Name: rs748522540
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.

rs748522540

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:78872736-78872751 (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(G)₁₁ / del(G)₁₀ / del(G)₆ / de…
del(G)₁₁ / del(G)₁₀ / del(G)₆ / del(G)₅ / del(G)₄ / delGGG / delGG / delG / dupG / dupGG / dupGGG / dup(G)₄ / dup(G)₅
Variation Type: Indel Insertion and Deletion
Frequency: del(G)₁₀=0.000008 (2/264690, TOPMED)
del(G)₁₁=0.0000 (0/5348, ALFA)
del(G)₁₀=0.0000 (0/5348, ALFA) (+ 11 more)
del(G)₆=0.0000 (0/5348, ALFA)
del(G)₅=0.0000 (0/5348, ALFA)
del(G)₄=0.0000 (0/5348, ALFA)
delGGG=0.0000 (0/5348, ALFA)
delGG=0.0000 (0/5348, ALFA)
delG=0.0000 (0/5348, ALFA)
dupG=0.0000 (0/5348, ALFA)
dupGG=0.0000 (0/5348, ALFA)
dupGGG=0.0000 (0/5348, ALFA)
dup(G)₄=0.0000 (0/5348, ALFA)
dup(G)₅=0.0000 (0/5348, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MORF4L1 : 2KB Upstream 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	5348	GGGGGGGGGGGGGGGG=1.0000	GGGGG=0.0000, GGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGGGGG=0.0000	1.0	N/A
European	Sub	3482	GGGGGGGGGGGGGGGG=1.0000	GGGGG=0.0000, GGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGGGGG=0.0000	1.0	N/A
African	Sub	1188	GGGGGGGGGGGGGGGG=1.0000	GGGGG=0.0000, GGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGGGGG=0.0000	1.0	N/A
African Others	Sub	44	GGGGGGGGGGGGGGGG=1.00	GGGGG=0.00, GGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGGGG=0.00	1.0	N/A
African American	Sub	1144	GGGGGGGGGGGGGGGG=1.0000	GGGGG=0.0000, GGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGGGGGG=0.0000	1.0	N/A
Asian	Sub	44	GGGGGGGGGGGGGGGG=1.00	GGGGG=0.00, GGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGGGG=0.00	1.0	N/A
East Asian	Sub	30	GGGGGGGGGGGGGGGG=1.00	GGGGG=0.00, GGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGGGG=0.00	1.0	N/A
Other Asian	Sub	14	GGGGGGGGGGGGGGGG=1.00	GGGGG=0.00, GGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGGGG=0.00	1.0	N/A
Latin American 1	Sub	64	GGGGGGGGGGGGGGGG=1.00	GGGGG=0.00, GGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGGGG=0.00	1.0	N/A
Latin American 2	Sub	314	GGGGGGGGGGGGGGGG=1.000	GGGGG=0.000, GGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGGGGGG=0.000	1.0	N/A
South Asian	Sub	38	GGGGGGGGGGGGGGGG=1.00	GGGGG=0.00, GGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGGGGGG=0.00	1.0	N/A
Other	Sub	218	GGGGGGGGGGGGGGGG=1.000	GGGGG=0.000, GGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGGGGGG=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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(G)₁₆=0.999992	del(G)₁₀=0.000008
Allele Frequency Aggregator	Total	Global	5348	(G)₁₆=1.0000	del(G)₁₁=0.0000, del(G)₁₀=0.0000, del(G)₆=0.0000, del(G)₅=0.0000, del(G)₄=0.0000, delGGG=0.0000, delGG=0.0000, delG=0.0000, dupG=0.0000, dupGG=0.0000, dupGGG=0.0000, dup(G)₄=0.0000, dup(G)₅=0.0000
Allele Frequency Aggregator	European	Sub	3482	(G)₁₆=1.0000	del(G)₁₁=0.0000, del(G)₁₀=0.0000, del(G)₆=0.0000, del(G)₅=0.0000, del(G)₄=0.0000, delGGG=0.0000, delGG=0.0000, delG=0.0000, dupG=0.0000, dupGG=0.0000, dupGGG=0.0000, dup(G)₄=0.0000, dup(G)₅=0.0000
Allele Frequency Aggregator	African	Sub	1188	(G)₁₆=1.0000	del(G)₁₁=0.0000, del(G)₁₀=0.0000, del(G)₆=0.0000, del(G)₅=0.0000, del(G)₄=0.0000, delGGG=0.0000, delGG=0.0000, delG=0.0000, dupG=0.0000, dupGG=0.0000, dupGGG=0.0000, dup(G)₄=0.0000, dup(G)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	314	(G)₁₆=1.000	del(G)₁₁=0.000, del(G)₁₀=0.000, del(G)₆=0.000, del(G)₅=0.000, del(G)₄=0.000, delGGG=0.000, delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000, dup(G)₅=0.000
Allele Frequency Aggregator	Other	Sub	218	(G)₁₆=1.000	del(G)₁₁=0.000, del(G)₁₀=0.000, del(G)₆=0.000, del(G)₅=0.000, del(G)₄=0.000, delGGG=0.000, delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000, dup(G)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	64	(G)₁₆=1.00	del(G)₁₁=0.00, del(G)₁₀=0.00, del(G)₆=0.00, del(G)₅=0.00, del(G)₄=0.00, delGGG=0.00, delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00, dup(G)₅=0.00
Allele Frequency Aggregator	Asian	Sub	44	(G)₁₆=1.00	del(G)₁₁=0.00, del(G)₁₀=0.00, del(G)₆=0.00, del(G)₅=0.00, del(G)₄=0.00, delGGG=0.00, delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00, dup(G)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	38	(G)₁₆=1.00	del(G)₁₁=0.00, del(G)₁₀=0.00, del(G)₆=0.00, del(G)₅=0.00, del(G)₄=0.00, delGGG=0.00, delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00, dup(G)₅=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 15	NC_000015.10:g.78872741_78872751del
GRCh38.p14 chr 15	NC_000015.10:g.78872742_78872751del
GRCh38.p14 chr 15	NC_000015.10:g.78872746_78872751del
GRCh38.p14 chr 15	NC_000015.10:g.78872747_78872751del
GRCh38.p14 chr 15	NC_000015.10:g.78872748_78872751del
GRCh38.p14 chr 15	NC_000015.10:g.78872749_78872751del
GRCh38.p14 chr 15	NC_000015.10:g.78872750_78872751del
GRCh38.p14 chr 15	NC_000015.10:g.78872751del
GRCh38.p14 chr 15	NC_000015.10:g.78872751dup
GRCh38.p14 chr 15	NC_000015.10:g.78872750_78872751dup
GRCh38.p14 chr 15	NC_000015.10:g.78872749_78872751dup
GRCh38.p14 chr 15	NC_000015.10:g.78872748_78872751dup
GRCh38.p14 chr 15	NC_000015.10:g.78872747_78872751dup
GRCh37.p13 chr 15	NC_000015.9:g.79165083_79165093del
GRCh37.p13 chr 15	NC_000015.9:g.79165084_79165093del
GRCh37.p13 chr 15	NC_000015.9:g.79165088_79165093del
GRCh37.p13 chr 15	NC_000015.9:g.79165089_79165093del
GRCh37.p13 chr 15	NC_000015.9:g.79165090_79165093del
GRCh37.p13 chr 15	NC_000015.9:g.79165091_79165093del
GRCh37.p13 chr 15	NC_000015.9:g.79165092_79165093del
GRCh37.p13 chr 15	NC_000015.9:g.79165093del
GRCh37.p13 chr 15	NC_000015.9:g.79165093dup
GRCh37.p13 chr 15	NC_000015.9:g.79165092_79165093dup
GRCh37.p13 chr 15	NC_000015.9:g.79165091_79165093dup
GRCh37.p13 chr 15	NC_000015.9:g.79165090_79165093dup
GRCh37.p13 chr 15	NC_000015.9:g.79165089_79165093dup

Gene: MORF4L1, mortality factor 4 like 1 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
MORF4L1 transcript variant 3	NM_001265603.2:c.	N/A	Upstream Transcript Variant
MORF4L1 transcript variant 4	NM_001265604.2:c.	N/A	Upstream Transcript Variant
MORF4L1 transcript variant 5	NM_001265605.2:c.	N/A	Upstream Transcript Variant
MORF4L1 transcript variant 1	NM_006791.4:c.	N/A	Upstream Transcript Variant
MORF4L1 transcript variant 2	NM_206839.3:c.	N/A	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	(G)₁₆=	del(G)₁₁	del(G)₁₀	del(G)₆	del(G)₅	del(G)₄	delGGG	delGG	delG	dupG	dupGG	dupGGG	dup(G)₄	dup(G)₅
GRCh38.p14 chr 15	NC_000015.10:g.78872736_78872751=	NC_000015.10:g.78872741_78872751del	NC_000015.10:g.78872742_78872751del	NC_000015.10:g.78872746_78872751del	NC_000015.10:g.78872747_78872751del	NC_000015.10:g.78872748_78872751del	NC_000015.10:g.78872749_78872751del	NC_000015.10:g.78872750_78872751del	NC_000015.10:g.78872751del	NC_000015.10:g.78872751dup	NC_000015.10:g.78872750_78872751dup	NC_000015.10:g.78872749_78872751dup	NC_000015.10:g.78872748_78872751dup	NC_000015.10:g.78872747_78872751dup
GRCh37.p13 chr 15	NC_000015.9:g.79165078_79165093=	NC_000015.9:g.79165083_79165093del	NC_000015.9:g.79165084_79165093del	NC_000015.9:g.79165088_79165093del	NC_000015.9:g.79165089_79165093del	NC_000015.9:g.79165090_79165093del	NC_000015.9:g.79165091_79165093del	NC_000015.9:g.79165092_79165093del	NC_000015.9:g.79165093del	NC_000015.9:g.79165093dup	NC_000015.9:g.79165092_79165093dup	NC_000015.9:g.79165091_79165093dup	NC_000015.9:g.79165090_79165093dup	NC_000015.9:g.79165089_79165093dup
MORF4L1 transcript variant X1	XM_005254136.1:c.116-5477=	XM_005254136.1:c.116-5472_116-5462del	XM_005254136.1:c.116-5471_116-5462del	XM_005254136.1:c.116-5467_116-5462del	XM_005254136.1:c.116-5466_116-5462del	XM_005254136.1:c.116-5465_116-5462del	XM_005254136.1:c.116-5464_116-5462del	XM_005254136.1:c.116-5463_116-5462del	XM_005254136.1:c.116-5462del	XM_005254136.1:c.116-5462dup	XM_005254136.1:c.116-5463_116-5462dup	XM_005254136.1:c.116-5464_116-5462dup	XM_005254136.1:c.116-5465_116-5462dup	XM_005254136.1:c.116-5466_116-5462dup

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#.

52 SubSNP, 32 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_UK10K_ALSPAC	ss1708369602	Apr 01, 2015 (144)
2	EVA_UK10K_ALSPAC	ss1708369604	Apr 01, 2015 (144)
3	EVA_UK10K_TWINSUK	ss1708369999	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1708370002	Apr 01, 2015 (144)
5	SWEGEN	ss3013598158	Nov 08, 2017 (151)
6	MCHAISSO	ss3063826390	Nov 08, 2017 (151)
7	EVA_DECODE	ss3698274343	Jul 13, 2019 (153)
8	EVA_DECODE	ss3698274344	Jul 13, 2019 (153)
9	EVA_DECODE	ss3698274345	Jul 13, 2019 (153)
10	EVA_DECODE	ss3698274346	Jul 13, 2019 (153)
11	EVA_DECODE	ss3698274347	Jul 13, 2019 (153)
12	EVA_DECODE	ss3698274348	Jul 13, 2019 (153)
13	EVA_DECODE	ss3698274354	Jul 13, 2019 (153)
14	EVA_DECODE	ss3698274355	Jul 13, 2019 (153)
15	EVA	ss3834330612	Apr 27, 2020 (154)
16	KOGIC	ss3976547005	Apr 27, 2020 (154)
17	KOGIC	ss3976547006	Apr 27, 2020 (154)
18	KOGIC	ss3976547007	Apr 27, 2020 (154)
19	KOGIC	ss3976547008	Apr 27, 2020 (154)
20	KOGIC	ss3976547009	Apr 27, 2020 (154)
21	GNOMAD	ss4292179962	Apr 27, 2021 (155)
22	GNOMAD	ss4292179963	Apr 27, 2021 (155)
23	GNOMAD	ss4292179964	Apr 27, 2021 (155)
24	GNOMAD	ss4292179966	Apr 27, 2021 (155)
25	GNOMAD	ss4292179967	Apr 27, 2021 (155)
26	GNOMAD	ss4292179968	Apr 27, 2021 (155)
27	GNOMAD	ss4292179969	Apr 27, 2021 (155)
28	GNOMAD	ss4292179970	Apr 27, 2021 (155)
29	GNOMAD	ss4292179971	Apr 27, 2021 (155)
30	TOPMED	ss4998223399	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5217106070	Apr 27, 2021 (155)
32	TOMMO_GENOMICS	ss5217106071	Apr 27, 2021 (155)
33	TOMMO_GENOMICS	ss5217106072	Apr 27, 2021 (155)
34	TOMMO_GENOMICS	ss5217106073	Apr 27, 2021 (155)
35	TOMMO_GENOMICS	ss5217106074	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5217106075	Apr 27, 2021 (155)
37	HUGCELL_USP	ss5492777899	Oct 16, 2022 (156)
38	HUGCELL_USP	ss5492777900	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5492777901	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5492777902	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5492777903	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5492777904	Oct 16, 2022 (156)
43	SANFORD_IMAGENETICS	ss5657892404	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5771185411	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5771185412	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5771185413	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5771185414	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5771185415	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5771185416	Oct 16, 2022 (156)
50	EVA	ss5828464929	Oct 16, 2022 (156)
51	EVA	ss5828464930	Oct 16, 2022 (156)
52	EVA	ss5980883857	Oct 16, 2022 (156)
53	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 37394023 (NC_000015.9:79165077::G 1059/3854) Row 37394024 (NC_000015.9:79165077::GG 1351/3854)	-	Oct 12, 2018 (152)
54	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 37394023 (NC_000015.9:79165077::G 1059/3854) Row 37394024 (NC_000015.9:79165077::GG 1351/3854)	-	Oct 12, 2018 (152)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 474768973 (NC_000015.10:78872735::GG 1940/43056) Row 474768974 (NC_000015.10:78872735::GGG 33/43210) Row 474768975 (NC_000015.10:78872735::GGGGG 1/43220)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 474768973 (NC_000015.10:78872735::GG 1940/43056) Row 474768974 (NC_000015.10:78872735::GGG 33/43210) Row 474768975 (NC_000015.10:78872735::GGGGG 1/43220)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 474768973 (NC_000015.10:78872735::GG 1940/43056) Row 474768974 (NC_000015.10:78872735::GGG 33/43210) Row 474768975 (NC_000015.10:78872735::GGGGG 1/43220)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 474768973 (NC_000015.10:78872735::GG 1940/43056) Row 474768974 (NC_000015.10:78872735::GGG 33/43210) Row 474768975 (NC_000015.10:78872735::GGGGG 1/43220)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 474768973 (NC_000015.10:78872735::GG 1940/43056) Row 474768974 (NC_000015.10:78872735::GGG 33/43210) Row 474768975 (NC_000015.10:78872735::GGGGG 1/43220)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 474768973 (NC_000015.10:78872735::GG 1940/43056) Row 474768974 (NC_000015.10:78872735::GGG 33/43210) Row 474768975 (NC_000015.10:78872735::GGGGG 1/43220)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 474768973 (NC_000015.10:78872735::GG 1940/43056) Row 474768974 (NC_000015.10:78872735::GGG 33/43210) Row 474768975 (NC_000015.10:78872735::GGGGG 1/43220)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 474768973 (NC_000015.10:78872735::GG 1940/43056) Row 474768974 (NC_000015.10:78872735::GGG 33/43210) Row 474768975 (NC_000015.10:78872735::GGGGG 1/43220)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 474768973 (NC_000015.10:78872735::GG 1940/43056) Row 474768974 (NC_000015.10:78872735::GGG 33/43210) Row 474768975 (NC_000015.10:78872735::GGGGG 1/43220)...	-	Apr 27, 2021 (155)
64	Korean Genome Project Submission ignored due to conflicting rows: Row 32925006 (NC_000015.10:78872735:GGGGG: 38/1532) Row 32925007 (NC_000015.10:78872736:GGGG: 137/1532) Row 32925008 (NC_000015.10:78872737:GGG: 65/1532)...	-	Apr 27, 2020 (154)
65	Korean Genome Project Submission ignored due to conflicting rows: Row 32925006 (NC_000015.10:78872735:GGGGG: 38/1532) Row 32925007 (NC_000015.10:78872736:GGGG: 137/1532) Row 32925008 (NC_000015.10:78872737:GGG: 65/1532)...	-	Apr 27, 2020 (154)
66	Korean Genome Project Submission ignored due to conflicting rows: Row 32925006 (NC_000015.10:78872735:GGGGG: 38/1532) Row 32925007 (NC_000015.10:78872736:GGGG: 137/1532) Row 32925008 (NC_000015.10:78872737:GGG: 65/1532)...	-	Apr 27, 2020 (154)
67	Korean Genome Project Submission ignored due to conflicting rows: Row 32925006 (NC_000015.10:78872735:GGGGG: 38/1532) Row 32925007 (NC_000015.10:78872736:GGGG: 137/1532) Row 32925008 (NC_000015.10:78872737:GGG: 65/1532)...	-	Apr 27, 2020 (154)
68	Korean Genome Project Submission ignored due to conflicting rows: Row 32925006 (NC_000015.10:78872735:GGGGG: 38/1532) Row 32925007 (NC_000015.10:78872736:GGGG: 137/1532) Row 32925008 (NC_000015.10:78872737:GGG: 65/1532)...	-	Apr 27, 2020 (154)
69	8.3KJPN Submission ignored due to conflicting rows: Row 75075377 (NC_000015.9:79165077:GGGG: 798/14706) Row 75075378 (NC_000015.9:79165077:G: 1173/14706) Row 75075379 (NC_000015.9:79165077:GGGGG: 129/14706)...	-	Apr 27, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 75075377 (NC_000015.9:79165077:GGGG: 798/14706) Row 75075378 (NC_000015.9:79165077:G: 1173/14706) Row 75075379 (NC_000015.9:79165077:GGGGG: 129/14706)...	-	Apr 27, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 75075377 (NC_000015.9:79165077:GGGG: 798/14706) Row 75075378 (NC_000015.9:79165077:G: 1173/14706) Row 75075379 (NC_000015.9:79165077:GGGGG: 129/14706)...	-	Apr 27, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 75075377 (NC_000015.9:79165077:GGGG: 798/14706) Row 75075378 (NC_000015.9:79165077:G: 1173/14706) Row 75075379 (NC_000015.9:79165077:GGGGG: 129/14706)...	-	Apr 27, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 75075377 (NC_000015.9:79165077:GGGG: 798/14706) Row 75075378 (NC_000015.9:79165077:G: 1173/14706) Row 75075379 (NC_000015.9:79165077:GGGGG: 129/14706)...	-	Apr 27, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 75075377 (NC_000015.9:79165077:GGGG: 798/14706) Row 75075378 (NC_000015.9:79165077:G: 1173/14706) Row 75075379 (NC_000015.9:79165077:GGGGG: 129/14706)...	-	Apr 27, 2021 (155)
75	14KJPN Submission ignored due to conflicting rows: Row 105022515 (NC_000015.10:78872735:GGGG: 1635/26692) Row 105022516 (NC_000015.10:78872735:GGGGG: 264/26692) Row 105022517 (NC_000015.10:78872735:G: 2226/26692)...	-	Oct 16, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 105022515 (NC_000015.10:78872735:GGGG: 1635/26692) Row 105022516 (NC_000015.10:78872735:GGGGG: 264/26692) Row 105022517 (NC_000015.10:78872735:G: 2226/26692)...	-	Oct 16, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 105022515 (NC_000015.10:78872735:GGGG: 1635/26692) Row 105022516 (NC_000015.10:78872735:GGGGG: 264/26692) Row 105022517 (NC_000015.10:78872735:G: 2226/26692)...	-	Oct 16, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 105022515 (NC_000015.10:78872735:GGGG: 1635/26692) Row 105022516 (NC_000015.10:78872735:GGGGG: 264/26692) Row 105022517 (NC_000015.10:78872735:G: 2226/26692)...	-	Oct 16, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 105022515 (NC_000015.10:78872735:GGGG: 1635/26692) Row 105022516 (NC_000015.10:78872735:GGGGG: 264/26692) Row 105022517 (NC_000015.10:78872735:G: 2226/26692)...	-	Oct 16, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 105022515 (NC_000015.10:78872735:GGGG: 1635/26692) Row 105022516 (NC_000015.10:78872735:GGGGG: 264/26692) Row 105022517 (NC_000015.10:78872735:G: 2226/26692)...	-	Oct 16, 2022 (156)
81	TopMed	NC_000015.10 - 78872736	Apr 27, 2021 (155)
82	UK 10K study - Twins Submission ignored due to conflicting rows: Row 37394023 (NC_000015.9:79165077::G 991/3708) Row 37394024 (NC_000015.9:79165077::GG 1302/3708)	-	Oct 12, 2018 (152)
83	UK 10K study - Twins Submission ignored due to conflicting rows: Row 37394023 (NC_000015.9:79165077::G 991/3708) Row 37394024 (NC_000015.9:79165077::GG 1302/3708)	-	Oct 12, 2018 (152)
84	ALFA	NC_000015.10 - 78872736	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
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGG	(self)
213769059, ss4998223399	NC_000015.10:78872735:GGGGGGGGGG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGG	(self)
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGG	(self)
ss4292179971	NC_000015.10:78872735:GGGGGG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGG	(self)
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGG	(self)
ss5217106072, ss5657892404	NC_000015.9:79165077:GGGGG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGG	(self)
ss3063826390, ss3976547005, ss4292179970, ss5492777903, ss5771185412	NC_000015.10:78872735:GGGGG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGG	(self)
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGG	(self)
ss3013598158, ss5217106070, ss5980883857	NC_000015.9:79165077:GGGG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss3698274348, ss4292179969, ss5492777901, ss5771185411	NC_000015.10:78872735:GGGG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGG	(self)
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss3976547006	NC_000015.10:78872736:GGGG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss5217106074	NC_000015.9:79165077:GGG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss4292179968, ss5492777902, ss5771185415	NC_000015.10:78872735:GGG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGG	(self)
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss3698274347	NC_000015.10:78872736:GGG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss3976547007	NC_000015.10:78872737:GGG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss5217106075	NC_000015.9:79165077:GG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss4292179967, ss5771185416	NC_000015.10:78872735:GG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss3976547008	NC_000015.10:78872738:GG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss3834330612, ss5217106071	NC_000015.9:79165077:G:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
ss4292179966, ss5492777899, ss5771185413	NC_000015.10:78872735:G:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
ss3698274346	NC_000015.10:78872738:G:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
ss3976547009	NC_000015.10:78872739:G:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
ss1708369602, ss1708369999, ss5217106073	NC_000015.9:79165077::G	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG	(self)
ss5492777904, ss5771185414	NC_000015.10:78872735::G	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG	(self)
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG	(self)
ss3698274345	NC_000015.10:78872739::G	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG	(self)
ss3698274355	NC_000015.10:78872746::G	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG	(self)
ss1708369604, ss1708370002, ss5828464929	NC_000015.9:79165077::GG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG	(self)
ss4292179962, ss5492777900	NC_000015.10:78872735::GG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG	(self)
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG	(self)
ss3698274344	NC_000015.10:78872739::GG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG	(self)
ss3698274354	NC_000015.10:78872746::GG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG	(self)
ss5828464930	NC_000015.9:79165077::GGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG
ss4292179963	NC_000015.10:78872735::GGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG	(self)
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG	(self)
ss3698274343	NC_000015.10:78872739::GGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG	(self)
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG	(self)
ss4292179964	NC_000015.10:78872735::GGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG	(self)
8558676287	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3232763993	NC_000015.10:78872735::GGGG	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG
ss3232764003	NC_000015.10:78872735:GGGGGGGGGGG:	NC_000015.10:78872735:GGGGGGGGGGGG… NC_000015.10:78872735:GGGGGGGGGGGGGGGG:GGGGG

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

No publications for rs748522540

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
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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

rs748522540