Name: rs1049332684
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.

rs1049332684

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:192753702-192753720 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(T)₁₀ / del(T)₉ / del(T)₈ / del…
del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₅ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₆ / dup(T)₈ / dup(T)₁₂
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₇=0.000004 (1/264690, TOPMED)
delT=0.00781 (112/14334, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PCGEM1 : 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	14334	TTTTTTTTTTTTTTTTTTT=0.98298	TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00781, TTTTTTTTTTTTTTTTTTTT=0.00572, TTTTTTTTTTTTTTTTTTTTT=0.00202, TTTTTTTTTTTTTTTTTTTTTTT=0.00056, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00056, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00035, TTTTTTTTTTTTTTTTTTTTTT=0.00000	0.984672	0.000426	0.014902	9
European	Sub	10810	TTTTTTTTTTTTTTTTTTT=0.97743	TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.01036, TTTTTTTTTTTTTTTTTTTT=0.00759, TTTTTTTTTTTTTTTTTTTTT=0.00268, TTTTTTTTTTTTTTTTTTTTTTT=0.00074, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00074, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00046, TTTTTTTTTTTTTTTTTTTTTT=0.00000	0.979561	0.000568	0.019871	6
African	Sub	2324	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	90	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	2234	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	106	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	82	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	118	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	496	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	94	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	386	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=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
TopMed	Global	Study-wide	264690	(T)₁₉=0.999996	del(T)₇=0.000004
Allele Frequency Aggregator	Total	Global	14334	(T)₁₉=0.98298	del(T)₉=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00781, dupT=0.00572, dupTT=0.00202, dupTTT=0.00000, dup(T)₄=0.00056, dup(T)₈=0.00056, dup(T)₁₂=0.00035
Allele Frequency Aggregator	European	Sub	10810	(T)₁₉=0.97743	del(T)₉=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.01036, dupT=0.00759, dupTT=0.00268, dupTTT=0.00000, dup(T)₄=0.00074, dup(T)₈=0.00074, dup(T)₁₂=0.00046
Allele Frequency Aggregator	African	Sub	2324	(T)₁₉=1.0000	del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₈=0.0000, dup(T)₁₂=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	496	(T)₁₉=1.000	del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₈=0.000, dup(T)₁₂=0.000
Allele Frequency Aggregator	Other	Sub	386	(T)₁₉=1.000	del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₈=0.000, dup(T)₁₂=0.000
Allele Frequency Aggregator	Latin American 1	Sub	118	(T)₁₉=1.000	del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₈=0.000, dup(T)₁₂=0.000
Allele Frequency Aggregator	Asian	Sub	106	(T)₁₉=1.000	del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₈=0.000, dup(T)₁₂=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(T)₁₉=1.00	del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₈=0.00, dup(T)₁₂=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 2	NC_000002.12:g.192753711_192753720del
GRCh38.p14 chr 2	NC_000002.12:g.192753712_192753720del
GRCh38.p14 chr 2	NC_000002.12:g.192753713_192753720del
GRCh38.p14 chr 2	NC_000002.12:g.192753714_192753720del
GRCh38.p14 chr 2	NC_000002.12:g.192753716_192753720del
GRCh38.p14 chr 2	NC_000002.12:g.192753718_192753720del
GRCh38.p14 chr 2	NC_000002.12:g.192753719_192753720del
GRCh38.p14 chr 2	NC_000002.12:g.192753720del
GRCh38.p14 chr 2	NC_000002.12:g.192753720dup
GRCh38.p14 chr 2	NC_000002.12:g.192753719_192753720dup
GRCh38.p14 chr 2	NC_000002.12:g.192753718_192753720dup
GRCh38.p14 chr 2	NC_000002.12:g.192753717_192753720dup
GRCh38.p14 chr 2	NC_000002.12:g.192753715_192753720dup
GRCh38.p14 chr 2	NC_000002.12:g.192753713_192753720dup
GRCh38.p14 chr 2	NC_000002.12:g.192753709_192753720dup
GRCh37.p13 chr 2	NC_000002.11:g.193618437_193618446del
GRCh37.p13 chr 2	NC_000002.11:g.193618438_193618446del
GRCh37.p13 chr 2	NC_000002.11:g.193618439_193618446del
GRCh37.p13 chr 2	NC_000002.11:g.193618440_193618446del
GRCh37.p13 chr 2	NC_000002.11:g.193618442_193618446del
GRCh37.p13 chr 2	NC_000002.11:g.193618444_193618446del
GRCh37.p13 chr 2	NC_000002.11:g.193618445_193618446del
GRCh37.p13 chr 2	NC_000002.11:g.193618446del
GRCh37.p13 chr 2	NC_000002.11:g.193618446dup
GRCh37.p13 chr 2	NC_000002.11:g.193618445_193618446dup
GRCh37.p13 chr 2	NC_000002.11:g.193618444_193618446dup
GRCh37.p13 chr 2	NC_000002.11:g.193618443_193618446dup
GRCh37.p13 chr 2	NC_000002.11:g.193618441_193618446dup
GRCh37.p13 chr 2	NC_000002.11:g.193618439_193618446dup
GRCh37.p13 chr 2	NC_000002.11:g.193618435_193618446dup

Gene: PCGEM1, PCGEM1 prostate-specific transcript (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PCGEM1 transcript variant 1	NR_002769.1:n.	N/A	Intron Variant
PCGEM1 transcript variant 2	NR_152587.1:n.	N/A	Intron Variant

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

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(T)₁₉=	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₅	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₆	dup(T)₈	dup(T)₁₂
GRCh38.p14 chr 2	NC_000002.12:g.192753702_192753720=	NC_000002.12:g.192753711_192753720del	NC_000002.12:g.192753712_192753720del	NC_000002.12:g.192753713_192753720del	NC_000002.12:g.192753714_192753720del	NC_000002.12:g.192753716_192753720del	NC_000002.12:g.192753718_192753720del	NC_000002.12:g.192753719_192753720del	NC_000002.12:g.192753720del	NC_000002.12:g.192753720dup	NC_000002.12:g.192753719_192753720dup	NC_000002.12:g.192753718_192753720dup	NC_000002.12:g.192753717_192753720dup	NC_000002.12:g.192753715_192753720dup	NC_000002.12:g.192753713_192753720dup	NC_000002.12:g.192753709_192753720dup
GRCh37.p13 chr 2	NC_000002.11:g.193618428_193618446=	NC_000002.11:g.193618437_193618446del	NC_000002.11:g.193618438_193618446del	NC_000002.11:g.193618439_193618446del	NC_000002.11:g.193618440_193618446del	NC_000002.11:g.193618442_193618446del	NC_000002.11:g.193618444_193618446del	NC_000002.11:g.193618445_193618446del	NC_000002.11:g.193618446del	NC_000002.11:g.193618446dup	NC_000002.11:g.193618445_193618446dup	NC_000002.11:g.193618444_193618446dup	NC_000002.11:g.193618443_193618446dup	NC_000002.11:g.193618441_193618446dup	NC_000002.11:g.193618439_193618446dup	NC_000002.11:g.193618435_193618446dup

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#.

31 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss2991097996	Nov 08, 2017 (151)
2	PACBIO	ss3784107535	Jul 13, 2019 (153)
3	EVA	ss3827425960	Apr 25, 2020 (154)
4	GNOMAD	ss4058173200	Apr 26, 2021 (155)
5	GNOMAD	ss4058173201	Apr 26, 2021 (155)
6	GNOMAD	ss4058173202	Apr 26, 2021 (155)
7	GNOMAD	ss4058173203	Apr 26, 2021 (155)
8	GNOMAD	ss4058173204	Apr 26, 2021 (155)
9	GNOMAD	ss4058173206	Apr 26, 2021 (155)
10	GNOMAD	ss4058173207	Apr 26, 2021 (155)
11	GNOMAD	ss4058173208	Apr 26, 2021 (155)
12	GNOMAD	ss4058173209	Apr 26, 2021 (155)
13	TOPMED	ss4538856069	Apr 26, 2021 (155)
14	TOMMO_GENOMICS	ss5155762985	Apr 26, 2021 (155)
15	TOMMO_GENOMICS	ss5155762986	Apr 26, 2021 (155)
16	TOMMO_GENOMICS	ss5155762987	Apr 26, 2021 (155)
17	TOMMO_GENOMICS	ss5155762988	Apr 26, 2021 (155)
18	TOMMO_GENOMICS	ss5155762989	Apr 26, 2021 (155)
19	1000G_HIGH_COVERAGE	ss5251467415	Oct 12, 2022 (156)
20	1000G_HIGH_COVERAGE	ss5251467416	Oct 12, 2022 (156)
21	HUGCELL_USP	ss5451139393	Oct 12, 2022 (156)
22	HUGCELL_USP	ss5451139394	Oct 12, 2022 (156)
23	HUGCELL_USP	ss5451139395	Oct 12, 2022 (156)
24	HUGCELL_USP	ss5451139396	Oct 12, 2022 (156)
25	HUGCELL_USP	ss5451139397	Oct 12, 2022 (156)
26	TOMMO_GENOMICS	ss5686429903	Oct 12, 2022 (156)
27	TOMMO_GENOMICS	ss5686429904	Oct 12, 2022 (156)
28	TOMMO_GENOMICS	ss5686429905	Oct 12, 2022 (156)
29	TOMMO_GENOMICS	ss5686429906	Oct 12, 2022 (156)
30	TOMMO_GENOMICS	ss5686429907	Oct 12, 2022 (156)
31	YY_MCH	ss5803090045	Oct 12, 2022 (156)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 86103335 (NC_000002.12:192753701::T 4583/117482) Row 86103336 (NC_000002.12:192753701::TT 1280/117446) Row 86103337 (NC_000002.12:192753701::TTT 34/117476)...	-	Apr 26, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 86103335 (NC_000002.12:192753701::T 4583/117482) Row 86103336 (NC_000002.12:192753701::TT 1280/117446) Row 86103337 (NC_000002.12:192753701::TTT 34/117476)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 86103335 (NC_000002.12:192753701::T 4583/117482) Row 86103336 (NC_000002.12:192753701::TT 1280/117446) Row 86103337 (NC_000002.12:192753701::TTT 34/117476)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 86103335 (NC_000002.12:192753701::T 4583/117482) Row 86103336 (NC_000002.12:192753701::TT 1280/117446) Row 86103337 (NC_000002.12:192753701::TTT 34/117476)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 86103335 (NC_000002.12:192753701::T 4583/117482) Row 86103336 (NC_000002.12:192753701::TT 1280/117446) Row 86103337 (NC_000002.12:192753701::TTT 34/117476)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 86103335 (NC_000002.12:192753701::T 4583/117482) Row 86103336 (NC_000002.12:192753701::TT 1280/117446) Row 86103337 (NC_000002.12:192753701::TTT 34/117476)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 86103335 (NC_000002.12:192753701::T 4583/117482) Row 86103336 (NC_000002.12:192753701::TT 1280/117446) Row 86103337 (NC_000002.12:192753701::TTT 34/117476)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 86103335 (NC_000002.12:192753701::T 4583/117482) Row 86103336 (NC_000002.12:192753701::TT 1280/117446) Row 86103337 (NC_000002.12:192753701::TTT 34/117476)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 86103335 (NC_000002.12:192753701::T 4583/117482) Row 86103336 (NC_000002.12:192753701::TT 1280/117446) Row 86103337 (NC_000002.12:192753701::TTT 34/117476)...	-	Apr 26, 2021 (155)
41	8.3KJPN Submission ignored due to conflicting rows: Row 13732292 (NC_000002.11:193618427:T: 27/16756) Row 13732293 (NC_000002.11:193618427::T 89/16756) Row 13732294 (NC_000002.11:193618427:TTTTTTTTTT: 1/16756)...	-	Apr 26, 2021 (155)
42	8.3KJPN Submission ignored due to conflicting rows: Row 13732292 (NC_000002.11:193618427:T: 27/16756) Row 13732293 (NC_000002.11:193618427::T 89/16756) Row 13732294 (NC_000002.11:193618427:TTTTTTTTTT: 1/16756)...	-	Apr 26, 2021 (155)
43	8.3KJPN Submission ignored due to conflicting rows: Row 13732292 (NC_000002.11:193618427:T: 27/16756) Row 13732293 (NC_000002.11:193618427::T 89/16756) Row 13732294 (NC_000002.11:193618427:TTTTTTTTTT: 1/16756)...	-	Apr 26, 2021 (155)
44	8.3KJPN Submission ignored due to conflicting rows: Row 13732292 (NC_000002.11:193618427:T: 27/16756) Row 13732293 (NC_000002.11:193618427::T 89/16756) Row 13732294 (NC_000002.11:193618427:TTTTTTTTTT: 1/16756)...	-	Apr 26, 2021 (155)
45	8.3KJPN Submission ignored due to conflicting rows: Row 13732292 (NC_000002.11:193618427:T: 27/16756) Row 13732293 (NC_000002.11:193618427::T 89/16756) Row 13732294 (NC_000002.11:193618427:TTTTTTTTTT: 1/16756)...	-	Apr 26, 2021 (155)
46	14KJPN Submission ignored due to conflicting rows: Row 20267007 (NC_000002.12:192753701::T 138/28180) Row 20267008 (NC_000002.12:192753701:T: 38/28180) Row 20267009 (NC_000002.12:192753701:TTTTTTTTTT: 1/28180)...	-	Oct 12, 2022 (156)
47	14KJPN Submission ignored due to conflicting rows: Row 20267007 (NC_000002.12:192753701::T 138/28180) Row 20267008 (NC_000002.12:192753701:T: 38/28180) Row 20267009 (NC_000002.12:192753701:TTTTTTTTTT: 1/28180)...	-	Oct 12, 2022 (156)
48	14KJPN Submission ignored due to conflicting rows: Row 20267007 (NC_000002.12:192753701::T 138/28180) Row 20267008 (NC_000002.12:192753701:T: 38/28180) Row 20267009 (NC_000002.12:192753701:TTTTTTTTTT: 1/28180)...	-	Oct 12, 2022 (156)
49	14KJPN Submission ignored due to conflicting rows: Row 20267007 (NC_000002.12:192753701::T 138/28180) Row 20267008 (NC_000002.12:192753701:T: 38/28180) Row 20267009 (NC_000002.12:192753701:TTTTTTTTTT: 1/28180)...	-	Oct 12, 2022 (156)
50	14KJPN Submission ignored due to conflicting rows: Row 20267007 (NC_000002.12:192753701::T 138/28180) Row 20267008 (NC_000002.12:192753701:T: 38/28180) Row 20267009 (NC_000002.12:192753701:TTTTTTTTTT: 1/28180)...	-	Oct 12, 2022 (156)
51	TopMed	NC_000002.12 - 192753702	Apr 26, 2021 (155)
52	ALFA	NC_000002.12 - 192753702	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5155762987	NC_000002.11:193618427:TTTTTTTTTT:	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss5686429905	NC_000002.12:192753701:TTTTTTTTTT:	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT
ss5155762989	NC_000002.11:193618427:TTTTTTTTT:	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss5686429907	NC_000002.12:192753701:TTTTTTTTT:	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT
7639834881	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
7639834881	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
342678948, ss4538856069	NC_000002.12:192753701:TTTTTTT:	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
7639834881	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4058173209	NC_000002.12:192753701:TTTTT:	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4058173208, ss5451139395	NC_000002.12:192753701:TTT:	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
7639834881	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4058173207, ss5451139397	NC_000002.12:192753701:TT:	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
7639834881	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss2991097996, ss3784107535, ss3827425960, ss5155762985	NC_000002.11:193618427:T:	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4058173206, ss5251467415, ss5451139394, ss5686429904, ss5803090045	NC_000002.12:192753701:T:	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
7639834881	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5155762986	NC_000002.11:193618427::T	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4058173200, ss5251467416, ss5451139393, ss5686429903	NC_000002.12:192753701::T	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
7639834881	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss5155762988	NC_000002.11:193618427::TT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4058173201, ss5451139396, ss5686429906	NC_000002.12:192753701::TT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
7639834881	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4058173202	NC_000002.12:192753701::TTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
7639834881	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4058173203	NC_000002.12:192753701::TTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
7639834881	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4058173204	NC_000002.12:192753701::TTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
7639834881	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
7639834881	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2404221147	NC_000002.11:193618427:TTTTTTT:	NC_000002.12:192753701:TTTTTTTTTTT… NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1049332684

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

rs1049332684