Name: rs397865981
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.

rs397865981

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:13293208-13293225 (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(A)₉ / del(A)₇ / del(A)₄ / delA…
del(A)₉ / del(A)₇ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₉=0.000008 (2/264690, TOPMED)
del(A)₉=0.0000 (0/8684, ALFA)
del(A)₇=0.0000 (0/8684, ALFA) (+ 5 more)
delAA=0.0000 (0/8684, ALFA)
delA=0.0000 (0/8684, ALFA)
dupA=0.0000 (0/8684, ALFA)
dupAA=0.0000 (0/8684, ALFA)
dupA=0.35 (14/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TASP1 : Intron Variant
ISM1 : 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	8684	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	6294	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	1470	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	60	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1410	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	88	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	66	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	22	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	80	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	418	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	48	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	286	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=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
TopMed	Global	Study-wide	264690	(A)₁₈=0.999992	del(A)₉=0.000008
Allele Frequency Aggregator	Total	Global	8684	(A)₁₈=1.0000	del(A)₉=0.0000, del(A)₇=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	European	Sub	6294	(A)₁₈=1.0000	del(A)₉=0.0000, del(A)₇=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	1470	(A)₁₈=1.0000	del(A)₉=0.0000, del(A)₇=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	418	(A)₁₈=1.000	del(A)₉=0.000, del(A)₇=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	286	(A)₁₈=1.000	del(A)₉=0.000, del(A)₇=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Asian	Sub	88	(A)₁₈=1.00	del(A)₉=0.00, del(A)₇=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	80	(A)₁₈=1.00	del(A)₉=0.00, del(A)₇=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	South Asian	Sub	48	(A)₁₈=1.00	del(A)₉=0.00, del(A)₇=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupA=0.35

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 20	NC_000020.11:g.13293217_13293225del
GRCh38.p14 chr 20	NC_000020.11:g.13293219_13293225del
GRCh38.p14 chr 20	NC_000020.11:g.13293222_13293225del
GRCh38.p14 chr 20	NC_000020.11:g.13293223_13293225del
GRCh38.p14 chr 20	NC_000020.11:g.13293224_13293225del
GRCh38.p14 chr 20	NC_000020.11:g.13293225del
GRCh38.p14 chr 20	NC_000020.11:g.13293225dup
GRCh38.p14 chr 20	NC_000020.11:g.13293224_13293225dup
GRCh37.p13 chr 20	NC_000020.10:g.13273864_13273872del
GRCh37.p13 chr 20	NC_000020.10:g.13273866_13273872del
GRCh37.p13 chr 20	NC_000020.10:g.13273869_13273872del
GRCh37.p13 chr 20	NC_000020.10:g.13273870_13273872del
GRCh37.p13 chr 20	NC_000020.10:g.13273871_13273872del
GRCh37.p13 chr 20	NC_000020.10:g.13273872del
GRCh37.p13 chr 20	NC_000020.10:g.13273872dup
GRCh37.p13 chr 20	NC_000020.10:g.13273871_13273872dup

Gene: ISM1, isthmin 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ISM1 transcript	NM_080826.2:c.877+754_877… NM_080826.2:c.877+754_877+762del	N/A	Intron Variant
ISM1 transcript variant X1	XM_017027680.2:c.877+754_… XM_017027680.2:c.877+754_877+762del	N/A	Intron Variant

Gene: TASP1, taspase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TASP1 transcript variant 2	NM_001323602.2:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 3	NM_001323603.2:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 4	NM_001323604.2:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 1	NM_017714.3:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 5	NR_136628.2:n.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 6	NR_136629.2:n.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 7	NR_136630.2:n.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 8	NR_136631.2:n.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X12	XM_017027929.3:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X14	XM_017027931.3:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X1	XM_047440267.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X2	XM_047440268.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X4	XM_047440269.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X6	XM_047440270.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X7	XM_047440271.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X8	XM_047440272.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X9	XM_047440273.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X10	XM_047440274.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X11	XM_047440275.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X13	XM_047440276.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X15	XM_047440277.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X5	XR_001754319.3:n.	N/A	Intron Variant
TASP1 transcript variant X3	XR_007067463.1:n.	N/A	Intron 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	(A)₁₈=	del(A)₉	del(A)₇	del(A)₄	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr 20	NC_000020.11:g.13293208_13293225=	NC_000020.11:g.13293217_13293225del	NC_000020.11:g.13293219_13293225del	NC_000020.11:g.13293222_13293225del	NC_000020.11:g.13293223_13293225del	NC_000020.11:g.13293224_13293225del	NC_000020.11:g.13293225del	NC_000020.11:g.13293225dup	NC_000020.11:g.13293224_13293225dup
GRCh37.p13 chr 20	NC_000020.10:g.13273855_13273872=	NC_000020.10:g.13273864_13273872del	NC_000020.10:g.13273866_13273872del	NC_000020.10:g.13273869_13273872del	NC_000020.10:g.13273870_13273872del	NC_000020.10:g.13273871_13273872del	NC_000020.10:g.13273872del	NC_000020.10:g.13273872dup	NC_000020.10:g.13273871_13273872dup
ISM1 transcript	NM_080826.1:c.877+745=	NM_080826.1:c.877+754_877+762del	NM_080826.1:c.877+756_877+762del	NM_080826.1:c.877+759_877+762del	NM_080826.1:c.877+760_877+762del	NM_080826.1:c.877+761_877+762del	NM_080826.1:c.877+762del	NM_080826.1:c.877+762dup	NM_080826.1:c.877+761_877+762dup
ISM1 transcript	NM_080826.2:c.877+745=	NM_080826.2:c.877+754_877+762del	NM_080826.2:c.877+756_877+762del	NM_080826.2:c.877+759_877+762del	NM_080826.2:c.877+760_877+762del	NM_080826.2:c.877+761_877+762del	NM_080826.2:c.877+762del	NM_080826.2:c.877+762dup	NM_080826.2:c.877+761_877+762dup
ISM1 transcript variant X1	XM_017027680.2:c.877+745=	XM_017027680.2:c.877+754_877+762del	XM_017027680.2:c.877+756_877+762del	XM_017027680.2:c.877+759_877+762del	XM_017027680.2:c.877+760_877+762del	XM_017027680.2:c.877+761_877+762del	XM_017027680.2:c.877+762del	XM_017027680.2:c.877+762dup	XM_017027680.2:c.877+761_877+762dup

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#.

41 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41428147	Dec 03, 2013 (138)
2	SSIP	ss947400521	Oct 12, 2018 (152)
3	EVA_GENOME_DK	ss1575679841	Apr 01, 2015 (144)
4	MCHAISSO	ss3065808894	Nov 08, 2017 (151)
5	EVA_DECODE	ss3706601858	Jul 13, 2019 (153)
6	EVA_DECODE	ss3706601859	Jul 13, 2019 (153)
7	EVA_DECODE	ss3706601860	Jul 13, 2019 (153)
8	EVA_DECODE	ss3706601861	Jul 13, 2019 (153)
9	EVA_DECODE	ss3706601862	Jul 13, 2019 (153)
10	EVA_DECODE	ss3706601863	Jul 13, 2019 (153)
11	ACPOP	ss3743268439	Jul 13, 2019 (153)
12	ACPOP	ss3743268440	Jul 13, 2019 (153)
13	PACBIO	ss3788605531	Jul 13, 2019 (153)
14	PACBIO	ss3793504970	Jul 13, 2019 (153)
15	PACBIO	ss3798392132	Jul 13, 2019 (153)
16	EVA	ss3835599748	Apr 27, 2020 (154)
17	KOGIC	ss3981862149	Apr 27, 2020 (154)
18	KOGIC	ss3981862150	Apr 27, 2020 (154)
19	GNOMAD	ss4335432737	Apr 26, 2021 (155)
20	GNOMAD	ss4335432738	Apr 26, 2021 (155)
21	GNOMAD	ss4335432739	Apr 26, 2021 (155)
22	GNOMAD	ss4335432740	Apr 26, 2021 (155)
23	GNOMAD	ss4335432741	Apr 26, 2021 (155)
24	GNOMAD	ss4335432742	Apr 26, 2021 (155)
25	GNOMAD	ss4335432743	Apr 26, 2021 (155)
26	GNOMAD	ss4335432744	Apr 26, 2021 (155)
27	TOPMED	ss5083018128	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5228934444	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5228934445	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5228934446	Apr 26, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5308160052	Oct 13, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5308160053	Oct 13, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5308160054	Oct 13, 2022 (156)
34	HUGCELL_USP	ss5500553255	Oct 13, 2022 (156)
35	HUGCELL_USP	ss5500553257	Oct 13, 2022 (156)
36	HUGCELL_USP	ss5500553258	Oct 13, 2022 (156)
37	HUGCELL_USP	ss5500553259	Oct 13, 2022 (156)
38	TOMMO_GENOMICS	ss5787947621	Oct 13, 2022 (156)
39	TOMMO_GENOMICS	ss5787947622	Oct 13, 2022 (156)
40	TOMMO_GENOMICS	ss5787947624	Oct 13, 2022 (156)
41	EVA	ss5853078631	Oct 13, 2022 (156)
42	The Danish reference pan genome	NC_000020.10 - 13273855	Apr 27, 2020 (154)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547094812 (NC_000020.11:13293207::A 20804/80228) Row 547094813 (NC_000020.11:13293207::AA 273/80518) Row 547094814 (NC_000020.11:13293207:A: 9400/80534)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547094812 (NC_000020.11:13293207::A 20804/80228) Row 547094813 (NC_000020.11:13293207::AA 273/80518) Row 547094814 (NC_000020.11:13293207:A: 9400/80534)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547094812 (NC_000020.11:13293207::A 20804/80228) Row 547094813 (NC_000020.11:13293207::AA 273/80518) Row 547094814 (NC_000020.11:13293207:A: 9400/80534)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547094812 (NC_000020.11:13293207::A 20804/80228) Row 547094813 (NC_000020.11:13293207::AA 273/80518) Row 547094814 (NC_000020.11:13293207:A: 9400/80534)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547094812 (NC_000020.11:13293207::A 20804/80228) Row 547094813 (NC_000020.11:13293207::AA 273/80518) Row 547094814 (NC_000020.11:13293207:A: 9400/80534)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547094812 (NC_000020.11:13293207::A 20804/80228) Row 547094813 (NC_000020.11:13293207::AA 273/80518) Row 547094814 (NC_000020.11:13293207:A: 9400/80534)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547094812 (NC_000020.11:13293207::A 20804/80228) Row 547094813 (NC_000020.11:13293207::AA 273/80518) Row 547094814 (NC_000020.11:13293207:A: 9400/80534)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547094812 (NC_000020.11:13293207::A 20804/80228) Row 547094813 (NC_000020.11:13293207::AA 273/80518) Row 547094814 (NC_000020.11:13293207:A: 9400/80534)...	-	Apr 26, 2021 (155)
51	Korean Genome Project Submission ignored due to conflicting rows: Row 38240150 (NC_000020.11:13293207:A: 341/1812) Row 38240151 (NC_000020.11:13293208::A 156/1812)	-	Apr 27, 2020 (154)
52	Korean Genome Project Submission ignored due to conflicting rows: Row 38240150 (NC_000020.11:13293207:A: 341/1812) Row 38240151 (NC_000020.11:13293208::A 156/1812)	-	Apr 27, 2020 (154)
53	Northern Sweden Submission ignored due to conflicting rows: Row 16553304 (NC_000020.10:13273854::A 72/526) Row 16553305 (NC_000020.10:13273854:A: 9/526)	-	Jul 13, 2019 (153)
54	Northern Sweden Submission ignored due to conflicting rows: Row 16553304 (NC_000020.10:13273854::A 72/526) Row 16553305 (NC_000020.10:13273854:A: 9/526)	-	Jul 13, 2019 (153)
55	8.3KJPN Submission ignored due to conflicting rows: Row 86903751 (NC_000020.10:13273854:A: 1881/16750) Row 86903752 (NC_000020.10:13273854::A 153/16750) Row 86903753 (NC_000020.10:13273854::AA 3/16750)	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 86903751 (NC_000020.10:13273854:A: 1881/16750) Row 86903752 (NC_000020.10:13273854::A 153/16750) Row 86903753 (NC_000020.10:13273854::AA 3/16750)	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 86903751 (NC_000020.10:13273854:A: 1881/16750) Row 86903752 (NC_000020.10:13273854::A 153/16750) Row 86903753 (NC_000020.10:13273854::AA 3/16750)	-	Apr 26, 2021 (155)
58	14KJPN Submission ignored due to conflicting rows: Row 121784725 (NC_000020.11:13293207:A: 3238/28256) Row 121784726 (NC_000020.11:13293207::A 259/28256) Row 121784728 (NC_000020.11:13293207::AA 3/28256)	-	Oct 13, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 121784725 (NC_000020.11:13293207:A: 3238/28256) Row 121784726 (NC_000020.11:13293207::A 259/28256) Row 121784728 (NC_000020.11:13293207::AA 3/28256)	-	Oct 13, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 121784725 (NC_000020.11:13293207:A: 3238/28256) Row 121784726 (NC_000020.11:13293207::A 259/28256) Row 121784728 (NC_000020.11:13293207::AA 3/28256)	-	Oct 13, 2022 (156)
61	TopMed	NC_000020.11 - 13293208	Apr 26, 2021 (155)
62	ALFA	NC_000020.11 - 13293208	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
358127073, ss4335432744, ss5083018128	NC_000020.11:13293207:AAAAAAAAA:	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
9198637089	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4335432743	NC_000020.11:13293207:AAAAAAA:	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
9198637089	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3706601863, ss4335432742	NC_000020.11:13293207:AAAA:	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4335432741	NC_000020.11:13293207:AAA:	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3706601862	NC_000020.11:13293208:AAA:	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4335432740, ss5500553259	NC_000020.11:13293207:AA:	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
9198637089	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3706601861	NC_000020.11:13293209:AA:	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3743268440, ss5228934444	NC_000020.10:13273854:A:	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3065808894, ss3981862149, ss4335432739, ss5308160052, ss5500553255, ss5787947621, ss5853078631	NC_000020.11:13293207:A:	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
9198637089	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3706601860	NC_000020.11:13293210:A:	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
750287, ss1575679841, ss3743268439, ss3788605531, ss3793504970, ss3798392132, ss3835599748, ss5228934445	NC_000020.10:13273854::A	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss947400521	NC_000020.10:13273855::A	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4335432737, ss5308160053, ss5500553257, ss5787947622	NC_000020.11:13293207::A	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
9198637089	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3981862150	NC_000020.11:13293208::A	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3706601859	NC_000020.11:13293211::A	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss41428147	NT_011387.8:13213872::A	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5228934446	NC_000020.10:13273854::AA	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4335432738, ss5308160054, ss5500553258, ss5787947624	NC_000020.11:13293207::AA	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
9198637089	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3706601858	NC_000020.11:13293211::AA	NC_000020.11:13293207:AAAAAAAAAAAA… NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(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 rs397865981

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

rs397865981