Name: rs67852003
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.

rs67852003

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:50101166-50101184 (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)₁₄ / del(T)₁₀ / del(T)₈ / de…
del(T)₁₄ / del(T)₁₀ / del(T)₈ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₅
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.00122 (21/17160, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SMARCD1 : 500B Downstream 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	17160	TTTTTTTTTTTTTTTTTTT=0.99860	TTTTT=0.00000, TTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00017, TTTTTTTTTTTTTTTTTTTT=0.00122, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.997785	0.000233	0.001982	32
European	Sub	14044	TTTTTTTTTTTTTTTTTTT=0.99836	TTTTT=0.00000, TTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00021, TTTTTTTTTTTTTTTTTTTT=0.00142, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.997436	0.000285	0.00228	32
African	Sub	1750	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	52	TTTTTTTTTTTTTTTTTTT=1.00	TTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1698	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	108	TTTTTTTTTTTTTTTTTTT=1.000	TTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	82	TTTTTTTTTTTTTTTTTTT=1.00	TTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	26	TTTTTTTTTTTTTTTTTTT=1.00	TTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	126	TTTTTTTTTTTTTTTTTTT=1.000	TTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	592	TTTTTTTTTTTTTTTTTTT=1.000	TTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	90	TTTTTTTTTTTTTTTTTTT=1.00	TTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	450	TTTTTTTTTTTTTTTTTTT=0.998	TTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.002, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.995556	0.0	0.004444	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	17160	(T)₁₉=0.99860	del(T)₁₄=0.00000, del(T)₁₀=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00017, dupT=0.00122, dupTT=0.00000, dupTTT=0.00000, dup(T)₅=0.00000
Allele Frequency Aggregator	European	Sub	14044	(T)₁₉=0.99836	del(T)₁₄=0.00000, del(T)₁₀=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00021, dupT=0.00142, dupTT=0.00000, dupTTT=0.00000, dup(T)₅=0.00000
Allele Frequency Aggregator	African	Sub	1750	(T)₁₉=1.0000	del(T)₁₄=0.0000, del(T)₁₀=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	592	(T)₁₉=1.000	del(T)₁₄=0.000, del(T)₁₀=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Other	Sub	450	(T)₁₉=0.998	del(T)₁₄=0.000, del(T)₁₀=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.002, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	126	(T)₁₉=1.000	del(T)₁₄=0.000, del(T)₁₀=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Asian	Sub	108	(T)₁₉=1.000	del(T)₁₄=0.000, del(T)₁₀=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	South Asian	Sub	90	(T)₁₉=1.00	del(T)₁₄=0.00, del(T)₁₀=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 12	NC_000012.12:g.50101171_50101184del
GRCh38.p14 chr 12	NC_000012.12:g.50101175_50101184del
GRCh38.p14 chr 12	NC_000012.12:g.50101177_50101184del
GRCh38.p14 chr 12	NC_000012.12:g.50101178_50101184del
GRCh38.p14 chr 12	NC_000012.12:g.50101179_50101184del
GRCh38.p14 chr 12	NC_000012.12:g.50101180_50101184del
GRCh38.p14 chr 12	NC_000012.12:g.50101181_50101184del
GRCh38.p14 chr 12	NC_000012.12:g.50101182_50101184del
GRCh38.p14 chr 12	NC_000012.12:g.50101183_50101184del
GRCh38.p14 chr 12	NC_000012.12:g.50101184del
GRCh38.p14 chr 12	NC_000012.12:g.50101184dup
GRCh38.p14 chr 12	NC_000012.12:g.50101183_50101184dup
GRCh38.p14 chr 12	NC_000012.12:g.50101182_50101184dup
GRCh38.p14 chr 12	NC_000012.12:g.50101180_50101184dup
GRCh37.p13 chr 12	NC_000012.11:g.50494954_50494967del
GRCh37.p13 chr 12	NC_000012.11:g.50494958_50494967del
GRCh37.p13 chr 12	NC_000012.11:g.50494960_50494967del
GRCh37.p13 chr 12	NC_000012.11:g.50494961_50494967del
GRCh37.p13 chr 12	NC_000012.11:g.50494962_50494967del
GRCh37.p13 chr 12	NC_000012.11:g.50494963_50494967del
GRCh37.p13 chr 12	NC_000012.11:g.50494964_50494967del
GRCh37.p13 chr 12	NC_000012.11:g.50494965_50494967del
GRCh37.p13 chr 12	NC_000012.11:g.50494966_50494967del
GRCh37.p13 chr 12	NC_000012.11:g.50494967del
GRCh37.p13 chr 12	NC_000012.11:g.50494967dup
GRCh37.p13 chr 12	NC_000012.11:g.50494966_50494967dup
GRCh37.p13 chr 12	NC_000012.11:g.50494965_50494967dup
GRCh37.p13 chr 12	NC_000012.11:g.50494963_50494967dup
GPD1 RefSeqGene	NG_032168.1:g.2353_2366del
GPD1 RefSeqGene	NG_032168.1:g.2357_2366del
GPD1 RefSeqGene	NG_032168.1:g.2359_2366del
GPD1 RefSeqGene	NG_032168.1:g.2360_2366del
GPD1 RefSeqGene	NG_032168.1:g.2361_2366del
GPD1 RefSeqGene	NG_032168.1:g.2362_2366del
GPD1 RefSeqGene	NG_032168.1:g.2363_2366del
GPD1 RefSeqGene	NG_032168.1:g.2364_2366del
GPD1 RefSeqGene	NG_032168.1:g.2365_2366del
GPD1 RefSeqGene	NG_032168.1:g.2366del
GPD1 RefSeqGene	NG_032168.1:g.2366dup
GPD1 RefSeqGene	NG_032168.1:g.2365_2366dup
GPD1 RefSeqGene	NG_032168.1:g.2364_2366dup
GPD1 RefSeqGene	NG_032168.1:g.2362_2366dup

Gene: SMARCD1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (plus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
SMARCD1 transcript variant 1	NM_003076.5:c.	N/A	Downstream Transcript Variant
SMARCD1 transcript variant 2	NM_139071.3:c.	N/A	Downstream Transcript Variant
SMARCD1 transcript variant X3	XM_005269107.5:c.	N/A	Downstream Transcript Variant
SMARCD1 transcript variant X7	XM_047429450.1:c.	N/A	Downstream Transcript Variant
SMARCD1 transcript variant X9	XM_011538695.3:c.	N/A	N/A
SMARCD1 transcript variant X4	XR_007063118.1:n.	N/A	N/A
SMARCD1 transcript variant X5	XR_007063119.1:n.	N/A	N/A
SMARCD1 transcript variant X6	XR_007063120.1:n.	N/A	N/A
SMARCD1 transcript variant X8	XR_007063121.1:n.	N/A	N/A
SMARCD1 transcript variant X1	XR_944683.3:n.	N/A	N/A
SMARCD1 transcript variant X2	XR_944684.3:n.	N/A	N/A

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)₁₄	del(T)₁₀	del(T)₈	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₅
GRCh38.p14 chr 12	NC_000012.12:g.50101166_50101184=	NC_000012.12:g.50101171_50101184del	NC_000012.12:g.50101175_50101184del	NC_000012.12:g.50101177_50101184del	NC_000012.12:g.50101178_50101184del	NC_000012.12:g.50101179_50101184del	NC_000012.12:g.50101180_50101184del	NC_000012.12:g.50101181_50101184del	NC_000012.12:g.50101182_50101184del	NC_000012.12:g.50101183_50101184del	NC_000012.12:g.50101184del	NC_000012.12:g.50101184dup	NC_000012.12:g.50101183_50101184dup	NC_000012.12:g.50101182_50101184dup	NC_000012.12:g.50101180_50101184dup
GRCh37.p13 chr 12	NC_000012.11:g.50494949_50494967=	NC_000012.11:g.50494954_50494967del	NC_000012.11:g.50494958_50494967del	NC_000012.11:g.50494960_50494967del	NC_000012.11:g.50494961_50494967del	NC_000012.11:g.50494962_50494967del	NC_000012.11:g.50494963_50494967del	NC_000012.11:g.50494964_50494967del	NC_000012.11:g.50494965_50494967del	NC_000012.11:g.50494966_50494967del	NC_000012.11:g.50494967del	NC_000012.11:g.50494967dup	NC_000012.11:g.50494966_50494967dup	NC_000012.11:g.50494965_50494967dup	NC_000012.11:g.50494963_50494967dup
GPD1 RefSeqGene	NG_032168.1:g.2348_2366=	NG_032168.1:g.2353_2366del	NG_032168.1:g.2357_2366del	NG_032168.1:g.2359_2366del	NG_032168.1:g.2360_2366del	NG_032168.1:g.2361_2366del	NG_032168.1:g.2362_2366del	NG_032168.1:g.2363_2366del	NG_032168.1:g.2364_2366del	NG_032168.1:g.2365_2366del	NG_032168.1:g.2366del	NG_032168.1:g.2366dup	NG_032168.1:g.2365_2366dup	NG_032168.1:g.2364_2366dup	NG_032168.1:g.2362_2366dup

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#.

32 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss103531908	Dec 06, 2013 (138)
2	PJP	ss294751152	May 09, 2011 (135)
3	SWEGEN	ss3009670746	Nov 08, 2017 (151)
4	EVA	ss3833117539	Apr 27, 2020 (154)
5	GNOMAD	ss4251615855	Apr 26, 2021 (155)
6	GNOMAD	ss4251615856	Apr 26, 2021 (155)
7	GNOMAD	ss4251615857	Apr 26, 2021 (155)
8	GNOMAD	ss4251615858	Apr 26, 2021 (155)
9	GNOMAD	ss4251615860	Apr 26, 2021 (155)
10	GNOMAD	ss4251615861	Apr 26, 2021 (155)
11	GNOMAD	ss4251615862	Apr 26, 2021 (155)
12	GNOMAD	ss4251615863	Apr 26, 2021 (155)
13	GNOMAD	ss4251615864	Apr 26, 2021 (155)
14	GNOMAD	ss4251615865	Apr 26, 2021 (155)
15	GNOMAD	ss4251615866	Apr 26, 2021 (155)
16	GNOMAD	ss4251615867	Apr 26, 2021 (155)
17	TOPMED	ss4917930207	Apr 26, 2021 (155)
18	TOPMED	ss4917930208	Apr 26, 2021 (155)
19	TOPMED	ss4917930209	Apr 26, 2021 (155)
20	TOPMED	ss4917930210	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5206269392	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5206269393	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5206269394	Apr 26, 2021 (155)
24	1000G_HIGH_COVERAGE	ss5290771866	Oct 16, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5290771867	Oct 16, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5290771868	Oct 16, 2022 (156)
27	HUGCELL_USP	ss5485529215	Oct 16, 2022 (156)
28	HUGCELL_USP	ss5485529216	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5485529217	Oct 16, 2022 (156)
30	TOMMO_GENOMICS	ss5756042637	Oct 16, 2022 (156)
31	TOMMO_GENOMICS	ss5756042638	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5756042639	Oct 16, 2022 (156)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407027651 (NC_000012.12:50101165::T 8364/121272) Row 407027652 (NC_000012.12:50101165::TT 57/121268) Row 407027653 (NC_000012.12:50101165::TTT 3/121274)...	-	Apr 26, 2021 (155)
46	8.3KJPN Submission ignored due to conflicting rows: Row 64238699 (NC_000012.11:50494948::T 149/16744) Row 64238700 (NC_000012.11:50494948:T: 15/16744) Row 64238701 (NC_000012.11:50494948::TT 4/16744)	-	Apr 26, 2021 (155)
47	8.3KJPN Submission ignored due to conflicting rows: Row 64238699 (NC_000012.11:50494948::T 149/16744) Row 64238700 (NC_000012.11:50494948:T: 15/16744) Row 64238701 (NC_000012.11:50494948::TT 4/16744)	-	Apr 26, 2021 (155)
48	8.3KJPN Submission ignored due to conflicting rows: Row 64238699 (NC_000012.11:50494948::T 149/16744) Row 64238700 (NC_000012.11:50494948:T: 15/16744) Row 64238701 (NC_000012.11:50494948::TT 4/16744)	-	Apr 26, 2021 (155)
49	14KJPN Submission ignored due to conflicting rows: Row 89879741 (NC_000012.12:50101165::T 227/28238) Row 89879742 (NC_000012.12:50101165:T: 17/28238) Row 89879743 (NC_000012.12:50101165::TT 4/28238)	-	Oct 16, 2022 (156)
50	14KJPN Submission ignored due to conflicting rows: Row 89879741 (NC_000012.12:50101165::T 227/28238) Row 89879742 (NC_000012.12:50101165:T: 17/28238) Row 89879743 (NC_000012.12:50101165::TT 4/28238)	-	Oct 16, 2022 (156)
51	14KJPN Submission ignored due to conflicting rows: Row 89879741 (NC_000012.12:50101165::T 227/28238) Row 89879742 (NC_000012.12:50101165:T: 17/28238) Row 89879743 (NC_000012.12:50101165::TT 4/28238)	-	Oct 16, 2022 (156)
52	TopMed Submission ignored due to conflicting rows: Row 133475864 (NC_000012.12:50101165:TTTTTT: 1/264690) Row 133475865 (NC_000012.12:50101165:TTTTTTTT: 2/264690) Row 133475866 (NC_000012.12:50101165:TTTTTTTTTT: 7/264690)...	-	Apr 26, 2021 (155)
53	TopMed Submission ignored due to conflicting rows: Row 133475864 (NC_000012.12:50101165:TTTTTT: 1/264690) Row 133475865 (NC_000012.12:50101165:TTTTTTTT: 2/264690) Row 133475866 (NC_000012.12:50101165:TTTTTTTTTT: 7/264690)...	-	Apr 26, 2021 (155)
54	TopMed Submission ignored due to conflicting rows: Row 133475864 (NC_000012.12:50101165:TTTTTT: 1/264690) Row 133475865 (NC_000012.12:50101165:TTTTTTTT: 2/264690) Row 133475866 (NC_000012.12:50101165:TTTTTTTTTT: 7/264690)...	-	Apr 26, 2021 (155)
55	TopMed Submission ignored due to conflicting rows: Row 133475864 (NC_000012.12:50101165:TTTTTT: 1/264690) Row 133475865 (NC_000012.12:50101165:TTTTTTTT: 2/264690) Row 133475866 (NC_000012.12:50101165:TTTTTTTTTT: 7/264690)...	-	Apr 26, 2021 (155)
56	ALFA	NC_000012.12 - 50101166	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)
rs67852004	Feb 27, 2009 (130)
rs74642110	May 11, 2012 (137)
rs142831887	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4251615867, ss4917930210	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTT:	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTT	(self)
ss4251615866, ss4917930209	NC_000012.12:50101165:TTTTTTTTTT:	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4251615865, ss4917930208	NC_000012.12:50101165:TTTTTTTT:	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4251615864	NC_000012.12:50101165:TTTTTTT:	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4917930207	NC_000012.12:50101165:TTTTTT:	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4251615863	NC_000012.12:50101165:TTTTT:	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4251615862	NC_000012.12:50101165:TTTT:	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4251615861	NC_000012.12:50101165:TTT:	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4251615860, ss5485529217	NC_000012.12:50101165:TT:	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3009670746, ss5206269393	NC_000012.11:50494948:T:	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5290771867, ss5485529216, ss5756042638	NC_000012.12:50101165:T:	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss103531908	NT_029419.12:12638272:T:	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss294751152	NC_000012.10:48781216::T	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3833117539, ss5206269392	NC_000012.11:50494948::T	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4251615855, ss5290771866, ss5485529215, ss5756042637	NC_000012.12:50101165::T	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss103531908	NT_029419.12:12638272:T:TT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss5206269394	NC_000012.11:50494948::TT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4251615856, ss5290771868, ss5756042639	NC_000012.12:50101165::TT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4251615857	NC_000012.12:50101165::TTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251615858	NC_000012.12:50101165::TTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
7610529922	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50101165:TTTTTTTTTTTT… NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT: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 rs67852003

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

rs67852003