Name: rs34126564
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.

rs34126564

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:51599746-51599761 (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)₅ / del(A)₄ / delAAA / delAA…
del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.4497 (2252/5008, 1000G)
delAA=0.0719 (277/3854, ALSPAC)
delAAA=0.000 (0/256, ALFA) (+ 5 more)
delAA=0.000 (0/256, ALFA)
delA=0.000 (0/256, ALFA)
dupA=0.000 (0/256, ALFA)
dupAA=0.000 (0/256, ALFA)
dupAAA=0.000 (0/256, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RAD54L2 : 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	256	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	220	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	16	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	16	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	2	AAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	8	AAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	2	AAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	8	AAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	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
1000Genomes	Global	Study-wide	5008	(A)₁₆=0.5503	delA=0.4497
1000Genomes	African	Sub	1322	(A)₁₆=0.5250	delA=0.4750
1000Genomes	East Asian	Sub	1008	(A)₁₆=0.6339	delA=0.3661
1000Genomes	Europe	Sub	1006	(A)₁₆=0.4851	delA=0.5149
1000Genomes	South Asian	Sub	978	(A)₁₆=0.518	delA=0.482
1000Genomes	American	Sub	694	(A)₁₆=0.617	delA=0.383
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₆=0.9281	delAA=0.0719
Allele Frequency Aggregator	Total	Global	256	(A)₁₆=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	European	Sub	220	(A)₁₆=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	16	(A)₁₆=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 2	Sub	8	(A)₁₆=1.0	delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Other	Sub	8	(A)₁₆=1.0	delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(A)₁₆=1.0	delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(A)₁₆=1.0	delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₆=0	delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0

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 3	NC_000003.12:g.51599757_51599761del
GRCh38.p14 chr 3	NC_000003.12:g.51599758_51599761del
GRCh38.p14 chr 3	NC_000003.12:g.51599759_51599761del
GRCh38.p14 chr 3	NC_000003.12:g.51599760_51599761del
GRCh38.p14 chr 3	NC_000003.12:g.51599761del
GRCh38.p14 chr 3	NC_000003.12:g.51599761dup
GRCh38.p14 chr 3	NC_000003.12:g.51599760_51599761dup
GRCh38.p14 chr 3	NC_000003.12:g.51599759_51599761dup
GRCh37.p13 chr 3	NC_000003.11:g.51633773_51633777del
GRCh37.p13 chr 3	NC_000003.11:g.51633774_51633777del
GRCh37.p13 chr 3	NC_000003.11:g.51633775_51633777del
GRCh37.p13 chr 3	NC_000003.11:g.51633776_51633777del
GRCh37.p13 chr 3	NC_000003.11:g.51633777del
GRCh37.p13 chr 3	NC_000003.11:g.51633777dup
GRCh37.p13 chr 3	NC_000003.11:g.51633776_51633777dup
GRCh37.p13 chr 3	NC_000003.11:g.51633775_51633777dup

Gene: RAD54L2, RAD54 like 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RAD54L2 transcript variant 1	NM_001322253.2:c.139+9198… NM_001322253.2:c.139+9198_139+9202del	N/A	Intron Variant
RAD54L2 transcript variant 3	NM_001322256.2:c.139+9198… NM_001322256.2:c.139+9198_139+9202del	N/A	Intron Variant
RAD54L2 transcript variant 5	NM_001387866.1:c.139+9198… NM_001387866.1:c.139+9198_139+9202del	N/A	Intron Variant
RAD54L2 transcript variant 6	NM_001387867.1:c.139+9198… NM_001387867.1:c.139+9198_139+9202del	N/A	Intron Variant
RAD54L2 transcript variant 7	NM_001387869.1:c.-17-2779… NM_001387869.1:c.-17-27796_-17-27792del	N/A	Intron Variant
RAD54L2 transcript variant 2	NM_015106.4:c.139+9198_13… NM_015106.4:c.139+9198_139+9202del	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)₁₆=	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 3	NC_000003.12:g.51599746_51599761=	NC_000003.12:g.51599757_51599761del	NC_000003.12:g.51599758_51599761del	NC_000003.12:g.51599759_51599761del	NC_000003.12:g.51599760_51599761del	NC_000003.12:g.51599761del	NC_000003.12:g.51599761dup	NC_000003.12:g.51599760_51599761dup	NC_000003.12:g.51599759_51599761dup
GRCh37.p13 chr 3	NC_000003.11:g.51633762_51633777=	NC_000003.11:g.51633773_51633777del	NC_000003.11:g.51633774_51633777del	NC_000003.11:g.51633775_51633777del	NC_000003.11:g.51633776_51633777del	NC_000003.11:g.51633777del	NC_000003.11:g.51633777dup	NC_000003.11:g.51633776_51633777dup	NC_000003.11:g.51633775_51633777dup
RAD54L2 transcript variant 1	NM_001322253.2:c.139+9187=	NM_001322253.2:c.139+9198_139+9202del	NM_001322253.2:c.139+9199_139+9202del	NM_001322253.2:c.139+9200_139+9202del	NM_001322253.2:c.139+9201_139+9202del	NM_001322253.2:c.139+9202del	NM_001322253.2:c.139+9202dup	NM_001322253.2:c.139+9201_139+9202dup	NM_001322253.2:c.139+9200_139+9202dup
RAD54L2 transcript variant 3	NM_001322256.2:c.139+9187=	NM_001322256.2:c.139+9198_139+9202del	NM_001322256.2:c.139+9199_139+9202del	NM_001322256.2:c.139+9200_139+9202del	NM_001322256.2:c.139+9201_139+9202del	NM_001322256.2:c.139+9202del	NM_001322256.2:c.139+9202dup	NM_001322256.2:c.139+9201_139+9202dup	NM_001322256.2:c.139+9200_139+9202dup
RAD54L2 transcript variant 5	NM_001387866.1:c.139+9187=	NM_001387866.1:c.139+9198_139+9202del	NM_001387866.1:c.139+9199_139+9202del	NM_001387866.1:c.139+9200_139+9202del	NM_001387866.1:c.139+9201_139+9202del	NM_001387866.1:c.139+9202del	NM_001387866.1:c.139+9202dup	NM_001387866.1:c.139+9201_139+9202dup	NM_001387866.1:c.139+9200_139+9202dup
RAD54L2 transcript variant 6	NM_001387867.1:c.139+9187=	NM_001387867.1:c.139+9198_139+9202del	NM_001387867.1:c.139+9199_139+9202del	NM_001387867.1:c.139+9200_139+9202del	NM_001387867.1:c.139+9201_139+9202del	NM_001387867.1:c.139+9202del	NM_001387867.1:c.139+9202dup	NM_001387867.1:c.139+9201_139+9202dup	NM_001387867.1:c.139+9200_139+9202dup
RAD54L2 transcript variant 7	NM_001387869.1:c.-17-27807=	NM_001387869.1:c.-17-27796_-17-27792del	NM_001387869.1:c.-17-27795_-17-27792del	NM_001387869.1:c.-17-27794_-17-27792del	NM_001387869.1:c.-17-27793_-17-27792del	NM_001387869.1:c.-17-27792del	NM_001387869.1:c.-17-27792dup	NM_001387869.1:c.-17-27793_-17-27792dup	NM_001387869.1:c.-17-27794_-17-27792dup
RAD54L2 transcript	NM_015106.2:c.139+9187=	NM_015106.2:c.139+9198_139+9202del	NM_015106.2:c.139+9199_139+9202del	NM_015106.2:c.139+9200_139+9202del	NM_015106.2:c.139+9201_139+9202del	NM_015106.2:c.139+9202del	NM_015106.2:c.139+9202dup	NM_015106.2:c.139+9201_139+9202dup	NM_015106.2:c.139+9200_139+9202dup
RAD54L2 transcript variant 2	NM_015106.4:c.139+9187=	NM_015106.4:c.139+9198_139+9202del	NM_015106.4:c.139+9199_139+9202del	NM_015106.4:c.139+9200_139+9202del	NM_015106.4:c.139+9201_139+9202del	NM_015106.4:c.139+9202del	NM_015106.4:c.139+9202dup	NM_015106.4:c.139+9201_139+9202dup	NM_015106.4:c.139+9200_139+9202dup

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#.

55 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41947404	Mar 13, 2006 (126)
2	HGSV	ss77919941	Dec 06, 2007 (129)
3	HGSV	ss80975527	Dec 16, 2007 (130)
4	HGSV	ss81073651	Dec 16, 2007 (130)
5	HGSV	ss81763179	Dec 16, 2007 (130)
6	HUMANGENOME_JCVI	ss99166453	Feb 06, 2009 (130)
7	BCMHGSC_JDW	ss103668098	Mar 15, 2016 (147)
8	BUSHMAN	ss193670935	Jul 04, 2010 (132)
9	BL	ss256000628	May 09, 2011 (137)
10	GMI	ss288353752	May 04, 2012 (137)
11	GMI	ss288353754	May 04, 2012 (137)
12	PJP	ss295100011	May 09, 2011 (134)
13	PJP	ss295100012	May 09, 2011 (134)
14	BILGI_BIOE	ss666206273	Apr 25, 2013 (138)
15	1000GENOMES	ss1370336724	Aug 21, 2014 (142)
16	EVA_UK10K_ALSPAC	ss1703622435	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1703622662	Apr 01, 2015 (144)
18	EVA_UK10K_TWINSUK	ss1710080169	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1710080257	Apr 01, 2015 (144)
20	SWEGEN	ss2992294093	Nov 08, 2017 (151)
21	BIOINF_KMB_FNS_UNIBA	ss3645711877	Oct 12, 2018 (152)
22	EVA_DECODE	ss3709205444	Jul 13, 2019 (153)
23	EVA_DECODE	ss3709205445	Jul 13, 2019 (153)
24	EVA_DECODE	ss3709205446	Jul 13, 2019 (153)
25	EVA_DECODE	ss3709205447	Jul 13, 2019 (153)
26	EVA_DECODE	ss3709205448	Jul 13, 2019 (153)
27	PACBIO	ss3784310754	Jul 13, 2019 (153)
28	PACBIO	ss3789827081	Jul 13, 2019 (153)
29	PACBIO	ss3794701036	Jul 13, 2019 (153)
30	KHV_HUMAN_GENOMES	ss3803154037	Jul 13, 2019 (153)
31	EVA	ss3827802589	Apr 25, 2020 (154)
32	EVA	ss3842748934	Apr 25, 2020 (154)
33	GNOMAD	ss4070895176	Apr 26, 2021 (155)
34	GNOMAD	ss4070895177	Apr 26, 2021 (155)
35	GNOMAD	ss4070895178	Apr 26, 2021 (155)
36	GNOMAD	ss4070895179	Apr 26, 2021 (155)
37	GNOMAD	ss4070895180	Apr 26, 2021 (155)
38	GNOMAD	ss4070895181	Apr 26, 2021 (155)
39	GNOMAD	ss4070895182	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5159104063	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5159104064	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5159104065	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5159104066	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5254041277	Oct 12, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5254041278	Oct 12, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5254041279	Oct 12, 2022 (156)
47	HUGCELL_USP	ss5453435816	Oct 12, 2022 (156)
48	HUGCELL_USP	ss5453435817	Oct 12, 2022 (156)
49	TOMMO_GENOMICS	ss5690752116	Oct 12, 2022 (156)
50	TOMMO_GENOMICS	ss5690752117	Oct 12, 2022 (156)
51	TOMMO_GENOMICS	ss5690752118	Oct 12, 2022 (156)
52	TOMMO_GENOMICS	ss5690752119	Oct 12, 2022 (156)
53	EVA	ss5825736987	Oct 12, 2022 (156)
54	EVA	ss5825736988	Oct 12, 2022 (156)
55	EVA	ss5868780052	Oct 12, 2022 (156)
56	1000Genomes	NC_000003.11 - 51633762	Oct 12, 2018 (152)
57	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 51633762	Oct 12, 2018 (152)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 107443788 (NC_000003.12:51599745::A 129/119322) Row 107443789 (NC_000003.12:51599745::AA 1/119330) Row 107443790 (NC_000003.12:51599745:A: 93466/119266)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 107443788 (NC_000003.12:51599745::A 129/119322) Row 107443789 (NC_000003.12:51599745::AA 1/119330) Row 107443790 (NC_000003.12:51599745:A: 93466/119266)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 107443788 (NC_000003.12:51599745::A 129/119322) Row 107443789 (NC_000003.12:51599745::AA 1/119330) Row 107443790 (NC_000003.12:51599745:A: 93466/119266)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 107443788 (NC_000003.12:51599745::A 129/119322) Row 107443789 (NC_000003.12:51599745::AA 1/119330) Row 107443790 (NC_000003.12:51599745:A: 93466/119266)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 107443788 (NC_000003.12:51599745::A 129/119322) Row 107443789 (NC_000003.12:51599745::AA 1/119330) Row 107443790 (NC_000003.12:51599745:A: 93466/119266)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 107443788 (NC_000003.12:51599745::A 129/119322) Row 107443789 (NC_000003.12:51599745::AA 1/119330) Row 107443790 (NC_000003.12:51599745:A: 93466/119266)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 107443788 (NC_000003.12:51599745::A 129/119322) Row 107443789 (NC_000003.12:51599745::AA 1/119330) Row 107443790 (NC_000003.12:51599745:A: 93466/119266)...	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 17073370 (NC_000003.11:51633761:AA: 5190/16732) Row 17073371 (NC_000003.11:51633761:A: 9708/16732) Row 17073372 (NC_000003.11:51633761:AAA: 17/16732)...	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 17073370 (NC_000003.11:51633761:AA: 5190/16732) Row 17073371 (NC_000003.11:51633761:A: 9708/16732) Row 17073372 (NC_000003.11:51633761:AAA: 17/16732)...	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 17073370 (NC_000003.11:51633761:AA: 5190/16732) Row 17073371 (NC_000003.11:51633761:A: 9708/16732) Row 17073372 (NC_000003.11:51633761:AAA: 17/16732)...	-	Apr 26, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 17073370 (NC_000003.11:51633761:AA: 5190/16732) Row 17073371 (NC_000003.11:51633761:A: 9708/16732) Row 17073372 (NC_000003.11:51633761:AAA: 17/16732)...	-	Apr 26, 2021 (155)
69	14KJPN Submission ignored due to conflicting rows: Row 24589220 (NC_000003.12:51599745:A: 16643/28250) Row 24589221 (NC_000003.12:51599745:AA: 8639/28250) Row 24589222 (NC_000003.12:51599745::A 8/28250)...	-	Oct 12, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 24589220 (NC_000003.12:51599745:A: 16643/28250) Row 24589221 (NC_000003.12:51599745:AA: 8639/28250) Row 24589222 (NC_000003.12:51599745::A 8/28250)...	-	Oct 12, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 24589220 (NC_000003.12:51599745:A: 16643/28250) Row 24589221 (NC_000003.12:51599745:AA: 8639/28250) Row 24589222 (NC_000003.12:51599745::A 8/28250)...	-	Oct 12, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 24589220 (NC_000003.12:51599745:A: 16643/28250) Row 24589221 (NC_000003.12:51599745:AA: 8639/28250) Row 24589222 (NC_000003.12:51599745::A 8/28250)...	-	Oct 12, 2022 (156)
73	UK 10K study - Twins Submission ignored due to conflicting rows: Row 8416444 (NC_000003.11:51633762:A: 3210/3708) Row 8416445 (NC_000003.11:51633761:AA: 269/3708)	-	Apr 25, 2020 (154)
74	UK 10K study - Twins	-	Oct 12, 2018 (152)
75	ALFA	NC_000003.12 - 51599746	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)
rs61673864	May 27, 2008 (130)
rs74579479	Oct 13, 2011 (136)
rs147418559	May 04, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4070895182	NC_000003.12:51599745:AAAAA:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3709205448, ss4070895181	NC_000003.12:51599745:AAAA:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss5159104065	NC_000003.11:51633761:AAA:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4070895180, ss5690752119	NC_000003.12:51599745:AAA:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
4277764780	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3709205447	NC_000003.12:51599746:AAA:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss103668098	NT_022517.18:51573774:AAA:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss288353754	NC_000003.10:51608801:AA:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
8416445, ss1703622435, ss1703622662, ss2992294093, ss5159104063, ss5825736988	NC_000003.11:51633761:AA:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4070895179, ss5254041278, ss5453435817, ss5690752117	NC_000003.12:51599745:AA:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
4277764780	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3709205446	NC_000003.12:51599747:AA:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss77919941, ss80975527, ss81073651, ss81763179	NC_000003.9:51608816:A:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss256000628, ss288353752, ss295100011	NC_000003.10:51608801:A:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss295100012	NC_000003.10:51608816:A:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
15135074, ss666206273, ss1370336724, ss3784310754, ss3789827081, ss3794701036, ss3827802589, ss5159104064, ss5825736987	NC_000003.11:51633761:A:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss1710080169, ss1710080257	NC_000003.11:51633762:A:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3645711877, ss3803154037, ss3842748934, ss4070895178, ss5254041277, ss5453435816, ss5690752116, ss5868780052	NC_000003.12:51599745:A:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
4277764780	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3709205445	NC_000003.12:51599748:A:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss41947404	NT_022517.18:51573761:A:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss99166453	NT_022517.18:51573776:A:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss193670935	NT_022517.19:51589745:A:	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5159104066	NC_000003.11:51633761::A	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4070895176, ss5254041279, ss5690752118	NC_000003.12:51599745::A	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
4277764780	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3709205444	NC_000003.12:51599749::A	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4070895177	NC_000003.12:51599745::AA	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4277764780	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4277764780	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000003.12:51599745:AAAAAAAAAAAA… NC_000003.12:51599745:AAAAAAAAAAAAAAAA: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 rs34126564

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

rs34126564