Name: rs10553071
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.

rs10553071

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:41212397-41212414 (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)₇ / del(T)₅ / del(T)₄ / delT…
del(T)₇ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆
Variation Type: Indel Insertion and Deletion
Frequency: delTT=0.1027 (842/8198, ALFA)
delTT=0.3748 (1877/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: L3MBTL2 : Intron Variant
L3MBTL2-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	8198	TTTTTTTTTTTTTTTTTT=0.8509	TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.1027, TTTTTTTTTTTTTTTTT=0.0428, TTTTTTTTTTTTTTTTTTT=0.0035, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	0.837197	0.029043	0.13376	32
European	Sub	7048	TTTTTTTTTTTTTTTTTT=0.8269	TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.1195, TTTTTTTTTTTTTTTTT=0.0495, TTTTTTTTTTTTTTTTTTT=0.0041, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	0.807801	0.034288	0.157911	32
African	Sub	506	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	18	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	488	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	80	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	66	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	42	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	322	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	36	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	164	TTTTTTTTTTTTTTTTTT=0.988	TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.012, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	8198	(T)₁₈=0.8509	delTTT=0.0000, delTT=0.1027, delT=0.0428, dupT=0.0035, dupTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	European	Sub	7048	(T)₁₈=0.8269	delTTT=0.0000, delTT=0.1195, delT=0.0495, dupT=0.0041, dupTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	African	Sub	506	(T)₁₈=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	322	(T)₁₈=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Other	Sub	164	(T)₁₈=0.988	delTTT=0.000, delTT=0.000, delT=0.012, dupT=0.000, dupTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Asian	Sub	80	(T)₁₈=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	42	(T)₁₈=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	36	(T)₁₈=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₄=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₈=0.6252	delTT=0.3748
1000Genomes	African	Sub	1322	(T)₁₈=0.4002	delTT=0.5998
1000Genomes	East Asian	Sub	1008	(T)₁₈=0.8056	delTT=0.1944
1000Genomes	Europe	Sub	1006	(T)₁₈=0.6302	delTT=0.3698
1000Genomes	South Asian	Sub	978	(T)₁₈=0.717	delTT=0.283
1000Genomes	American	Sub	694	(T)₁₈=0.656	delTT=0.344

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 22	NC_000022.11:g.41212408_41212414del
GRCh38.p14 chr 22	NC_000022.11:g.41212410_41212414del
GRCh38.p14 chr 22	NC_000022.11:g.41212411_41212414del
GRCh38.p14 chr 22	NC_000022.11:g.41212412_41212414del
GRCh38.p14 chr 22	NC_000022.11:g.41212413_41212414del
GRCh38.p14 chr 22	NC_000022.11:g.41212414del
GRCh38.p14 chr 22	NC_000022.11:g.41212414dup
GRCh38.p14 chr 22	NC_000022.11:g.41212413_41212414dup
GRCh38.p14 chr 22	NC_000022.11:g.41212412_41212414dup
GRCh38.p14 chr 22	NC_000022.11:g.41212411_41212414dup
GRCh38.p14 chr 22	NC_000022.11:g.41212410_41212414dup
GRCh38.p14 chr 22	NC_000022.11:g.41212409_41212414dup
GRCh37.p13 chr 22	NC_000022.10:g.41608412_41608418del
GRCh37.p13 chr 22	NC_000022.10:g.41608414_41608418del
GRCh37.p13 chr 22	NC_000022.10:g.41608415_41608418del
GRCh37.p13 chr 22	NC_000022.10:g.41608416_41608418del
GRCh37.p13 chr 22	NC_000022.10:g.41608417_41608418del
GRCh37.p13 chr 22	NC_000022.10:g.41608418del
GRCh37.p13 chr 22	NC_000022.10:g.41608418dup
GRCh37.p13 chr 22	NC_000022.10:g.41608417_41608418dup
GRCh37.p13 chr 22	NC_000022.10:g.41608416_41608418dup
GRCh37.p13 chr 22	NC_000022.10:g.41608415_41608418dup
GRCh37.p13 chr 22	NC_000022.10:g.41608414_41608418dup
GRCh37.p13 chr 22	NC_000022.10:g.41608413_41608418dup

Gene: L3MBTL2, L3MBTL histone methyl-lysine binding protein 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
L3MBTL2 transcript	NM_031488.5:c.263-1485_26… NM_031488.5:c.263-1485_263-1479del	N/A	Intron Variant
L3MBTL2 transcript variant X2	XM_017028976.2:c.262+2475… XM_017028976.2:c.262+2475_262+2481del	N/A	Intron Variant
L3MBTL2 transcript variant X1	XM_047441536.1:c.263-1485… XM_047441536.1:c.263-1485_263-1479del	N/A	Intron Variant
L3MBTL2 transcript variant X3	XM_017028977.2:c.	N/A	Genic Upstream Transcript Variant
L3MBTL2 transcript variant X4	XM_047441537.1:c.	N/A	Genic Upstream Transcript Variant

Gene: L3MBTL2-AS1, L3MBTL2 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
L3MBTL2-AS1 transcript	NR_148200.1: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)₁₈=	del(T)₇	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆
GRCh38.p14 chr 22	NC_000022.11:g.41212397_41212414=	NC_000022.11:g.41212408_41212414del	NC_000022.11:g.41212410_41212414del	NC_000022.11:g.41212411_41212414del	NC_000022.11:g.41212412_41212414del	NC_000022.11:g.41212413_41212414del	NC_000022.11:g.41212414del	NC_000022.11:g.41212414dup	NC_000022.11:g.41212413_41212414dup	NC_000022.11:g.41212412_41212414dup	NC_000022.11:g.41212411_41212414dup	NC_000022.11:g.41212410_41212414dup	NC_000022.11:g.41212409_41212414dup
GRCh37.p13 chr 22	NC_000022.10:g.41608401_41608418=	NC_000022.10:g.41608412_41608418del	NC_000022.10:g.41608414_41608418del	NC_000022.10:g.41608415_41608418del	NC_000022.10:g.41608416_41608418del	NC_000022.10:g.41608417_41608418del	NC_000022.10:g.41608418del	NC_000022.10:g.41608418dup	NC_000022.10:g.41608417_41608418dup	NC_000022.10:g.41608416_41608418dup	NC_000022.10:g.41608415_41608418dup	NC_000022.10:g.41608414_41608418dup	NC_000022.10:g.41608413_41608418dup
L3MBTL2 transcript	NM_031488.4:c.263-1496=	NM_031488.4:c.263-1485_263-1479del	NM_031488.4:c.263-1483_263-1479del	NM_031488.4:c.263-1482_263-1479del	NM_031488.4:c.263-1481_263-1479del	NM_031488.4:c.263-1480_263-1479del	NM_031488.4:c.263-1479del	NM_031488.4:c.263-1479dup	NM_031488.4:c.263-1480_263-1479dup	NM_031488.4:c.263-1481_263-1479dup	NM_031488.4:c.263-1482_263-1479dup	NM_031488.4:c.263-1483_263-1479dup	NM_031488.4:c.263-1484_263-1479dup
L3MBTL2 transcript	NM_031488.5:c.263-1496=	NM_031488.5:c.263-1485_263-1479del	NM_031488.5:c.263-1483_263-1479del	NM_031488.5:c.263-1482_263-1479del	NM_031488.5:c.263-1481_263-1479del	NM_031488.5:c.263-1480_263-1479del	NM_031488.5:c.263-1479del	NM_031488.5:c.263-1479dup	NM_031488.5:c.263-1480_263-1479dup	NM_031488.5:c.263-1481_263-1479dup	NM_031488.5:c.263-1482_263-1479dup	NM_031488.5:c.263-1483_263-1479dup	NM_031488.5:c.263-1484_263-1479dup
CHADL transcript variant X2	XM_005261371.1:c.2263-2446=	XM_005261371.1:c.2263-2452_2263-2446del	XM_005261371.1:c.2263-2450_2263-2446del	XM_005261371.1:c.2263-2449_2263-2446del	XM_005261371.1:c.2263-2448_2263-2446del	XM_005261371.1:c.2263-2447_2263-2446del	XM_005261371.1:c.2263-2446del	XM_005261371.1:c.2263-2446dup	XM_005261371.1:c.2263-2447_2263-2446dup	XM_005261371.1:c.2263-2448_2263-2446dup	XM_005261371.1:c.2263-2449_2263-2446dup	XM_005261371.1:c.2263-2450_2263-2446dup	XM_005261371.1:c.2263-2451_2263-2446dup
L3MBTL2 transcript variant X1	XM_005261763.1:c.-511-1496=	XM_005261763.1:c.-511-1485_-511-1479del	XM_005261763.1:c.-511-1483_-511-1479del	XM_005261763.1:c.-511-1482_-511-1479del	XM_005261763.1:c.-511-1481_-511-1479del	XM_005261763.1:c.-511-1480_-511-1479del	XM_005261763.1:c.-511-1479del	XM_005261763.1:c.-511-1479dup	XM_005261763.1:c.-511-1480_-511-1479dup	XM_005261763.1:c.-511-1481_-511-1479dup	XM_005261763.1:c.-511-1482_-511-1479dup	XM_005261763.1:c.-511-1483_-511-1479dup	XM_005261763.1:c.-511-1484_-511-1479dup
L3MBTL2 transcript variant X2	XM_017028976.2:c.262+2464=	XM_017028976.2:c.262+2475_262+2481del	XM_017028976.2:c.262+2477_262+2481del	XM_017028976.2:c.262+2478_262+2481del	XM_017028976.2:c.262+2479_262+2481del	XM_017028976.2:c.262+2480_262+2481del	XM_017028976.2:c.262+2481del	XM_017028976.2:c.262+2481dup	XM_017028976.2:c.262+2480_262+2481dup	XM_017028976.2:c.262+2479_262+2481dup	XM_017028976.2:c.262+2478_262+2481dup	XM_017028976.2:c.262+2477_262+2481dup	XM_017028976.2:c.262+2476_262+2481dup
L3MBTL2 transcript variant X1	XM_047441536.1:c.263-1496=	XM_047441536.1:c.263-1485_263-1479del	XM_047441536.1:c.263-1483_263-1479del	XM_047441536.1:c.263-1482_263-1479del	XM_047441536.1:c.263-1481_263-1479del	XM_047441536.1:c.263-1480_263-1479del	XM_047441536.1:c.263-1479del	XM_047441536.1:c.263-1479dup	XM_047441536.1:c.263-1480_263-1479dup	XM_047441536.1:c.263-1481_263-1479dup	XM_047441536.1:c.263-1482_263-1479dup	XM_047441536.1:c.263-1483_263-1479dup	XM_047441536.1:c.263-1484_263-1479dup

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#.

51 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC	ss147908	Mar 15, 2016 (147)
2	ABI	ss41502037	Mar 13, 2006 (126)
3	BUSHMAN	ss193648841	Jul 04, 2010 (132)
4	1000GENOMES	ss1379070262	Aug 21, 2014 (142)
5	EVA_UK10K_ALSPAC	ss1709603809	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1709604371	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1710846038	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1710846039	Apr 01, 2015 (144)
9	SWEGEN	ss3019364537	Nov 08, 2017 (151)
10	URBANLAB	ss3651186522	Oct 12, 2018 (152)
11	EVA_DECODE	ss3708274727	Jul 13, 2019 (153)
12	EVA_DECODE	ss3708274728	Jul 13, 2019 (153)
13	EVA_DECODE	ss3708274729	Jul 13, 2019 (153)
14	EVA_DECODE	ss3708274730	Jul 13, 2019 (153)
15	EVA_DECODE	ss3708274731	Jul 13, 2019 (153)
16	ACPOP	ss3743964447	Jul 13, 2019 (153)
17	ACPOP	ss3743964448	Jul 13, 2019 (153)
18	PACBIO	ss3788836416	Jul 13, 2019 (153)
19	PACBIO	ss3793700073	Jul 13, 2019 (153)
20	PACBIO	ss3798586549	Jul 13, 2019 (153)
21	KHV_HUMAN_GENOMES	ss3822587258	Jul 13, 2019 (153)
22	EVA	ss3836009512	Apr 27, 2020 (154)
23	EVA	ss3841633166	Apr 27, 2020 (154)
24	GNOMAD	ss4365250175	Apr 26, 2021 (155)
25	GNOMAD	ss4365250176	Apr 26, 2021 (155)
26	GNOMAD	ss4365250177	Apr 26, 2021 (155)
27	GNOMAD	ss4365250178	Apr 26, 2021 (155)
28	GNOMAD	ss4365250179	Apr 26, 2021 (155)
29	GNOMAD	ss4365250180	Apr 26, 2021 (155)
30	GNOMAD	ss4365250182	Apr 26, 2021 (155)
31	GNOMAD	ss4365250183	Apr 26, 2021 (155)
32	GNOMAD	ss4365250184	Apr 26, 2021 (155)
33	GNOMAD	ss4365250185	Apr 26, 2021 (155)
34	GNOMAD	ss4365250186	Apr 26, 2021 (155)
35	GNOMAD	ss4365250187	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5232804786	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5232804787	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5232804788	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5232804789	Apr 26, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5311232919	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5311232920	Oct 16, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5311232921	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5311232922	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5503062969	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5503062970	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5503062971	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5793985249	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5793985250	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5793985251	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5793985252	Oct 16, 2022 (156)
51	EVA	ss5853407876	Oct 16, 2022 (156)
52	1000Genomes	NC_000022.10 - 41608401	Oct 12, 2018 (152)
53	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 44733241 (NC_000022.10:41608401:T: 1734/3854) Row 44733242 (NC_000022.10:41608400:TTT: 244/3854)	-	Oct 12, 2018 (152)
54	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 44733241 (NC_000022.10:41608401:T: 1734/3854) Row 44733242 (NC_000022.10:41608400:TTT: 244/3854)	-	Oct 12, 2018 (152)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 571069451 (NC_000022.11:41212396::T 3232/115370) Row 571069452 (NC_000022.11:41212396::TT 26/115400) Row 571069453 (NC_000022.11:41212396::TTT 1/115400)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 571069451 (NC_000022.11:41212396::T 3232/115370) Row 571069452 (NC_000022.11:41212396::TT 26/115400) Row 571069453 (NC_000022.11:41212396::TTT 1/115400)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 571069451 (NC_000022.11:41212396::T 3232/115370) Row 571069452 (NC_000022.11:41212396::TT 26/115400) Row 571069453 (NC_000022.11:41212396::TTT 1/115400)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 571069451 (NC_000022.11:41212396::T 3232/115370) Row 571069452 (NC_000022.11:41212396::TT 26/115400) Row 571069453 (NC_000022.11:41212396::TTT 1/115400)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 571069451 (NC_000022.11:41212396::T 3232/115370) Row 571069452 (NC_000022.11:41212396::TT 26/115400) Row 571069453 (NC_000022.11:41212396::TTT 1/115400)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 571069451 (NC_000022.11:41212396::T 3232/115370) Row 571069452 (NC_000022.11:41212396::TT 26/115400) Row 571069453 (NC_000022.11:41212396::TTT 1/115400)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 571069451 (NC_000022.11:41212396::T 3232/115370) Row 571069452 (NC_000022.11:41212396::TT 26/115400) Row 571069453 (NC_000022.11:41212396::TTT 1/115400)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 571069451 (NC_000022.11:41212396::T 3232/115370) Row 571069452 (NC_000022.11:41212396::TT 26/115400) Row 571069453 (NC_000022.11:41212396::TTT 1/115400)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 571069451 (NC_000022.11:41212396::T 3232/115370) Row 571069452 (NC_000022.11:41212396::TT 26/115400) Row 571069453 (NC_000022.11:41212396::TTT 1/115400)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 571069451 (NC_000022.11:41212396::T 3232/115370) Row 571069452 (NC_000022.11:41212396::TT 26/115400) Row 571069453 (NC_000022.11:41212396::TTT 1/115400)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 571069451 (NC_000022.11:41212396::T 3232/115370) Row 571069452 (NC_000022.11:41212396::TT 26/115400) Row 571069453 (NC_000022.11:41212396::TTT 1/115400)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 571069451 (NC_000022.11:41212396::T 3232/115370) Row 571069452 (NC_000022.11:41212396::TT 26/115400) Row 571069453 (NC_000022.11:41212396::TTT 1/115400)...	-	Apr 26, 2021 (155)
67	Northern Sweden Submission ignored due to conflicting rows: Row 17249312 (NC_000022.10:41608400:TT: 18/588) Row 17249313 (NC_000022.10:41608400:T: 9/588)	-	Jul 13, 2019 (153)
68	Northern Sweden Submission ignored due to conflicting rows: Row 17249312 (NC_000022.10:41608400:TT: 18/588) Row 17249313 (NC_000022.10:41608400:T: 9/588)	-	Jul 13, 2019 (153)
69	8.3KJPN Submission ignored due to conflicting rows: Row 90774093 (NC_000022.10:41608400:T: 2255/16674) Row 90774094 (NC_000022.10:41608400:TT: 691/16674) Row 90774095 (NC_000022.10:41608400::T 19/16674)...	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 90774093 (NC_000022.10:41608400:T: 2255/16674) Row 90774094 (NC_000022.10:41608400:TT: 691/16674) Row 90774095 (NC_000022.10:41608400::T 19/16674)...	-	Apr 26, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 90774093 (NC_000022.10:41608400:T: 2255/16674) Row 90774094 (NC_000022.10:41608400:TT: 691/16674) Row 90774095 (NC_000022.10:41608400::T 19/16674)...	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 90774093 (NC_000022.10:41608400:T: 2255/16674) Row 90774094 (NC_000022.10:41608400:TT: 691/16674) Row 90774095 (NC_000022.10:41608400::T 19/16674)...	-	Apr 26, 2021 (155)
73	14KJPN Submission ignored due to conflicting rows: Row 127822353 (NC_000022.11:41212396:T: 4198/28236) Row 127822354 (NC_000022.11:41212396:TT: 1251/28236) Row 127822355 (NC_000022.11:41212396::T 37/28236)...	-	Oct 16, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 127822353 (NC_000022.11:41212396:T: 4198/28236) Row 127822354 (NC_000022.11:41212396:TT: 1251/28236) Row 127822355 (NC_000022.11:41212396::T 37/28236)...	-	Oct 16, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 127822353 (NC_000022.11:41212396:T: 4198/28236) Row 127822354 (NC_000022.11:41212396:TT: 1251/28236) Row 127822355 (NC_000022.11:41212396::T 37/28236)...	-	Oct 16, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 127822353 (NC_000022.11:41212396:T: 4198/28236) Row 127822354 (NC_000022.11:41212396:TT: 1251/28236) Row 127822355 (NC_000022.11:41212396::T 37/28236)...	-	Oct 16, 2022 (156)
77	UK 10K study - Twins Submission ignored due to conflicting rows: Row 44733241 (NC_000022.10:41608401:T: 1642/3708) Row 44733242 (NC_000022.10:41608400:TTT: 218/3708)	-	Oct 12, 2018 (152)
78	UK 10K study - Twins Submission ignored due to conflicting rows: Row 44733241 (NC_000022.10:41608401:T: 1642/3708) Row 44733242 (NC_000022.10:41608400:TTT: 218/3708)	-	Oct 12, 2018 (152)
79	ALFA	NC_000022.11 - 41212397	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)
rs34816066	May 23, 2006 (127)
rs71839882	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4365250187	NC_000022.11:41212396:TTTTTTT:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4365250186	NC_000022.11:41212396:TTTTT:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3708274727, ss4365250185	NC_000022.11:41212396:TTTT:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss1709603809, ss1709604371, ss5232804789	NC_000022.10:41608400:TTT:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4365250184, ss5311232922, ss5793985252	NC_000022.11:41212396:TTT:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
11983824514	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3708274728	NC_000022.11:41212397:TTT:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
80868614, ss1379070262, ss3019364537, ss3743964447, ss3836009512, ss5232804787	NC_000022.10:41608400:TT:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss1710846038, ss1710846039	NC_000022.10:41608401:TT:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3651186522, ss3822587258, ss4365250183, ss5311232919, ss5503062969, ss5793985250	NC_000022.11:41212396:TT:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
11983824514	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3708274729	NC_000022.11:41212398:TT:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss41502037	NT_011520.12:20998969:TT:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss193648841	NT_011520.13:22502832:TT:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3743964448, ss3788836416, ss3793700073, ss3798586549, ss3841633166, ss5232804786	NC_000022.10:41608400:T:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
	NC_000022.10:41608401:T:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4365250182, ss5311232920, ss5503062970, ss5793985249, ss5853407876	NC_000022.11:41212396:T:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
11983824514	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3708274730	NC_000022.11:41212399:T:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss147908	NT_011520.12:20998986:T:	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5232804788	NC_000022.10:41608400::T	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4365250175, ss5311232921, ss5503062971, ss5793985251	NC_000022.11:41212396::T	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
11983824514	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3708274731	NC_000022.11:41212400::T	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss147908	NT_011520.12:20998986:T:TT	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4365250176	NC_000022.11:41212396::TT	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
11983824514	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4365250177	NC_000022.11:41212396::TTT	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4365250178	NC_000022.11:41212396::TTTT	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
11983824514	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4365250179	NC_000022.11:41212396::TTTTT	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4365250180	NC_000022.11:41212396::TTTTTT	NC_000022.11:41212396:TTTTTTTTTTTT… NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(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 rs10553071

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

rs10553071