Name: rs200096207
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.

rs200096207

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:20593518-20593534 (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)₇ / del(A)₄ / delAAA / delAA…
del(A)₇ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.191484 (50684/264690, TOPMED)
delAA=0.10460 (1192/11396, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RNASE11-AS1 : 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	11396	AAAAAAAAAAAAAAAAA=0.83161	AAAAAAAAAA=0.00009, AAAAAAAAAAAAAA=0.00035, AAAAAAAAAAAAAAA=0.10460, AAAAAAAAAAAAAAAA=0.05669, AAAAAAAAAAAAAAAAAA=0.00667, AAAAAAAAAAAAAAAAAAA=0.00000	0.810945	0.022886	0.166169	32
European	Sub	9264	AAAAAAAAAAAAAAAAA=0.7948	AAAAAAAAAA=0.0001, AAAAAAAAAAAAAA=0.0004, AAAAAAAAAAAAAAA=0.1268, AAAAAAAAAAAAAAAA=0.0696, AAAAAAAAAAAAAAAAAA=0.0082, AAAAAAAAAAAAAAAAAAA=0.0000	0.763384	0.028283	0.208333	19
African	Sub	1434	AAAAAAAAAAAAAAAAA=0.9965	AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0035, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	0.993026	0.0	0.006974	0
African Others	Sub	56	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1378	AAAAAAAAAAAAAAAAA=0.9964	AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0036, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	0.992743	0.0	0.007257	0
Asian	Sub	58	AAAAAAAAAAAAAAAAA=0.97	AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.03, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	0.965517	0.034483	0.0	16
East Asian	Sub	40	AAAAAAAAAAAAAAAAA=0.95	AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.05, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	0.95	0.05	0.0	11
Other Asian	Sub	18	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	70	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	260	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	58	AAAAAAAAAAAAAAAAA=0.97	AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.03, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	0.965517	0.034483	0.0	16
Other	Sub	252	AAAAAAAAAAAAAAAAA=0.964	AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.032, AAAAAAAAAAAAAAAA=0.004, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	0.952	0.008	0.04	5

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(A)₁₇=0.808516	delAA=0.191484
Allele Frequency Aggregator	Total	Global	11396	(A)₁₇=0.83161	del(A)₇=0.00009, delAAA=0.00035, delAA=0.10460, delA=0.05669, dupA=0.00667, dupAA=0.00000
Allele Frequency Aggregator	European	Sub	9264	(A)₁₇=0.7948	del(A)₇=0.0001, delAAA=0.0004, delAA=0.1268, delA=0.0696, dupA=0.0082, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	1434	(A)₁₇=0.9965	del(A)₇=0.0000, delAAA=0.0000, delAA=0.0035, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	260	(A)₁₇=1.000	del(A)₇=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	252	(A)₁₇=0.964	del(A)₇=0.000, delAAA=0.000, delAA=0.032, delA=0.004, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	70	(A)₁₇=1.00	del(A)₇=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	South Asian	Sub	58	(A)₁₇=0.97	del(A)₇=0.00, delAAA=0.00, delAA=0.03, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Asian	Sub	58	(A)₁₇=0.97	del(A)₇=0.00, delAAA=0.00, delAA=0.03, delA=0.00, dupA=0.00, dupAA=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 14	NC_000014.9:g.20593528_20593534del
GRCh38.p14 chr 14	NC_000014.9:g.20593531_20593534del
GRCh38.p14 chr 14	NC_000014.9:g.20593532_20593534del
GRCh38.p14 chr 14	NC_000014.9:g.20593533_20593534del
GRCh38.p14 chr 14	NC_000014.9:g.20593534del
GRCh38.p14 chr 14	NC_000014.9:g.20593534dup
GRCh38.p14 chr 14	NC_000014.9:g.20593533_20593534dup
GRCh37.p13 chr 14	NC_000014.8:g.21061687_21061693del
GRCh37.p13 chr 14	NC_000014.8:g.21061690_21061693del
GRCh37.p13 chr 14	NC_000014.8:g.21061691_21061693del
GRCh37.p13 chr 14	NC_000014.8:g.21061692_21061693del
GRCh37.p13 chr 14	NC_000014.8:g.21061693del
GRCh37.p13 chr 14	NC_000014.8:g.21061693dup
GRCh37.p13 chr 14	NC_000014.8:g.21061692_21061693dup

Gene: RNASE11-AS1, RNASE11 and RNASE12 antisense RNA 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RNASE11-AS1 transcript	NR_122043.1: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)₁₇=	del(A)₇	del(A)₄	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr 14	NC_000014.9:g.20593518_20593534=	NC_000014.9:g.20593528_20593534del	NC_000014.9:g.20593531_20593534del	NC_000014.9:g.20593532_20593534del	NC_000014.9:g.20593533_20593534del	NC_000014.9:g.20593534del	NC_000014.9:g.20593534dup	NC_000014.9:g.20593533_20593534dup
GRCh37.p13 chr 14	NC_000014.8:g.21061677_21061693=	NC_000014.8:g.21061687_21061693del	NC_000014.8:g.21061690_21061693del	NC_000014.8:g.21061691_21061693del	NC_000014.8:g.21061692_21061693del	NC_000014.8:g.21061693del	NC_000014.8:g.21061693dup	NC_000014.8:g.21061692_21061693dup
RNASE11 transcript variant X3	XM_005267323.1:c.-22-9022=	XM_005267323.1:c.-22-9028_-22-9022del	XM_005267323.1:c.-22-9025_-22-9022del	XM_005267323.1:c.-22-9024_-22-9022del	XM_005267323.1:c.-22-9023_-22-9022del	XM_005267323.1:c.-22-9022del	XM_005267323.1:c.-22-9022dup	XM_005267323.1:c.-22-9023_-22-9022dup

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#.

49 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40494077	Dec 03, 2013 (138)
2	GMI	ss289207337	May 04, 2012 (137)
3	SSMP	ss664213469	Apr 01, 2015 (144)
4	EVA_UK10K_ALSPAC	ss1707968272	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1707968311	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1710625344	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1710625352	Apr 01, 2015 (144)
8	SYSTEMSBIOZJU	ss2628444843	Nov 08, 2017 (151)
9	SWEGEN	ss3011831032	Nov 08, 2017 (151)
10	EVA_DECODE	ss3696232979	Jul 13, 2019 (153)
11	EVA_DECODE	ss3696232980	Jul 13, 2019 (153)
12	EVA_DECODE	ss3696232981	Jul 13, 2019 (153)
13	EVA_DECODE	ss3696232982	Jul 13, 2019 (153)
14	EVA_DECODE	ss3696232983	Jul 13, 2019 (153)
15	ACPOP	ss3740179849	Jul 13, 2019 (153)
16	ACPOP	ss3740179850	Jul 13, 2019 (153)
17	PACBIO	ss3787600743	Jul 13, 2019 (153)
18	PACBIO	ss3792649515	Jul 13, 2019 (153)
19	PACBIO	ss3797533582	Jul 13, 2019 (153)
20	EVA	ss3833799162	Apr 27, 2020 (154)
21	KOGIC	ss3974486570	Apr 27, 2020 (154)
22	KOGIC	ss3974486571	Apr 27, 2020 (154)
23	KOGIC	ss3974486572	Apr 27, 2020 (154)
24	GNOMAD	ss4274145896	Apr 26, 2021 (155)
25	GNOMAD	ss4274145897	Apr 26, 2021 (155)
26	GNOMAD	ss4274145898	Apr 26, 2021 (155)
27	GNOMAD	ss4274145899	Apr 26, 2021 (155)
28	GNOMAD	ss4274145900	Apr 26, 2021 (155)
29	GNOMAD	ss4274145901	Apr 26, 2021 (155)
30	TOPMED	ss4962877884	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5212215799	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5212215800	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5212215801	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5212215802	Apr 26, 2021 (155)
35	1000G_HIGH_COVERAGE	ss5295429092	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5295429093	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5295429094	Oct 16, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5295429095	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5489568599	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5489568601	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5489568602	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5489568603	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5764726575	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5764726576	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5764726577	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5764726578	Oct 16, 2022 (156)
47	EVA	ss5840792291	Oct 16, 2022 (156)
48	EVA	ss5840792292	Oct 16, 2022 (156)
49	EVA	ss5850937792	Oct 16, 2022 (156)
50	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 35023343 (NC_000014.8:21061677:A: 1359/3854) Row 35023344 (NC_000014.8:21061676:AAA: 129/3854)	-	Oct 12, 2018 (152)
51	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 35023343 (NC_000014.8:21061677:A: 1359/3854) Row 35023344 (NC_000014.8:21061676:AAA: 129/3854)	-	Oct 12, 2018 (152)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444645661 (NC_000014.9:20593517::A 840/109468) Row 444645662 (NC_000014.9:20593517::AA 7/109520) Row 444645663 (NC_000014.9:20593517:A: 20454/109358)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444645661 (NC_000014.9:20593517::A 840/109468) Row 444645662 (NC_000014.9:20593517::AA 7/109520) Row 444645663 (NC_000014.9:20593517:A: 20454/109358)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444645661 (NC_000014.9:20593517::A 840/109468) Row 444645662 (NC_000014.9:20593517::AA 7/109520) Row 444645663 (NC_000014.9:20593517:A: 20454/109358)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444645661 (NC_000014.9:20593517::A 840/109468) Row 444645662 (NC_000014.9:20593517::AA 7/109520) Row 444645663 (NC_000014.9:20593517:A: 20454/109358)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444645661 (NC_000014.9:20593517::A 840/109468) Row 444645662 (NC_000014.9:20593517::AA 7/109520) Row 444645663 (NC_000014.9:20593517:A: 20454/109358)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444645661 (NC_000014.9:20593517::A 840/109468) Row 444645662 (NC_000014.9:20593517::AA 7/109520) Row 444645663 (NC_000014.9:20593517:A: 20454/109358)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444645661 (NC_000014.9:20593517::A 840/109468) Row 444645662 (NC_000014.9:20593517::AA 7/109520) Row 444645663 (NC_000014.9:20593517:A: 20454/109358)...	-	Apr 26, 2021 (155)
59	Korean Genome Project Submission ignored due to conflicting rows: Row 30864571 (NC_000014.9:20593518:A: 217/1832) Row 30864572 (NC_000014.9:20593517:AA: 445/1832) Row 30864573 (NC_000014.9:20593519::A 101/1832)	-	Apr 27, 2020 (154)
60	Korean Genome Project Submission ignored due to conflicting rows: Row 30864571 (NC_000014.9:20593518:A: 217/1832) Row 30864572 (NC_000014.9:20593517:AA: 445/1832) Row 30864573 (NC_000014.9:20593519::A 101/1832)	-	Apr 27, 2020 (154)
61	Korean Genome Project Submission ignored due to conflicting rows: Row 30864571 (NC_000014.9:20593518:A: 217/1832) Row 30864572 (NC_000014.9:20593517:AA: 445/1832) Row 30864573 (NC_000014.9:20593519::A 101/1832)	-	Apr 27, 2020 (154)
62	Northern Sweden Submission ignored due to conflicting rows: Row 13464714 (NC_000014.8:21061676:A: 90/582) Row 13464715 (NC_000014.8:21061676:AA: 89/582)	-	Jul 13, 2019 (153)
63	Northern Sweden Submission ignored due to conflicting rows: Row 13464714 (NC_000014.8:21061676:A: 90/582) Row 13464715 (NC_000014.8:21061676:AA: 89/582)	-	Jul 13, 2019 (153)
64	8.3KJPN Submission ignored due to conflicting rows: Row 70185106 (NC_000014.8:21061676:A: 538/16760) Row 70185107 (NC_000014.8:21061676:AA: 3737/16760) Row 70185108 (NC_000014.8:21061676:AAA: 12/16760)...	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 70185106 (NC_000014.8:21061676:A: 538/16760) Row 70185107 (NC_000014.8:21061676:AA: 3737/16760) Row 70185108 (NC_000014.8:21061676:AAA: 12/16760)...	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 70185106 (NC_000014.8:21061676:A: 538/16760) Row 70185107 (NC_000014.8:21061676:AA: 3737/16760) Row 70185108 (NC_000014.8:21061676:AAA: 12/16760)...	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 70185106 (NC_000014.8:21061676:A: 538/16760) Row 70185107 (NC_000014.8:21061676:AA: 3737/16760) Row 70185108 (NC_000014.8:21061676:AAA: 12/16760)...	-	Apr 26, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 98563679 (NC_000014.9:20593517:AA: 6437/28258) Row 98563680 (NC_000014.9:20593517:A: 872/28258) Row 98563681 (NC_000014.9:20593517:AAA: 18/28258)...	-	Oct 16, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 98563679 (NC_000014.9:20593517:AA: 6437/28258) Row 98563680 (NC_000014.9:20593517:A: 872/28258) Row 98563681 (NC_000014.9:20593517:AAA: 18/28258)...	-	Oct 16, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 98563679 (NC_000014.9:20593517:AA: 6437/28258) Row 98563680 (NC_000014.9:20593517:A: 872/28258) Row 98563681 (NC_000014.9:20593517:AAA: 18/28258)...	-	Oct 16, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 98563679 (NC_000014.9:20593517:AA: 6437/28258) Row 98563680 (NC_000014.9:20593517:A: 872/28258) Row 98563681 (NC_000014.9:20593517:AAA: 18/28258)...	-	Oct 16, 2022 (156)
72	TopMed	NC_000014.9 - 20593518	Apr 26, 2021 (155)
73	UK 10K study - Twins Submission ignored due to conflicting rows: Row 35023343 (NC_000014.8:21061677:A: 1318/3708) Row 35023344 (NC_000014.8:21061676:AAA: 150/3708)	-	Oct 12, 2018 (152)
74	UK 10K study - Twins Submission ignored due to conflicting rows: Row 35023343 (NC_000014.8:21061677:A: 1318/3708) Row 35023344 (NC_000014.8:21061676:AAA: 150/3708)	-	Oct 12, 2018 (152)
75	ALFA	NC_000014.9 - 20593518	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)
rs35754927	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4274145901	NC_000014.9:20593517:AAAAAAA:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
12579814430	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss3696232983, ss4274145900	NC_000014.9:20593517:AAAA:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss1707968272, ss1707968311, ss3011831032, ss5212215801, ss5840792292	NC_000014.8:21061676:AAA:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4274145899, ss5295429095, ss5489568603, ss5764726577	NC_000014.9:20593517:AAA:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
12579814430	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3696232982	NC_000014.9:20593518:AAA:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss289207337	NC_000014.7:20131516:AA:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss664213469, ss2628444843, ss3740179850, ss5212215800, ss5840792291	NC_000014.8:21061676:AA:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss1710625344, ss1710625352	NC_000014.8:21061677:AA:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
178423543, ss3974486571, ss4274145898, ss4962877884, ss5295429093, ss5489568602, ss5764726575, ss5850937792	NC_000014.9:20593517:AA:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
12579814430	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3696232981	NC_000014.9:20593519:AA:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3740179849, ss3787600743, ss3792649515, ss3797533582, ss3833799162, ss5212215799	NC_000014.8:21061676:A:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
	NC_000014.8:21061677:A:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5295429094, ss5489568599, ss5764726576	NC_000014.9:20593517:A:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
12579814430	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3974486570	NC_000014.9:20593518:A:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3696232980	NC_000014.9:20593520:A:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss40494077	NT_026437.12:2061692:A:	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5212215802	NC_000014.8:21061676::A	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4274145896, ss5295429092, ss5489568601, ss5764726578	NC_000014.9:20593517::A	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
12579814430	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3974486572	NC_000014.9:20593519::A	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3696232979	NC_000014.9:20593521::A	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4274145897	NC_000014.9:20593517::AA	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
12579814430	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000014.9:20593517:AAAAAAAAAAAAA… NC_000014.9:20593517:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(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 rs200096207

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

rs200096207