Name: rs11408746
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.

rs11408746

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:21475431-21475448 (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)₇ / del(T)₆ / del(T)₅ / del(…
del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₇ / dup(T)₁₀
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₇=0.000004 (1/264690, TOPMED)
(T)₁₈=0.3209 (1607/5008, 1000G)
(T)₁₈=0.3611 (1779/4927, ALFA) (+ 2 more)
(T)₁₈=0.0031 (12/3854, ALSPAC)
(T)₁₈=0.0038 (14/3708, TWINSUK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RAB2B : Intron Variant
TOX4 : 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	4927	TTTTTTTTTTTTTTTTTT=0.3611	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.6359, TTTTTTTTTTTTTTTTTTTT=0.0030, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	0.293202	0.565111	0.141687	32
European	Sub	4493	TTTTTTTTTTTTTTTTTT=0.3005	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.6962, TTTTTTTTTTTTTTTTTTTT=0.0033, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	0.225618	0.619326	0.155056	32
African	Sub	370	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	8	TTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	362	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	2	TTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	26	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	2	TTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	34	TTTTTTTTTTTTTTTTTT=0.85	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.15, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	0.823529	0.117647	0.058824	6

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
TopMed	Global	Study-wide	264690	(T)₁₈=0.999996	del(T)₇=0.000004
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.6791
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.4766
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.8234
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.7147
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.819
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.607
Allele Frequency Aggregator	Total	Global	4927	(T)₁₈=0.3611	del(T)₇=0.0000, del(T)₆=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.6359, dupTT=0.0030, dupTTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	European	Sub	4493	(T)₁₈=0.3005	del(T)₇=0.0000, del(T)₆=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.6962, dupTT=0.0033, dupTTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	African	Sub	370	(T)₁₈=1.000	del(T)₇=0.000, del(T)₆=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	34	(T)₁₈=0.85	del(T)₇=0.00, del(T)₆=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.15, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	Latin American 2	Sub	26	(T)₁₈=1.00	del(T)₇=0.00, del(T)₆=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	Latin American 1	Sub	2	(T)₁₈=1.0	del(T)₇=0.0, del(T)₆=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(T)₁₈=1.0	del(T)₇=0.0, del(T)₆=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0
Allele Frequency Aggregator	Asian	Sub	0	(T)₁₈=0	del(T)₇=0, del(T)₆=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₄=0
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupT=0.9969
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupT=0.9962

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 14	NC_000014.9:g.21475442_21475448del
GRCh38.p14 chr 14	NC_000014.9:g.21475443_21475448del
GRCh38.p14 chr 14	NC_000014.9:g.21475444_21475448del
GRCh38.p14 chr 14	NC_000014.9:g.21475445_21475448del
GRCh38.p14 chr 14	NC_000014.9:g.21475446_21475448del
GRCh38.p14 chr 14	NC_000014.9:g.21475447_21475448del
GRCh38.p14 chr 14	NC_000014.9:g.21475448del
GRCh38.p14 chr 14	NC_000014.9:g.21475448dup
GRCh38.p14 chr 14	NC_000014.9:g.21475447_21475448dup
GRCh38.p14 chr 14	NC_000014.9:g.21475446_21475448dup
GRCh38.p14 chr 14	NC_000014.9:g.21475445_21475448dup
GRCh38.p14 chr 14	NC_000014.9:g.21475444_21475448dup
GRCh38.p14 chr 14	NC_000014.9:g.21475442_21475448dup
GRCh38.p14 chr 14	NC_000014.9:g.21475439_21475448dup
GRCh37.p13 chr 14	NC_000014.8:g.21943601_21943607del
GRCh37.p13 chr 14	NC_000014.8:g.21943602_21943607del
GRCh37.p13 chr 14	NC_000014.8:g.21943603_21943607del
GRCh37.p13 chr 14	NC_000014.8:g.21943604_21943607del
GRCh37.p13 chr 14	NC_000014.8:g.21943605_21943607del
GRCh37.p13 chr 14	NC_000014.8:g.21943606_21943607del
GRCh37.p13 chr 14	NC_000014.8:g.21943607del
GRCh37.p13 chr 14	NC_000014.8:g.21943607dup
GRCh37.p13 chr 14	NC_000014.8:g.21943606_21943607dup
GRCh37.p13 chr 14	NC_000014.8:g.21943605_21943607dup
GRCh37.p13 chr 14	NC_000014.8:g.21943604_21943607dup
GRCh37.p13 chr 14	NC_000014.8:g.21943603_21943607dup
GRCh37.p13 chr 14	NC_000014.8:g.21943601_21943607dup
GRCh37.p13 chr 14	NC_000014.8:g.21943598_21943607dup

Gene: RAB2B, RAB2B, member RAS oncogene family (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RAB2B transcript variant 2	NM_001163380.2:c.-20-503_… NM_001163380.2:c.-20-503_-20-497del	N/A	Intron Variant
RAB2B transcript variant 1	NM_032846.4:c.119-503_119… NM_032846.4:c.119-503_119-497del	N/A	Intron Variant
RAB2B transcript variant 3	NR_028074.2:n.	N/A	Intron Variant
RAB2B transcript variant X2	XM_017021712.2:c.-76-503_… XM_017021712.2:c.-76-503_-76-497del	N/A	Intron Variant
RAB2B transcript variant X1	XM_047431809.1:c.	N/A	Genic Upstream Transcript Variant

Gene: TOX4, TOX high mobility group box family member 4 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
TOX4 transcript variant 2	NM_001303523.2:c.	N/A	Upstream Transcript Variant
TOX4 transcript variant 1	NM_014828.4: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)₁₈=	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₇	dup(T)₁₀
GRCh38.p14 chr 14	NC_000014.9:g.21475431_21475448=	NC_000014.9:g.21475442_21475448del	NC_000014.9:g.21475443_21475448del	NC_000014.9:g.21475444_21475448del	NC_000014.9:g.21475445_21475448del	NC_000014.9:g.21475446_21475448del	NC_000014.9:g.21475447_21475448del	NC_000014.9:g.21475448del	NC_000014.9:g.21475448dup	NC_000014.9:g.21475447_21475448dup	NC_000014.9:g.21475446_21475448dup	NC_000014.9:g.21475445_21475448dup	NC_000014.9:g.21475444_21475448dup	NC_000014.9:g.21475442_21475448dup	NC_000014.9:g.21475439_21475448dup
GRCh37.p13 chr 14	NC_000014.8:g.21943590_21943607=	NC_000014.8:g.21943601_21943607del	NC_000014.8:g.21943602_21943607del	NC_000014.8:g.21943603_21943607del	NC_000014.8:g.21943604_21943607del	NC_000014.8:g.21943605_21943607del	NC_000014.8:g.21943606_21943607del	NC_000014.8:g.21943607del	NC_000014.8:g.21943607dup	NC_000014.8:g.21943606_21943607dup	NC_000014.8:g.21943605_21943607dup	NC_000014.8:g.21943604_21943607dup	NC_000014.8:g.21943603_21943607dup	NC_000014.8:g.21943601_21943607dup	NC_000014.8:g.21943598_21943607dup
RAB2B transcript variant 2	NM_001163380.1:c.-20-497=	NM_001163380.1:c.-20-503_-20-497del	NM_001163380.1:c.-20-502_-20-497del	NM_001163380.1:c.-20-501_-20-497del	NM_001163380.1:c.-20-500_-20-497del	NM_001163380.1:c.-20-499_-20-497del	NM_001163380.1:c.-20-498_-20-497del	NM_001163380.1:c.-20-497del	NM_001163380.1:c.-20-497dup	NM_001163380.1:c.-20-498_-20-497dup	NM_001163380.1:c.-20-499_-20-497dup	NM_001163380.1:c.-20-500_-20-497dup	NM_001163380.1:c.-20-501_-20-497dup	NM_001163380.1:c.-20-503_-20-497dup	NM_001163380.1:c.-20-506_-20-497dup
RAB2B transcript variant 2	NM_001163380.2:c.-20-497=	NM_001163380.2:c.-20-503_-20-497del	NM_001163380.2:c.-20-502_-20-497del	NM_001163380.2:c.-20-501_-20-497del	NM_001163380.2:c.-20-500_-20-497del	NM_001163380.2:c.-20-499_-20-497del	NM_001163380.2:c.-20-498_-20-497del	NM_001163380.2:c.-20-497del	NM_001163380.2:c.-20-497dup	NM_001163380.2:c.-20-498_-20-497dup	NM_001163380.2:c.-20-499_-20-497dup	NM_001163380.2:c.-20-500_-20-497dup	NM_001163380.2:c.-20-501_-20-497dup	NM_001163380.2:c.-20-503_-20-497dup	NM_001163380.2:c.-20-506_-20-497dup
RAB2B transcript variant 1	NM_032846.3:c.119-497=	NM_032846.3:c.119-503_119-497del	NM_032846.3:c.119-502_119-497del	NM_032846.3:c.119-501_119-497del	NM_032846.3:c.119-500_119-497del	NM_032846.3:c.119-499_119-497del	NM_032846.3:c.119-498_119-497del	NM_032846.3:c.119-497del	NM_032846.3:c.119-497dup	NM_032846.3:c.119-498_119-497dup	NM_032846.3:c.119-499_119-497dup	NM_032846.3:c.119-500_119-497dup	NM_032846.3:c.119-501_119-497dup	NM_032846.3:c.119-503_119-497dup	NM_032846.3:c.119-506_119-497dup
RAB2B transcript variant 1	NM_032846.4:c.119-497=	NM_032846.4:c.119-503_119-497del	NM_032846.4:c.119-502_119-497del	NM_032846.4:c.119-501_119-497del	NM_032846.4:c.119-500_119-497del	NM_032846.4:c.119-499_119-497del	NM_032846.4:c.119-498_119-497del	NM_032846.4:c.119-497del	NM_032846.4:c.119-497dup	NM_032846.4:c.119-498_119-497dup	NM_032846.4:c.119-499_119-497dup	NM_032846.4:c.119-500_119-497dup	NM_032846.4:c.119-501_119-497dup	NM_032846.4:c.119-503_119-497dup	NM_032846.4:c.119-506_119-497dup
RAB2B transcript variant X2	XM_017021712.2:c.-76-497=	XM_017021712.2:c.-76-503_-76-497del	XM_017021712.2:c.-76-502_-76-497del	XM_017021712.2:c.-76-501_-76-497del	XM_017021712.2:c.-76-500_-76-497del	XM_017021712.2:c.-76-499_-76-497del	XM_017021712.2:c.-76-498_-76-497del	XM_017021712.2:c.-76-497del	XM_017021712.2:c.-76-497dup	XM_017021712.2:c.-76-498_-76-497dup	XM_017021712.2:c.-76-499_-76-497dup	XM_017021712.2:c.-76-500_-76-497dup	XM_017021712.2:c.-76-501_-76-497dup	XM_017021712.2:c.-76-503_-76-497dup	XM_017021712.2:c.-76-506_-76-497dup

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#.

51 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80291499	Dec 04, 2013 (144)
2	HUMANGENOME_JCVI	ss95634691	Feb 03, 2009 (137)
3	PJP	ss294822492	May 09, 2011 (137)
4	PJP	ss294822493	May 09, 2011 (137)
5	BILGI_BIOE	ss666617965	Apr 25, 2013 (138)
6	1000GENOMES	ss1373797783	Aug 21, 2014 (142)
7	EVA_UK10K_ALSPAC	ss1707971184	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1707971317	Apr 01, 2015 (144)
9	SWEGEN	ss3011842776	Nov 08, 2017 (151)
10	MCHAISSO	ss3064619351	Nov 08, 2017 (151)
11	MCHAISSO	ss3065545645	Nov 08, 2017 (151)
12	URBANLAB	ss3650155997	Oct 12, 2018 (152)
13	EVA_DECODE	ss3696246898	Jul 13, 2019 (153)
14	EVA_DECODE	ss3696246899	Jul 13, 2019 (153)
15	EVA_DECODE	ss3696246900	Jul 13, 2019 (153)
16	PACBIO	ss3787603027	Jul 13, 2019 (153)
17	PACBIO	ss3792651533	Jul 13, 2019 (153)
18	PACBIO	ss3797535604	Jul 13, 2019 (153)
19	KHV_HUMAN_GENOMES	ss3817389201	Jul 13, 2019 (153)
20	EVA	ss3833803078	Apr 27, 2020 (154)
21	GNOMAD	ss4274258568	Apr 26, 2021 (155)
22	GNOMAD	ss4274258572	Apr 26, 2021 (155)
23	GNOMAD	ss4274258573	Apr 26, 2021 (155)
24	GNOMAD	ss4274258574	Apr 26, 2021 (155)
25	GNOMAD	ss4274258575	Apr 26, 2021 (155)
26	GNOMAD	ss4274258576	Apr 26, 2021 (155)
27	GNOMAD	ss4274258578	Apr 26, 2021 (155)
28	GNOMAD	ss4274258579	Apr 26, 2021 (155)
29	GNOMAD	ss4274258580	Apr 26, 2021 (155)
30	GNOMAD	ss4274258581	Apr 26, 2021 (155)
31	GNOMAD	ss4274258582	Apr 26, 2021 (155)
32	GNOMAD	ss4274258583	Apr 26, 2021 (155)
33	TOPMED	ss4963103304	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5212247193	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5212247195	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5212247196	Apr 26, 2021 (155)
37	1000G_HIGH_COVERAGE	ss5295453475	Oct 16, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5295453476	Oct 16, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5295453477	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5489590214	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5489590215	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5489590216	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5764767429	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5764767431	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5764767432	Oct 16, 2022 (156)
46	EVA	ss5840802103	Oct 16, 2022 (156)
47	EVA	ss5840802104	Oct 16, 2022 (156)
48	EVA	ss5840802105	Oct 16, 2022 (156)
49	EVA	ss5850940988	Oct 16, 2022 (156)
50	EVA	ss5900468192	Oct 16, 2022 (156)
51	EVA	ss5947192689	Oct 16, 2022 (156)
52	1000Genomes	NC_000014.8 - 21943590	Oct 12, 2018 (152)
53	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 21943590	Oct 12, 2018 (152)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444837458 (NC_000014.9:21475430::T 95620/118652) Row 444837462 (NC_000014.9:21475430::TT 515/118616) Row 444837463 (NC_000014.9:21475430::TTT 25/118648)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444837458 (NC_000014.9:21475430::T 95620/118652) Row 444837462 (NC_000014.9:21475430::TT 515/118616) Row 444837463 (NC_000014.9:21475430::TTT 25/118648)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444837458 (NC_000014.9:21475430::T 95620/118652) Row 444837462 (NC_000014.9:21475430::TT 515/118616) Row 444837463 (NC_000014.9:21475430::TTT 25/118648)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444837458 (NC_000014.9:21475430::T 95620/118652) Row 444837462 (NC_000014.9:21475430::TT 515/118616) Row 444837463 (NC_000014.9:21475430::TTT 25/118648)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444837458 (NC_000014.9:21475430::T 95620/118652) Row 444837462 (NC_000014.9:21475430::TT 515/118616) Row 444837463 (NC_000014.9:21475430::TTT 25/118648)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444837458 (NC_000014.9:21475430::T 95620/118652) Row 444837462 (NC_000014.9:21475430::TT 515/118616) Row 444837463 (NC_000014.9:21475430::TTT 25/118648)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444837458 (NC_000014.9:21475430::T 95620/118652) Row 444837462 (NC_000014.9:21475430::TT 515/118616) Row 444837463 (NC_000014.9:21475430::TTT 25/118648)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444837458 (NC_000014.9:21475430::T 95620/118652) Row 444837462 (NC_000014.9:21475430::TT 515/118616) Row 444837463 (NC_000014.9:21475430::TTT 25/118648)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444837458 (NC_000014.9:21475430::T 95620/118652) Row 444837462 (NC_000014.9:21475430::TT 515/118616) Row 444837463 (NC_000014.9:21475430::TTT 25/118648)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444837458 (NC_000014.9:21475430::T 95620/118652) Row 444837462 (NC_000014.9:21475430::TT 515/118616) Row 444837463 (NC_000014.9:21475430::TTT 25/118648)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444837458 (NC_000014.9:21475430::T 95620/118652) Row 444837462 (NC_000014.9:21475430::TT 515/118616) Row 444837463 (NC_000014.9:21475430::TTT 25/118648)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 444837458 (NC_000014.9:21475430::T 95620/118652) Row 444837462 (NC_000014.9:21475430::TT 515/118616) Row 444837463 (NC_000014.9:21475430::TTT 25/118648)...	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 70216500 (NC_000014.8:21943589::T 13264/16314) Row 70216502 (NC_000014.8:21943589::TT 15/16314) Row 70216503 (NC_000014.8:21943589:T: 6/16314)	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 70216500 (NC_000014.8:21943589::T 13264/16314) Row 70216502 (NC_000014.8:21943589::TT 15/16314) Row 70216503 (NC_000014.8:21943589:T: 6/16314)	-	Apr 26, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 70216500 (NC_000014.8:21943589::T 13264/16314) Row 70216502 (NC_000014.8:21943589::TT 15/16314) Row 70216503 (NC_000014.8:21943589:T: 6/16314)	-	Apr 26, 2021 (155)
69	14KJPN Submission ignored due to conflicting rows: Row 98604533 (NC_000014.9:21475430::T 23262/28254) Row 98604535 (NC_000014.9:21475430::TT 27/28254) Row 98604536 (NC_000014.9:21475430:T: 8/28254)	-	Oct 16, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 98604533 (NC_000014.9:21475430::T 23262/28254) Row 98604535 (NC_000014.9:21475430::TT 27/28254) Row 98604536 (NC_000014.9:21475430:T: 8/28254)	-	Oct 16, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 98604533 (NC_000014.9:21475430::T 23262/28254) Row 98604535 (NC_000014.9:21475430::TT 27/28254) Row 98604536 (NC_000014.9:21475430:T: 8/28254)	-	Oct 16, 2022 (156)
72	TopMed	NC_000014.9 - 21475431	Apr 26, 2021 (155)
73	UK 10K study - Twins	NC_000014.8 - 21943590	Oct 12, 2018 (152)
74	ALFA	NC_000014.9 - 21475431	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)
rs11413234	May 11, 2012 (137)
rs34610466	May 11, 2012 (137)
rs35080598	May 23, 2006 (127)
rs35368300	May 11, 2012 (137)
rs61638405	May 23, 2008 (130)
rs67481963	May 11, 2012 (137)
rs67481964	Feb 27, 2009 (130)
rs141471944	Sep 17, 2011 (135)
rs148707242	May 11, 2012 (137)
rs397945575	Jul 01, 2015 (144)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
178648963, ss4963103304	NC_000014.9:21475430:TTTTTTT:	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
14636613935	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4274258583	NC_000014.9:21475430:TTTTTT:	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
14636613935	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4274258582	NC_000014.9:21475430:TTTTT:	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4274258581	NC_000014.9:21475430:TTTT:	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4274258580	NC_000014.9:21475430:TTT:	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
14636613935	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4274258579	NC_000014.9:21475430:TT:	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
14636613935	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5212247196	NC_000014.8:21943589:T:	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4274258578, ss5295453477, ss5489590215, ss5764767432	NC_000014.9:21475430:T:	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
14636613935	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss294822492	NC_000014.7:21013430::T	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss294822493	NC_000014.7:21013447::T	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
63077167, 35039581, 35039581, ss666617965, ss1373797783, ss1707971184, ss1707971317, ss3011842776, ss3787603027, ss3792651533, ss3797535604, ss3833803078, ss5212247193, ss5840802103, ss5947192689	NC_000014.8:21943589::T	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3064619351, ss3065545645, ss3650155997, ss3696246898, ss3817389201, ss4274258568, ss5295453475, ss5489590214, ss5764767429, ss5850940988, ss5900468192	NC_000014.9:21475430::T	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
14636613935	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss80291499, ss95634691	NT_026437.12:2943607::T	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5212247195, ss5840802104	NC_000014.8:21943589::TT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3696246899, ss4274258572, ss5295453476, ss5489590216, ss5764767431	NC_000014.9:21475430::TT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
14636613935	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss5840802105	NC_000014.8:21943589::TTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
ss4274258573	NC_000014.9:21475430::TTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
14636613935	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4274258574	NC_000014.9:21475430::TTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
14636613935	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4274258575	NC_000014.9:21475430::TTTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4274258576	NC_000014.9:21475430::TTTTTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3696246900	NC_000014.9:21475430::TTTTTTTTTT	NC_000014.9:21475430:TTTTTTTTTTTTT… NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs11408746

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

rs11408746