Name: rs56020996
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.

rs56020996

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:154553903-154553924 (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(A)₁₂ / del(A)₉ / del(A)₇ / del…
del(A)₁₂ / del(A)₉ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₂=0.000011 (3/264690, TOPMED)
delAAA=0.0772 (595/7710, ALFA)
delAAA=0.1715 (859/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DPP6 : 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	7710	AAAAAAAAAAAAAAAAAAAAAA=0.8556	AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0772, AAAAAAAAAAAAAAAAAAAAAAA=0.0066, AAAAAAAAAAAAAAAAAAAA=0.0470, AAAAAAAAAAAAAAAAAAAAAAAA=0.0104, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0012, AAAAAAAAAAAAAAAAAAAAA=0.0021	0.870768	0.018251	0.11098	32
European	Sub	6536	AAAAAAAAAAAAAAAAAAAAAA=0.8300	AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0909, AAAAAAAAAAAAAAAAAAAAAAA=0.0078, AAAAAAAAAAAAAAAAAAAA=0.0552, AAAAAAAAAAAAAAAAAAAAAAAA=0.0122, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0014, AAAAAAAAAAAAAAAAAAAAA=0.0024	0.844184	0.022056	0.13376	32
African	Sub	614	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	16	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	598	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	50	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	36	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	52	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	270	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	38	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	150	AAAAAAAAAAAAAAAAAAAAAA=0.987	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.007, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.007, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	0.986486	0.0	0.013514	0

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
TopMed	Global	Study-wide	264690	(A)₂₂=0.999989	del(A)₁₂=0.000011
Allele Frequency Aggregator	Total	Global	7710	(A)₂₂=0.8556	del(A)₁₂=0.0000, del(A)₉=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0772, delAA=0.0470, delA=0.0021, dupA=0.0066, dupAA=0.0104, dupAAA=0.0012
Allele Frequency Aggregator	European	Sub	6536	(A)₂₂=0.8300	del(A)₁₂=0.0000, del(A)₉=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0909, delAA=0.0552, delA=0.0024, dupA=0.0078, dupAA=0.0122, dupAAA=0.0014
Allele Frequency Aggregator	African	Sub	614	(A)₂₂=1.000	del(A)₁₂=0.000, del(A)₉=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	270	(A)₂₂=1.000	del(A)₁₂=0.000, del(A)₉=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	150	(A)₂₂=0.987	del(A)₁₂=0.000, del(A)₉=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.007, delAA=0.007, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	52	(A)₂₂=1.00	del(A)₁₂=0.00, del(A)₉=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	50	(A)₂₂=1.00	del(A)₁₂=0.00, del(A)₉=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	38	(A)₂₂=1.00	del(A)₁₂=0.00, del(A)₉=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
1000Genomes	Global	Study-wide	5008	(A)₂₂=0.8285	delAAA=0.1715
1000Genomes	African	Sub	1322	(A)₂₂=0.9213	delAAA=0.0787
1000Genomes	East Asian	Sub	1008	(A)₂₂=0.9335	delAAA=0.0665
1000Genomes	Europe	Sub	1006	(A)₂₂=0.6610	delAAA=0.3390
1000Genomes	South Asian	Sub	978	(A)₂₂=0.781	delAAA=0.219
1000Genomes	American	Sub	694	(A)₂₂=0.808	delAAA=0.192

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 7	NC_000007.14:g.154553913_154553924del
GRCh38.p14 chr 7	NC_000007.14:g.154553916_154553924del
GRCh38.p14 chr 7	NC_000007.14:g.154553918_154553924del
GRCh38.p14 chr 7	NC_000007.14:g.154553919_154553924del
GRCh38.p14 chr 7	NC_000007.14:g.154553920_154553924del
GRCh38.p14 chr 7	NC_000007.14:g.154553921_154553924del
GRCh38.p14 chr 7	NC_000007.14:g.154553922_154553924del
GRCh38.p14 chr 7	NC_000007.14:g.154553923_154553924del
GRCh38.p14 chr 7	NC_000007.14:g.154553924del
GRCh38.p14 chr 7	NC_000007.14:g.154553924dup
GRCh38.p14 chr 7	NC_000007.14:g.154553923_154553924dup
GRCh38.p14 chr 7	NC_000007.14:g.154553922_154553924dup
GRCh38.p14 chr 7	NC_000007.14:g.154553921_154553924dup
GRCh38.p14 chr 7	NC_000007.14:g.154553919_154553924dup
GRCh37.p13 chr 7	NC_000007.13:g.154250998_154251009del
GRCh37.p13 chr 7	NC_000007.13:g.154251001_154251009del
GRCh37.p13 chr 7	NC_000007.13:g.154251003_154251009del
GRCh37.p13 chr 7	NC_000007.13:g.154251004_154251009del
GRCh37.p13 chr 7	NC_000007.13:g.154251005_154251009del
GRCh37.p13 chr 7	NC_000007.13:g.154251006_154251009del
GRCh37.p13 chr 7	NC_000007.13:g.154251007_154251009del
GRCh37.p13 chr 7	NC_000007.13:g.154251008_154251009del
GRCh37.p13 chr 7	NC_000007.13:g.154251009del
GRCh37.p13 chr 7	NC_000007.13:g.154251009dup
GRCh37.p13 chr 7	NC_000007.13:g.154251008_154251009dup
GRCh37.p13 chr 7	NC_000007.13:g.154251007_154251009dup
GRCh37.p13 chr 7	NC_000007.13:g.154251006_154251009dup
GRCh37.p13 chr 7	NC_000007.13:g.154251004_154251009dup
DPP6 RefSeqGene	NG_033878.2:g.810928_810939del
DPP6 RefSeqGene	NG_033878.2:g.810931_810939del
DPP6 RefSeqGene	NG_033878.2:g.810933_810939del
DPP6 RefSeqGene	NG_033878.2:g.810934_810939del
DPP6 RefSeqGene	NG_033878.2:g.810935_810939del
DPP6 RefSeqGene	NG_033878.2:g.810936_810939del
DPP6 RefSeqGene	NG_033878.2:g.810937_810939del
DPP6 RefSeqGene	NG_033878.2:g.810938_810939del
DPP6 RefSeqGene	NG_033878.2:g.810939del
DPP6 RefSeqGene	NG_033878.2:g.810939dup
DPP6 RefSeqGene	NG_033878.2:g.810938_810939dup
DPP6 RefSeqGene	NG_033878.2:g.810937_810939dup
DPP6 RefSeqGene	NG_033878.2:g.810936_810939dup
DPP6 RefSeqGene	NG_033878.2:g.810934_810939dup
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131562_131573del
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131565_131573del
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131567_131573del
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131568_131573del
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131569_131573del
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131570_131573del
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131571_131573del
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131572_131573del
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131573del
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131573dup
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131572_131573dup
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131571_131573dup
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131570_131573dup
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131568_131573dup

Gene: DPP6, dipeptidyl peptidase like 6 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DPP6 transcript variant 3	NM_001039350.3:c.361-1292… NM_001039350.3:c.361-12929_361-12918del	N/A	Intron Variant
DPP6 transcript variant 4	NM_001290252.2:c.367-1292… NM_001290252.2:c.367-12929_367-12918del	N/A	Intron Variant
DPP6 transcript variant 5	NM_001290253.2:c.553-1292… NM_001290253.2:c.553-12929_553-12918del	N/A	Intron Variant
DPP6 transcript variant 6	NM_001364497.2:c.370-1292… NM_001364497.2:c.370-12929_370-12918del	N/A	Intron Variant
DPP6 transcript variant 7	NM_001364498.2:c.370-1292… NM_001364498.2:c.370-12929_370-12918del	N/A	Intron Variant
DPP6 transcript variant 8	NM_001364499.2:c.370-1292… NM_001364499.2:c.370-12929_370-12918del	N/A	Intron Variant
DPP6 transcript variant 9	NM_001364500.2:c.370-1292… NM_001364500.2:c.370-12929_370-12918del	N/A	Intron Variant
DPP6 transcript variant 10	NM_001364501.2:c.361-1292… NM_001364501.2:c.361-12929_361-12918del	N/A	Intron Variant
DPP6 transcript variant 11	NM_001364502.2:c.367-1292… NM_001364502.2:c.367-12929_367-12918del	N/A	Intron Variant
DPP6 transcript variant 2	NM_001936.5:c.367-12929_3… NM_001936.5:c.367-12929_367-12918del	N/A	Intron Variant
DPP6 transcript variant 1	NM_130797.4:c.553-12929_5… NM_130797.4:c.553-12929_553-12918del	N/A	Intron Variant
DPP6 transcript variant 12	NR_157195.2:n.	N/A	Intron Variant
DPP6 transcript variant 13	NR_157196.2:n.	N/A	Intron Variant
DPP6 transcript variant X2	XM_047419951.1:c.370-1292… XM_047419951.1:c.370-12929_370-12918del	N/A	Intron Variant
DPP6 transcript variant X1	XM_017011812.3:c.	N/A	Genic Upstream Transcript 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	(A)₂₂=	del(A)₁₂	del(A)₉	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₆
GRCh38.p14 chr 7	NC_000007.14:g.154553903_154553924=	NC_000007.14:g.154553913_154553924del	NC_000007.14:g.154553916_154553924del	NC_000007.14:g.154553918_154553924del	NC_000007.14:g.154553919_154553924del	NC_000007.14:g.154553920_154553924del	NC_000007.14:g.154553921_154553924del	NC_000007.14:g.154553922_154553924del	NC_000007.14:g.154553923_154553924del	NC_000007.14:g.154553924del	NC_000007.14:g.154553924dup	NC_000007.14:g.154553923_154553924dup	NC_000007.14:g.154553922_154553924dup	NC_000007.14:g.154553921_154553924dup	NC_000007.14:g.154553919_154553924dup
GRCh37.p13 chr 7	NC_000007.13:g.154250988_154251009=	NC_000007.13:g.154250998_154251009del	NC_000007.13:g.154251001_154251009del	NC_000007.13:g.154251003_154251009del	NC_000007.13:g.154251004_154251009del	NC_000007.13:g.154251005_154251009del	NC_000007.13:g.154251006_154251009del	NC_000007.13:g.154251007_154251009del	NC_000007.13:g.154251008_154251009del	NC_000007.13:g.154251009del	NC_000007.13:g.154251009dup	NC_000007.13:g.154251008_154251009dup	NC_000007.13:g.154251007_154251009dup	NC_000007.13:g.154251006_154251009dup	NC_000007.13:g.154251004_154251009dup
DPP6 RefSeqGene	NG_033878.2:g.810918_810939=	NG_033878.2:g.810928_810939del	NG_033878.2:g.810931_810939del	NG_033878.2:g.810933_810939del	NG_033878.2:g.810934_810939del	NG_033878.2:g.810935_810939del	NG_033878.2:g.810936_810939del	NG_033878.2:g.810937_810939del	NG_033878.2:g.810938_810939del	NG_033878.2:g.810939del	NG_033878.2:g.810939dup	NG_033878.2:g.810938_810939dup	NG_033878.2:g.810937_810939dup	NG_033878.2:g.810936_810939dup	NG_033878.2:g.810934_810939dup
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.131552_131573=	NW_012132919.1:g.131562_131573del	NW_012132919.1:g.131565_131573del	NW_012132919.1:g.131567_131573del	NW_012132919.1:g.131568_131573del	NW_012132919.1:g.131569_131573del	NW_012132919.1:g.131570_131573del	NW_012132919.1:g.131571_131573del	NW_012132919.1:g.131572_131573del	NW_012132919.1:g.131573del	NW_012132919.1:g.131573dup	NW_012132919.1:g.131572_131573dup	NW_012132919.1:g.131571_131573dup	NW_012132919.1:g.131570_131573dup	NW_012132919.1:g.131568_131573dup
DPP6 transcript variant 3	NM_001039350.1:c.361-12939=	NM_001039350.1:c.361-12929_361-12918del	NM_001039350.1:c.361-12926_361-12918del	NM_001039350.1:c.361-12924_361-12918del	NM_001039350.1:c.361-12923_361-12918del	NM_001039350.1:c.361-12922_361-12918del	NM_001039350.1:c.361-12921_361-12918del	NM_001039350.1:c.361-12920_361-12918del	NM_001039350.1:c.361-12919_361-12918del	NM_001039350.1:c.361-12918del	NM_001039350.1:c.361-12918dup	NM_001039350.1:c.361-12919_361-12918dup	NM_001039350.1:c.361-12920_361-12918dup	NM_001039350.1:c.361-12921_361-12918dup	NM_001039350.1:c.361-12923_361-12918dup
DPP6 transcript variant 3	NM_001039350.3:c.361-12939=	NM_001039350.3:c.361-12929_361-12918del	NM_001039350.3:c.361-12926_361-12918del	NM_001039350.3:c.361-12924_361-12918del	NM_001039350.3:c.361-12923_361-12918del	NM_001039350.3:c.361-12922_361-12918del	NM_001039350.3:c.361-12921_361-12918del	NM_001039350.3:c.361-12920_361-12918del	NM_001039350.3:c.361-12919_361-12918del	NM_001039350.3:c.361-12918del	NM_001039350.3:c.361-12918dup	NM_001039350.3:c.361-12919_361-12918dup	NM_001039350.3:c.361-12920_361-12918dup	NM_001039350.3:c.361-12921_361-12918dup	NM_001039350.3:c.361-12923_361-12918dup
DPP6 transcript variant 4	NM_001290252.2:c.367-12939=	NM_001290252.2:c.367-12929_367-12918del	NM_001290252.2:c.367-12926_367-12918del	NM_001290252.2:c.367-12924_367-12918del	NM_001290252.2:c.367-12923_367-12918del	NM_001290252.2:c.367-12922_367-12918del	NM_001290252.2:c.367-12921_367-12918del	NM_001290252.2:c.367-12920_367-12918del	NM_001290252.2:c.367-12919_367-12918del	NM_001290252.2:c.367-12918del	NM_001290252.2:c.367-12918dup	NM_001290252.2:c.367-12919_367-12918dup	NM_001290252.2:c.367-12920_367-12918dup	NM_001290252.2:c.367-12921_367-12918dup	NM_001290252.2:c.367-12923_367-12918dup
DPP6 transcript variant 5	NM_001290253.2:c.553-12939=	NM_001290253.2:c.553-12929_553-12918del	NM_001290253.2:c.553-12926_553-12918del	NM_001290253.2:c.553-12924_553-12918del	NM_001290253.2:c.553-12923_553-12918del	NM_001290253.2:c.553-12922_553-12918del	NM_001290253.2:c.553-12921_553-12918del	NM_001290253.2:c.553-12920_553-12918del	NM_001290253.2:c.553-12919_553-12918del	NM_001290253.2:c.553-12918del	NM_001290253.2:c.553-12918dup	NM_001290253.2:c.553-12919_553-12918dup	NM_001290253.2:c.553-12920_553-12918dup	NM_001290253.2:c.553-12921_553-12918dup	NM_001290253.2:c.553-12923_553-12918dup
DPP6 transcript variant 6	NM_001364497.2:c.370-12939=	NM_001364497.2:c.370-12929_370-12918del	NM_001364497.2:c.370-12926_370-12918del	NM_001364497.2:c.370-12924_370-12918del	NM_001364497.2:c.370-12923_370-12918del	NM_001364497.2:c.370-12922_370-12918del	NM_001364497.2:c.370-12921_370-12918del	NM_001364497.2:c.370-12920_370-12918del	NM_001364497.2:c.370-12919_370-12918del	NM_001364497.2:c.370-12918del	NM_001364497.2:c.370-12918dup	NM_001364497.2:c.370-12919_370-12918dup	NM_001364497.2:c.370-12920_370-12918dup	NM_001364497.2:c.370-12921_370-12918dup	NM_001364497.2:c.370-12923_370-12918dup
DPP6 transcript variant 7	NM_001364498.2:c.370-12939=	NM_001364498.2:c.370-12929_370-12918del	NM_001364498.2:c.370-12926_370-12918del	NM_001364498.2:c.370-12924_370-12918del	NM_001364498.2:c.370-12923_370-12918del	NM_001364498.2:c.370-12922_370-12918del	NM_001364498.2:c.370-12921_370-12918del	NM_001364498.2:c.370-12920_370-12918del	NM_001364498.2:c.370-12919_370-12918del	NM_001364498.2:c.370-12918del	NM_001364498.2:c.370-12918dup	NM_001364498.2:c.370-12919_370-12918dup	NM_001364498.2:c.370-12920_370-12918dup	NM_001364498.2:c.370-12921_370-12918dup	NM_001364498.2:c.370-12923_370-12918dup
DPP6 transcript variant 8	NM_001364499.2:c.370-12939=	NM_001364499.2:c.370-12929_370-12918del	NM_001364499.2:c.370-12926_370-12918del	NM_001364499.2:c.370-12924_370-12918del	NM_001364499.2:c.370-12923_370-12918del	NM_001364499.2:c.370-12922_370-12918del	NM_001364499.2:c.370-12921_370-12918del	NM_001364499.2:c.370-12920_370-12918del	NM_001364499.2:c.370-12919_370-12918del	NM_001364499.2:c.370-12918del	NM_001364499.2:c.370-12918dup	NM_001364499.2:c.370-12919_370-12918dup	NM_001364499.2:c.370-12920_370-12918dup	NM_001364499.2:c.370-12921_370-12918dup	NM_001364499.2:c.370-12923_370-12918dup
DPP6 transcript variant 9	NM_001364500.2:c.370-12939=	NM_001364500.2:c.370-12929_370-12918del	NM_001364500.2:c.370-12926_370-12918del	NM_001364500.2:c.370-12924_370-12918del	NM_001364500.2:c.370-12923_370-12918del	NM_001364500.2:c.370-12922_370-12918del	NM_001364500.2:c.370-12921_370-12918del	NM_001364500.2:c.370-12920_370-12918del	NM_001364500.2:c.370-12919_370-12918del	NM_001364500.2:c.370-12918del	NM_001364500.2:c.370-12918dup	NM_001364500.2:c.370-12919_370-12918dup	NM_001364500.2:c.370-12920_370-12918dup	NM_001364500.2:c.370-12921_370-12918dup	NM_001364500.2:c.370-12923_370-12918dup
DPP6 transcript variant 10	NM_001364501.2:c.361-12939=	NM_001364501.2:c.361-12929_361-12918del	NM_001364501.2:c.361-12926_361-12918del	NM_001364501.2:c.361-12924_361-12918del	NM_001364501.2:c.361-12923_361-12918del	NM_001364501.2:c.361-12922_361-12918del	NM_001364501.2:c.361-12921_361-12918del	NM_001364501.2:c.361-12920_361-12918del	NM_001364501.2:c.361-12919_361-12918del	NM_001364501.2:c.361-12918del	NM_001364501.2:c.361-12918dup	NM_001364501.2:c.361-12919_361-12918dup	NM_001364501.2:c.361-12920_361-12918dup	NM_001364501.2:c.361-12921_361-12918dup	NM_001364501.2:c.361-12923_361-12918dup
DPP6 transcript variant 11	NM_001364502.2:c.367-12939=	NM_001364502.2:c.367-12929_367-12918del	NM_001364502.2:c.367-12926_367-12918del	NM_001364502.2:c.367-12924_367-12918del	NM_001364502.2:c.367-12923_367-12918del	NM_001364502.2:c.367-12922_367-12918del	NM_001364502.2:c.367-12921_367-12918del	NM_001364502.2:c.367-12920_367-12918del	NM_001364502.2:c.367-12919_367-12918del	NM_001364502.2:c.367-12918del	NM_001364502.2:c.367-12918dup	NM_001364502.2:c.367-12919_367-12918dup	NM_001364502.2:c.367-12920_367-12918dup	NM_001364502.2:c.367-12921_367-12918dup	NM_001364502.2:c.367-12923_367-12918dup
DPP6 transcript variant 2	NM_001936.3:c.367-12939=	NM_001936.3:c.367-12929_367-12918del	NM_001936.3:c.367-12926_367-12918del	NM_001936.3:c.367-12924_367-12918del	NM_001936.3:c.367-12923_367-12918del	NM_001936.3:c.367-12922_367-12918del	NM_001936.3:c.367-12921_367-12918del	NM_001936.3:c.367-12920_367-12918del	NM_001936.3:c.367-12919_367-12918del	NM_001936.3:c.367-12918del	NM_001936.3:c.367-12918dup	NM_001936.3:c.367-12919_367-12918dup	NM_001936.3:c.367-12920_367-12918dup	NM_001936.3:c.367-12921_367-12918dup	NM_001936.3:c.367-12923_367-12918dup
DPP6 transcript variant 2	NM_001936.5:c.367-12939=	NM_001936.5:c.367-12929_367-12918del	NM_001936.5:c.367-12926_367-12918del	NM_001936.5:c.367-12924_367-12918del	NM_001936.5:c.367-12923_367-12918del	NM_001936.5:c.367-12922_367-12918del	NM_001936.5:c.367-12921_367-12918del	NM_001936.5:c.367-12920_367-12918del	NM_001936.5:c.367-12919_367-12918del	NM_001936.5:c.367-12918del	NM_001936.5:c.367-12918dup	NM_001936.5:c.367-12919_367-12918dup	NM_001936.5:c.367-12920_367-12918dup	NM_001936.5:c.367-12921_367-12918dup	NM_001936.5:c.367-12923_367-12918dup
DPP6 transcript variant 1	NM_130797.2:c.553-12939=	NM_130797.2:c.553-12929_553-12918del	NM_130797.2:c.553-12926_553-12918del	NM_130797.2:c.553-12924_553-12918del	NM_130797.2:c.553-12923_553-12918del	NM_130797.2:c.553-12922_553-12918del	NM_130797.2:c.553-12921_553-12918del	NM_130797.2:c.553-12920_553-12918del	NM_130797.2:c.553-12919_553-12918del	NM_130797.2:c.553-12918del	NM_130797.2:c.553-12918dup	NM_130797.2:c.553-12919_553-12918dup	NM_130797.2:c.553-12920_553-12918dup	NM_130797.2:c.553-12921_553-12918dup	NM_130797.2:c.553-12923_553-12918dup
DPP6 transcript variant 1	NM_130797.4:c.553-12939=	NM_130797.4:c.553-12929_553-12918del	NM_130797.4:c.553-12926_553-12918del	NM_130797.4:c.553-12924_553-12918del	NM_130797.4:c.553-12923_553-12918del	NM_130797.4:c.553-12922_553-12918del	NM_130797.4:c.553-12921_553-12918del	NM_130797.4:c.553-12920_553-12918del	NM_130797.4:c.553-12919_553-12918del	NM_130797.4:c.553-12918del	NM_130797.4:c.553-12918dup	NM_130797.4:c.553-12919_553-12918dup	NM_130797.4:c.553-12920_553-12918dup	NM_130797.4:c.553-12921_553-12918dup	NM_130797.4:c.553-12923_553-12918dup
DPP6 transcript variant X2	XM_047419951.1:c.370-12939=	XM_047419951.1:c.370-12929_370-12918del	XM_047419951.1:c.370-12926_370-12918del	XM_047419951.1:c.370-12924_370-12918del	XM_047419951.1:c.370-12923_370-12918del	XM_047419951.1:c.370-12922_370-12918del	XM_047419951.1:c.370-12921_370-12918del	XM_047419951.1:c.370-12920_370-12918del	XM_047419951.1:c.370-12919_370-12918del	XM_047419951.1:c.370-12918del	XM_047419951.1:c.370-12918dup	XM_047419951.1:c.370-12919_370-12918dup	XM_047419951.1:c.370-12920_370-12918dup	XM_047419951.1:c.370-12921_370-12918dup	XM_047419951.1:c.370-12923_370-12918dup

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#.

69 SubSNP, 38 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77936269	Dec 07, 2007 (129)
2	HUMANGENOME_JCVI	ss95480414	Feb 05, 2009 (130)
3	1000GENOMES	ss1367796624	Aug 21, 2014 (142)
4	EVA_UK10K_ALSPAC	ss1705897980	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1705898141	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1710361035	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1710361037	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1710361072	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710361074	Apr 01, 2015 (144)
10	SWEGEN	ss3002346634	Nov 08, 2017 (151)
11	MCHAISSO	ss3065167129	Nov 08, 2017 (151)
12	EVA_DECODE	ss3721049564	Jul 13, 2019 (153)
13	EVA_DECODE	ss3721049565	Jul 13, 2019 (153)
14	EVA_DECODE	ss3721049566	Jul 13, 2019 (153)
15	EVA_DECODE	ss3721049567	Jul 13, 2019 (153)
16	EVA_DECODE	ss3721049568	Jul 13, 2019 (153)
17	EVA_DECODE	ss3721049569	Jul 13, 2019 (153)
18	PACBIO	ss3791281043	Jul 13, 2019 (153)
19	PACBIO	ss3791281044	Jul 13, 2019 (153)
20	PACBIO	ss3796161383	Jul 13, 2019 (153)
21	KHV_HUMAN_GENOMES	ss3810549096	Jul 13, 2019 (153)
22	EVA	ss3830911660	Apr 26, 2020 (154)
23	KOGIC	ss3962934839	Apr 26, 2020 (154)
24	KOGIC	ss3962934840	Apr 26, 2020 (154)
25	KOGIC	ss3962934841	Apr 26, 2020 (154)
26	KOGIC	ss3962934842	Apr 26, 2020 (154)
27	KOGIC	ss3962934843	Apr 26, 2020 (154)
28	GNOMAD	ss4176237844	Apr 26, 2021 (155)
29	GNOMAD	ss4176237845	Apr 26, 2021 (155)
30	GNOMAD	ss4176237846	Apr 26, 2021 (155)
31	GNOMAD	ss4176237847	Apr 26, 2021 (155)
32	GNOMAD	ss4176237848	Apr 26, 2021 (155)
33	GNOMAD	ss4176237849	Apr 26, 2021 (155)
34	GNOMAD	ss4176237850	Apr 26, 2021 (155)
35	GNOMAD	ss4176237851	Apr 26, 2021 (155)
36	GNOMAD	ss4176237852	Apr 26, 2021 (155)
37	GNOMAD	ss4176237853	Apr 26, 2021 (155)
38	GNOMAD	ss4176237854	Apr 26, 2021 (155)
39	GNOMAD	ss4176237855	Apr 26, 2021 (155)
40	GNOMAD	ss4176237856	Apr 26, 2021 (155)
41	TOPMED	ss4769884748	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5186418009	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5186418010	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5186418011	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5186418012	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5186418013	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5186418014	Apr 26, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5275391226	Oct 16, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5275391227	Oct 16, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5275391228	Oct 16, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5275391229	Oct 16, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5275391230	Oct 16, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5275391231	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5472183925	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5472183926	Oct 16, 2022 (156)
56	HUGCELL_USP	ss5472183927	Oct 16, 2022 (156)
57	HUGCELL_USP	ss5472183928	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5472183929	Oct 16, 2022 (156)
59	HUGCELL_USP	ss5472183930	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5727675749	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5727675750	Oct 16, 2022 (156)
62	TOMMO_GENOMICS	ss5727675751	Oct 16, 2022 (156)
63	TOMMO_GENOMICS	ss5727675752	Oct 16, 2022 (156)
64	TOMMO_GENOMICS	ss5727675753	Oct 16, 2022 (156)
65	TOMMO_GENOMICS	ss5727675754	Oct 16, 2022 (156)
66	EVA	ss5823777177	Oct 16, 2022 (156)
67	EVA	ss5823777178	Oct 16, 2022 (156)
68	EVA	ss5823777179	Oct 16, 2022 (156)
69	EVA	ss5856168849	Oct 16, 2022 (156)
70	1000Genomes	NC_000007.13 - 154250988	Oct 12, 2018 (152)
71	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 22210295 (NC_000007.13:154250988:AA: 1925/3854) Row 22210296 (NC_000007.13:154250987:AAAA: 839/3854)	-	Oct 12, 2018 (152)
72	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 22210295 (NC_000007.13:154250988:AA: 1925/3854) Row 22210296 (NC_000007.13:154250987:AAAA: 839/3854)	-	Oct 12, 2018 (152)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281866380 (NC_000007.14:154553902::A 4183/94604) Row 281866381 (NC_000007.14:154553902::AA 437/94866) Row 281866382 (NC_000007.14:154553902::AAA 8/94908)...	-	Apr 26, 2021 (155)
86	Korean Genome Project Submission ignored due to conflicting rows: Row 19312840 (NC_000007.14:154553906::A 259/1806) Row 19312841 (NC_000007.14:154553905:A: 271/1806) Row 19312842 (NC_000007.14:154553904:AA: 133/1806)...	-	Apr 26, 2020 (154)
87	Korean Genome Project Submission ignored due to conflicting rows: Row 19312840 (NC_000007.14:154553906::A 259/1806) Row 19312841 (NC_000007.14:154553905:A: 271/1806) Row 19312842 (NC_000007.14:154553904:AA: 133/1806)...	-	Apr 26, 2020 (154)
88	Korean Genome Project Submission ignored due to conflicting rows: Row 19312840 (NC_000007.14:154553906::A 259/1806) Row 19312841 (NC_000007.14:154553905:A: 271/1806) Row 19312842 (NC_000007.14:154553904:AA: 133/1806)...	-	Apr 26, 2020 (154)
89	Korean Genome Project Submission ignored due to conflicting rows: Row 19312840 (NC_000007.14:154553906::A 259/1806) Row 19312841 (NC_000007.14:154553905:A: 271/1806) Row 19312842 (NC_000007.14:154553904:AA: 133/1806)...	-	Apr 26, 2020 (154)
90	Korean Genome Project Submission ignored due to conflicting rows: Row 19312840 (NC_000007.14:154553906::A 259/1806) Row 19312841 (NC_000007.14:154553905:A: 271/1806) Row 19312842 (NC_000007.14:154553904:AA: 133/1806)...	-	Apr 26, 2020 (154)
91	8.3KJPN Submission ignored due to conflicting rows: Row 44387316 (NC_000007.13:154250987:AAA: 795/16752) Row 44387317 (NC_000007.13:154250987:AA: 648/16752) Row 44387318 (NC_000007.13:154250987:A: 753/16752)...	-	Apr 26, 2021 (155)
92	8.3KJPN Submission ignored due to conflicting rows: Row 44387316 (NC_000007.13:154250987:AAA: 795/16752) Row 44387317 (NC_000007.13:154250987:AA: 648/16752) Row 44387318 (NC_000007.13:154250987:A: 753/16752)...	-	Apr 26, 2021 (155)
93	8.3KJPN Submission ignored due to conflicting rows: Row 44387316 (NC_000007.13:154250987:AAA: 795/16752) Row 44387317 (NC_000007.13:154250987:AA: 648/16752) Row 44387318 (NC_000007.13:154250987:A: 753/16752)...	-	Apr 26, 2021 (155)
94	8.3KJPN Submission ignored due to conflicting rows: Row 44387316 (NC_000007.13:154250987:AAA: 795/16752) Row 44387317 (NC_000007.13:154250987:AA: 648/16752) Row 44387318 (NC_000007.13:154250987:A: 753/16752)...	-	Apr 26, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 44387316 (NC_000007.13:154250987:AAA: 795/16752) Row 44387317 (NC_000007.13:154250987:AA: 648/16752) Row 44387318 (NC_000007.13:154250987:A: 753/16752)...	-	Apr 26, 2021 (155)
96	8.3KJPN Submission ignored due to conflicting rows: Row 44387316 (NC_000007.13:154250987:AAA: 795/16752) Row 44387317 (NC_000007.13:154250987:AA: 648/16752) Row 44387318 (NC_000007.13:154250987:A: 753/16752)...	-	Apr 26, 2021 (155)
97	14KJPN Submission ignored due to conflicting rows: Row 61512853 (NC_000007.14:154553902::A 851/28258) Row 61512854 (NC_000007.14:154553902:AAA: 1441/28258) Row 61512855 (NC_000007.14:154553902:A: 1385/28258)...	-	Oct 16, 2022 (156)
98	14KJPN Submission ignored due to conflicting rows: Row 61512853 (NC_000007.14:154553902::A 851/28258) Row 61512854 (NC_000007.14:154553902:AAA: 1441/28258) Row 61512855 (NC_000007.14:154553902:A: 1385/28258)...	-	Oct 16, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 61512853 (NC_000007.14:154553902::A 851/28258) Row 61512854 (NC_000007.14:154553902:AAA: 1441/28258) Row 61512855 (NC_000007.14:154553902:A: 1385/28258)...	-	Oct 16, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 61512853 (NC_000007.14:154553902::A 851/28258) Row 61512854 (NC_000007.14:154553902:AAA: 1441/28258) Row 61512855 (NC_000007.14:154553902:A: 1385/28258)...	-	Oct 16, 2022 (156)
101	14KJPN Submission ignored due to conflicting rows: Row 61512853 (NC_000007.14:154553902::A 851/28258) Row 61512854 (NC_000007.14:154553902:AAA: 1441/28258) Row 61512855 (NC_000007.14:154553902:A: 1385/28258)...	-	Oct 16, 2022 (156)
102	14KJPN Submission ignored due to conflicting rows: Row 61512853 (NC_000007.14:154553902::A 851/28258) Row 61512854 (NC_000007.14:154553902:AAA: 1441/28258) Row 61512855 (NC_000007.14:154553902:A: 1385/28258)...	-	Oct 16, 2022 (156)
103	TopMed	NC_000007.14 - 154553903	Apr 26, 2021 (155)
104	UK 10K study - Twins Submission ignored due to conflicting rows: Row 22210295 (NC_000007.13:154250988:AA: 1814/3708) Row 22210296 (NC_000007.13:154250987:AAAA: 821/3708)	-	Oct 12, 2018 (152)
105	UK 10K study - Twins Submission ignored due to conflicting rows: Row 22210295 (NC_000007.13:154250988:AA: 1814/3708) Row 22210296 (NC_000007.13:154250987:AAAA: 821/3708)	-	Oct 12, 2018 (152)
106	UK 10K study - Twins Submission ignored due to conflicting rows: Row 22210295 (NC_000007.13:154250988:AAA: 1814/3708) Row 22210296 (NC_000007.13:154250987:AAAA: 821/3708) Row 22210297 (NC_000007.13:154250989:AA: 737/3708)	-	Apr 26, 2020 (154)
107	ALFA	NC_000007.14 - 154553903	Apr 26, 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)
rs72102933	May 11, 2012 (137)
rs67557030	Feb 27, 2009 (130)
rs67557031	Feb 27, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
607262307, ss4176237856, ss4769884748	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
7085438870	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
7085438870	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4176237855	NC_000007.14:154553902:AAAAAAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
7085438870	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4176237854, ss5275391231	NC_000007.14:154553902:AAAAAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
7085438870	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3721049569, ss4176237853, ss5275391228, ss5472183928	NC_000007.14:154553902:AAAAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7085438870	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1705897980, ss1705898141, ss3002346634, ss5186418014, ss5823777178	NC_000007.13:154250987:AAAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3962934843, ss4176237852, ss5472183930, ss5727675754	NC_000007.14:154553902:AAAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7085438870	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3721049568	NC_000007.14:154553903:AAAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
39922347, ss1367796624, ss5186418009, ss5823777177	NC_000007.13:154250987:AAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss1710361035, ss1710361072	NC_000007.13:154250988:AAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3810549096, ss4176237851, ss5275391230, ss5472183925, ss5727675750, ss5856168849	NC_000007.14:154553902:AAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
7085438870	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3962934842	NC_000007.14:154553903:AAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3721049567	NC_000007.14:154553904:AAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss95480414	NT_007914.15:14846629:AAA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss77936269	NC_000007.11:153688655:AA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3791281043, ss3796161383, ss5186418010, ss5823777179	NC_000007.13:154250987:AA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
	NC_000007.13:154250988:AA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss1710361037, ss1710361074	NC_000007.13:154250989:AA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3065167129, ss4176237850, ss5275391226, ss5472183929, ss5727675752	NC_000007.14:154553902:AA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
7085438870	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3962934841	NC_000007.14:154553904:AA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3721049566	NC_000007.14:154553905:AA:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3791281044, ss5186418011	NC_000007.13:154250987:A:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4176237849, ss5275391227, ss5472183926, ss5727675751	NC_000007.14:154553902:A:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
7085438870	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3962934840	NC_000007.14:154553905:A:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3721049565	NC_000007.14:154553906:A:	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3830911660, ss5186418012	NC_000007.13:154250987::A	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4176237844, ss5275391229, ss5472183927, ss5727675749	NC_000007.14:154553902::A	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
7085438870	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3962934839	NC_000007.14:154553906::A	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3721049564	NC_000007.14:154553907::A	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5186418013	NC_000007.13:154250987::AA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4176237845, ss5727675753	NC_000007.14:154553902::AA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
7085438870	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4176237846	NC_000007.14:154553902::AAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7085438870	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4176237847	NC_000007.14:154553902::AAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4176237848	NC_000007.14:154553902::AAAAAA	NC_000007.14:154553902:AAAAAAAAAAA… NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs56020996

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

rs56020996