Name: rs1411263754
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.

rs1411263754

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:76752098-76752115 (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: delTTT / delTT / delT / dupT / dup…
delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₈
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.00106 (30/28258, 14KJPN)
delT=0.00000 (0/11806, ALFA)
dupT=0.00000 (0/11806, ALFA) (+ 2 more)
dupTT=0.00000 (0/11806, ALFA)
dupT=0.0030 (14/4692, 8.3KJPN)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PRUNE2 : 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	HWEP
Total	Global	11806	TTTTTTTTTTTTTTTTTT=1.00000	TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000	1.0	N/A
European	Sub	7570	TTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	2814	TTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	108	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
African American	Sub	2706	TTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	108	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
East Asian	Sub	84	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	24	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	146	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
Latin American 2	Sub	606	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	94	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	468	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	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
14KJPN	JAPANESE	Study-wide	28258	- No frequency provided	dupT=0.00106
Allele Frequency Aggregator	Total	Global	11806	(T)₁₈=1.00000	delT=0.00000, dupT=0.00000, dupTT=0.00000
Allele Frequency Aggregator	European	Sub	7570	(T)₁₈=1.0000	delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	African	Sub	2814	(T)₁₈=1.0000	delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	606	(T)₁₈=1.000	delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	468	(T)₁₈=1.000	delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(T)₁₈=1.000	delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Asian	Sub	108	(T)₁₈=1.000	delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(T)₁₈=1.00	delT=0.00, dupT=0.00, dupTT=0.00
8.3KJPN	JAPANESE	Study-wide	4692	- No frequency provided	dupT=0.0030

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 9	NC_000009.12:g.76752113_76752115del
GRCh38.p14 chr 9	NC_000009.12:g.76752114_76752115del
GRCh38.p14 chr 9	NC_000009.12:g.76752115del
GRCh38.p14 chr 9	NC_000009.12:g.76752115dup
GRCh38.p14 chr 9	NC_000009.12:g.76752114_76752115dup
GRCh38.p14 chr 9	NC_000009.12:g.76752113_76752115dup
GRCh38.p14 chr 9	NC_000009.12:g.76752108_76752115dup
GRCh37.p13 chr 9	NC_000009.11:g.79367029_79367031del
GRCh37.p13 chr 9	NC_000009.11:g.79367030_79367031del
GRCh37.p13 chr 9	NC_000009.11:g.79367031del
GRCh37.p13 chr 9	NC_000009.11:g.79367031dup
GRCh37.p13 chr 9	NC_000009.11:g.79367030_79367031dup
GRCh37.p13 chr 9	NC_000009.11:g.79367029_79367031dup
GRCh37.p13 chr 9	NC_000009.11:g.79367024_79367031dup

Gene: PRUNE2, prune homolog 2 with BCH domain (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRUNE2 transcript variant 2	NM_001308047.2:c.757-3837… NM_001308047.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant 3	NM_001308048.2:c.757-3837… NM_001308048.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant 1	NM_015225.3:c.757-38379_7… NM_015225.3:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant 4	NM_001308049.2:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant 5	NM_001308050.2:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant 6	NM_001308051.2:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant 8	NM_001330680.2:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant 7	NR_131751.2:n.	N/A	Intron Variant
PRUNE2 transcript variant X7	XM_005251745.2:c.757-3837… XM_005251745.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X8	XM_005251746.2:c.757-3837… XM_005251746.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X9	XM_005251748.2:c.757-3837… XM_005251748.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X11	XM_005251750.2:c.757-3837… XM_005251750.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X20	XM_005251751.2:c.757-3837… XM_005251751.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X26	XM_005251754.3:c.757-3837… XM_005251754.3:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X1	XM_006716982.2:c.757-3837… XM_006716982.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X2	XM_006716983.2:c.757-3837… XM_006716983.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X5	XM_006716984.3:c.757-3837… XM_006716984.3:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X3	XM_006716985.2:c.757-3837… XM_006716985.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X6	XM_006716986.2:c.757-3837… XM_006716986.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X10	XM_011518323.3:c.757-3837… XM_011518323.3:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X15	XM_011518326.3:c.757-3837… XM_011518326.3:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X16	XM_011518327.2:c.757-3837… XM_011518327.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X23	XM_011518328.3:c.757-3837… XM_011518328.3:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X13	XM_017014346.2:c.757-3837… XM_017014346.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X18	XM_017014348.2:c.757-3837… XM_017014348.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X19	XM_017014349.2:c.757-3837… XM_017014349.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X21	XM_017014351.2:c.757-3837… XM_017014351.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X24	XM_017014352.2:c.757-3837… XM_017014352.2:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X25	XM_017014353.3:c.757-3837… XM_017014353.3:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X4	XM_047422876.1:c.757-3837… XM_047422876.1:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X12	XM_047422878.1:c.757-3837… XM_047422878.1:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X14	XM_047422879.1:c.757-3837… XM_047422879.1:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X17	XM_047422880.1:c.757-3837… XM_047422880.1:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X22	XM_047422881.1:c.757-3837… XM_047422881.1:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X27	XM_047422882.1:c.757-3837… XM_047422882.1:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X28	XM_047422883.1:c.757-3837… XM_047422883.1:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X29	XM_047422884.1:c.757-3837… XM_047422884.1:c.757-38379_757-38377del	N/A	Intron Variant
PRUNE2 transcript variant X30	XM_047422885.1:c.229-3837… XM_047422885.1:c.229-38379_229-38377del	N/A	Intron Variant
PRUNE2 transcript variant X31	XM_017014354.3:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant X32	XM_017014356.3:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant X33	XM_017014357.3:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant X34	XM_017014359.3:c.	N/A	Genic Upstream Transcript Variant

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

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=	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₈
GRCh38.p14 chr 9	NC_000009.12:g.76752098_76752115=	NC_000009.12:g.76752113_76752115del	NC_000009.12:g.76752114_76752115del	NC_000009.12:g.76752115del	NC_000009.12:g.76752115dup	NC_000009.12:g.76752114_76752115dup	NC_000009.12:g.76752113_76752115dup	NC_000009.12:g.76752108_76752115dup
GRCh37.p13 chr 9	NC_000009.11:g.79367014_79367031=	NC_000009.11:g.79367029_79367031del	NC_000009.11:g.79367030_79367031del	NC_000009.11:g.79367031del	NC_000009.11:g.79367031dup	NC_000009.11:g.79367030_79367031dup	NC_000009.11:g.79367029_79367031dup	NC_000009.11:g.79367024_79367031dup
PRUNE2 transcript variant 2	NM_001308047.2:c.757-38377=	NM_001308047.2:c.757-38379_757-38377del	NM_001308047.2:c.757-38378_757-38377del	NM_001308047.2:c.757-38377del	NM_001308047.2:c.757-38377dup	NM_001308047.2:c.757-38378_757-38377dup	NM_001308047.2:c.757-38379_757-38377dup	NM_001308047.2:c.757-38384_757-38377dup
PRUNE2 transcript variant 3	NM_001308048.2:c.757-38377=	NM_001308048.2:c.757-38379_757-38377del	NM_001308048.2:c.757-38378_757-38377del	NM_001308048.2:c.757-38377del	NM_001308048.2:c.757-38377dup	NM_001308048.2:c.757-38378_757-38377dup	NM_001308048.2:c.757-38379_757-38377dup	NM_001308048.2:c.757-38384_757-38377dup
PRUNE2 transcript variant 1	NM_015225.2:c.757-38377=	NM_015225.2:c.757-38379_757-38377del	NM_015225.2:c.757-38378_757-38377del	NM_015225.2:c.757-38377del	NM_015225.2:c.757-38377dup	NM_015225.2:c.757-38378_757-38377dup	NM_015225.2:c.757-38379_757-38377dup	NM_015225.2:c.757-38384_757-38377dup
PRUNE2 transcript variant 1	NM_015225.3:c.757-38377=	NM_015225.3:c.757-38379_757-38377del	NM_015225.3:c.757-38378_757-38377del	NM_015225.3:c.757-38377del	NM_015225.3:c.757-38377dup	NM_015225.3:c.757-38378_757-38377dup	NM_015225.3:c.757-38379_757-38377dup	NM_015225.3:c.757-38384_757-38377dup
PRUNE2 transcript variant X7	XM_005251745.1:c.757-38377=	XM_005251745.1:c.757-38379_757-38377del	XM_005251745.1:c.757-38378_757-38377del	XM_005251745.1:c.757-38377del	XM_005251745.1:c.757-38377dup	XM_005251745.1:c.757-38378_757-38377dup	XM_005251745.1:c.757-38379_757-38377dup	XM_005251745.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X7	XM_005251745.2:c.757-38377=	XM_005251745.2:c.757-38379_757-38377del	XM_005251745.2:c.757-38378_757-38377del	XM_005251745.2:c.757-38377del	XM_005251745.2:c.757-38377dup	XM_005251745.2:c.757-38378_757-38377dup	XM_005251745.2:c.757-38379_757-38377dup	XM_005251745.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X8	XM_005251746.1:c.757-38377=	XM_005251746.1:c.757-38379_757-38377del	XM_005251746.1:c.757-38378_757-38377del	XM_005251746.1:c.757-38377del	XM_005251746.1:c.757-38377dup	XM_005251746.1:c.757-38378_757-38377dup	XM_005251746.1:c.757-38379_757-38377dup	XM_005251746.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X8	XM_005251746.2:c.757-38377=	XM_005251746.2:c.757-38379_757-38377del	XM_005251746.2:c.757-38378_757-38377del	XM_005251746.2:c.757-38377del	XM_005251746.2:c.757-38377dup	XM_005251746.2:c.757-38378_757-38377dup	XM_005251746.2:c.757-38379_757-38377dup	XM_005251746.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X3	XM_005251747.1:c.757-38377=	XM_005251747.1:c.757-38379_757-38377del	XM_005251747.1:c.757-38378_757-38377del	XM_005251747.1:c.757-38377del	XM_005251747.1:c.757-38377dup	XM_005251747.1:c.757-38378_757-38377dup	XM_005251747.1:c.757-38379_757-38377dup	XM_005251747.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X10	XM_005251748.1:c.757-38377=	XM_005251748.1:c.757-38379_757-38377del	XM_005251748.1:c.757-38378_757-38377del	XM_005251748.1:c.757-38377del	XM_005251748.1:c.757-38377dup	XM_005251748.1:c.757-38378_757-38377dup	XM_005251748.1:c.757-38379_757-38377dup	XM_005251748.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X9	XM_005251748.2:c.757-38377=	XM_005251748.2:c.757-38379_757-38377del	XM_005251748.2:c.757-38378_757-38377del	XM_005251748.2:c.757-38377del	XM_005251748.2:c.757-38377dup	XM_005251748.2:c.757-38378_757-38377dup	XM_005251748.2:c.757-38379_757-38377dup	XM_005251748.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X5	XM_005251749.1:c.757-38377=	XM_005251749.1:c.757-38379_757-38377del	XM_005251749.1:c.757-38378_757-38377del	XM_005251749.1:c.757-38377del	XM_005251749.1:c.757-38377dup	XM_005251749.1:c.757-38378_757-38377dup	XM_005251749.1:c.757-38379_757-38377dup	XM_005251749.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X13	XM_005251750.1:c.757-38377=	XM_005251750.1:c.757-38379_757-38377del	XM_005251750.1:c.757-38378_757-38377del	XM_005251750.1:c.757-38377del	XM_005251750.1:c.757-38377dup	XM_005251750.1:c.757-38378_757-38377dup	XM_005251750.1:c.757-38379_757-38377dup	XM_005251750.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X11	XM_005251750.2:c.757-38377=	XM_005251750.2:c.757-38379_757-38377del	XM_005251750.2:c.757-38378_757-38377del	XM_005251750.2:c.757-38377del	XM_005251750.2:c.757-38377dup	XM_005251750.2:c.757-38378_757-38377dup	XM_005251750.2:c.757-38379_757-38377dup	XM_005251750.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X20	XM_005251751.1:c.757-38377=	XM_005251751.1:c.757-38379_757-38377del	XM_005251751.1:c.757-38378_757-38377del	XM_005251751.1:c.757-38377del	XM_005251751.1:c.757-38377dup	XM_005251751.1:c.757-38378_757-38377dup	XM_005251751.1:c.757-38379_757-38377dup	XM_005251751.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X20	XM_005251751.2:c.757-38377=	XM_005251751.2:c.757-38379_757-38377del	XM_005251751.2:c.757-38378_757-38377del	XM_005251751.2:c.757-38377del	XM_005251751.2:c.757-38377dup	XM_005251751.2:c.757-38378_757-38377dup	XM_005251751.2:c.757-38379_757-38377dup	XM_005251751.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X18	XM_005251752.1:c.757-38377=	XM_005251752.1:c.757-38379_757-38377del	XM_005251752.1:c.757-38378_757-38377del	XM_005251752.1:c.757-38377del	XM_005251752.1:c.757-38377dup	XM_005251752.1:c.757-38378_757-38377dup	XM_005251752.1:c.757-38379_757-38377dup	XM_005251752.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X19	XM_005251753.1:c.757-38377=	XM_005251753.1:c.757-38379_757-38377del	XM_005251753.1:c.757-38378_757-38377del	XM_005251753.1:c.757-38377del	XM_005251753.1:c.757-38377dup	XM_005251753.1:c.757-38378_757-38377dup	XM_005251753.1:c.757-38379_757-38377dup	XM_005251753.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X28	XM_005251754.1:c.757-38377=	XM_005251754.1:c.757-38379_757-38377del	XM_005251754.1:c.757-38378_757-38377del	XM_005251754.1:c.757-38377del	XM_005251754.1:c.757-38377dup	XM_005251754.1:c.757-38378_757-38377dup	XM_005251754.1:c.757-38379_757-38377dup	XM_005251754.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X26	XM_005251754.3:c.757-38377=	XM_005251754.3:c.757-38379_757-38377del	XM_005251754.3:c.757-38378_757-38377del	XM_005251754.3:c.757-38377del	XM_005251754.3:c.757-38377dup	XM_005251754.3:c.757-38378_757-38377dup	XM_005251754.3:c.757-38379_757-38377dup	XM_005251754.3:c.757-38384_757-38377dup
PRUNE2 transcript variant X1	XM_006716982.2:c.757-38377=	XM_006716982.2:c.757-38379_757-38377del	XM_006716982.2:c.757-38378_757-38377del	XM_006716982.2:c.757-38377del	XM_006716982.2:c.757-38377dup	XM_006716982.2:c.757-38378_757-38377dup	XM_006716982.2:c.757-38379_757-38377dup	XM_006716982.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X2	XM_006716983.2:c.757-38377=	XM_006716983.2:c.757-38379_757-38377del	XM_006716983.2:c.757-38378_757-38377del	XM_006716983.2:c.757-38377del	XM_006716983.2:c.757-38377dup	XM_006716983.2:c.757-38378_757-38377dup	XM_006716983.2:c.757-38379_757-38377dup	XM_006716983.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X5	XM_006716984.3:c.757-38377=	XM_006716984.3:c.757-38379_757-38377del	XM_006716984.3:c.757-38378_757-38377del	XM_006716984.3:c.757-38377del	XM_006716984.3:c.757-38377dup	XM_006716984.3:c.757-38378_757-38377dup	XM_006716984.3:c.757-38379_757-38377dup	XM_006716984.3:c.757-38384_757-38377dup
PRUNE2 transcript variant X3	XM_006716985.2:c.757-38377=	XM_006716985.2:c.757-38379_757-38377del	XM_006716985.2:c.757-38378_757-38377del	XM_006716985.2:c.757-38377del	XM_006716985.2:c.757-38377dup	XM_006716985.2:c.757-38378_757-38377dup	XM_006716985.2:c.757-38379_757-38377dup	XM_006716985.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X6	XM_006716986.2:c.757-38377=	XM_006716986.2:c.757-38379_757-38377del	XM_006716986.2:c.757-38378_757-38377del	XM_006716986.2:c.757-38377del	XM_006716986.2:c.757-38377dup	XM_006716986.2:c.757-38378_757-38377dup	XM_006716986.2:c.757-38379_757-38377dup	XM_006716986.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X10	XM_011518323.3:c.757-38377=	XM_011518323.3:c.757-38379_757-38377del	XM_011518323.3:c.757-38378_757-38377del	XM_011518323.3:c.757-38377del	XM_011518323.3:c.757-38377dup	XM_011518323.3:c.757-38378_757-38377dup	XM_011518323.3:c.757-38379_757-38377dup	XM_011518323.3:c.757-38384_757-38377dup
PRUNE2 transcript variant X15	XM_011518326.3:c.757-38377=	XM_011518326.3:c.757-38379_757-38377del	XM_011518326.3:c.757-38378_757-38377del	XM_011518326.3:c.757-38377del	XM_011518326.3:c.757-38377dup	XM_011518326.3:c.757-38378_757-38377dup	XM_011518326.3:c.757-38379_757-38377dup	XM_011518326.3:c.757-38384_757-38377dup
PRUNE2 transcript variant X16	XM_011518327.2:c.757-38377=	XM_011518327.2:c.757-38379_757-38377del	XM_011518327.2:c.757-38378_757-38377del	XM_011518327.2:c.757-38377del	XM_011518327.2:c.757-38377dup	XM_011518327.2:c.757-38378_757-38377dup	XM_011518327.2:c.757-38379_757-38377dup	XM_011518327.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X23	XM_011518328.3:c.757-38377=	XM_011518328.3:c.757-38379_757-38377del	XM_011518328.3:c.757-38378_757-38377del	XM_011518328.3:c.757-38377del	XM_011518328.3:c.757-38377dup	XM_011518328.3:c.757-38378_757-38377dup	XM_011518328.3:c.757-38379_757-38377dup	XM_011518328.3:c.757-38384_757-38377dup
PRUNE2 transcript variant X13	XM_017014346.2:c.757-38377=	XM_017014346.2:c.757-38379_757-38377del	XM_017014346.2:c.757-38378_757-38377del	XM_017014346.2:c.757-38377del	XM_017014346.2:c.757-38377dup	XM_017014346.2:c.757-38378_757-38377dup	XM_017014346.2:c.757-38379_757-38377dup	XM_017014346.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X18	XM_017014348.2:c.757-38377=	XM_017014348.2:c.757-38379_757-38377del	XM_017014348.2:c.757-38378_757-38377del	XM_017014348.2:c.757-38377del	XM_017014348.2:c.757-38377dup	XM_017014348.2:c.757-38378_757-38377dup	XM_017014348.2:c.757-38379_757-38377dup	XM_017014348.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X19	XM_017014349.2:c.757-38377=	XM_017014349.2:c.757-38379_757-38377del	XM_017014349.2:c.757-38378_757-38377del	XM_017014349.2:c.757-38377del	XM_017014349.2:c.757-38377dup	XM_017014349.2:c.757-38378_757-38377dup	XM_017014349.2:c.757-38379_757-38377dup	XM_017014349.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X21	XM_017014351.2:c.757-38377=	XM_017014351.2:c.757-38379_757-38377del	XM_017014351.2:c.757-38378_757-38377del	XM_017014351.2:c.757-38377del	XM_017014351.2:c.757-38377dup	XM_017014351.2:c.757-38378_757-38377dup	XM_017014351.2:c.757-38379_757-38377dup	XM_017014351.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X24	XM_017014352.2:c.757-38377=	XM_017014352.2:c.757-38379_757-38377del	XM_017014352.2:c.757-38378_757-38377del	XM_017014352.2:c.757-38377del	XM_017014352.2:c.757-38377dup	XM_017014352.2:c.757-38378_757-38377dup	XM_017014352.2:c.757-38379_757-38377dup	XM_017014352.2:c.757-38384_757-38377dup
PRUNE2 transcript variant X25	XM_017014353.3:c.757-38377=	XM_017014353.3:c.757-38379_757-38377del	XM_017014353.3:c.757-38378_757-38377del	XM_017014353.3:c.757-38377del	XM_017014353.3:c.757-38377dup	XM_017014353.3:c.757-38378_757-38377dup	XM_017014353.3:c.757-38379_757-38377dup	XM_017014353.3:c.757-38384_757-38377dup
PRUNE2 transcript variant X4	XM_047422876.1:c.757-38377=	XM_047422876.1:c.757-38379_757-38377del	XM_047422876.1:c.757-38378_757-38377del	XM_047422876.1:c.757-38377del	XM_047422876.1:c.757-38377dup	XM_047422876.1:c.757-38378_757-38377dup	XM_047422876.1:c.757-38379_757-38377dup	XM_047422876.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X12	XM_047422878.1:c.757-38377=	XM_047422878.1:c.757-38379_757-38377del	XM_047422878.1:c.757-38378_757-38377del	XM_047422878.1:c.757-38377del	XM_047422878.1:c.757-38377dup	XM_047422878.1:c.757-38378_757-38377dup	XM_047422878.1:c.757-38379_757-38377dup	XM_047422878.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X14	XM_047422879.1:c.757-38377=	XM_047422879.1:c.757-38379_757-38377del	XM_047422879.1:c.757-38378_757-38377del	XM_047422879.1:c.757-38377del	XM_047422879.1:c.757-38377dup	XM_047422879.1:c.757-38378_757-38377dup	XM_047422879.1:c.757-38379_757-38377dup	XM_047422879.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X17	XM_047422880.1:c.757-38377=	XM_047422880.1:c.757-38379_757-38377del	XM_047422880.1:c.757-38378_757-38377del	XM_047422880.1:c.757-38377del	XM_047422880.1:c.757-38377dup	XM_047422880.1:c.757-38378_757-38377dup	XM_047422880.1:c.757-38379_757-38377dup	XM_047422880.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X22	XM_047422881.1:c.757-38377=	XM_047422881.1:c.757-38379_757-38377del	XM_047422881.1:c.757-38378_757-38377del	XM_047422881.1:c.757-38377del	XM_047422881.1:c.757-38377dup	XM_047422881.1:c.757-38378_757-38377dup	XM_047422881.1:c.757-38379_757-38377dup	XM_047422881.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X27	XM_047422882.1:c.757-38377=	XM_047422882.1:c.757-38379_757-38377del	XM_047422882.1:c.757-38378_757-38377del	XM_047422882.1:c.757-38377del	XM_047422882.1:c.757-38377dup	XM_047422882.1:c.757-38378_757-38377dup	XM_047422882.1:c.757-38379_757-38377dup	XM_047422882.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X28	XM_047422883.1:c.757-38377=	XM_047422883.1:c.757-38379_757-38377del	XM_047422883.1:c.757-38378_757-38377del	XM_047422883.1:c.757-38377del	XM_047422883.1:c.757-38377dup	XM_047422883.1:c.757-38378_757-38377dup	XM_047422883.1:c.757-38379_757-38377dup	XM_047422883.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X29	XM_047422884.1:c.757-38377=	XM_047422884.1:c.757-38379_757-38377del	XM_047422884.1:c.757-38378_757-38377del	XM_047422884.1:c.757-38377del	XM_047422884.1:c.757-38377dup	XM_047422884.1:c.757-38378_757-38377dup	XM_047422884.1:c.757-38379_757-38377dup	XM_047422884.1:c.757-38384_757-38377dup
PRUNE2 transcript variant X30	XM_047422885.1:c.229-38377=	XM_047422885.1:c.229-38379_229-38377del	XM_047422885.1:c.229-38378_229-38377del	XM_047422885.1:c.229-38377del	XM_047422885.1:c.229-38377dup	XM_047422885.1:c.229-38378_229-38377dup	XM_047422885.1:c.229-38379_229-38377dup	XM_047422885.1:c.229-38384_229-38377dup

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#.

12 SubSNP, 8 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_DECODE	ss3724095926	Jul 13, 2019 (153)
2	EVA_DECODE	ss3724095927	Jul 13, 2019 (153)
3	EVA_DECODE	ss3724095928	Jul 13, 2019 (153)
4	GNOMAD	ss4203692566	Apr 27, 2021 (155)
5	GNOMAD	ss4203692567	Apr 27, 2021 (155)
6	GNOMAD	ss4203692568	Apr 27, 2021 (155)
7	GNOMAD	ss4203692570	Apr 27, 2021 (155)
8	GNOMAD	ss4203692571	Apr 27, 2021 (155)
9	TOMMO_GENOMICS	ss5193792234	Apr 27, 2021 (155)
10	HUGCELL_USP	ss5477000120	Oct 16, 2022 (156)
11	SANFORD_IMAGENETICS	ss5647603811	Oct 16, 2022 (156)
12	TOMMO_GENOMICS	ss5737876369	Oct 16, 2022 (156)
13	gnomAD - Genomes Submission ignored due to conflicting rows: Row 328059834 (NC_000009.12:76752097::TT 27/19518) Row 328059835 (NC_000009.12:76752097::TTT 3/19532) Row 328059836 (NC_000009.12:76752097::TTTTTTTT 1/19538)...	-	Apr 27, 2021 (155)
14	gnomAD - Genomes Submission ignored due to conflicting rows: Row 328059834 (NC_000009.12:76752097::TT 27/19518) Row 328059835 (NC_000009.12:76752097::TTT 3/19532) Row 328059836 (NC_000009.12:76752097::TTTTTTTT 1/19538)...	-	Apr 27, 2021 (155)
15	gnomAD - Genomes Submission ignored due to conflicting rows: Row 328059834 (NC_000009.12:76752097::TT 27/19518) Row 328059835 (NC_000009.12:76752097::TTT 3/19532) Row 328059836 (NC_000009.12:76752097::TTTTTTTT 1/19538)...	-	Apr 27, 2021 (155)
16	gnomAD - Genomes Submission ignored due to conflicting rows: Row 328059834 (NC_000009.12:76752097::TT 27/19518) Row 328059835 (NC_000009.12:76752097::TTT 3/19532) Row 328059836 (NC_000009.12:76752097::TTTTTTTT 1/19538)...	-	Apr 27, 2021 (155)
17	gnomAD - Genomes Submission ignored due to conflicting rows: Row 328059834 (NC_000009.12:76752097::TT 27/19518) Row 328059835 (NC_000009.12:76752097::TTT 3/19532) Row 328059836 (NC_000009.12:76752097::TTTTTTTT 1/19538)...	-	Apr 27, 2021 (155)
18	8.3KJPN	NC_000009.11 - 79367014	Apr 27, 2021 (155)
19	14KJPN	NC_000009.12 - 76752098	Oct 16, 2022 (156)
20	ALFA	NC_000009.12 - 76752098	Apr 27, 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
ss3724095926	NC_000009.12:76752097:TTT:	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4203692571	NC_000009.12:76752097:TT:	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4203692570	NC_000009.12:76752097:T:	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
4843726201	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3724095927	NC_000009.12:76752099:T:	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
51761541, ss5193792234, ss5647603811	NC_000009.11:79367013::T	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
71713473, ss5477000120, ss5737876369	NC_000009.12:76752097::T	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
4843726201	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3724095928	NC_000009.12:76752100::T	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4203692566	NC_000009.12:76752097::TT	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
4843726201	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4203692567	NC_000009.12:76752097::TTT	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4203692568	NC_000009.12:76752097::TTTTTTTT	NC_000009.12:76752097:TTTTTTTTTTTT… NC_000009.12:76752097:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs1411263754

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1411263754