Name: rs575325735
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.

rs575325735

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:66813843-66813858 (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)₉ / del(A)₈ / del(A)₇ / del(…
del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₉=0.0000 (0/8756, ALFA)
del(A)₈=0.0000 (0/8756, ALFA)
del(A)₇=0.0000 (0/8756, ALFA) (+ 9 more)
del(A)₆=0.0000 (0/8756, ALFA)
del(A)₄=0.0000 (0/8756, ALFA)
delAAA=0.0000 (0/8756, ALFA)
delAA=0.0000 (0/8756, ALFA)
delA=0.0000 (0/8756, ALFA)
dupA=0.0000 (0/8756, ALFA)
dupAA=0.0000 (0/8756, ALFA)
dupAAA=0.0000 (0/8756, ALFA)
delA=0.30 (12/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GTF2IRD1P1 : 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	HWEP
Total	Global	8756	AAAAAAAAAAAAAAAA=1.0000	AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	5418	AAAAAAAAAAAAAAAA=1.0000	AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	2308	AAAAAAAAAAAAAAAA=1.0000	AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	90	AAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	2218	AAAAAAAAAAAAAAAA=1.0000	AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	54	AAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	42	AAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	12	AAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	116	AAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Latin American 2	Sub	430	AAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	70	AAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	360	AAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A

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	8756	(A)₁₆=1.0000	del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	5418	(A)₁₆=1.0000	del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	2308	(A)₁₆=1.0000	del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	430	(A)₁₆=1.000	del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=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	360	(A)₁₆=1.000	del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=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 1	Sub	116	(A)₁₆=1.000	del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=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	South Asian	Sub	70	(A)₁₆=1.00	del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=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	54	(A)₁₆=1.00	del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=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
The Danish reference pan genome	Danish	Study-wide	40	(A)₁₆=0.70	delA=0.30

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.66813850_66813858del
GRCh38.p14 chr 7	NC_000007.14:g.66813851_66813858del
GRCh38.p14 chr 7	NC_000007.14:g.66813852_66813858del
GRCh38.p14 chr 7	NC_000007.14:g.66813853_66813858del
GRCh38.p14 chr 7	NC_000007.14:g.66813855_66813858del
GRCh38.p14 chr 7	NC_000007.14:g.66813856_66813858del
GRCh38.p14 chr 7	NC_000007.14:g.66813857_66813858del
GRCh38.p14 chr 7	NC_000007.14:g.66813858del
GRCh38.p14 chr 7	NC_000007.14:g.66813858dup
GRCh38.p14 chr 7	NC_000007.14:g.66813857_66813858dup
GRCh38.p14 chr 7	NC_000007.14:g.66813856_66813858dup
GRCh37.p13 chr 7	NC_000007.13:g.66278837_66278845del
GRCh37.p13 chr 7	NC_000007.13:g.66278838_66278845del
GRCh37.p13 chr 7	NC_000007.13:g.66278839_66278845del
GRCh37.p13 chr 7	NC_000007.13:g.66278840_66278845del
GRCh37.p13 chr 7	NC_000007.13:g.66278842_66278845del
GRCh37.p13 chr 7	NC_000007.13:g.66278843_66278845del
GRCh37.p13 chr 7	NC_000007.13:g.66278844_66278845del
GRCh37.p13 chr 7	NC_000007.13:g.66278845del
GRCh37.p13 chr 7	NC_000007.13:g.66278845dup
GRCh37.p13 chr 7	NC_000007.13:g.66278844_66278845dup
GRCh37.p13 chr 7	NC_000007.13:g.66278843_66278845dup

Gene: GTF2IRD1P1, GTF2I repeat domain containing 1 pseudogene 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GTF2IRD1P1 transcript	NR_003934.2: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	(A)₁₆=	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 7	NC_000007.14:g.66813843_66813858=	NC_000007.14:g.66813850_66813858del	NC_000007.14:g.66813851_66813858del	NC_000007.14:g.66813852_66813858del	NC_000007.14:g.66813853_66813858del	NC_000007.14:g.66813855_66813858del	NC_000007.14:g.66813856_66813858del	NC_000007.14:g.66813857_66813858del	NC_000007.14:g.66813858del	NC_000007.14:g.66813858dup	NC_000007.14:g.66813857_66813858dup	NC_000007.14:g.66813856_66813858dup
GRCh37.p13 chr 7	NC_000007.13:g.66278830_66278845=	NC_000007.13:g.66278837_66278845del	NC_000007.13:g.66278838_66278845del	NC_000007.13:g.66278839_66278845del	NC_000007.13:g.66278840_66278845del	NC_000007.13:g.66278842_66278845del	NC_000007.13:g.66278843_66278845del	NC_000007.13:g.66278844_66278845del	NC_000007.13:g.66278845del	NC_000007.13:g.66278845dup	NC_000007.13:g.66278844_66278845dup	NC_000007.13:g.66278843_66278845dup

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#.

43 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSIP	ss947197126	Aug 21, 2014 (142)
2	EVA_GENOME_DK	ss1577007813	Apr 01, 2015 (144)
3	EVA_DECODE	ss3719859156	Jul 13, 2019 (153)
4	EVA_DECODE	ss3719859157	Jul 13, 2019 (153)
5	EVA_DECODE	ss3719859158	Jul 13, 2019 (153)
6	EVA_DECODE	ss3719859159	Jul 13, 2019 (153)
7	EVA_DECODE	ss3719859160	Jul 13, 2019 (153)
8	PACBIO	ss3785844606	Jul 13, 2019 (153)
9	EVA	ss3830613150	Apr 26, 2020 (154)
10	EVA	ss3838799864	Apr 26, 2020 (154)
11	EVA	ss3844254048	Apr 26, 2020 (154)
12	KOGIC	ss3961724376	Apr 26, 2020 (154)
13	KOGIC	ss3961724377	Apr 26, 2020 (154)
14	KOGIC	ss3961724378	Apr 26, 2020 (154)
15	GNOMAD	ss4165063161	Apr 26, 2021 (155)
16	GNOMAD	ss4165063162	Apr 26, 2021 (155)
17	GNOMAD	ss4165063163	Apr 26, 2021 (155)
18	GNOMAD	ss4165063164	Apr 26, 2021 (155)
19	GNOMAD	ss4165063165	Apr 26, 2021 (155)
20	GNOMAD	ss4165063166	Apr 26, 2021 (155)
21	GNOMAD	ss4165063167	Apr 26, 2021 (155)
22	GNOMAD	ss4165063168	Apr 26, 2021 (155)
23	GNOMAD	ss4165063169	Apr 26, 2021 (155)
24	GNOMAD	ss4165063170	Apr 26, 2021 (155)
25	TOPMED	ss4748706505	Apr 26, 2021 (155)
26	TOPMED	ss4748706506	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5183585437	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5183585438	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5183585439	Apr 26, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5273223852	Oct 14, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5273223853	Oct 14, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5273223854	Oct 14, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5273223855	Oct 14, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5273223856	Oct 14, 2022 (156)
35	HUGCELL_USP	ss5470297430	Oct 14, 2022 (156)
36	HUGCELL_USP	ss5470297432	Oct 14, 2022 (156)
37	HUGCELL_USP	ss5470297433	Oct 14, 2022 (156)
38	TOMMO_GENOMICS	ss5723968159	Oct 14, 2022 (156)
39	TOMMO_GENOMICS	ss5723968160	Oct 14, 2022 (156)
40	TOMMO_GENOMICS	ss5723968161	Oct 14, 2022 (156)
41	TOMMO_GENOMICS	ss5723968163	Oct 14, 2022 (156)
42	TOMMO_GENOMICS	ss5723968164	Oct 14, 2022 (156)
43	EVA	ss5855929820	Oct 14, 2022 (156)
44	The Danish reference pan genome	NC_000007.13 - 66278830	Apr 26, 2020 (154)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263938741 (NC_000007.14:66813842::A 587/63012) Row 263938742 (NC_000007.14:66813842::AA 5/63390) Row 263938743 (NC_000007.14:66813842::AAA 1/63402)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263938741 (NC_000007.14:66813842::A 587/63012) Row 263938742 (NC_000007.14:66813842::AA 5/63390) Row 263938743 (NC_000007.14:66813842::AAA 1/63402)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263938741 (NC_000007.14:66813842::A 587/63012) Row 263938742 (NC_000007.14:66813842::AA 5/63390) Row 263938743 (NC_000007.14:66813842::AAA 1/63402)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263938741 (NC_000007.14:66813842::A 587/63012) Row 263938742 (NC_000007.14:66813842::AA 5/63390) Row 263938743 (NC_000007.14:66813842::AAA 1/63402)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263938741 (NC_000007.14:66813842::A 587/63012) Row 263938742 (NC_000007.14:66813842::AA 5/63390) Row 263938743 (NC_000007.14:66813842::AAA 1/63402)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263938741 (NC_000007.14:66813842::A 587/63012) Row 263938742 (NC_000007.14:66813842::AA 5/63390) Row 263938743 (NC_000007.14:66813842::AAA 1/63402)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263938741 (NC_000007.14:66813842::A 587/63012) Row 263938742 (NC_000007.14:66813842::AA 5/63390) Row 263938743 (NC_000007.14:66813842::AAA 1/63402)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263938741 (NC_000007.14:66813842::A 587/63012) Row 263938742 (NC_000007.14:66813842::AA 5/63390) Row 263938743 (NC_000007.14:66813842::AAA 1/63402)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263938741 (NC_000007.14:66813842::A 587/63012) Row 263938742 (NC_000007.14:66813842::AA 5/63390) Row 263938743 (NC_000007.14:66813842::AAA 1/63402)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263938741 (NC_000007.14:66813842::A 587/63012) Row 263938742 (NC_000007.14:66813842::AA 5/63390) Row 263938743 (NC_000007.14:66813842::AAA 1/63402)...	-	Apr 26, 2021 (155)
55	Korean Genome Project Submission ignored due to conflicting rows: Row 18102377 (NC_000007.14:66813843:A: 634/1808) Row 18102378 (NC_000007.14:66813844::A 132/1808) Row 18102379 (NC_000007.14:66813842:AA: 26/1808)	-	Apr 26, 2020 (154)
56	Korean Genome Project Submission ignored due to conflicting rows: Row 18102377 (NC_000007.14:66813843:A: 634/1808) Row 18102378 (NC_000007.14:66813844::A 132/1808) Row 18102379 (NC_000007.14:66813842:AA: 26/1808)	-	Apr 26, 2020 (154)
57	Korean Genome Project Submission ignored due to conflicting rows: Row 18102377 (NC_000007.14:66813843:A: 634/1808) Row 18102378 (NC_000007.14:66813844::A 132/1808) Row 18102379 (NC_000007.14:66813842:AA: 26/1808)	-	Apr 26, 2020 (154)
58	8.3KJPN Submission ignored due to conflicting rows: Row 41554744 (NC_000007.13:66278829:A: 7712/16678) Row 41554745 (NC_000007.13:66278829::A 1056/16678) Row 41554746 (NC_000007.13:66278829:AAAAAAA: 3/16678)	-	Apr 26, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 41554744 (NC_000007.13:66278829:A: 7712/16678) Row 41554745 (NC_000007.13:66278829::A 1056/16678) Row 41554746 (NC_000007.13:66278829:AAAAAAA: 3/16678)	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 41554744 (NC_000007.13:66278829:A: 7712/16678) Row 41554745 (NC_000007.13:66278829::A 1056/16678) Row 41554746 (NC_000007.13:66278829:AAAAAAA: 3/16678)	-	Apr 26, 2021 (155)
61	14KJPN Submission ignored due to conflicting rows: Row 57805263 (NC_000007.14:66813842:A: 13015/27944) Row 57805264 (NC_000007.14:66813842::A 1740/27944) Row 57805265 (NC_000007.14:66813842:AA: 10/27944)...	-	Oct 14, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 57805263 (NC_000007.14:66813842:A: 13015/27944) Row 57805264 (NC_000007.14:66813842::A 1740/27944) Row 57805265 (NC_000007.14:66813842:AA: 10/27944)...	-	Oct 14, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 57805263 (NC_000007.14:66813842:A: 13015/27944) Row 57805264 (NC_000007.14:66813842::A 1740/27944) Row 57805265 (NC_000007.14:66813842:AA: 10/27944)...	-	Oct 14, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 57805263 (NC_000007.14:66813842:A: 13015/27944) Row 57805264 (NC_000007.14:66813842::A 1740/27944) Row 57805265 (NC_000007.14:66813842:AA: 10/27944)...	-	Oct 14, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 57805263 (NC_000007.14:66813842:A: 13015/27944) Row 57805264 (NC_000007.14:66813842::A 1740/27944) Row 57805265 (NC_000007.14:66813842:AA: 10/27944)...	-	Oct 14, 2022 (156)
66	TopMed Submission ignored due to conflicting rows: Row 586084064 (NC_000007.14:66813842:AAAAAAA: 96/264690) Row 586084065 (NC_000007.14:66813842:AAAAAAAAA: 9/264690)	-	Apr 26, 2021 (155)
67	TopMed Submission ignored due to conflicting rows: Row 586084064 (NC_000007.14:66813842:AAAAAAA: 96/264690) Row 586084065 (NC_000007.14:66813842:AAAAAAAAA: 9/264690)	-	Apr 26, 2021 (155)
68	ALFA	NC_000007.14 - 66813843	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4165063170, ss4748706506, ss5723968164	NC_000007.14:66813842:AAAAAAAAA:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAA	(self)
12850581530	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAA	(self)
ss4165063169	NC_000007.14:66813842:AAAAAAAA:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAA	(self)
12850581530	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAA	(self)
ss5183585439	NC_000007.13:66278829:AAAAAAA:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4165063168, ss4748706505, ss5723968163	NC_000007.14:66813842:AAAAAAA:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
12850581530	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
12850581530	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss3719859160, ss4165063167	NC_000007.14:66813842:AAAA:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
12850581530	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4165063166, ss5273223855	NC_000007.14:66813842:AAA:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
12850581530	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3719859159	NC_000007.14:66813843:AAA:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3961724378, ss4165063165, ss5273223854, ss5470297433, ss5723968161	NC_000007.14:66813842:AA:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
12850581530	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3719859158	NC_000007.14:66813844:AA:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
1156001, ss1577007813, ss3785844606, ss3830613150, ss3838799864, ss5183585437	NC_000007.13:66278829:A:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3844254048, ss4165063164, ss5273223852, ss5470297430, ss5723968159, ss5855929820	NC_000007.14:66813842:A:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
12850581530	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3961724376	NC_000007.14:66813843:A:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3719859157	NC_000007.14:66813845:A:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5183585438	NC_000007.13:66278829::A	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss947197126	NC_000007.13:66278830::A	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4165063161, ss5273223853, ss5470297432, ss5723968160	NC_000007.14:66813842::A	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
12850581530	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3961724377	NC_000007.14:66813844::A	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3719859156	NC_000007.14:66813846::A	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4165063162, ss5273223856	NC_000007.14:66813842::AA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
12850581530	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4165063163	NC_000007.14:66813842::AAA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
12850581530	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2463687166	NC_000007.13:66278829:AAAAAAAAA:	NC_000007.14:66813842:AAAAAAAAAAAA… NC_000007.14:66813842:AAAAAAAAAAAAAAAA:AAAAAAA

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

No publications for rs575325735

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

rs575325735