Name: rs1491195771
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.

rs1491195771

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:70214916-70214917 (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: delTG
Variation Type: Deletion
Frequency: delTG=0.00308 (87/28258, 14KJPN)
delTG=0.00054 (9/16760, 8.3KJPN)
delTG=0.00349 (57/16322, ALFA) (+ 1 more)
delTG=0.0050 (9/1812, Korea1K)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SRSF11 : 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	HTRZ	HWEP
Total	Global	16322	TG=0.99651	=0.00349	0.993016	0.006984	0
European	Sub	12070	TG=0.99751	=0.00249	0.995029	0.004971	0
African	Sub	2816	TG=0.9979	=0.0021	0.995739	0.004261	0
African Others	Sub	108	TG=1.000	=0.000	1.0	0.0	N/A
African American	Sub	2708	TG=0.9978	=0.0022	0.995569	0.004431	0
Asian	Sub	108	TG=0.954	=0.046	0.907407	0.092593	0
East Asian	Sub	84	TG=0.95	=0.05	0.904762	0.095238	0
Other Asian	Sub	24	TG=0.96	=0.04	0.916667	0.083333	0
Latin American 1	Sub	146	TG=1.000	=0.000	1.0	0.0	N/A
Latin American 2	Sub	610	TG=0.980	=0.020	0.960656	0.039344	0
South Asian	Sub	94	TG=0.98	=0.02	0.957447	0.042553	0
Other	Sub	478	TG=0.996	=0.004	0.991632	0.008368	0

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
14KJPN	JAPANESE	Study-wide	28258	TG=0.99692	delTG=0.00308
8.3KJPN	JAPANESE	Study-wide	16760	TG=0.99946	delTG=0.00054
Allele Frequency Aggregator	Total	Global	16322	TG=0.99651	delTG=0.00349
Allele Frequency Aggregator	European	Sub	12070	TG=0.99751	delTG=0.00249
Allele Frequency Aggregator	African	Sub	2816	TG=0.9979	delTG=0.0021
Allele Frequency Aggregator	Latin American 2	Sub	610	TG=0.980	delTG=0.020
Allele Frequency Aggregator	Other	Sub	478	TG=0.996	delTG=0.004
Allele Frequency Aggregator	Latin American 1	Sub	146	TG=1.000	delTG=0.000
Allele Frequency Aggregator	Asian	Sub	108	TG=0.954	delTG=0.046
Allele Frequency Aggregator	South Asian	Sub	94	TG=0.98	delTG=0.02
Korean Genome Project	KOREAN	Study-wide	1812	TG=0.9950	delTG=0.0050

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 1	NC_000001.11:g.70214916_70214917del
GRCh37.p13 chr 1	NC_000001.10:g.70680599_70680600del

Gene: SRSF11, serine and arginine rich splicing factor 11 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SRSF11 transcript variant 2	NM_001190987.3:c.-22-6699… NM_001190987.3:c.-22-6699_-22-6698del	N/A	Intron Variant
SRSF11 transcript variant 4	NM_001350606.2:c.-22-6699… NM_001350606.2:c.-22-6699_-22-6698del	N/A	Intron Variant
SRSF11 transcript variant 5	NM_001350607.2:c.-25-6696… NM_001350607.2:c.-25-6696_-25-6695del	N/A	Intron Variant
SRSF11 transcript variant 6	NM_001350608.2:c.-25-6696… NM_001350608.2:c.-25-6696_-25-6695del	N/A	Intron Variant
SRSF11 transcript variant 7	NM_001350609.2:c.-22-6699… NM_001350609.2:c.-22-6699_-22-6698del	N/A	Intron Variant
SRSF11 transcript variant 16	NM_001394402.1:c.-22-6699… NM_001394402.1:c.-22-6699_-22-6698del	N/A	Intron Variant
SRSF11 transcript variant 18	NM_001394404.1:c.-22-6699… NM_001394404.1:c.-22-6699_-22-6698del	N/A	Intron Variant
SRSF11 transcript variant 1	NM_004768.5:c.-25-6696_-2… NM_004768.5:c.-25-6696_-25-6695del	N/A	Intron Variant
SRSF11 transcript variant 3	NM_001350605.2:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 8	NM_001350610.2:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 9	NM_001350611.2:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 10	NM_001350612.2:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 11	NM_001350613.2:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 12	NM_001350614.2:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 13	NM_001350615.2:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 14	NM_001350616.2:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 17	NM_001394403.1:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 19	NM_001394405.1:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 20	NM_001394406.1:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 21	NM_001394407.1:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 22	NM_001394408.1:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant 15	NR_146810.2:n.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant X1	XM_047434514.1:c.-5343-13… XM_047434514.1:c.-5343-1378_-5343-1377del	N/A	Intron Variant
SRSF11 transcript variant X2	XM_047434516.1:c.-4140-13… XM_047434516.1:c.-4140-1378_-4140-1377del	N/A	Intron Variant
SRSF11 transcript variant X3	XM_047434517.1:c.-4089-26… XM_047434517.1:c.-4089-2632_-4089-2631del	N/A	Intron Variant
SRSF11 transcript variant X4	XM_047434518.1:c.-5343-13… XM_047434518.1:c.-5343-1378_-5343-1377del	N/A	Intron Variant
SRSF11 transcript variant X5	XM_047434522.1:c.-25-6696… XM_047434522.1:c.-25-6696_-25-6695del	N/A	Intron Variant
SRSF11 transcript variant X6	XM_047434523.1:c.-5343-13… XM_047434523.1:c.-5343-1378_-5343-1377del	N/A	Intron Variant
SRSF11 transcript variant X7	XM_047434524.1:c.-5343-13… XM_047434524.1:c.-5343-1378_-5343-1377del	N/A	Intron Variant
SRSF11 transcript variant X10	XM_047434541.1:c.-5343-13… XM_047434541.1:c.-5343-1378_-5343-1377del	N/A	Intron Variant
SRSF11 transcript variant X8	XM_024450906.2:c.	N/A	Genic Upstream Transcript Variant
SRSF11 transcript variant X9	XM_047434536.1: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	TG=	delTG
GRCh38.p14 chr 1	NC_000001.11:g.70214916_70214917=	NC_000001.11:g.70214916_70214917del
GRCh37.p13 chr 1	NC_000001.10:g.70680599_70680600=	NC_000001.10:g.70680599_70680600del
SRSF11 transcript variant 2	NM_001190987.1:c.-22-6699=	NM_001190987.1:c.-22-6699_-22-6698del
SRSF11 transcript variant 2	NM_001190987.3:c.-22-6699=	NM_001190987.3:c.-22-6699_-22-6698del
SRSF11 transcript variant 4	NM_001350606.2:c.-22-6699=	NM_001350606.2:c.-22-6699_-22-6698del
SRSF11 transcript variant 5	NM_001350607.2:c.-25-6696=	NM_001350607.2:c.-25-6696_-25-6695del
SRSF11 transcript variant 6	NM_001350608.2:c.-25-6696=	NM_001350608.2:c.-25-6696_-25-6695del
SRSF11 transcript variant 7	NM_001350609.2:c.-22-6699=	NM_001350609.2:c.-22-6699_-22-6698del
SRSF11 transcript variant 16	NM_001394402.1:c.-22-6699=	NM_001394402.1:c.-22-6699_-22-6698del
SRSF11 transcript variant 18	NM_001394404.1:c.-22-6699=	NM_001394404.1:c.-22-6699_-22-6698del
SRSF11 transcript variant 1	NM_004768.3:c.-25-6696=	NM_004768.3:c.-25-6696_-25-6695del
SRSF11 transcript variant 1	NM_004768.5:c.-25-6696=	NM_004768.5:c.-25-6696_-25-6695del
SRSF11 transcript variant X1	XM_005271338.1:c.-22-6699=	XM_005271338.1:c.-22-6699_-22-6698del
SRSF11 transcript variant X2	XM_005271339.1:c.-25-6696=	XM_005271339.1:c.-25-6696_-25-6695del
SRSF11 transcript variant X3	XM_005271340.1:c.-22-6699=	XM_005271340.1:c.-22-6699_-22-6698del
SRSF11 transcript variant X4	XM_005271341.1:c.-22-6699=	XM_005271341.1:c.-22-6699_-22-6698del
SRSF11 transcript variant X6	XM_005271343.1:c.-720-6699=	XM_005271343.1:c.-720-6699_-720-6698del
SRSF11 transcript variant X7	XM_005271344.1:c.-1375-6699=	XM_005271344.1:c.-1375-6699_-1375-6698del
SRSF11 transcript variant X8	XM_005271345.1:c.-1473-6699=	XM_005271345.1:c.-1473-6699_-1473-6698del
SRSF11 transcript variant X1	XM_047434514.1:c.-5343-1378=	XM_047434514.1:c.-5343-1378_-5343-1377del
SRSF11 transcript variant X2	XM_047434516.1:c.-4140-1378=	XM_047434516.1:c.-4140-1378_-4140-1377del
SRSF11 transcript variant X3	XM_047434517.1:c.-4089-2632=	XM_047434517.1:c.-4089-2632_-4089-2631del
SRSF11 transcript variant X4	XM_047434518.1:c.-5343-1378=	XM_047434518.1:c.-5343-1378_-5343-1377del
SRSF11 transcript variant X5	XM_047434522.1:c.-25-6696=	XM_047434522.1:c.-25-6696_-25-6695del
SRSF11 transcript variant X6	XM_047434523.1:c.-5343-1378=	XM_047434523.1:c.-5343-1378_-5343-1377del
SRSF11 transcript variant X7	XM_047434524.1:c.-5343-1378=	XM_047434524.1:c.-5343-1378_-5343-1377del
SRSF11 transcript variant X10	XM_047434541.1:c.-5343-1378=	XM_047434541.1:c.-5343-1378_-5343-1377del

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#.

4 SubSNP, 4 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss2756337654	Jan 10, 2018 (151)
2	KOGIC	ss3944716320	Apr 25, 2020 (154)
3	TOMMO_GENOMICS	ss5144419341	Apr 25, 2021 (155)
4	TOMMO_GENOMICS	ss5669325523	Oct 12, 2022 (156)
5	Korean Genome Project	NC_000001.11 - 70214916	Apr 25, 2020 (154)
6	8.3KJPN	NC_000001.10 - 70680599	Apr 25, 2021 (155)
7	14KJPN	NC_000001.11 - 70214916	Oct 12, 2022 (156)
8	ALFA	NC_000001.11 - 70214916	Apr 25, 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
2388648, ss2756337654, ss5144419341	NC_000001.10:70680598:TG:	NC_000001.11:70214915:TG:	(self)
1094321, 3162627, 4383263357, ss3944716320, ss5669325523	NC_000001.11:70214915:TG:	NC_000001.11:70214915:TG:	(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 rs1491195771

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491195771