Name: rs11345719
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.

rs11345719

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:115218492-115218509 (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)₄ / delAAA / delAA / delA / …
del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₇
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₈=0.4273 (2140/5008, 1000G)
delAA=0.1157 (446/3854, ALSPAC)
delAAA=0.0000 (0/2048, ALFA) (+ 6 more)
delAA=0.0000 (0/2048, ALFA)
delA=0.0000 (0/2048, ALFA)
dupA=0.0000 (0/2048, ALFA)
dupAA=0.0000 (0/2048, ALFA)
dupAAA=0.0000 (0/2048, ALFA)
delA=0.45 (17/38, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PGGT1B : 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	2048	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	1498	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	194	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	4	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
African American	Sub	190	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	40	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	30	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	10	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	34	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	196	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	12	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	74	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	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
1000Genomes	Global	Study-wide	5008	(A)₁₈=0.4273	delA=0.5727
1000Genomes	African	Sub	1322	(A)₁₈=0.3071	delA=0.6929
1000Genomes	East Asian	Sub	1008	(A)₁₈=0.4921	delA=0.5079
1000Genomes	Europe	Sub	1006	(A)₁₈=0.4105	delA=0.5895
1000Genomes	South Asian	Sub	978	(A)₁₈=0.508	delA=0.492
1000Genomes	American	Sub	694	(A)₁₈=0.473	delA=0.527
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₈=0.8843	delAA=0.1157
Allele Frequency Aggregator	Total	Global	2048	(A)₁₈=1.0000	delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	1498	(A)₁₈=1.0000	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	196	(A)₁₈=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	African	Sub	194	(A)₁₈=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	74	(A)₁₈=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	40	(A)₁₈=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	34	(A)₁₈=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	12	(A)₁₈=1.00	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	38	(A)₁₈=0.55	delA=0.45

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 5	NC_000005.10:g.115218506_115218509del
GRCh38.p14 chr 5	NC_000005.10:g.115218507_115218509del
GRCh38.p14 chr 5	NC_000005.10:g.115218508_115218509del
GRCh38.p14 chr 5	NC_000005.10:g.115218509del
GRCh38.p14 chr 5	NC_000005.10:g.115218509dup
GRCh38.p14 chr 5	NC_000005.10:g.115218508_115218509dup
GRCh38.p14 chr 5	NC_000005.10:g.115218507_115218509dup
GRCh38.p14 chr 5	NC_000005.10:g.115218503_115218509dup
GRCh37.p13 chr 5	NC_000005.9:g.114554203_114554206del
GRCh37.p13 chr 5	NC_000005.9:g.114554204_114554206del
GRCh37.p13 chr 5	NC_000005.9:g.114554205_114554206del
GRCh37.p13 chr 5	NC_000005.9:g.114554206del
GRCh37.p13 chr 5	NC_000005.9:g.114554206dup
GRCh37.p13 chr 5	NC_000005.9:g.114554205_114554206dup
GRCh37.p13 chr 5	NC_000005.9:g.114554204_114554206dup
GRCh37.p13 chr 5	NC_000005.9:g.114554200_114554206dup

Gene: PGGT1B, protein geranylgeranyltransferase type I subunit beta (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PGGT1B transcript	NM_005023.4:c.844-1522_84… NM_005023.4:c.844-1522_844-1519del	N/A	Intron Variant
PGGT1B transcript variant X2	XM_005272020.4:c.844-1522… XM_005272020.4:c.844-1522_844-1519del	N/A	Intron Variant
PGGT1B transcript variant X1	XM_011543490.3:c.844-1522… XM_011543490.3:c.844-1522_844-1519del	N/A	Intron Variant
PGGT1B transcript variant X3	XM_047417314.1:c.	N/A	Genic Downstream 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)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₇
GRCh38.p14 chr 5	NC_000005.10:g.115218492_115218509=	NC_000005.10:g.115218506_115218509del	NC_000005.10:g.115218507_115218509del	NC_000005.10:g.115218508_115218509del	NC_000005.10:g.115218509del	NC_000005.10:g.115218509dup	NC_000005.10:g.115218508_115218509dup	NC_000005.10:g.115218507_115218509dup	NC_000005.10:g.115218503_115218509dup
GRCh37.p13 chr 5	NC_000005.9:g.114554189_114554206=	NC_000005.9:g.114554203_114554206del	NC_000005.9:g.114554204_114554206del	NC_000005.9:g.114554205_114554206del	NC_000005.9:g.114554206del	NC_000005.9:g.114554206dup	NC_000005.9:g.114554205_114554206dup	NC_000005.9:g.114554204_114554206dup	NC_000005.9:g.114554200_114554206dup
PGGT1B transcript	NM_005023.3:c.844-1519=	NM_005023.3:c.844-1522_844-1519del	NM_005023.3:c.844-1521_844-1519del	NM_005023.3:c.844-1520_844-1519del	NM_005023.3:c.844-1519del	NM_005023.3:c.844-1519dup	NM_005023.3:c.844-1520_844-1519dup	NM_005023.3:c.844-1521_844-1519dup	NM_005023.3:c.844-1525_844-1519dup
PGGT1B transcript	NM_005023.4:c.844-1519=	NM_005023.4:c.844-1522_844-1519del	NM_005023.4:c.844-1521_844-1519del	NM_005023.4:c.844-1520_844-1519del	NM_005023.4:c.844-1519del	NM_005023.4:c.844-1519dup	NM_005023.4:c.844-1520_844-1519dup	NM_005023.4:c.844-1521_844-1519dup	NM_005023.4:c.844-1525_844-1519dup
PGGT1B transcript variant X1	XM_005272020.1:c.985-1519=	XM_005272020.1:c.985-1522_985-1519del	XM_005272020.1:c.985-1521_985-1519del	XM_005272020.1:c.985-1520_985-1519del	XM_005272020.1:c.985-1519del	XM_005272020.1:c.985-1519dup	XM_005272020.1:c.985-1520_985-1519dup	XM_005272020.1:c.985-1521_985-1519dup	XM_005272020.1:c.985-1525_985-1519dup
PGGT1B transcript variant X2	XM_005272020.4:c.844-1519=	XM_005272020.4:c.844-1522_844-1519del	XM_005272020.4:c.844-1521_844-1519del	XM_005272020.4:c.844-1520_844-1519del	XM_005272020.4:c.844-1519del	XM_005272020.4:c.844-1519dup	XM_005272020.4:c.844-1520_844-1519dup	XM_005272020.4:c.844-1521_844-1519dup	XM_005272020.4:c.844-1525_844-1519dup
PGGT1B transcript variant X2	XM_005272021.1:c.754-1519=	XM_005272021.1:c.754-1522_754-1519del	XM_005272021.1:c.754-1521_754-1519del	XM_005272021.1:c.754-1520_754-1519del	XM_005272021.1:c.754-1519del	XM_005272021.1:c.754-1519dup	XM_005272021.1:c.754-1520_754-1519dup	XM_005272021.1:c.754-1521_754-1519dup	XM_005272021.1:c.754-1525_754-1519dup
PGGT1B transcript variant X4	XM_005272023.1:c.475-1519=	XM_005272023.1:c.475-1522_475-1519del	XM_005272023.1:c.475-1521_475-1519del	XM_005272023.1:c.475-1520_475-1519del	XM_005272023.1:c.475-1519del	XM_005272023.1:c.475-1519dup	XM_005272023.1:c.475-1520_475-1519dup	XM_005272023.1:c.475-1521_475-1519dup	XM_005272023.1:c.475-1525_475-1519dup
PGGT1B transcript variant X1	XM_011543490.3:c.844-1519=	XM_011543490.3:c.844-1522_844-1519del	XM_011543490.3:c.844-1521_844-1519del	XM_011543490.3:c.844-1520_844-1519del	XM_011543490.3:c.844-1519del	XM_011543490.3:c.844-1519dup	XM_011543490.3:c.844-1520_844-1519dup	XM_011543490.3:c.844-1521_844-1519dup	XM_011543490.3:c.844-1525_844-1519dup

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#.

48 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80020700	Sep 08, 2015 (146)
2	HGSV	ss83228502	Sep 08, 2015 (146)
3	GMI	ss288652764	May 04, 2012 (137)
4	BILGI_BIOE	ss666324623	Apr 25, 2013 (138)
5	1000GENOMES	ss1374340697	Aug 21, 2014 (142)
6	EVA_GENOME_DK	ss1576589087	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1704827422	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1704827457	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710226454	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1710226464	Apr 01, 2015 (144)
11	SWEGEN	ss2997598658	Nov 08, 2017 (151)
12	EVA_DECODE	ss3715468199	Jul 13, 2019 (153)
13	EVA_DECODE	ss3715468200	Jul 13, 2019 (153)
14	EVA_DECODE	ss3715468201	Jul 13, 2019 (153)
15	EVA_DECODE	ss3715468202	Jul 13, 2019 (153)
16	ACPOP	ss3732711719	Jul 13, 2019 (153)
17	ACPOP	ss3732711720	Jul 13, 2019 (153)
18	PACBIO	ss3785217982	Jul 13, 2019 (153)
19	PACBIO	ss3790606725	Jul 13, 2019 (153)
20	PACBIO	ss3795483500	Jul 13, 2019 (153)
21	KHV_HUMAN_GENOMES	ss3807085928	Jul 13, 2019 (153)
22	EVA	ss3829444510	Apr 26, 2020 (154)
23	KOGIC	ss3957431666	Apr 26, 2020 (154)
24	KOGIC	ss3957431667	Apr 26, 2020 (154)
25	KOGIC	ss3957431668	Apr 26, 2020 (154)
26	GNOMAD	ss4127217586	Apr 26, 2021 (155)
27	GNOMAD	ss4127217587	Apr 26, 2021 (155)
28	GNOMAD	ss4127217588	Apr 26, 2021 (155)
29	GNOMAD	ss4127217589	Apr 26, 2021 (155)
30	GNOMAD	ss4127217590	Apr 26, 2021 (155)
31	GNOMAD	ss4127217591	Apr 26, 2021 (155)
32	GNOMAD	ss4127217592	Apr 26, 2021 (155)
33	GNOMAD	ss4127217593	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5173601557	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5173601558	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5173601559	Apr 26, 2021 (155)
37	1000G_HIGH_COVERAGE	ss5265413793	Oct 13, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5265413794	Oct 13, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5265413795	Oct 13, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5265413797	Oct 13, 2022 (156)
41	HUGCELL_USP	ss5463427706	Oct 13, 2022 (156)
42	HUGCELL_USP	ss5463427707	Oct 13, 2022 (156)
43	HUGCELL_USP	ss5463427708	Oct 13, 2022 (156)
44	TOMMO_GENOMICS	ss5710524617	Oct 13, 2022 (156)
45	TOMMO_GENOMICS	ss5710524618	Oct 13, 2022 (156)
46	TOMMO_GENOMICS	ss5710524619	Oct 13, 2022 (156)
47	EVA	ss5835478506	Oct 13, 2022 (156)
48	EVA	ss5835478507	Oct 13, 2022 (156)
49	1000Genomes	NC_000005.9 - 114554189	Oct 12, 2018 (152)
50	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 114554189	Oct 12, 2018 (152)
51	The Danish reference pan genome	NC_000005.9 - 114554189	Apr 26, 2020 (154)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 200821981 (NC_000005.10:115218491::A 8548/104066) Row 200821982 (NC_000005.10:115218491::AA 227/104118) Row 200821983 (NC_000005.10:115218491::AAA 5/104136)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 200821981 (NC_000005.10:115218491::A 8548/104066) Row 200821982 (NC_000005.10:115218491::AA 227/104118) Row 200821983 (NC_000005.10:115218491::AAA 5/104136)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 200821981 (NC_000005.10:115218491::A 8548/104066) Row 200821982 (NC_000005.10:115218491::AA 227/104118) Row 200821983 (NC_000005.10:115218491::AAA 5/104136)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 200821981 (NC_000005.10:115218491::A 8548/104066) Row 200821982 (NC_000005.10:115218491::AA 227/104118) Row 200821983 (NC_000005.10:115218491::AAA 5/104136)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 200821981 (NC_000005.10:115218491::A 8548/104066) Row 200821982 (NC_000005.10:115218491::AA 227/104118) Row 200821983 (NC_000005.10:115218491::AAA 5/104136)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 200821981 (NC_000005.10:115218491::A 8548/104066) Row 200821982 (NC_000005.10:115218491::AA 227/104118) Row 200821983 (NC_000005.10:115218491::AAA 5/104136)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 200821981 (NC_000005.10:115218491::A 8548/104066) Row 200821982 (NC_000005.10:115218491::AA 227/104118) Row 200821983 (NC_000005.10:115218491::AAA 5/104136)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 200821981 (NC_000005.10:115218491::A 8548/104066) Row 200821982 (NC_000005.10:115218491::AA 227/104118) Row 200821983 (NC_000005.10:115218491::AAA 5/104136)...	-	Apr 26, 2021 (155)
60	Korean Genome Project Submission ignored due to conflicting rows: Row 13809667 (NC_000005.10:115218492:A: 636/1816) Row 13809668 (NC_000005.10:115218493::A 189/1816) Row 13809669 (NC_000005.10:115218491:AA: 32/1816)	-	Apr 26, 2020 (154)
61	Korean Genome Project Submission ignored due to conflicting rows: Row 13809667 (NC_000005.10:115218492:A: 636/1816) Row 13809668 (NC_000005.10:115218493::A 189/1816) Row 13809669 (NC_000005.10:115218491:AA: 32/1816)	-	Apr 26, 2020 (154)
62	Korean Genome Project Submission ignored due to conflicting rows: Row 13809667 (NC_000005.10:115218492:A: 636/1816) Row 13809668 (NC_000005.10:115218493::A 189/1816) Row 13809669 (NC_000005.10:115218491:AA: 32/1816)	-	Apr 26, 2020 (154)
63	Northern Sweden Submission ignored due to conflicting rows: Row 5996584 (NC_000005.9:114554188:A: 188/512) Row 5996585 (NC_000005.9:114554188:AA: 12/512)	-	Jul 13, 2019 (153)
64	Northern Sweden Submission ignored due to conflicting rows: Row 5996584 (NC_000005.9:114554188:A: 188/512) Row 5996585 (NC_000005.9:114554188:AA: 12/512)	-	Jul 13, 2019 (153)
65	8.3KJPN Submission ignored due to conflicting rows: Row 31570864 (NC_000005.9:114554188:A: 4847/16754) Row 31570865 (NC_000005.9:114554188::A 514/16754) Row 31570866 (NC_000005.9:114554188:AA: 4/16754)	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 31570864 (NC_000005.9:114554188:A: 4847/16754) Row 31570865 (NC_000005.9:114554188::A 514/16754) Row 31570866 (NC_000005.9:114554188:AA: 4/16754)	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 31570864 (NC_000005.9:114554188:A: 4847/16754) Row 31570865 (NC_000005.9:114554188::A 514/16754) Row 31570866 (NC_000005.9:114554188:AA: 4/16754)	-	Apr 26, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 44361721 (NC_000005.10:115218491:A: 8233/28246) Row 44361722 (NC_000005.10:115218491::A 845/28246) Row 44361723 (NC_000005.10:115218491:AA: 7/28246)	-	Oct 13, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 44361721 (NC_000005.10:115218491:A: 8233/28246) Row 44361722 (NC_000005.10:115218491::A 845/28246) Row 44361723 (NC_000005.10:115218491:AA: 7/28246)	-	Oct 13, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 44361721 (NC_000005.10:115218491:A: 8233/28246) Row 44361722 (NC_000005.10:115218491::A 845/28246) Row 44361723 (NC_000005.10:115218491:AA: 7/28246)	-	Oct 13, 2022 (156)
71	UK 10K study - Twins Submission ignored due to conflicting rows: Row 15787209 (NC_000005.9:114554189:A: 2044/3708) Row 15787210 (NC_000005.9:114554188:AA: 412/3708)	-	Apr 26, 2020 (154)
72	UK 10K study - Twins	-	Oct 12, 2018 (152)
73	ALFA	NC_000005.10 - 115218492	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)
rs35272741	May 23, 2006 (127)
rs57898760	May 11, 2012 (137)
rs201258731	May 11, 2012 (137)
rs375525366	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4127217593	NC_000005.10:115218491:AAAA:	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4127217592	NC_000005.10:115218491:AAA:	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
8631082300	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
15787210, ss1704827422, ss1704827457, ss2997598658, ss3732711720, ss5173601559, ss5835478507	NC_000005.9:114554188:AA:	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3715468202, ss3957431668, ss4127217591, ss5265413794, ss5463427708, ss5710524619	NC_000005.10:115218491:AA:	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
8631082300	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss288652764	NC_000005.8:114582087:A:	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss80020700, ss83228502	NC_000005.8:114582104:A:	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
28389256, 1020860, ss666324623, ss1374340697, ss1576589087, ss3732711719, ss3785217982, ss3790606725, ss3795483500, ss3829444510, ss5173601557, ss5835478506	NC_000005.9:114554188:A:	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1710226454, ss1710226464	NC_000005.9:114554189:A:	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3807085928, ss4127217590, ss5265413793, ss5463427706, ss5710524617	NC_000005.10:115218491:A:	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
8631082300	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3715468201, ss3957431666	NC_000005.10:115218492:A:	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5173601558	NC_000005.9:114554188::A	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4127217586, ss5265413795, ss5463427707, ss5710524618	NC_000005.10:115218491::A	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
8631082300	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3715468200, ss3957431667	NC_000005.10:115218493::A	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4127217587, ss5265413797	NC_000005.10:115218491::AA	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
8631082300	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3715468199	NC_000005.10:115218493::AA	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4127217588	NC_000005.10:115218491::AAA	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
8631082300	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4127217589	NC_000005.10:115218491::AAAAAAA	NC_000005.10:115218491:AAAAAAAAAAA… NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs11345719

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

rs11345719