Name: rs75997148
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.

rs75997148

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:89111110-89111125 (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)₄ / delTTT / delTT / delT / …
del(T)₄ / delTTT / delTT / delT / dupT / dupTT
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₄=0.000015 (4/264690, TOPMED)
dupT=0.00064 (18/28256, 14KJPN)
del(T)₄=0.00000 (0/13700, ALFA) (+ 5 more)
delTT=0.00000 (0/13700, ALFA)
delT=0.00000 (0/13700, ALFA)
dupT=0.00000 (0/13700, ALFA)
dupTT=0.00000 (0/13700, ALFA)
dupT=0.20 (8/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PM20D2 : Intron Variant
SRSF12 : 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	13700	TTTTTTTTTTTTTTTT=1.00000	TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000	1.0	N/A
European	Sub	9404	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	2860	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	114	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
African American	Sub	2746	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	112	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
East Asian	Sub	86	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	26	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	146	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
Latin American 2	Sub	598	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	94	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	486	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(T)₁₆=0.999985	del(T)₄=0.000015
14KJPN	JAPANESE	Study-wide	28256	- No frequency provided	dupT=0.00064
Allele Frequency Aggregator	Total	Global	13700	(T)₁₆=1.00000	del(T)₄=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00000, dupTT=0.00000
Allele Frequency Aggregator	European	Sub	9404	(T)₁₆=1.0000	del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	African	Sub	2860	(T)₁₆=1.0000	del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	598	(T)₁₆=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	486	(T)₁₆=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(T)₁₆=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Asian	Sub	112	(T)₁₆=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(T)₁₆=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.20

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 6	NC_000006.12:g.89111122_89111125del
GRCh38.p14 chr 6	NC_000006.12:g.89111123_89111125del
GRCh38.p14 chr 6	NC_000006.12:g.89111124_89111125del
GRCh38.p14 chr 6	NC_000006.12:g.89111125del
GRCh38.p14 chr 6	NC_000006.12:g.89111125dup
GRCh38.p14 chr 6	NC_000006.12:g.89111124_89111125dup
GRCh37.p13 chr 6	NC_000006.11:g.89820841_89820844del
GRCh37.p13 chr 6	NC_000006.11:g.89820842_89820844del
GRCh37.p13 chr 6	NC_000006.11:g.89820843_89820844del
GRCh37.p13 chr 6	NC_000006.11:g.89820844del
GRCh37.p13 chr 6	NC_000006.11:g.89820844dup
GRCh37.p13 chr 6	NC_000006.11:g.89820843_89820844dup

Gene: SRSF12, serine and arginine rich splicing factor 12 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SRSF12 transcript variant 2	NM_001376896.1:c.-482-408… NM_001376896.1:c.-482-4086_-482-4083del	N/A	Intron Variant
SRSF12 transcript variant 3	NM_001376897.1:c.-479-408… NM_001376897.1:c.-479-4089_-479-4086del	N/A	Intron Variant
SRSF12 transcript variant 4	NM_001376898.1:c.-470-408… NM_001376898.1:c.-470-4086_-470-4083del	N/A	Intron Variant
SRSF12 transcript variant 1	NM_080743.5:c.66-3855_66-… NM_080743.5:c.66-3855_66-3852del	N/A	Intron Variant
SRSF12 transcript variant X1	XM_011535483.3:c.21-3855_… XM_011535483.3:c.21-3855_21-3852del	N/A	Intron Variant
SRSF12 transcript variant X2	XM_047418223.1:c.-234-432… XM_047418223.1:c.-234-4322_-234-4319del	N/A	Intron Variant
SRSF12 transcript variant X3	XM_047418224.1:c.	N/A	Genic Upstream Transcript Variant

Gene: PM20D2, peptidase M20 domain containing 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PM20D2 transcript	NM_001010853.3:c.	N/A	Genic Upstream Transcript Variant
PM20D2 transcript variant X6	XM_011535481.4:c.-94+1345… XM_011535481.4:c.-94+13452_-94+13455del	N/A	Intron Variant
PM20D2 transcript variant X4	XM_047418220.1:c.-834+134… XM_047418220.1:c.-834+13452_-834+13455del	N/A	Intron Variant
PM20D2 transcript variant X5	XM_047418221.1:c.-144+134… XM_047418221.1:c.-144+13452_-144+13455del	N/A	Intron Variant
PM20D2 transcript variant X3	XM_005248662.5:c.	N/A	Genic Upstream Transcript Variant
PM20D2 transcript variant X1	XM_017010289.2:c.	N/A	Genic Upstream Transcript Variant
PM20D2 transcript variant X2	XM_047418219.1:c.	N/A	Genic Upstream Transcript Variant
PM20D2 transcript variant X7	XR_007059208.1:n.	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)₁₆=	del(T)₄	delTTT	delTT	delT	dupT	dupTT
GRCh38.p14 chr 6	NC_000006.12:g.89111110_89111125=	NC_000006.12:g.89111122_89111125del	NC_000006.12:g.89111123_89111125del	NC_000006.12:g.89111124_89111125del	NC_000006.12:g.89111125del	NC_000006.12:g.89111125dup	NC_000006.12:g.89111124_89111125dup
GRCh37.p13 chr 6	NC_000006.11:g.89820829_89820844=	NC_000006.11:g.89820841_89820844del	NC_000006.11:g.89820842_89820844del	NC_000006.11:g.89820843_89820844del	NC_000006.11:g.89820844del	NC_000006.11:g.89820844dup	NC_000006.11:g.89820843_89820844dup
SRSF12 transcript variant 2	NM_001376896.1:c.-482-4083=	NM_001376896.1:c.-482-4086_-482-4083del	NM_001376896.1:c.-482-4085_-482-4083del	NM_001376896.1:c.-482-4084_-482-4083del	NM_001376896.1:c.-482-4083del	NM_001376896.1:c.-482-4083dup	NM_001376896.1:c.-482-4084_-482-4083dup
SRSF12 transcript variant 3	NM_001376897.1:c.-479-4086=	NM_001376897.1:c.-479-4089_-479-4086del	NM_001376897.1:c.-479-4088_-479-4086del	NM_001376897.1:c.-479-4087_-479-4086del	NM_001376897.1:c.-479-4086del	NM_001376897.1:c.-479-4086dup	NM_001376897.1:c.-479-4087_-479-4086dup
SRSF12 transcript variant 4	NM_001376898.1:c.-470-4083=	NM_001376898.1:c.-470-4086_-470-4083del	NM_001376898.1:c.-470-4085_-470-4083del	NM_001376898.1:c.-470-4084_-470-4083del	NM_001376898.1:c.-470-4083del	NM_001376898.1:c.-470-4083dup	NM_001376898.1:c.-470-4084_-470-4083dup
SRSF12 transcript	NM_080743.4:c.66-3852=	NM_080743.4:c.66-3855_66-3852del	NM_080743.4:c.66-3854_66-3852del	NM_080743.4:c.66-3853_66-3852del	NM_080743.4:c.66-3852del	NM_080743.4:c.66-3852dup	NM_080743.4:c.66-3853_66-3852dup
SRSF12 transcript variant 1	NM_080743.5:c.66-3852=	NM_080743.5:c.66-3855_66-3852del	NM_080743.5:c.66-3854_66-3852del	NM_080743.5:c.66-3853_66-3852del	NM_080743.5:c.66-3852del	NM_080743.5:c.66-3852dup	NM_080743.5:c.66-3853_66-3852dup
PM20D2 transcript variant X6	XM_011535481.4:c.-94+13440=	XM_011535481.4:c.-94+13452_-94+13455del	XM_011535481.4:c.-94+13453_-94+13455del	XM_011535481.4:c.-94+13454_-94+13455del	XM_011535481.4:c.-94+13455del	XM_011535481.4:c.-94+13455dup	XM_011535481.4:c.-94+13454_-94+13455dup
SRSF12 transcript variant X1	XM_011535483.3:c.21-3852=	XM_011535483.3:c.21-3855_21-3852del	XM_011535483.3:c.21-3854_21-3852del	XM_011535483.3:c.21-3853_21-3852del	XM_011535483.3:c.21-3852del	XM_011535483.3:c.21-3852dup	XM_011535483.3:c.21-3853_21-3852dup
PM20D2 transcript variant X4	XM_047418220.1:c.-834+13440=	XM_047418220.1:c.-834+13452_-834+13455del	XM_047418220.1:c.-834+13453_-834+13455del	XM_047418220.1:c.-834+13454_-834+13455del	XM_047418220.1:c.-834+13455del	XM_047418220.1:c.-834+13455dup	XM_047418220.1:c.-834+13454_-834+13455dup
PM20D2 transcript variant X5	XM_047418221.1:c.-144+13440=	XM_047418221.1:c.-144+13452_-144+13455del	XM_047418221.1:c.-144+13453_-144+13455del	XM_047418221.1:c.-144+13454_-144+13455del	XM_047418221.1:c.-144+13455del	XM_047418221.1:c.-144+13455dup	XM_047418221.1:c.-144+13454_-144+13455dup
SRSF12 transcript variant X2	XM_047418223.1:c.-234-4319=	XM_047418223.1:c.-234-4322_-234-4319del	XM_047418223.1:c.-234-4321_-234-4319del	XM_047418223.1:c.-234-4320_-234-4319del	XM_047418223.1:c.-234-4319del	XM_047418223.1:c.-234-4319dup	XM_047418223.1:c.-234-4320_-234-4319dup

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#.

20 SubSNP, 12 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss103734476	Dec 01, 2009 (131)
2	EVA_GENOME_DK	ss1576807181	Apr 01, 2015 (144)
3	SWEGEN	ss2999515090	Nov 08, 2017 (151)
4	PACBIO	ss3790888555	Jul 13, 2019 (153)
5	PACBIO	ss3795767721	Jul 13, 2019 (153)
6	GNOMAD	ss4146479718	Apr 26, 2021 (155)
7	GNOMAD	ss4146479719	Apr 26, 2021 (155)
8	GNOMAD	ss4146479720	Apr 26, 2021 (155)
9	GNOMAD	ss4146479721	Apr 26, 2021 (155)
10	GNOMAD	ss4146479722	Apr 26, 2021 (155)
11	GNOMAD	ss4146479723	Apr 26, 2021 (155)
12	TOPMED	ss4712246008	Apr 26, 2021 (155)
13	TOMMO_GENOMICS	ss5178702912	Apr 26, 2021 (155)
14	TOMMO_GENOMICS	ss5178702913	Apr 26, 2021 (155)
15	1000G_HIGH_COVERAGE	ss5269391721	Oct 14, 2022 (156)
16	1000G_HIGH_COVERAGE	ss5269391722	Oct 14, 2022 (156)
17	HUGCELL_USP	ss5466926301	Oct 14, 2022 (156)
18	HUGCELL_USP	ss5466926302	Oct 14, 2022 (156)
19	TOMMO_GENOMICS	ss5717227991	Oct 14, 2022 (156)
20	YY_MCH	ss5807717522	Oct 14, 2022 (156)
21	The Danish reference pan genome	NC_000006.11 - 89820829	Apr 26, 2020 (154)
22	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233028601 (NC_000006.12:89111109::T 271/109996) Row 233028602 (NC_000006.12:89111109::TT 1/110026) Row 233028604 (NC_000006.12:89111109:T: 1777/109970)...	-	Apr 26, 2021 (155)
23	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233028601 (NC_000006.12:89111109::T 271/109996) Row 233028602 (NC_000006.12:89111109::TT 1/110026) Row 233028604 (NC_000006.12:89111109:T: 1777/109970)...	-	Apr 26, 2021 (155)
24	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233028601 (NC_000006.12:89111109::T 271/109996) Row 233028602 (NC_000006.12:89111109::TT 1/110026) Row 233028604 (NC_000006.12:89111109:T: 1777/109970)...	-	Apr 26, 2021 (155)
25	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233028601 (NC_000006.12:89111109::T 271/109996) Row 233028602 (NC_000006.12:89111109::TT 1/110026) Row 233028604 (NC_000006.12:89111109:T: 1777/109970)...	-	Apr 26, 2021 (155)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233028601 (NC_000006.12:89111109::T 271/109996) Row 233028602 (NC_000006.12:89111109::TT 1/110026) Row 233028604 (NC_000006.12:89111109:T: 1777/109970)...	-	Apr 26, 2021 (155)
27	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233028601 (NC_000006.12:89111109::T 271/109996) Row 233028602 (NC_000006.12:89111109::TT 1/110026) Row 233028604 (NC_000006.12:89111109:T: 1777/109970)...	-	Apr 26, 2021 (155)
28	8.3KJPN Submission ignored due to conflicting rows: Row 36672219 (NC_000006.11:89820828:T: 18/16758) Row 36672220 (NC_000006.11:89820828::T 13/16758)	-	Apr 26, 2021 (155)
29	8.3KJPN Submission ignored due to conflicting rows: Row 36672219 (NC_000006.11:89820828:T: 18/16758) Row 36672220 (NC_000006.11:89820828::T 13/16758)	-	Apr 26, 2021 (155)
30	14KJPN	NC_000006.12 - 89111110	Oct 14, 2022 (156)
31	TopMed	NC_000006.12 - 89111110	Apr 26, 2021 (155)
32	ALFA	NC_000006.12 - 89111110	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
549623566, ss4146479723, ss4712246008	NC_000006.12:89111109:TTTT:	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
13731903753	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4146479722	NC_000006.12:89111109:TTT:	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss103734476	NT_007299.13:27940675:TTT:	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4146479721	NC_000006.12:89111109:TT:	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
13731903753	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss2999515090, ss3790888555, ss3795767721, ss5178702912	NC_000006.11:89820828:T:	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4146479720, ss5269391722, ss5466926302	NC_000006.12:89111109:T:	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
13731903753	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
1091347, ss1576807181, ss5178702913	NC_000006.11:89820828::T	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
51065095, ss4146479718, ss5269391721, ss5466926301, ss5717227991, ss5807717522	NC_000006.12:89111109::T	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
13731903753	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4146479719	NC_000006.12:89111109::TT	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
13731903753	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000006.12:89111109:TTTTTTTTTTTT… NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(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 rs75997148

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

rs75997148