Name: rs1167333481
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.

rs1167333481

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chrX:120631290-120631309 (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)₁₃ / del(T)₁₀ / del(T)₇ / de…
del(T)₁₃ / del(T)₁₀ / del(T)₇ / del(T)₆ / del(T)₅ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₃=0.000004 (1/264690, TOPMED)
dupT=0.04342 (648/14924, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: C1GALT1C1 : 2KB Upstream 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	14924	TTTTTTTTTTTTTTTTTTTT=0.94941	TTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00670, TTTTTTTTTTTTTTTTTTTTT=0.04342, TTTTTTTTTTTTTTTTTTTTTTT=0.00047, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.943752	0.030089	0.026159	32
European	Sub	11384	TTTTTTTTTTTTTTTTTTTT=0.93403	TTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00878, TTTTTTTTTTTTTTTTTTTTT=0.05657, TTTTTTTTTTTTTTTTTTTTTTT=0.00061, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.926355	0.03923	0.034415	32
African	Sub	2522	TTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	102	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African American	Sub	2420	TTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	78	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	64	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	118	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	420	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	62	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	340	TTTTTTTTTTTTTTTTTTTT=0.988	TTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.012, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.988235	0.011765	0.0	32

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)₂₀=0.999996	del(T)₁₃=0.000004
Allele Frequency Aggregator	Total	Global	14924	(T)₂₀=0.94941	del(T)₁₃=0.00000, del(T)₁₀=0.00000, del(T)₆=0.00000, del(T)₅=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00670, dupT=0.04342, dupTT=0.00000, dupTTT=0.00047, dup(T)₄=0.00000
Allele Frequency Aggregator	European	Sub	11384	(T)₂₀=0.93403	del(T)₁₃=0.00000, del(T)₁₀=0.00000, del(T)₆=0.00000, del(T)₅=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00878, dupT=0.05657, dupTT=0.00000, dupTTT=0.00061, dup(T)₄=0.00000
Allele Frequency Aggregator	African	Sub	2522	(T)₂₀=1.0000	del(T)₁₃=0.0000, del(T)₁₀=0.0000, del(T)₆=0.0000, del(T)₅=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
Allele Frequency Aggregator	Latin American 2	Sub	420	(T)₂₀=1.000	del(T)₁₃=0.000, del(T)₁₀=0.000, del(T)₆=0.000, del(T)₅=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
Allele Frequency Aggregator	Other	Sub	340	(T)₂₀=0.988	del(T)₁₃=0.000, del(T)₁₀=0.000, del(T)₆=0.000, del(T)₅=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.012, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	118	(T)₂₀=1.000	del(T)₁₃=0.000, del(T)₁₀=0.000, del(T)₆=0.000, del(T)₅=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
Allele Frequency Aggregator	Asian	Sub	78	(T)₂₀=1.00	del(T)₁₃=0.00, del(T)₁₀=0.00, del(T)₆=0.00, del(T)₅=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
Allele Frequency Aggregator	South Asian	Sub	62	(T)₂₀=1.00	del(T)₁₃=0.00, del(T)₁₀=0.00, del(T)₆=0.00, del(T)₅=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

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 X	NC_000023.11:g.120631297_120631309del
GRCh38.p14 chr X	NC_000023.11:g.120631300_120631309del
GRCh38.p14 chr X	NC_000023.11:g.120631303_120631309del
GRCh38.p14 chr X	NC_000023.11:g.120631304_120631309del
GRCh38.p14 chr X	NC_000023.11:g.120631305_120631309del
GRCh38.p14 chr X	NC_000023.11:g.120631307_120631309del
GRCh38.p14 chr X	NC_000023.11:g.120631308_120631309del
GRCh38.p14 chr X	NC_000023.11:g.120631309del
GRCh38.p14 chr X	NC_000023.11:g.120631309dup
GRCh38.p14 chr X	NC_000023.11:g.120631308_120631309dup
GRCh38.p14 chr X	NC_000023.11:g.120631307_120631309dup
GRCh38.p14 chr X	NC_000023.11:g.120631306_120631309dup
GRCh37.p13 chr X	NC_000023.10:g.119765152_119765164del
GRCh37.p13 chr X	NC_000023.10:g.119765155_119765164del
GRCh37.p13 chr X	NC_000023.10:g.119765158_119765164del
GRCh37.p13 chr X	NC_000023.10:g.119765159_119765164del
GRCh37.p13 chr X	NC_000023.10:g.119765160_119765164del
GRCh37.p13 chr X	NC_000023.10:g.119765162_119765164del
GRCh37.p13 chr X	NC_000023.10:g.119765163_119765164del
GRCh37.p13 chr X	NC_000023.10:g.119765164del
GRCh37.p13 chr X	NC_000023.10:g.119765164dup
GRCh37.p13 chr X	NC_000023.10:g.119765163_119765164dup
GRCh37.p13 chr X	NC_000023.10:g.119765162_119765164dup
GRCh37.p13 chr X	NC_000023.10:g.119765161_119765164dup
C1GALT1C1 RefSeqGene	NG_016219.1:g.3849_3861del
C1GALT1C1 RefSeqGene	NG_016219.1:g.3852_3861del
C1GALT1C1 RefSeqGene	NG_016219.1:g.3855_3861del
C1GALT1C1 RefSeqGene	NG_016219.1:g.3856_3861del
C1GALT1C1 RefSeqGene	NG_016219.1:g.3857_3861del
C1GALT1C1 RefSeqGene	NG_016219.1:g.3859_3861del
C1GALT1C1 RefSeqGene	NG_016219.1:g.3860_3861del
C1GALT1C1 RefSeqGene	NG_016219.1:g.3861del
C1GALT1C1 RefSeqGene	NG_016219.1:g.3861dup
C1GALT1C1 RefSeqGene	NG_016219.1:g.3860_3861dup
C1GALT1C1 RefSeqGene	NG_016219.1:g.3859_3861dup
C1GALT1C1 RefSeqGene	NG_016219.1:g.3858_3861dup
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31365_31377del
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31368_31377del
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31371_31377del
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31372_31377del
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31373_31377del
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31375_31377del
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31376_31377del
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31377del
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31377dup
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31376_31377dup
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31375_31377dup
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31374_31377dup

Gene: C1GALT1C1, C1GALT1 specific chaperone 1 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
C1GALT1C1 transcript variant 2	NM_001011551.3:c.	N/A	Upstream Transcript Variant
C1GALT1C1 transcript variant 1	NM_152692.5:c.	N/A	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.

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)₂₀=	del(T)₁₃	del(T)₁₀	del(T)₇	del(T)₆	del(T)₅	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄
GRCh38.p14 chr X	NC_000023.11:g.120631290_120631309=	NC_000023.11:g.120631297_120631309del	NC_000023.11:g.120631300_120631309del	NC_000023.11:g.120631303_120631309del	NC_000023.11:g.120631304_120631309del	NC_000023.11:g.120631305_120631309del	NC_000023.11:g.120631307_120631309del	NC_000023.11:g.120631308_120631309del	NC_000023.11:g.120631309del	NC_000023.11:g.120631309dup	NC_000023.11:g.120631308_120631309dup	NC_000023.11:g.120631307_120631309dup	NC_000023.11:g.120631306_120631309dup
GRCh37.p13 chr X	NC_000023.10:g.119765145_119765164=	NC_000023.10:g.119765152_119765164del	NC_000023.10:g.119765155_119765164del	NC_000023.10:g.119765158_119765164del	NC_000023.10:g.119765159_119765164del	NC_000023.10:g.119765160_119765164del	NC_000023.10:g.119765162_119765164del	NC_000023.10:g.119765163_119765164del	NC_000023.10:g.119765164del	NC_000023.10:g.119765164dup	NC_000023.10:g.119765163_119765164dup	NC_000023.10:g.119765162_119765164dup	NC_000023.10:g.119765161_119765164dup
C1GALT1C1 RefSeqGene	NG_016219.1:g.3842_3861=	NG_016219.1:g.3849_3861del	NG_016219.1:g.3852_3861del	NG_016219.1:g.3855_3861del	NG_016219.1:g.3856_3861del	NG_016219.1:g.3857_3861del	NG_016219.1:g.3859_3861del	NG_016219.1:g.3860_3861del	NG_016219.1:g.3861del	NG_016219.1:g.3861dup	NG_016219.1:g.3860_3861dup	NG_016219.1:g.3859_3861dup	NG_016219.1:g.3858_3861dup
GRCh38.p14 chr X fix patch HG439_PATCH	NW_021160027.1:g.31358_31377=	NW_021160027.1:g.31365_31377del	NW_021160027.1:g.31368_31377del	NW_021160027.1:g.31371_31377del	NW_021160027.1:g.31372_31377del	NW_021160027.1:g.31373_31377del	NW_021160027.1:g.31375_31377del	NW_021160027.1:g.31376_31377del	NW_021160027.1:g.31377del	NW_021160027.1:g.31377dup	NW_021160027.1:g.31376_31377dup	NW_021160027.1:g.31375_31377dup	NW_021160027.1:g.31374_31377dup

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#.

35 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss3020546451	Nov 08, 2017 (151)
2	MCHAISSO	ss3064379247	Nov 08, 2017 (151)
3	PACBIO	ss3793814212	Jul 14, 2019 (153)
4	PACBIO	ss3793814213	Jul 14, 2019 (153)
5	PACBIO	ss3798699218	Jul 14, 2019 (153)
6	PACBIO	ss3798699219	Jul 14, 2019 (153)
7	EVA	ss3836296358	Apr 27, 2020 (154)
8	GNOMAD	ss4377914294	Apr 26, 2021 (155)
9	GNOMAD	ss4377914295	Apr 26, 2021 (155)
10	GNOMAD	ss4377914296	Apr 26, 2021 (155)
11	GNOMAD	ss4377914297	Apr 26, 2021 (155)
12	GNOMAD	ss4377914300	Apr 26, 2021 (155)
13	GNOMAD	ss4377914301	Apr 26, 2021 (155)
14	GNOMAD	ss4377914302	Apr 26, 2021 (155)
15	GNOMAD	ss4377914303	Apr 26, 2021 (155)
16	GNOMAD	ss4377914304	Apr 26, 2021 (155)
17	GNOMAD	ss4377914305	Apr 26, 2021 (155)
18	GNOMAD	ss4377914306	Apr 26, 2021 (155)
19	TOPMED	ss5135693012	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5236068728	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5236068729	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5236068730	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5236068731	Apr 26, 2021 (155)
24	1000G_HIGH_COVERAGE	ss5313764427	Oct 16, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5313764428	Oct 16, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5313764429	Oct 16, 2022 (156)
27	1000G_HIGH_COVERAGE	ss5313764430	Oct 16, 2022 (156)
28	HUGCELL_USP	ss5505193197	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5505193198	Oct 16, 2022 (156)
30	HUGCELL_USP	ss5505193199	Oct 16, 2022 (156)
31	TOMMO_GENOMICS	ss5798385116	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5798385117	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5798385118	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5798385119	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5798385120	Oct 16, 2022 (156)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 590137038 (NC_000023.11:120631289::T 7948/64665) Row 590137039 (NC_000023.11:120631289::TT 60/64678) Row 590137040 (NC_000023.11:120631289::TTT 14/64695)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 590137038 (NC_000023.11:120631289::T 7948/64665) Row 590137039 (NC_000023.11:120631289::TT 60/64678) Row 590137040 (NC_000023.11:120631289::TTT 14/64695)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 590137038 (NC_000023.11:120631289::T 7948/64665) Row 590137039 (NC_000023.11:120631289::TT 60/64678) Row 590137040 (NC_000023.11:120631289::TTT 14/64695)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 590137038 (NC_000023.11:120631289::T 7948/64665) Row 590137039 (NC_000023.11:120631289::TT 60/64678) Row 590137040 (NC_000023.11:120631289::TTT 14/64695)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 590137038 (NC_000023.11:120631289::T 7948/64665) Row 590137039 (NC_000023.11:120631289::TT 60/64678) Row 590137040 (NC_000023.11:120631289::TTT 14/64695)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 590137038 (NC_000023.11:120631289::T 7948/64665) Row 590137039 (NC_000023.11:120631289::TT 60/64678) Row 590137040 (NC_000023.11:120631289::TTT 14/64695)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 590137038 (NC_000023.11:120631289::T 7948/64665) Row 590137039 (NC_000023.11:120631289::TT 60/64678) Row 590137040 (NC_000023.11:120631289::TTT 14/64695)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 590137038 (NC_000023.11:120631289::T 7948/64665) Row 590137039 (NC_000023.11:120631289::TT 60/64678) Row 590137040 (NC_000023.11:120631289::TTT 14/64695)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 590137038 (NC_000023.11:120631289::T 7948/64665) Row 590137039 (NC_000023.11:120631289::TT 60/64678) Row 590137040 (NC_000023.11:120631289::TTT 14/64695)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 590137038 (NC_000023.11:120631289::T 7948/64665) Row 590137039 (NC_000023.11:120631289::TT 60/64678) Row 590137040 (NC_000023.11:120631289::TTT 14/64695)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 590137038 (NC_000023.11:120631289::T 7948/64665) Row 590137039 (NC_000023.11:120631289::TT 60/64678) Row 590137040 (NC_000023.11:120631289::TTT 14/64695)...	-	Apr 26, 2021 (155)
47	8.3KJPN Submission ignored due to conflicting rows: Row 94038035 (NC_000023.10:119765144::T 608/12778) Row 94038036 (NC_000023.10:119765144:T: 88/12778) Row 94038037 (NC_000023.10:119765144:TTTTTT: 31/12778)...	-	Apr 26, 2021 (155)
48	8.3KJPN Submission ignored due to conflicting rows: Row 94038035 (NC_000023.10:119765144::T 608/12778) Row 94038036 (NC_000023.10:119765144:T: 88/12778) Row 94038037 (NC_000023.10:119765144:TTTTTT: 31/12778)...	-	Apr 26, 2021 (155)
49	8.3KJPN Submission ignored due to conflicting rows: Row 94038035 (NC_000023.10:119765144::T 608/12778) Row 94038036 (NC_000023.10:119765144:T: 88/12778) Row 94038037 (NC_000023.10:119765144:TTTTTT: 31/12778)...	-	Apr 26, 2021 (155)
50	8.3KJPN Submission ignored due to conflicting rows: Row 94038035 (NC_000023.10:119765144::T 608/12778) Row 94038036 (NC_000023.10:119765144:T: 88/12778) Row 94038037 (NC_000023.10:119765144:TTTTTT: 31/12778)...	-	Apr 26, 2021 (155)
51	14KJPN Submission ignored due to conflicting rows: Row 132222220 (NC_000023.11:120631289:TTTTTT: 58/21916) Row 132222221 (NC_000023.11:120631289:T: 174/21916) Row 132222222 (NC_000023.11:120631289::T 1113/21916)...	-	Oct 16, 2022 (156)
52	14KJPN Submission ignored due to conflicting rows: Row 132222220 (NC_000023.11:120631289:TTTTTT: 58/21916) Row 132222221 (NC_000023.11:120631289:T: 174/21916) Row 132222222 (NC_000023.11:120631289::T 1113/21916)...	-	Oct 16, 2022 (156)
53	14KJPN Submission ignored due to conflicting rows: Row 132222220 (NC_000023.11:120631289:TTTTTT: 58/21916) Row 132222221 (NC_000023.11:120631289:T: 174/21916) Row 132222222 (NC_000023.11:120631289::T 1113/21916)...	-	Oct 16, 2022 (156)
54	14KJPN Submission ignored due to conflicting rows: Row 132222220 (NC_000023.11:120631289:TTTTTT: 58/21916) Row 132222221 (NC_000023.11:120631289:T: 174/21916) Row 132222222 (NC_000023.11:120631289::T 1113/21916)...	-	Oct 16, 2022 (156)
55	14KJPN Submission ignored due to conflicting rows: Row 132222220 (NC_000023.11:120631289:TTTTTT: 58/21916) Row 132222221 (NC_000023.11:120631289:T: 174/21916) Row 132222222 (NC_000023.11:120631289::T 1113/21916)...	-	Oct 16, 2022 (156)
56	TopMed	NC_000023.11 - 120631290	Apr 26, 2021 (155)
57	ALFA	NC_000023.11 - 120631290	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
699299369, ss4377914306, ss5135693012	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTT:	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTT	(self)
7225202963	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTT	(self)
ss4377914305	NC_000023.11:120631289:TTTTTTTTTT:	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
7225202963	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss5798385120	NC_000023.11:120631289:TTTTTTT:	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT
ss5236068730	NC_000023.10:119765144:TTTTTT:	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4377914304, ss5313764430, ss5798385116	NC_000023.11:120631289:TTTTTT:	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
7225202963	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4377914303	NC_000023.11:120631289:TTTTT:	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
7225202963	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4377914302	NC_000023.11:120631289:TTT:	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
7225202963	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3793814212, ss3798699218	NC_000023.10:119765144:TT:	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4377914301	NC_000023.11:120631289:TT:	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
7225202963	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3020546451, ss3793814213, ss3798699219, ss5236068729	NC_000023.10:119765144:T:	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4377914300, ss5313764428, ss5505193197, ss5798385117	NC_000023.11:120631289:T:	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
7225202963	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3836296358, ss5236068728	NC_000023.10:119765144::T	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3064379247, ss4377914294, ss5313764427, ss5505193198, ss5798385118	NC_000023.11:120631289::T	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
7225202963	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5236068731	NC_000023.10:119765144::TT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4377914295, ss5313764429, ss5505193199, ss5798385119	NC_000023.11:120631289::TT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
7225202963	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4377914296	NC_000023.11:120631289::TTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
7225202963	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4377914297	NC_000023.11:120631289::TTTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
7225202963	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000023.11:120631289:TTTTTTTTTTT… NC_000023.11:120631289: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 rs1167333481

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

rs1167333481