Name: rs397873833
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.

rs397873833

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:26421558-26421577 (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)₁₁ / del(T)₉ / del(T)₇ / del…
del(T)₁₁ / del(T)₉ / del(T)₇ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.07230 (945/13070, ALFA)
(T)₂₀=0.2193 (845/3854, ALSPAC)
(T)₂₀=0.2244 (832/3708, TWINSUK) (+ 1 more)
dupT=0.33 (13/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: DRC1 : 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	13070	TTTTTTTTTTTTTTTTTTTT=0.92471	TTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00054, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.07230, TTTTTTTTTTTTTTTTTTTTTTT=0.00069, TTTTTTTTTTTTTTTTTTTTTT=0.00176	0.885385	0.029077	0.085538	32
European	Sub	10284	TTTTTTTTTTTTTTTTTTTT=0.90451	TTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00068, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.09170, TTTTTTTTTTTTTTTTTTTTTTT=0.00088, TTTTTTTTTTTTTTTTTTTTTT=0.00224	0.854513	0.037008	0.108479	32
African	Sub	2008	TTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	82	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1926	TTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	64	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	46	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	62	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	296	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	46	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	310	TTTTTTTTTTTTTTTTTTTT=0.994	TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.006, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	0.987097	0.0	0.012903	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	13070	(T)₂₀=0.92471	del(T)₁₁=0.00000, del(T)₉=0.00000, del(T)₇=0.00000, delTT=0.00054, delT=0.00000, dupT=0.07230, dupTT=0.00176, dupTTT=0.00069
Allele Frequency Aggregator	European	Sub	10284	(T)₂₀=0.90451	del(T)₁₁=0.00000, del(T)₉=0.00000, del(T)₇=0.00000, delTT=0.00068, delT=0.00000, dupT=0.09170, dupTT=0.00224, dupTTT=0.00088
Allele Frequency Aggregator	African	Sub	2008	(T)₂₀=1.0000	del(T)₁₁=0.0000, del(T)₉=0.0000, del(T)₇=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	Other	Sub	310	(T)₂₀=0.994	del(T)₁₁=0.000, del(T)₉=0.000, del(T)₇=0.000, delTT=0.000, delT=0.000, dupT=0.006, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	296	(T)₂₀=1.000	del(T)₁₁=0.000, del(T)₉=0.000, del(T)₇=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Asian	Sub	64	(T)₂₀=1.00	del(T)₁₁=0.00, del(T)₉=0.00, del(T)₇=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	62	(T)₂₀=1.00	del(T)₁₁=0.00, del(T)₉=0.00, del(T)₇=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	46	(T)₂₀=1.00	del(T)₁₁=0.00, del(T)₉=0.00, del(T)₇=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupT=0.7807
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupT=0.7756
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.33

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 2	NC_000002.12:g.26421567_26421577del
GRCh38.p14 chr 2	NC_000002.12:g.26421569_26421577del
GRCh38.p14 chr 2	NC_000002.12:g.26421571_26421577del
GRCh38.p14 chr 2	NC_000002.12:g.26421573_26421577del
GRCh38.p14 chr 2	NC_000002.12:g.26421574_26421577del
GRCh38.p14 chr 2	NC_000002.12:g.26421575_26421577del
GRCh38.p14 chr 2	NC_000002.12:g.26421576_26421577del
GRCh38.p14 chr 2	NC_000002.12:g.26421577del
GRCh38.p14 chr 2	NC_000002.12:g.26421577dup
GRCh38.p14 chr 2	NC_000002.12:g.26421576_26421577dup
GRCh38.p14 chr 2	NC_000002.12:g.26421575_26421577dup
GRCh38.p14 chr 2	NC_000002.12:g.26421574_26421577dup
GRCh37.p13 chr 2	NC_000002.11:g.26644435_26644445del
GRCh37.p13 chr 2	NC_000002.11:g.26644437_26644445del
GRCh37.p13 chr 2	NC_000002.11:g.26644439_26644445del
GRCh37.p13 chr 2	NC_000002.11:g.26644441_26644445del
GRCh37.p13 chr 2	NC_000002.11:g.26644442_26644445del
GRCh37.p13 chr 2	NC_000002.11:g.26644443_26644445del
GRCh37.p13 chr 2	NC_000002.11:g.26644444_26644445del
GRCh37.p13 chr 2	NC_000002.11:g.26644445del
GRCh37.p13 chr 2	NC_000002.11:g.26644445dup
GRCh37.p13 chr 2	NC_000002.11:g.26644444_26644445dup
GRCh37.p13 chr 2	NC_000002.11:g.26644443_26644445dup
GRCh37.p13 chr 2	NC_000002.11:g.26644442_26644445dup
DRC1 RefSeqGene	NG_042824.1:g.24656_24666del
DRC1 RefSeqGene	NG_042824.1:g.24658_24666del
DRC1 RefSeqGene	NG_042824.1:g.24660_24666del
DRC1 RefSeqGene	NG_042824.1:g.24662_24666del
DRC1 RefSeqGene	NG_042824.1:g.24663_24666del
DRC1 RefSeqGene	NG_042824.1:g.24664_24666del
DRC1 RefSeqGene	NG_042824.1:g.24665_24666del
DRC1 RefSeqGene	NG_042824.1:g.24666del
DRC1 RefSeqGene	NG_042824.1:g.24666dup
DRC1 RefSeqGene	NG_042824.1:g.24665_24666dup
DRC1 RefSeqGene	NG_042824.1:g.24664_24666dup
DRC1 RefSeqGene	NG_042824.1:g.24663_24666dup

Gene: DRC1, dynein regulatory complex subunit 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DRC1 transcript	NM_145038.5:c.356+167_356… NM_145038.5:c.356+167_356+177del	N/A	Intron Variant
DRC1 transcript variant X1	XM_047446339.1:c.	N/A	Genic Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: delT (allele ID: 1183163 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001556821.2	not provided	Likely-Benign

Allele: dupT (allele ID: 1234697 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001649279.2	not provided	Benign

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)₂₀=	del(T)₁₁	del(T)₉	del(T)₇	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄
GRCh38.p14 chr 2	NC_000002.12:g.26421558_26421577=	NC_000002.12:g.26421567_26421577del	NC_000002.12:g.26421569_26421577del	NC_000002.12:g.26421571_26421577del	NC_000002.12:g.26421573_26421577del	NC_000002.12:g.26421574_26421577del	NC_000002.12:g.26421575_26421577del	NC_000002.12:g.26421576_26421577del	NC_000002.12:g.26421577del	NC_000002.12:g.26421577dup	NC_000002.12:g.26421576_26421577dup	NC_000002.12:g.26421575_26421577dup	NC_000002.12:g.26421574_26421577dup
GRCh37.p13 chr 2	NC_000002.11:g.26644426_26644445=	NC_000002.11:g.26644435_26644445del	NC_000002.11:g.26644437_26644445del	NC_000002.11:g.26644439_26644445del	NC_000002.11:g.26644441_26644445del	NC_000002.11:g.26644442_26644445del	NC_000002.11:g.26644443_26644445del	NC_000002.11:g.26644444_26644445del	NC_000002.11:g.26644445del	NC_000002.11:g.26644445dup	NC_000002.11:g.26644444_26644445dup	NC_000002.11:g.26644443_26644445dup	NC_000002.11:g.26644442_26644445dup
DRC1 RefSeqGene	NG_042824.1:g.24647_24666=	NG_042824.1:g.24656_24666del	NG_042824.1:g.24658_24666del	NG_042824.1:g.24660_24666del	NG_042824.1:g.24662_24666del	NG_042824.1:g.24663_24666del	NG_042824.1:g.24664_24666del	NG_042824.1:g.24665_24666del	NG_042824.1:g.24666del	NG_042824.1:g.24666dup	NG_042824.1:g.24665_24666dup	NG_042824.1:g.24664_24666dup	NG_042824.1:g.24663_24666dup
DRC1 transcript	NM_145038.2:c.356+158=	NM_145038.2:c.356+167_356+177del	NM_145038.2:c.356+169_356+177del	NM_145038.2:c.356+171_356+177del	NM_145038.2:c.356+173_356+177del	NM_145038.2:c.356+174_356+177del	NM_145038.2:c.356+175_356+177del	NM_145038.2:c.356+176_356+177del	NM_145038.2:c.356+177del	NM_145038.2:c.356+177dup	NM_145038.2:c.356+176_356+177dup	NM_145038.2:c.356+175_356+177dup	NM_145038.2:c.356+174_356+177dup
DRC1 transcript	NM_145038.5:c.356+158=	NM_145038.5:c.356+167_356+177del	NM_145038.5:c.356+169_356+177del	NM_145038.5:c.356+171_356+177del	NM_145038.5:c.356+173_356+177del	NM_145038.5:c.356+174_356+177del	NM_145038.5:c.356+175_356+177del	NM_145038.5:c.356+176_356+177del	NM_145038.5:c.356+177del	NM_145038.5:c.356+177dup	NM_145038.5:c.356+176_356+177dup	NM_145038.5:c.356+175_356+177dup	NM_145038.5:c.356+174_356+177dup
DRC1 transcript variant X1	XM_005264637.1:c.-79+158=	XM_005264637.1:c.-79+167_-79+177del	XM_005264637.1:c.-79+169_-79+177del	XM_005264637.1:c.-79+171_-79+177del	XM_005264637.1:c.-79+173_-79+177del	XM_005264637.1:c.-79+174_-79+177del	XM_005264637.1:c.-79+175_-79+177del	XM_005264637.1:c.-79+176_-79+177del	XM_005264637.1:c.-79+177del	XM_005264637.1:c.-79+177dup	XM_005264637.1:c.-79+176_-79+177dup	XM_005264637.1:c.-79+175_-79+177dup	XM_005264637.1:c.-79+174_-79+177dup
DRC1 transcript variant X2	XM_005264638.1:c.-341+158=	XM_005264638.1:c.-341+167_-341+177del	XM_005264638.1:c.-341+169_-341+177del	XM_005264638.1:c.-341+171_-341+177del	XM_005264638.1:c.-341+173_-341+177del	XM_005264638.1:c.-341+174_-341+177del	XM_005264638.1:c.-341+175_-341+177del	XM_005264638.1:c.-341+176_-341+177del	XM_005264638.1:c.-341+177del	XM_005264638.1:c.-341+177dup	XM_005264638.1:c.-341+176_-341+177dup	XM_005264638.1:c.-341+175_-341+177dup	XM_005264638.1:c.-341+174_-341+177dup

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#.

40 SubSNP, 25 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41848335	Dec 03, 2013 (138)
2	EVA_GENOME_DK	ss1575371806	Apr 01, 2015 (144)
3	EVA_UK10K_ALSPAC	ss1702324666	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1702324667	Apr 01, 2015 (144)
5	SWEGEN	ss2989162184	Nov 08, 2017 (151)
6	EVA_DECODE	ss3703476392	Jul 12, 2019 (153)
7	EVA_DECODE	ss3703476394	Jul 12, 2019 (153)
8	EVA_DECODE	ss3703476395	Jul 12, 2019 (153)
9	EVA_DECODE	ss3703476396	Jul 12, 2019 (153)
10	PACBIO	ss3794278629	Jul 12, 2019 (153)
11	EVA	ss3826877432	Apr 25, 2020 (154)
12	GNOMAD	ss4037512270	Apr 26, 2021 (155)
13	GNOMAD	ss4037512271	Apr 26, 2021 (155)
14	GNOMAD	ss4037512272	Apr 26, 2021 (155)
15	GNOMAD	ss4037512274	Apr 26, 2021 (155)
16	GNOMAD	ss4037512275	Apr 26, 2021 (155)
17	GNOMAD	ss4037512276	Apr 26, 2021 (155)
18	GNOMAD	ss4037512277	Apr 26, 2021 (155)
19	GNOMAD	ss4037512278	Apr 26, 2021 (155)
20	TOPMED	ss4498126326	Apr 26, 2021 (155)
21	TOPMED	ss4498126327	Apr 26, 2021 (155)
22	TOPMED	ss4498126328	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5150386896	Apr 26, 2021 (155)
24	TOMMO_GENOMICS	ss5150386897	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5150386898	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5150386899	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5150386900	Apr 26, 2021 (155)
28	1000G_HIGH_COVERAGE	ss5247314598	Oct 17, 2022 (156)
29	HUGCELL_USP	ss5447586066	Oct 17, 2022 (156)
30	HUGCELL_USP	ss5447586067	Oct 17, 2022 (156)
31	HUGCELL_USP	ss5447586068	Oct 17, 2022 (156)
32	HUGCELL_USP	ss5447586069	Oct 17, 2022 (156)
33	TOMMO_GENOMICS	ss5678727995	Oct 17, 2022 (156)
34	TOMMO_GENOMICS	ss5678727996	Oct 17, 2022 (156)
35	TOMMO_GENOMICS	ss5678727997	Oct 17, 2022 (156)
36	TOMMO_GENOMICS	ss5678727998	Oct 17, 2022 (156)
37	TOMMO_GENOMICS	ss5678727999	Oct 17, 2022 (156)
38	TMC_SNPDB2	ss5846892932	Oct 17, 2022 (156)
39	EVA	ss5954521537	Oct 17, 2022 (156)
40	EVA	ss5980044048	Oct 17, 2022 (156)
41	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 26644426	Oct 11, 2018 (152)
42	The Danish reference pan genome	NC_000002.11 - 26644426	Apr 25, 2020 (154)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51766425 (NC_000002.12:26421557::TT 922/110852) Row 51766426 (NC_000002.12:26421557::TTT 69/110872) Row 51766427 (NC_000002.12:26421557::TTTT 13/110900)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51766425 (NC_000002.12:26421557::TT 922/110852) Row 51766426 (NC_000002.12:26421557::TTT 69/110872) Row 51766427 (NC_000002.12:26421557::TTTT 13/110900)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51766425 (NC_000002.12:26421557::TT 922/110852) Row 51766426 (NC_000002.12:26421557::TTT 69/110872) Row 51766427 (NC_000002.12:26421557::TTTT 13/110900)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51766425 (NC_000002.12:26421557::TT 922/110852) Row 51766426 (NC_000002.12:26421557::TTT 69/110872) Row 51766427 (NC_000002.12:26421557::TTTT 13/110900)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51766425 (NC_000002.12:26421557::TT 922/110852) Row 51766426 (NC_000002.12:26421557::TTT 69/110872) Row 51766427 (NC_000002.12:26421557::TTTT 13/110900)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51766425 (NC_000002.12:26421557::TT 922/110852) Row 51766426 (NC_000002.12:26421557::TTT 69/110872) Row 51766427 (NC_000002.12:26421557::TTTT 13/110900)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51766425 (NC_000002.12:26421557::TT 922/110852) Row 51766426 (NC_000002.12:26421557::TTT 69/110872) Row 51766427 (NC_000002.12:26421557::TTTT 13/110900)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51766425 (NC_000002.12:26421557::TT 922/110852) Row 51766426 (NC_000002.12:26421557::TTT 69/110872) Row 51766427 (NC_000002.12:26421557::TTTT 13/110900)...	-	Apr 26, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 8356203 (NC_000002.11:26644425:T: 14/16638) Row 8356204 (NC_000002.11:26644425::T 1685/16638) Row 8356205 (NC_000002.11:26644425:TT: 2/16638)...	-	Apr 26, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 8356203 (NC_000002.11:26644425:T: 14/16638) Row 8356204 (NC_000002.11:26644425::T 1685/16638) Row 8356205 (NC_000002.11:26644425:TT: 2/16638)...	-	Apr 26, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 8356203 (NC_000002.11:26644425:T: 14/16638) Row 8356204 (NC_000002.11:26644425::T 1685/16638) Row 8356205 (NC_000002.11:26644425:TT: 2/16638)...	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 8356203 (NC_000002.11:26644425:T: 14/16638) Row 8356204 (NC_000002.11:26644425::T 1685/16638) Row 8356205 (NC_000002.11:26644425:TT: 2/16638)...	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 8356203 (NC_000002.11:26644425:T: 14/16638) Row 8356204 (NC_000002.11:26644425::T 1685/16638) Row 8356205 (NC_000002.11:26644425:TT: 2/16638)...	-	Apr 26, 2021 (155)
56	14KJPN Submission ignored due to conflicting rows: Row 12565099 (NC_000002.12:26421557::T 3107/28114) Row 12565100 (NC_000002.12:26421557:T: 20/28114) Row 12565101 (NC_000002.12:26421557:TT: 2/28114)...	-	Oct 17, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 12565099 (NC_000002.12:26421557::T 3107/28114) Row 12565100 (NC_000002.12:26421557:T: 20/28114) Row 12565101 (NC_000002.12:26421557:TT: 2/28114)...	-	Oct 17, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 12565099 (NC_000002.12:26421557::T 3107/28114) Row 12565100 (NC_000002.12:26421557:T: 20/28114) Row 12565101 (NC_000002.12:26421557:TT: 2/28114)...	-	Oct 17, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 12565099 (NC_000002.12:26421557::T 3107/28114) Row 12565100 (NC_000002.12:26421557:T: 20/28114) Row 12565101 (NC_000002.12:26421557:TT: 2/28114)...	-	Oct 17, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 12565099 (NC_000002.12:26421557::T 3107/28114) Row 12565100 (NC_000002.12:26421557:T: 20/28114) Row 12565101 (NC_000002.12:26421557:TT: 2/28114)...	-	Oct 17, 2022 (156)
61	TopMed Submission ignored due to conflicting rows: Row 301949205 (NC_000002.12:26421557:TTTTTTT: 14/264690) Row 301949206 (NC_000002.12:26421557:TTTTTTTTT: 3/264690) Row 301949207 (NC_000002.12:26421557:TTTTTTTTTTT: 1/264690)	-	Apr 26, 2021 (155)
62	TopMed Submission ignored due to conflicting rows: Row 301949205 (NC_000002.12:26421557:TTTTTTT: 14/264690) Row 301949206 (NC_000002.12:26421557:TTTTTTTTT: 3/264690) Row 301949207 (NC_000002.12:26421557:TTTTTTTTTTT: 1/264690)	-	Apr 26, 2021 (155)
63	TopMed Submission ignored due to conflicting rows: Row 301949205 (NC_000002.12:26421557:TTTTTTT: 14/264690) Row 301949206 (NC_000002.12:26421557:TTTTTTTTT: 3/264690) Row 301949207 (NC_000002.12:26421557:TTTTTTTTTTT: 1/264690)	-	Apr 26, 2021 (155)
64	UK 10K study - Twins	NC_000002.11 - 26644426	Oct 11, 2018 (152)
65	ALFA	NC_000002.12 - 26421558	Apr 26, 2021 (155)
66	ClinVar	RCV001556821.2	Oct 17, 2022 (156)
67	ClinVar	RCV001649279.2	Oct 17, 2022 (156)

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)
rs34981212	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5150386900	NC_000002.11:26644425:TTTTTTTTTTT:	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4498126328, ss5678727999	NC_000002.12:26421557:TTTTTTTTTTT:	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
10163771848	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4498126327	NC_000002.12:26421557:TTTTTTTTT:	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
10163771848	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4037512278, ss4498126326	NC_000002.12:26421557:TTTTTTT:	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
10163771848	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4037512277	NC_000002.12:26421557:TTTTT:	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4037512276	NC_000002.12:26421557:TTTT:	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5846892932	NC_000002.12:26421557:TTT:	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
ss5150386898	NC_000002.11:26644425:TT:	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3703476392, ss4037512275, ss5447586068, ss5678727997	NC_000002.12:26421557:TT:	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
10163771848	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss2989162184, ss5150386896, ss5980044048	NC_000002.11:26644425:T:	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4037512274, ss5447586069, ss5678727996	NC_000002.12:26421557:T:	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
RCV001556821.2, 10163771848	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3703476394	NC_000002.12:26421558:T:	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
4044990, 655275, 4044990, ss1575371806, ss1702324666, ss1702324667, ss3794278629, ss3826877432, ss5150386897, ss5954521537	NC_000002.11:26644425::T	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5247314598, ss5447586066, ss5678727995	NC_000002.12:26421557::T	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
RCV001649279.2, 10163771848	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3703476395	NC_000002.12:26421559::T	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss41848335	NT_022184.15:5466332::T	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5150386899	NC_000002.11:26644425::TT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4037512270, ss5447586067, ss5678727998	NC_000002.12:26421557::TT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
10163771848	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3703476396	NC_000002.12:26421559::TT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4037512271	NC_000002.12:26421557::TTT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
10163771848	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4037512272	NC_000002.12:26421557::TTTT	NC_000002.12:26421557:TTTTTTTTTTTT… NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT: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 rs397873833

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

rs397873833