Name: rs1180915172
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.

rs1180915172

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:58521367-58521384 (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)₁₀ / del(A)₇ / delAAA / delA…
del(A)₁₀ / del(A)₇ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₇=0.000008 (2/264690, TOPMED)
dupA=0.01243 (203/16326, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ZBTB45 : 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	16326	AAAAAAAAAAAAAAAAAA=0.97507	AAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.01243, AAAAAAAAAAAAAAAAAAAA=0.00515, AAAAAAAAAAAAAAAAAAAAAA=0.00331, AAAAAAAAAAAAAAAAAAAAAAA=0.00276, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00055, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00074, AAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000	0.978989	0.002876	0.018134	32
European	Sub	12586	AAAAAAAAAAAAAAAAAA=0.96774	AAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.01605, AAAAAAAAAAAAAAAAAAAA=0.00667, AAAAAAAAAAAAAAAAAAAAAA=0.00429, AAAAAAAAAAAAAAAAAAAAAAA=0.00358, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00072, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00095, AAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000	0.972739	0.003754	0.023506	32
African	Sub	2482	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	104	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African American	Sub	2378	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	88	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	70	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	112	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	550	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	92	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	416	AAAAAAAAAAAAAAAAAA=0.998	AAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.002, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	0.995192	0.0	0.004808	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(A)₁₈=0.999992	del(A)₇=0.000008
Allele Frequency Aggregator	Total	Global	16326	(A)₁₈=0.97507	del(A)₁₀=0.00000, del(A)₇=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00000, dupA=0.01243, dupAA=0.00515, dupAAA=0.00000, dup(A)₄=0.00331, dup(A)₅=0.00276, dup(A)₇=0.00074, dup(A)₈=0.00000, dup(A)₉=0.00055
Allele Frequency Aggregator	European	Sub	12586	(A)₁₈=0.96774	del(A)₁₀=0.00000, del(A)₇=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00000, dupA=0.01605, dupAA=0.00667, dupAAA=0.00000, dup(A)₄=0.00429, dup(A)₅=0.00358, dup(A)₇=0.00095, dup(A)₈=0.00000, dup(A)₉=0.00072
Allele Frequency Aggregator	African	Sub	2482	(A)₁₈=1.0000	del(A)₁₀=0.0000, del(A)₇=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₇=0.0000, dup(A)₈=0.0000, dup(A)₉=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	550	(A)₁₈=1.000	del(A)₁₀=0.000, del(A)₇=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₇=0.000, dup(A)₈=0.000, dup(A)₉=0.000
Allele Frequency Aggregator	Other	Sub	416	(A)₁₈=0.998	del(A)₁₀=0.000, del(A)₇=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.002, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₇=0.000, dup(A)₈=0.000, dup(A)₉=0.000
Allele Frequency Aggregator	Latin American 1	Sub	112	(A)₁₈=1.000	del(A)₁₀=0.000, del(A)₇=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₇=0.000, dup(A)₈=0.000, dup(A)₉=0.000
Allele Frequency Aggregator	South Asian	Sub	92	(A)₁₈=1.00	del(A)₁₀=0.00, del(A)₇=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₇=0.00, dup(A)₈=0.00, dup(A)₉=0.00
Allele Frequency Aggregator	Asian	Sub	88	(A)₁₈=1.00	del(A)₁₀=0.00, del(A)₇=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₇=0.00, dup(A)₈=0.00, dup(A)₉=0.00

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 19	NC_000019.10:g.58521375_58521384del
GRCh38.p14 chr 19	NC_000019.10:g.58521378_58521384del
GRCh38.p14 chr 19	NC_000019.10:g.58521382_58521384del
GRCh38.p14 chr 19	NC_000019.10:g.58521383_58521384del
GRCh38.p14 chr 19	NC_000019.10:g.58521384del
GRCh38.p14 chr 19	NC_000019.10:g.58521384dup
GRCh38.p14 chr 19	NC_000019.10:g.58521383_58521384dup
GRCh38.p14 chr 19	NC_000019.10:g.58521382_58521384dup
GRCh38.p14 chr 19	NC_000019.10:g.58521381_58521384dup
GRCh38.p14 chr 19	NC_000019.10:g.58521380_58521384dup
GRCh38.p14 chr 19	NC_000019.10:g.58521379_58521384dup
GRCh38.p14 chr 19	NC_000019.10:g.58521378_58521384dup
GRCh38.p14 chr 19	NC_000019.10:g.58521377_58521384dup
GRCh38.p14 chr 19	NC_000019.10:g.58521376_58521384dup
GRCh37.p13 chr 19	NC_000019.9:g.59032742_59032751del
GRCh37.p13 chr 19	NC_000019.9:g.59032745_59032751del
GRCh37.p13 chr 19	NC_000019.9:g.59032749_59032751del
GRCh37.p13 chr 19	NC_000019.9:g.59032750_59032751del
GRCh37.p13 chr 19	NC_000019.9:g.59032751del
GRCh37.p13 chr 19	NC_000019.9:g.59032751dup
GRCh37.p13 chr 19	NC_000019.9:g.59032750_59032751dup
GRCh37.p13 chr 19	NC_000019.9:g.59032749_59032751dup
GRCh37.p13 chr 19	NC_000019.9:g.59032748_59032751dup
GRCh37.p13 chr 19	NC_000019.9:g.59032747_59032751dup
GRCh37.p13 chr 19	NC_000019.9:g.59032746_59032751dup
GRCh37.p13 chr 19	NC_000019.9:g.59032745_59032751dup
GRCh37.p13 chr 19	NC_000019.9:g.59032744_59032751dup
GRCh37.p13 chr 19	NC_000019.9:g.59032743_59032751dup

Gene: ZBTB45, zinc finger and BTB domain containing 45 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZBTB45 transcript variant 4	NM_001316980.2:c.1-3703_1… NM_001316980.2:c.1-3703_1-3694del	N/A	Intron Variant
ZBTB45 transcript variant 6	NM_001316982.2:c.1-3703_1… NM_001316982.2:c.1-3703_1-3694del	N/A	Intron Variant
ZBTB45 transcript variant 1	NM_001316978.2:c.	N/A	Genic Upstream Transcript Variant
ZBTB45 transcript variant 3	NM_001316979.2:c.	N/A	Genic Upstream Transcript Variant
ZBTB45 transcript variant 5	NM_001316981.2:c.	N/A	Genic Upstream Transcript Variant
ZBTB45 transcript variant 2	NM_032792.4:c.	N/A	Genic Upstream Transcript Variant
ZBTB45 transcript variant X1	XM_006723445.4: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)₁₈=	del(A)₁₀	del(A)₇	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉
GRCh38.p14 chr 19	NC_000019.10:g.58521367_58521384=	NC_000019.10:g.58521375_58521384del	NC_000019.10:g.58521378_58521384del	NC_000019.10:g.58521382_58521384del	NC_000019.10:g.58521383_58521384del	NC_000019.10:g.58521384del	NC_000019.10:g.58521384dup	NC_000019.10:g.58521383_58521384dup	NC_000019.10:g.58521382_58521384dup	NC_000019.10:g.58521381_58521384dup	NC_000019.10:g.58521380_58521384dup	NC_000019.10:g.58521379_58521384dup	NC_000019.10:g.58521378_58521384dup	NC_000019.10:g.58521377_58521384dup	NC_000019.10:g.58521376_58521384dup
GRCh37.p13 chr 19	NC_000019.9:g.59032734_59032751=	NC_000019.9:g.59032742_59032751del	NC_000019.9:g.59032745_59032751del	NC_000019.9:g.59032749_59032751del	NC_000019.9:g.59032750_59032751del	NC_000019.9:g.59032751del	NC_000019.9:g.59032751dup	NC_000019.9:g.59032750_59032751dup	NC_000019.9:g.59032749_59032751dup	NC_000019.9:g.59032748_59032751dup	NC_000019.9:g.59032747_59032751dup	NC_000019.9:g.59032746_59032751dup	NC_000019.9:g.59032745_59032751dup	NC_000019.9:g.59032744_59032751dup	NC_000019.9:g.59032743_59032751dup
ZBTB45 transcript variant 4	NM_001316980.2:c.1-3694=	NM_001316980.2:c.1-3703_1-3694del	NM_001316980.2:c.1-3700_1-3694del	NM_001316980.2:c.1-3696_1-3694del	NM_001316980.2:c.1-3695_1-3694del	NM_001316980.2:c.1-3694del	NM_001316980.2:c.1-3694dup	NM_001316980.2:c.1-3695_1-3694dup	NM_001316980.2:c.1-3696_1-3694dup	NM_001316980.2:c.1-3697_1-3694dup	NM_001316980.2:c.1-3698_1-3694dup	NM_001316980.2:c.1-3699_1-3694dup	NM_001316980.2:c.1-3700_1-3694dup	NM_001316980.2:c.1-3701_1-3694dup	NM_001316980.2:c.1-3702_1-3694dup
ZBTB45 transcript variant 6	NM_001316982.2:c.1-3694=	NM_001316982.2:c.1-3703_1-3694del	NM_001316982.2:c.1-3700_1-3694del	NM_001316982.2:c.1-3696_1-3694del	NM_001316982.2:c.1-3695_1-3694del	NM_001316982.2:c.1-3694del	NM_001316982.2:c.1-3694dup	NM_001316982.2:c.1-3695_1-3694dup	NM_001316982.2:c.1-3696_1-3694dup	NM_001316982.2:c.1-3697_1-3694dup	NM_001316982.2:c.1-3698_1-3694dup	NM_001316982.2:c.1-3699_1-3694dup	NM_001316982.2:c.1-3700_1-3694dup	NM_001316982.2:c.1-3701_1-3694dup	NM_001316982.2:c.1-3702_1-3694dup

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#.

39 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss3017742107	Nov 08, 2017 (151)
2	EVA_DECODE	ss3703082000	Jul 13, 2019 (153)
3	EVA_DECODE	ss3703082001	Jul 13, 2019 (153)
4	EVA_DECODE	ss3703082002	Jul 13, 2019 (153)
5	EVA_DECODE	ss3703082003	Jul 13, 2019 (153)
6	EVA_DECODE	ss3703082004	Jul 13, 2019 (153)
7	KOGIC	ss3981676260	Apr 27, 2020 (154)
8	KOGIC	ss3981676261	Apr 27, 2020 (154)
9	KOGIC	ss3981676262	Apr 27, 2020 (154)
10	KOGIC	ss3981676263	Apr 27, 2020 (154)
11	GNOMAD	ss4333803107	Apr 27, 2021 (155)
12	GNOMAD	ss4333803108	Apr 27, 2021 (155)
13	GNOMAD	ss4333803109	Apr 27, 2021 (155)
14	GNOMAD	ss4333803110	Apr 27, 2021 (155)
15	GNOMAD	ss4333803111	Apr 27, 2021 (155)
16	GNOMAD	ss4333803112	Apr 27, 2021 (155)
17	GNOMAD	ss4333803113	Apr 27, 2021 (155)
18	GNOMAD	ss4333803114	Apr 27, 2021 (155)
19	GNOMAD	ss4333803115	Apr 27, 2021 (155)
20	GNOMAD	ss4333803116	Apr 27, 2021 (155)
21	GNOMAD	ss4333803117	Apr 27, 2021 (155)
22	GNOMAD	ss4333803118	Apr 27, 2021 (155)
23	TOPMED	ss5079708431	Apr 27, 2021 (155)
24	TOMMO_GENOMICS	ss5228500856	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5228500857	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5228500858	Apr 27, 2021 (155)
27	TOMMO_GENOMICS	ss5228500859	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5228500860	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5228500861	Apr 27, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5307817266	Oct 13, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5307817268	Oct 13, 2022 (156)
32	HUGCELL_USP	ss5500243702	Oct 13, 2022 (156)
33	HUGCELL_USP	ss5500243703	Oct 13, 2022 (156)
34	HUGCELL_USP	ss5500243704	Oct 13, 2022 (156)
35	TOMMO_GENOMICS	ss5787389058	Oct 13, 2022 (156)
36	TOMMO_GENOMICS	ss5787389059	Oct 13, 2022 (156)
37	TOMMO_GENOMICS	ss5787389060	Oct 13, 2022 (156)
38	TOMMO_GENOMICS	ss5787389062	Oct 13, 2022 (156)
39	YY_MCH	ss5817747420	Oct 13, 2022 (156)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544353268 (NC_000019.10:58521366::A 5942/85138) Row 544353269 (NC_000019.10:58521366::AA 115/85348) Row 544353270 (NC_000019.10:58521366::AAA 5/85508)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544353268 (NC_000019.10:58521366::A 5942/85138) Row 544353269 (NC_000019.10:58521366::AA 115/85348) Row 544353270 (NC_000019.10:58521366::AAA 5/85508)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544353268 (NC_000019.10:58521366::A 5942/85138) Row 544353269 (NC_000019.10:58521366::AA 115/85348) Row 544353270 (NC_000019.10:58521366::AAA 5/85508)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544353268 (NC_000019.10:58521366::A 5942/85138) Row 544353269 (NC_000019.10:58521366::AA 115/85348) Row 544353270 (NC_000019.10:58521366::AAA 5/85508)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544353268 (NC_000019.10:58521366::A 5942/85138) Row 544353269 (NC_000019.10:58521366::AA 115/85348) Row 544353270 (NC_000019.10:58521366::AAA 5/85508)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544353268 (NC_000019.10:58521366::A 5942/85138) Row 544353269 (NC_000019.10:58521366::AA 115/85348) Row 544353270 (NC_000019.10:58521366::AAA 5/85508)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544353268 (NC_000019.10:58521366::A 5942/85138) Row 544353269 (NC_000019.10:58521366::AA 115/85348) Row 544353270 (NC_000019.10:58521366::AAA 5/85508)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544353268 (NC_000019.10:58521366::A 5942/85138) Row 544353269 (NC_000019.10:58521366::AA 115/85348) Row 544353270 (NC_000019.10:58521366::AAA 5/85508)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544353268 (NC_000019.10:58521366::A 5942/85138) Row 544353269 (NC_000019.10:58521366::AA 115/85348) Row 544353270 (NC_000019.10:58521366::AAA 5/85508)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544353268 (NC_000019.10:58521366::A 5942/85138) Row 544353269 (NC_000019.10:58521366::AA 115/85348) Row 544353270 (NC_000019.10:58521366::AAA 5/85508)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544353268 (NC_000019.10:58521366::A 5942/85138) Row 544353269 (NC_000019.10:58521366::AA 115/85348) Row 544353270 (NC_000019.10:58521366::AAA 5/85508)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544353268 (NC_000019.10:58521366::A 5942/85138) Row 544353269 (NC_000019.10:58521366::AA 115/85348) Row 544353270 (NC_000019.10:58521366::AAA 5/85508)...	-	Apr 27, 2021 (155)
52	Korean Genome Project Submission ignored due to conflicting rows: Row 38054261 (NC_000019.10:58521368::AA 40/1828) Row 38054262 (NC_000019.10:58521368::A 179/1828) Row 38054263 (NC_000019.10:58521368::AAAAA 3/1828)...	-	Apr 27, 2020 (154)
53	Korean Genome Project Submission ignored due to conflicting rows: Row 38054261 (NC_000019.10:58521368::AA 40/1828) Row 38054262 (NC_000019.10:58521368::A 179/1828) Row 38054263 (NC_000019.10:58521368::AAAAA 3/1828)...	-	Apr 27, 2020 (154)
54	Korean Genome Project Submission ignored due to conflicting rows: Row 38054261 (NC_000019.10:58521368::AA 40/1828) Row 38054262 (NC_000019.10:58521368::A 179/1828) Row 38054263 (NC_000019.10:58521368::AAAAA 3/1828)...	-	Apr 27, 2020 (154)
55	Korean Genome Project Submission ignored due to conflicting rows: Row 38054261 (NC_000019.10:58521368::AA 40/1828) Row 38054262 (NC_000019.10:58521368::A 179/1828) Row 38054263 (NC_000019.10:58521368::AAAAA 3/1828)...	-	Apr 27, 2020 (154)
56	8.3KJPN Submission ignored due to conflicting rows: Row 86470163 (NC_000019.9:59032733::AA 28/16110) Row 86470164 (NC_000019.9:59032733::A 267/16110) Row 86470165 (NC_000019.9:59032733::AAAA 100/16110)...	-	Apr 27, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 86470163 (NC_000019.9:59032733::AA 28/16110) Row 86470164 (NC_000019.9:59032733::A 267/16110) Row 86470165 (NC_000019.9:59032733::AAAA 100/16110)...	-	Apr 27, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 86470163 (NC_000019.9:59032733::AA 28/16110) Row 86470164 (NC_000019.9:59032733::A 267/16110) Row 86470165 (NC_000019.9:59032733::AAAA 100/16110)...	-	Apr 27, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 86470163 (NC_000019.9:59032733::AA 28/16110) Row 86470164 (NC_000019.9:59032733::A 267/16110) Row 86470165 (NC_000019.9:59032733::AAAA 100/16110)...	-	Apr 27, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 86470163 (NC_000019.9:59032733::AA 28/16110) Row 86470164 (NC_000019.9:59032733::A 267/16110) Row 86470165 (NC_000019.9:59032733::AAAA 100/16110)...	-	Apr 27, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 86470163 (NC_000019.9:59032733::AA 28/16110) Row 86470164 (NC_000019.9:59032733::A 267/16110) Row 86470165 (NC_000019.9:59032733::AAAA 100/16110)...	-	Apr 27, 2021 (155)
62	14KJPN Submission ignored due to conflicting rows: Row 121226162 (NC_000019.10:58521366::AAAA 112/25538) Row 121226163 (NC_000019.10:58521366::AA 53/25538) Row 121226164 (NC_000019.10:58521366::A 372/25538)...	-	Oct 13, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 121226162 (NC_000019.10:58521366::AAAA 112/25538) Row 121226163 (NC_000019.10:58521366::AA 53/25538) Row 121226164 (NC_000019.10:58521366::A 372/25538)...	-	Oct 13, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 121226162 (NC_000019.10:58521366::AAAA 112/25538) Row 121226163 (NC_000019.10:58521366::AA 53/25538) Row 121226164 (NC_000019.10:58521366::A 372/25538)...	-	Oct 13, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 121226162 (NC_000019.10:58521366::AAAA 112/25538) Row 121226163 (NC_000019.10:58521366::AA 53/25538) Row 121226164 (NC_000019.10:58521366::A 372/25538)...	-	Oct 13, 2022 (156)
66	TopMed	NC_000019.10 - 58521367	Apr 27, 2021 (155)
67	ALFA	NC_000019.10 - 58521367	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4333803118	NC_000019.10:58521366:AAAAAAAAAA:	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
295254095, ss4333803117, ss5079708431	NC_000019.10:58521366:AAAAAAA:	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4333803116	NC_000019.10:58521366:AAA:	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3703082004, ss3981676263, ss4333803115	NC_000019.10:58521366:AA:	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3017742107	NC_000019.9:59032733:A:	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4333803114, ss5500243704	NC_000019.10:58521366:A:	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3703082003	NC_000019.10:58521367:A:	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5228500857	NC_000019.9:59032733::A	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4333803107, ss5307817268, ss5500243702, ss5787389060, ss5817747420	NC_000019.10:58521366::A	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3703082002, ss3981676261	NC_000019.10:58521368::A	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5228500856	NC_000019.9:59032733::AA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4333803108, ss5307817266, ss5500243703, ss5787389059	NC_000019.10:58521366::AA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3703082001, ss3981676260	NC_000019.10:58521368::AA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4333803109	NC_000019.10:58521366::AAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3703082000	NC_000019.10:58521368::AAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5228500858	NC_000019.9:59032733::AAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4333803110, ss5787389058	NC_000019.10:58521366::AAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5228500859	NC_000019.9:59032733::AAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4333803111	NC_000019.10:58521366::AAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3981676262	NC_000019.10:58521368::AAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4333803112	NC_000019.10:58521366::AAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5228500860	NC_000019.9:59032733::AAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4333803113	NC_000019.10:58521366::AAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5228500861	NC_000019.9:59032733::AAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5787389062	NC_000019.10:58521366::AAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
5499524973	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:58521366:AAAAAAAAAAAA… NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs1180915172

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

rs1180915172