Name: rs55740223
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.

rs55740223

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:60228340-60228358 (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(T)₁₀ / del(T)₄ / delTTT / delT…
del(T)₁₀ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / insTTG(T)₁₂CC(T)₂₀ / insTTTG(T)₃₃ / ins(TTTTTCTTTT)₂TTTTTTTTTTTTTTTTTT / dup(T)₇ / ins(T)₇C(T)₂₀ / ins(T)₈C(T)₂₁ / ins(T)₁₁(CTTTTTTTTT)₂TTTTTTTTTTT / ins(T)₁₆C(T)₂₀ / ins(T)₃₆
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.2352 (1273/5412, ALFA)
(T)₁₉=0.3868 (1937/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LINC00434 : 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	5412	TTTTTTTTTTTTTTTTTTT=0.6609	TTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0802, TTTTTTTTTTTTTTTTTT=0.2352, TTTTTTTTTTTTTTTTTTTT=0.0233, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0004, TTTTTTTTTTTTTTTTTTTTT=0.0000	0.670275	0.128552	0.201173	32
European	Sub	4760	TTTTTTTTTTTTTTTTTTT=0.6153	TTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0910, TTTTTTTTTTTTTTTTTT=0.2670, TTTTTTTTTTTTTTTTTTTT=0.0263, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0004, TTTTTTTTTTTTTTTTTTTTT=0.0000	0.614369	0.150555	0.235077	32
African	Sub	540	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	30	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	510	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	12	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	6	TTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	6	TTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	12	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	18	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	12	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	58	TTTTTTTTTTTTTTTTTTT=0.93	TTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.02, TTTTTTTTTTTTTTTTTT=0.03, TTTTTTTTTTTTTTTTTTTT=0.02, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	0.962963	0.0	0.037037	0

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	5412	(T)₁₉=0.6609	del(T)₁₀=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0802, delT=0.2352, dupT=0.0233, dupTT=0.0000, ins(T)₃₆=0.0004
Allele Frequency Aggregator	European	Sub	4760	(T)₁₉=0.6153	del(T)₁₀=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0910, delT=0.2670, dupT=0.0263, dupTT=0.0000, ins(T)₃₆=0.0004
Allele Frequency Aggregator	African	Sub	540	(T)₁₉=1.000	del(T)₁₀=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, ins(T)₃₆=0.000
Allele Frequency Aggregator	Other	Sub	58	(T)₁₉=0.93	del(T)₁₀=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.02, delT=0.03, dupT=0.02, dupTT=0.00, ins(T)₃₆=0.00
Allele Frequency Aggregator	Latin American 2	Sub	18	(T)₁₉=1.00	del(T)₁₀=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, ins(T)₃₆=0.00
Allele Frequency Aggregator	Latin American 1	Sub	12	(T)₁₉=1.00	del(T)₁₀=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, ins(T)₃₆=0.00
Allele Frequency Aggregator	South Asian	Sub	12	(T)₁₉=1.00	del(T)₁₀=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, ins(T)₃₆=0.00
Allele Frequency Aggregator	Asian	Sub	12	(T)₁₉=1.00	del(T)₁₀=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, ins(T)₃₆=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₉=0.3868	delT=0.6132
1000Genomes	African	Sub	1322	(T)₁₉=0.4720	delT=0.5280
1000Genomes	East Asian	Sub	1008	(T)₁₉=0.4603	delT=0.5397
1000Genomes	Europe	Sub	1006	(T)₁₉=0.3241	delT=0.6759
1000Genomes	South Asian	Sub	978	(T)₁₉=0.379	delT=0.621
1000Genomes	American	Sub	694	(T)₁₉=0.219	delT=0.781

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 13	NC_000013.11:g.60228349_60228358del
GRCh38.p14 chr 13	NC_000013.11:g.60228355_60228358del
GRCh38.p14 chr 13	NC_000013.11:g.60228356_60228358del
GRCh38.p14 chr 13	NC_000013.11:g.60228357_60228358del
GRCh38.p14 chr 13	NC_000013.11:g.60228358del
GRCh38.p14 chr 13	NC_000013.11:g.60228358dup
GRCh38.p14 chr 13	NC_000013.11:g.60228357_60228358dup
GRCh38.p14 chr 13	NC_000013.11:g.60228340_60228358T[21]GTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 13	NC_000013.11:g.60228340_60228358T[22]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 13	NC_000013.11:g.60228340_60228358T[24]CTTTTTTTTT[2]T[13]
GRCh38.p14 chr 13	NC_000013.11:g.60228352_60228358dup
GRCh38.p14 chr 13	NC_000013.11:g.60228340_60228358T[26]CTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 13	NC_000013.11:g.60228340_60228358T[27]CTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 13	NC_000013.11:g.60228340_60228358T[30]CTTTTTTTTT[2]T[11]
GRCh38.p14 chr 13	NC_000013.11:g.60228340_60228358T[35]CTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 13	NC_000013.11:g.60228358_60228359insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 13	NC_000013.10:g.60802483_60802492del
GRCh37.p13 chr 13	NC_000013.10:g.60802489_60802492del
GRCh37.p13 chr 13	NC_000013.10:g.60802490_60802492del
GRCh37.p13 chr 13	NC_000013.10:g.60802491_60802492del
GRCh37.p13 chr 13	NC_000013.10:g.60802492del
GRCh37.p13 chr 13	NC_000013.10:g.60802492dup
GRCh37.p13 chr 13	NC_000013.10:g.60802491_60802492dup
GRCh37.p13 chr 13	NC_000013.10:g.60802474_60802492T[21]GTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 13	NC_000013.10:g.60802474_60802492T[22]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 13	NC_000013.10:g.60802474_60802492T[24]CTTTTTTTTT[2]T[13]
GRCh37.p13 chr 13	NC_000013.10:g.60802486_60802492dup
GRCh37.p13 chr 13	NC_000013.10:g.60802474_60802492T[26]CTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 13	NC_000013.10:g.60802474_60802492T[27]CTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 13	NC_000013.10:g.60802474_60802492T[30]CTTTTTTTTT[2]T[11]
GRCh37.p13 chr 13	NC_000013.10:g.60802474_60802492T[35]CTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 13	NC_000013.10:g.60802492_60802493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: LINC00434, long intergenic non-protein coding RNA 434 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC00434 transcript	NR_047022.1: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	(T)₁₉=	del(T)₁₀	del(T)₄	delTTT	delTT	delT	dupT	dupTT	insTTG(T)₁₂CC(T)₂₀	insTTTG(T)₃₃	ins(TTTTTCTTTT)₂TTTTTTTTTTTTTTTTTT	dup(T)₇	ins(T)₇C(T)₂₀	ins(T)₈C(T)₂₁	ins(T)₁₁(CTTTTTTTTT)₂TTTTTTTTTTT	ins(T)₁₆C(T)₂₀	ins(T)₃₆
GRCh38.p14 chr 13	NC_000013.11:g.60228340_60228358=	NC_000013.11:g.60228349_60228358del	NC_000013.11:g.60228355_60228358del	NC_000013.11:g.60228356_60228358del	NC_000013.11:g.60228357_60228358del	NC_000013.11:g.60228358del	NC_000013.11:g.60228358dup	NC_000013.11:g.60228357_60228358dup	NC_000013.11:g.60228340_60228358T[21]GTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTT[1]	NC_000013.11:g.60228340_60228358T[22]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000013.11:g.60228340_60228358T[24]CTTTTTTTTT[2]T[13]	NC_000013.11:g.60228352_60228358dup	NC_000013.11:g.60228340_60228358T[26]CTTTTTTTTTTTTTTTTTTTT[1]	NC_000013.11:g.60228340_60228358T[27]CTTTTTTTTTTTTTTTTTTTTT[1]	NC_000013.11:g.60228340_60228358T[30]CTTTTTTTTT[2]T[11]	NC_000013.11:g.60228340_60228358T[35]CTTTTTTTTTTTTTTTTTTTT[1]	NC_000013.11:g.60228358_60228359insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 13	NC_000013.10:g.60802474_60802492=	NC_000013.10:g.60802483_60802492del	NC_000013.10:g.60802489_60802492del	NC_000013.10:g.60802490_60802492del	NC_000013.10:g.60802491_60802492del	NC_000013.10:g.60802492del	NC_000013.10:g.60802492dup	NC_000013.10:g.60802491_60802492dup	NC_000013.10:g.60802474_60802492T[21]GTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTT[1]	NC_000013.10:g.60802474_60802492T[22]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000013.10:g.60802474_60802492T[24]CTTTTTTTTT[2]T[13]	NC_000013.10:g.60802486_60802492dup	NC_000013.10:g.60802474_60802492T[26]CTTTTTTTTTTTTTTTTTTTT[1]	NC_000013.10:g.60802474_60802492T[27]CTTTTTTTTTTTTTTTTTTTTT[1]	NC_000013.10:g.60802474_60802492T[30]CTTTTTTTTT[2]T[11]	NC_000013.10:g.60802474_60802492T[35]CTTTTTTTTTTTTTTTTTTTT[1]	NC_000013.10:g.60802492_60802493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

58 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77959706	Dec 06, 2007 (129)
2	HUMANGENOME_JCVI	ss95622272	Mar 15, 2016 (147)
3	HUMANGENOME_JCVI	ss95765645	Mar 15, 2016 (147)
4	GMI	ss289181550	May 04, 2012 (137)
5	1000GENOMES	ss1373239561	Aug 21, 2014 (142)
6	EVA_UK10K_ALSPAC	ss1707811620	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1707812051	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1710605294	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1710605297	Apr 01, 2015 (144)
10	SWEGEN	ss3011127626	Nov 08, 2017 (151)
11	MCHAISSO	ss3064599335	Jan 10, 2018 (151)
12	EVA_DECODE	ss3695420378	Jul 13, 2019 (153)
13	EVA_DECODE	ss3695420379	Jul 13, 2019 (153)
14	EVA_DECODE	ss3695420380	Jul 13, 2019 (153)
15	EVA_DECODE	ss3695420381	Jul 13, 2019 (153)
16	PACBIO	ss3787476911	Jul 13, 2019 (153)
17	PACBIO	ss3792540017	Jul 13, 2019 (153)
18	PACBIO	ss3792540018	Jul 13, 2019 (153)
19	PACBIO	ss3797423865	Jul 13, 2019 (153)
20	PACBIO	ss3797423866	Jul 13, 2019 (153)
21	KHV_HUMAN_GENOMES	ss3816870343	Jul 13, 2019 (153)
22	EVA	ss3833579755	Apr 27, 2020 (154)
23	GNOMAD	ss4267040692	Apr 26, 2021 (155)
24	GNOMAD	ss4267040693	Apr 26, 2021 (155)
25	GNOMAD	ss4267040694	Apr 26, 2021 (155)
26	GNOMAD	ss4267040695	Apr 26, 2021 (155)
27	GNOMAD	ss4267040696	Apr 26, 2021 (155)
28	GNOMAD	ss4267040697	Apr 26, 2021 (155)
29	GNOMAD	ss4267040698	Apr 26, 2021 (155)
30	GNOMAD	ss4267040699	Apr 26, 2021 (155)
31	GNOMAD	ss4267040700	Apr 26, 2021 (155)
32	GNOMAD	ss4267040701	Apr 26, 2021 (155)
33	GNOMAD	ss4267040703	Apr 26, 2021 (155)
34	GNOMAD	ss4267040704	Apr 26, 2021 (155)
35	GNOMAD	ss4267040705	Apr 26, 2021 (155)
36	GNOMAD	ss4267040706	Apr 26, 2021 (155)
37	GNOMAD	ss4267040707	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5210297014	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5210297015	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5210297016	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5210297017	Apr 26, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5293957201	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5293957202	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5293957203	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5293957205	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5293957206	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5488295734	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5488295735	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5488295736	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5488295738	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5762256701	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5762256702	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5762256703	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5762256704	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5762256705	Oct 16, 2022 (156)
56	EVA	ss5839568477	Oct 16, 2022 (156)
57	EVA	ss5839568478	Oct 16, 2022 (156)
58	EVA	ss5850757038	Oct 16, 2022 (156)
59	1000Genomes	NC_000013.10 - 60802474	Oct 12, 2018 (152)
60	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 34093695 (NC_000013.10:60802474:T: 3213/3854) Row 34093696 (NC_000013.10:60802473:TTT: 365/3854)	-	Oct 12, 2018 (152)
61	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 34093695 (NC_000013.10:60802474:T: 3213/3854) Row 34093696 (NC_000013.10:60802473:TTT: 365/3854)	-	Oct 12, 2018 (152)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 432696388 (NC_000013.11:60228339::T 5164/90404) Row 432696389 (NC_000013.11:60228339::TT 21/90450) Row 432696390 (NC_000013.11:60228339::TTTTTTT 1/90450)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 68266321 (NC_000013.10:60802473:TT: 7144/16494) Row 68266322 (NC_000013.10:60802473:T: 2007/16494) Row 68266323 (NC_000013.10:60802473::T 405/16494)...	-	Apr 26, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 68266321 (NC_000013.10:60802473:TT: 7144/16494) Row 68266322 (NC_000013.10:60802473:T: 2007/16494) Row 68266323 (NC_000013.10:60802473::T 405/16494)...	-	Apr 26, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 68266321 (NC_000013.10:60802473:TT: 7144/16494) Row 68266322 (NC_000013.10:60802473:T: 2007/16494) Row 68266323 (NC_000013.10:60802473::T 405/16494)...	-	Apr 26, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 68266321 (NC_000013.10:60802473:TT: 7144/16494) Row 68266322 (NC_000013.10:60802473:T: 2007/16494) Row 68266323 (NC_000013.10:60802473::T 405/16494)...	-	Apr 26, 2021 (155)
81	14KJPN Submission ignored due to conflicting rows: Row 96093805 (NC_000013.11:60228339:T: 3157/25444) Row 96093806 (NC_000013.11:60228339:TT: 11182/25444) Row 96093807 (NC_000013.11:60228339::T 625/25444)...	-	Oct 16, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 96093805 (NC_000013.11:60228339:T: 3157/25444) Row 96093806 (NC_000013.11:60228339:TT: 11182/25444) Row 96093807 (NC_000013.11:60228339::T 625/25444)...	-	Oct 16, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 96093805 (NC_000013.11:60228339:T: 3157/25444) Row 96093806 (NC_000013.11:60228339:TT: 11182/25444) Row 96093807 (NC_000013.11:60228339::T 625/25444)...	-	Oct 16, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 96093805 (NC_000013.11:60228339:T: 3157/25444) Row 96093806 (NC_000013.11:60228339:TT: 11182/25444) Row 96093807 (NC_000013.11:60228339::T 625/25444)...	-	Oct 16, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 96093805 (NC_000013.11:60228339:T: 3157/25444) Row 96093806 (NC_000013.11:60228339:TT: 11182/25444) Row 96093807 (NC_000013.11:60228339::T 625/25444)...	-	Oct 16, 2022 (156)
86	UK 10K study - Twins Submission ignored due to conflicting rows: Row 34093695 (NC_000013.10:60802474:T: 3113/3708) Row 34093696 (NC_000013.10:60802473:TTT: 330/3708)	-	Oct 12, 2018 (152)
87	UK 10K study - Twins Submission ignored due to conflicting rows: Row 34093695 (NC_000013.10:60802474:T: 3113/3708) Row 34093696 (NC_000013.10:60802473:TTT: 330/3708)	-	Oct 12, 2018 (152)
88	ALFA	NC_000013.11 - 60228340	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)
rs71089535	Oct 13, 2011 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4267040707	NC_000013.11:60228339:TTTTTTTTTT:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
873396921	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4267040706, ss5762256705	NC_000013.11:60228339:TTTT:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
873396921	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss1707811620, ss1707812051, ss3011127626, ss5210297017, ss5839568478	NC_000013.10:60802473:TTT:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3695420378, ss4267040705, ss5293957202, ss5488295738, ss5762256704	NC_000013.11:60228339:TTT:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
873396921	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss95765645	NT_024524.14:41782473:TTT:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss289181550	NC_000013.9:59700474:TT:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss77959706	NC_000013.9:59700491:TT:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3787476911, ss3792540017, ss3797423865, ss5210297014, ss5839568477	NC_000013.10:60802473:TT:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss1710605294, ss1710605297	NC_000013.10:60802474:TT:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3064599335, ss4267040704, ss5293957203, ss5488295736, ss5762256702, ss5850757038	NC_000013.11:60228339:TT:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
873396921	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3695420379	NC_000013.11:60228340:TT:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
61361958, ss1373239561, ss3792540018, ss3797423866, ss3833579755, ss5210297015	NC_000013.10:60802473:T:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
	NC_000013.10:60802474:T:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3816870343, ss4267040703, ss5293957201, ss5488295734, ss5762256701	NC_000013.11:60228339:T:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
873396921	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3695420380	NC_000013.11:60228341:T:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss95765645	NT_024524.14:41782473:TTT:TT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss95622272	NT_024524.14:41782491:T:	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5210297016	NC_000013.10:60802473::T	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4267040692, ss5293957205, ss5488295735, ss5762256703	NC_000013.11:60228339::T	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
873396921	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3695420381	NC_000013.11:60228342::T	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4267040693, ss5293957206	NC_000013.11:60228339::TT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
873396921	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4267040695	NC_000013.11:60228339::TTTTTTTTTTT… NC_000013.11:60228339::TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTCCT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTT	(self)
ss4267040696	NC_000013.11:60228339::TTTTTTTTTTT… NC_000013.11:60228339::TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4267040697	NC_000013.11:60228339::TTTTTTTTTTT… NC_000013.11:60228339::TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTCTTT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4267040694	NC_000013.11:60228339::TTTTTTT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4267040698	NC_000013.11:60228339::TTTTTTTTTTT… NC_000013.11:60228339::TTTTTTTTTTTTTTTTTTTTTTTTTTCT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT	(self)
ss4267040699	NC_000013.11:60228339::TTTTTTTTTTT… NC_000013.11:60228339::TTTTTTTTTTTTTTTTTTTTTTTTTTTCTT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT	(self)
ss4267040700	NC_000013.11:60228339::TTTTTTTTTTT… NC_000013.11:60228339::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTCT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT	(self)
ss4267040701	NC_000013.11:60228339::TTTTTTTTTTT… NC_000013.11:60228339::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT	(self)
873396921	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000013.11:60228339:TTTTTTTTTTTT… NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs55740223

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

rs55740223