC_000003.12:11409775:T: 45/28248) Row 22906694 (NC_000003.12:11409775::TT 59/28248)...	-	Oct 17, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 22906691 (NC_000003.12:11409775::T 18546/28248) Row 22906693 (NC_000003.12:11409775:T: 45/28248) Row 22906694 (NC_000003.12:11409775::TT 59/28248)...	-	Oct 17, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 22906691 (NC_000003.12:11409775::T 18546/28248) Row 22906693 (NC_000003.12:11409775:T: 45/28248) Row 22906694 (NC_000003.12:11409775::TT 59/28248)...	-	Oct 17, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 22906691 (NC_000003.12:11409775::T 18546/28248) Row 22906693 (NC_000003.12:11409775:T: 45/28248) Row 22906694 (NC_000003.12:11409775::TT 59/28248)...	-	Oct 17, 2022 (156)
79	UK 10K study - Twins	NC_000003.11 - 11451250	Oct 11, 2018 (152)
80	ALFA	NC_000003.12 - 11409776	Apr 27, 2021 (155)

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).

Associated ID	History Updated (Build)
rs58646379	May 15, 2013 (138)
rs149442038	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4065861444	NC_000003.12:11409775:TTTT:	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss5157800706	NC_000003.11:11451249:TT:	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3708638199, ss4065861443, ss5689069591	NC_000003.12:11409775:TT:	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
5849352910	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss103663669	NT_022517.18:11391261:TT:	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss2991830618, ss5157800705	NC_000003.11:11451249:T:	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3065867133, ss3950666717, ss4065861442, ss5253050702, ss5452551662, ss5689069589	NC_000003.12:11409775:T:	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
5849352910	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3708638200	NC_000003.12:11409776:T:	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss295088011	NC_000003.10:11426256::T	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss288323227	NC_000003.10:11426263::T	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
13950930, 7733013, 807868, 7733013, ss663346272, ss666197116, ss1369970353, ss1575883534, ss1703512167, ss1703512168, ss2030496067, ss2625157733, ss3827662048, ss3837252736, ss5157800703, ss5825346922, ss5959802931	NC_000003.11:11451249::T	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3647340700, ss3802812043, ss3842676627, ss4065861436, ss5253050701, ss5452551663, ss5689069587, ss5803481781, ss5853490731, ss5867633341	NC_000003.12:11409775::T	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
5849352910	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3950666716	NC_000003.12:11409776::T	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3708638201	NC_000003.12:11409777::T	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss41882140	NT_022517.18:11391249::T	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss81470812, ss99163119	NT_022517.18:11391263::T	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss193658089	NT_022517.19:11399775::T	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5157800704	NC_000003.11:11451249::TT	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4065861437, ss5253050703, ss5452551664, ss5689069590	NC_000003.12:11409775::TT	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
5849352910	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3950666718	NC_000003.12:11409776::TT	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3708638202	NC_000003.12:11409777::TT	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4065861438	NC_000003.12:11409775::TTT	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
5849352910	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4065861439	NC_000003.12:11409775::TTTT	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4065861440	NC_000003.12:11409775::TTTTTTTTTTT… NC_000003.12:11409775::TTTTTTTTTTTTTTTTTTTTTGTTTTT	NC_000003.12:11409775:TTTTTTTTTTTT… NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT	(self)

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

No publications for rs36100546

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs36100546