Name: rs57992789
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.

rs57992789

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:995354-995369 (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)₄ / delAAA / delAA / delA / …
del(A)₄ / delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.00039 (7/17983, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: IDUA : Intron Variant
SLC26A1 : 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	HTRZ	HWEP
Total	Global	17983	AAAAAAAAAAAAAAAA=0.99939	AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00022, AAAAAAAAAAAAAAAAA=0.00039, AAAAAAAAAAAAAAAAAA=0.00000	0.99922	0.00078	0
European	Sub	14005	AAAAAAAAAAAAAAAA=0.99921	AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00029, AAAAAAAAAAAAAAAAA=0.00050, AAAAAAAAAAAAAAAAAA=0.00000	0.998998	0.001002	0
African	Sub	2560	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	N/A
African Others	Sub	98	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
African American	Sub	2462	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	N/A
Asian	Sub	110	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
East Asian	Sub	84	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
Other Asian	Sub	26	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
Latin American 1	Sub	132	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
Latin American 2	Sub	592	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
South Asian	Sub	94	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
Other	Sub	490	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	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
Allele Frequency Aggregator	Total	Global	17983	(A)₁₆=0.99939	del(A)₄=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00022, dupA=0.00039, dupAA=0.00000
Allele Frequency Aggregator	European	Sub	14005	(A)₁₆=0.99921	del(A)₄=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00029, dupA=0.00050, dupAA=0.00000
Allele Frequency Aggregator	African	Sub	2560	(A)₁₆=1.0000	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	592	(A)₁₆=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	490	(A)₁₆=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	132	(A)₁₆=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Asian	Sub	110	(A)₁₆=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(A)₁₆=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00

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 4	NC_000004.12:g.995366_995369del
GRCh38.p14 chr 4	NC_000004.12:g.995367_995369del
GRCh38.p14 chr 4	NC_000004.12:g.995368_995369del
GRCh38.p14 chr 4	NC_000004.12:g.995369del
GRCh38.p14 chr 4	NC_000004.12:g.995369dup
GRCh38.p14 chr 4	NC_000004.12:g.995368_995369dup
GRCh37.p13 chr 4	NC_000004.11:g.989154_989157del
GRCh37.p13 chr 4	NC_000004.11:g.989155_989157del
GRCh37.p13 chr 4	NC_000004.11:g.989156_989157del
GRCh37.p13 chr 4	NC_000004.11:g.989157del
GRCh37.p13 chr 4	NC_000004.11:g.989157dup
GRCh37.p13 chr 4	NC_000004.11:g.989156_989157dup
IDUA RefSeqGene (LRG_1277)	NG_008103.1:g.13370_13373del
IDUA RefSeqGene (LRG_1277)	NG_008103.1:g.13371_13373del
IDUA RefSeqGene (LRG_1277)	NG_008103.1:g.13372_13373del
IDUA RefSeqGene (LRG_1277)	NG_008103.1:g.13373del
IDUA RefSeqGene (LRG_1277)	NG_008103.1:g.13373dup
IDUA RefSeqGene (LRG_1277)	NG_008103.1:g.13372_13373dup
SLC26A1 RefSeqGene	NG_033042.1:g.3080_3083del
SLC26A1 RefSeqGene	NG_033042.1:g.3081_3083del
SLC26A1 RefSeqGene	NG_033042.1:g.3082_3083del
SLC26A1 RefSeqGene	NG_033042.1:g.3083del
SLC26A1 RefSeqGene	NG_033042.1:g.3083dup
SLC26A1 RefSeqGene	NG_033042.1:g.3082_3083dup

Gene: IDUA, alpha-L-iduronidase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IDUA transcript variant 1	NM_000203.5:c.300-5246_30… NM_000203.5:c.300-5246_300-5243del	N/A	Intron Variant
IDUA transcript variant 3	NM_001363576.1:c.	N/A	Genic Upstream Transcript Variant
IDUA transcript variant 2	NR_110313.1:n.	N/A	Intron Variant
IDUA transcript variant X4	XM_011513461.3:c.92+3136_… XM_011513461.3:c.92+3136_92+3139del	N/A	Intron Variant
IDUA transcript variant X1	XM_047415648.1:c.300-5246… XM_047415648.1:c.300-5246_300-5243del	N/A	Intron Variant
IDUA transcript variant X2	XM_047415649.1:c.300-5246… XM_047415649.1:c.300-5246_300-5243del	N/A	Intron Variant
IDUA transcript variant X3	XM_047415650.1:c.300-5246… XM_047415650.1:c.300-5246_300-5243del	N/A	Intron Variant
IDUA transcript variant X5	XM_047415651.1:c.191+3426… XM_047415651.1:c.191+3426_191+3429del	N/A	Intron Variant
IDUA transcript variant X6	XM_047415652.1:c.	N/A	Genic Upstream Transcript Variant

Gene: SLC26A1, solute carrier family 26 member 1 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
SLC26A1 transcript variant 1	NM_022042.4:c.	N/A	Upstream Transcript Variant
SLC26A1 transcript variant 2	NM_134425.4:c.	N/A	Upstream Transcript Variant
SLC26A1 transcript variant 3	NM_213613.4:c.	N/A	Upstream Transcript Variant
SLC26A1 transcript variant X1	XR_007096347.1:n.	N/A	N/A

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)₁₆=	del(A)₄	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr 4	NC_000004.12:g.995354_995369=	NC_000004.12:g.995366_995369del	NC_000004.12:g.995367_995369del	NC_000004.12:g.995368_995369del	NC_000004.12:g.995369del	NC_000004.12:g.995369dup	NC_000004.12:g.995368_995369dup
GRCh37.p13 chr 4	NC_000004.11:g.989142_989157=	NC_000004.11:g.989154_989157del	NC_000004.11:g.989155_989157del	NC_000004.11:g.989156_989157del	NC_000004.11:g.989157del	NC_000004.11:g.989157dup	NC_000004.11:g.989156_989157dup
IDUA RefSeqGene (LRG_1277)	NG_008103.1:g.13358_13373=	NG_008103.1:g.13370_13373del	NG_008103.1:g.13371_13373del	NG_008103.1:g.13372_13373del	NG_008103.1:g.13373del	NG_008103.1:g.13373dup	NG_008103.1:g.13372_13373dup
SLC26A1 RefSeqGene	NG_033042.1:g.3068_3083=	NG_033042.1:g.3080_3083del	NG_033042.1:g.3081_3083del	NG_033042.1:g.3082_3083del	NG_033042.1:g.3083del	NG_033042.1:g.3083dup	NG_033042.1:g.3082_3083dup
IDUA transcript	NM_000203.3:c.300-5258=	NM_000203.3:c.300-5246_300-5243del	NM_000203.3:c.300-5245_300-5243del	NM_000203.3:c.300-5244_300-5243del	NM_000203.3:c.300-5243del	NM_000203.3:c.300-5243dup	NM_000203.3:c.300-5244_300-5243dup
IDUA transcript variant 1	NM_000203.5:c.300-5258=	NM_000203.5:c.300-5246_300-5243del	NM_000203.5:c.300-5245_300-5243del	NM_000203.5:c.300-5244_300-5243del	NM_000203.5:c.300-5243del	NM_000203.5:c.300-5243dup	NM_000203.5:c.300-5244_300-5243dup
IDUA transcript variant X1	XM_005272276.1:c.159-5258=	XM_005272276.1:c.159-5246_159-5243del	XM_005272276.1:c.159-5245_159-5243del	XM_005272276.1:c.159-5244_159-5243del	XM_005272276.1:c.159-5243del	XM_005272276.1:c.159-5243dup	XM_005272276.1:c.159-5244_159-5243dup
IDUA transcript variant X4	XM_011513461.3:c.92+3124=	XM_011513461.3:c.92+3136_92+3139del	XM_011513461.3:c.92+3137_92+3139del	XM_011513461.3:c.92+3138_92+3139del	XM_011513461.3:c.92+3139del	XM_011513461.3:c.92+3139dup	XM_011513461.3:c.92+3138_92+3139dup
IDUA transcript variant X1	XM_047415648.1:c.300-5258=	XM_047415648.1:c.300-5246_300-5243del	XM_047415648.1:c.300-5245_300-5243del	XM_047415648.1:c.300-5244_300-5243del	XM_047415648.1:c.300-5243del	XM_047415648.1:c.300-5243dup	XM_047415648.1:c.300-5244_300-5243dup
IDUA transcript variant X2	XM_047415649.1:c.300-5258=	XM_047415649.1:c.300-5246_300-5243del	XM_047415649.1:c.300-5245_300-5243del	XM_047415649.1:c.300-5244_300-5243del	XM_047415649.1:c.300-5243del	XM_047415649.1:c.300-5243dup	XM_047415649.1:c.300-5244_300-5243dup
IDUA transcript variant X3	XM_047415650.1:c.300-5258=	XM_047415650.1:c.300-5246_300-5243del	XM_047415650.1:c.300-5245_300-5243del	XM_047415650.1:c.300-5244_300-5243del	XM_047415650.1:c.300-5243del	XM_047415650.1:c.300-5243dup	XM_047415650.1:c.300-5244_300-5243dup
IDUA transcript variant X5	XM_047415651.1:c.191+3414=	XM_047415651.1:c.191+3426_191+3429del	XM_047415651.1:c.191+3427_191+3429del	XM_047415651.1:c.191+3428_191+3429del	XM_047415651.1:c.191+3429del	XM_047415651.1:c.191+3429dup	XM_047415651.1:c.191+3428_191+3429dup

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#.

24 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82172791	Dec 03, 2013 (138)
2	HGSV	ss82226847	Dec 04, 2013 (138)
3	HGSV	ss82307008	Dec 04, 2013 (138)
4	PJP	ss295149372	May 09, 2011 (137)
5	HAMMER_LAB	ss1800783547	Sep 08, 2015 (146)
6	SWEGEN	ss2993983005	Nov 08, 2017 (151)
7	GNOMAD	ss4089166513	Apr 26, 2021 (155)
8	GNOMAD	ss4089166514	Apr 26, 2021 (155)
9	GNOMAD	ss4089166515	Apr 26, 2021 (155)
10	GNOMAD	ss4089166516	Apr 26, 2021 (155)
11	GNOMAD	ss4089166517	Apr 26, 2021 (155)
12	TOMMO_GENOMICS	ss5163789151	Apr 26, 2021 (155)
13	TOMMO_GENOMICS	ss5163789152	Apr 26, 2021 (155)
14	TOMMO_GENOMICS	ss5163789153	Apr 26, 2021 (155)
15	1000G_HIGH_COVERAGE	ss5257721138	Oct 17, 2022 (156)
16	1000G_HIGH_COVERAGE	ss5257721139	Oct 17, 2022 (156)
17	1000G_HIGH_COVERAGE	ss5257721140	Oct 17, 2022 (156)
18	HUGCELL_USP	ss5456679116	Oct 17, 2022 (156)
19	HUGCELL_USP	ss5456679117	Oct 17, 2022 (156)
20	TOMMO_GENOMICS	ss5697313714	Oct 17, 2022 (156)
21	TOMMO_GENOMICS	ss5697313715	Oct 17, 2022 (156)
22	TOMMO_GENOMICS	ss5697313716	Oct 17, 2022 (156)
23	TOMMO_GENOMICS	ss5697313717	Oct 17, 2022 (156)
24	EVA	ss5854043898	Oct 17, 2022 (156)
25	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137744380 (NC_000004.12:995353::A 896/127080) Row 137744381 (NC_000004.12:995353::AA 3/127216) Row 137744382 (NC_000004.12:995353:A: 2676/126902)...	-	Apr 26, 2021 (155)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137744380 (NC_000004.12:995353::A 896/127080) Row 137744381 (NC_000004.12:995353::AA 3/127216) Row 137744382 (NC_000004.12:995353:A: 2676/126902)...	-	Apr 26, 2021 (155)
27	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137744380 (NC_000004.12:995353::A 896/127080) Row 137744381 (NC_000004.12:995353::AA 3/127216) Row 137744382 (NC_000004.12:995353:A: 2676/126902)...	-	Apr 26, 2021 (155)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137744380 (NC_000004.12:995353::A 896/127080) Row 137744381 (NC_000004.12:995353::AA 3/127216) Row 137744382 (NC_000004.12:995353:A: 2676/126902)...	-	Apr 26, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137744380 (NC_000004.12:995353::A 896/127080) Row 137744381 (NC_000004.12:995353::AA 3/127216) Row 137744382 (NC_000004.12:995353:A: 2676/126902)...	-	Apr 26, 2021 (155)
30	8.3KJPN Submission ignored due to conflicting rows: Row 21758458 (NC_000004.11:989141:A: 251/16758) Row 21758459 (NC_000004.11:989141::A 284/16758) Row 21758460 (NC_000004.11:989141:AAA: 3/16758)	-	Apr 26, 2021 (155)
31	8.3KJPN Submission ignored due to conflicting rows: Row 21758458 (NC_000004.11:989141:A: 251/16758) Row 21758459 (NC_000004.11:989141::A 284/16758) Row 21758460 (NC_000004.11:989141:AAA: 3/16758)	-	Apr 26, 2021 (155)
32	8.3KJPN Submission ignored due to conflicting rows: Row 21758458 (NC_000004.11:989141:A: 251/16758) Row 21758459 (NC_000004.11:989141::A 284/16758) Row 21758460 (NC_000004.11:989141:AAA: 3/16758)	-	Apr 26, 2021 (155)
33	14KJPN Submission ignored due to conflicting rows: Row 31150818 (NC_000004.12:995353::A 448/28258) Row 31150819 (NC_000004.12:995353:A: 427/28258) Row 31150820 (NC_000004.12:995353::AA 1/28258)...	-	Oct 17, 2022 (156)
34	14KJPN Submission ignored due to conflicting rows: Row 31150818 (NC_000004.12:995353::A 448/28258) Row 31150819 (NC_000004.12:995353:A: 427/28258) Row 31150820 (NC_000004.12:995353::AA 1/28258)...	-	Oct 17, 2022 (156)
35	14KJPN Submission ignored due to conflicting rows: Row 31150818 (NC_000004.12:995353::A 448/28258) Row 31150819 (NC_000004.12:995353:A: 427/28258) Row 31150820 (NC_000004.12:995353::AA 1/28258)...	-	Oct 17, 2022 (156)
36	14KJPN Submission ignored due to conflicting rows: Row 31150818 (NC_000004.12:995353::A 448/28258) Row 31150819 (NC_000004.12:995353:A: 427/28258) Row 31150820 (NC_000004.12:995353::AA 1/28258)...	-	Oct 17, 2022 (156)
37	ALFA	NC_000004.12 - 995354	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)
rs151044263	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
9620653489	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss5163789153	NC_000004.11:989141:AAA:	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4089166517, ss5697313717	NC_000004.12:995353:AAA:	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
9620653489	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4089166516, ss5257721140	NC_000004.12:995353:AA:	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
9620653489	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss1800783547, ss2993983005, ss5163789151	NC_000004.11:989141:A:	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4089166515, ss5257721138, ss5456679117, ss5697313715	NC_000004.12:995353:A:	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
9620653489	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss295149372	NC_000004.10:979142::A	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5163789152	NC_000004.11:989141::A	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4089166513, ss5257721139, ss5456679116, ss5697313714, ss5854043898	NC_000004.12:995353::A	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
9620653489	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss82172791, ss82226847, ss82307008	NT_037622.5:979157::A	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4089166514, ss5697313716	NC_000004.12:995353::AA	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
9620653489	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2427174425	NC_000004.11:989141:AAAA:	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA
ss3418062984	NC_000004.12:995353:AAAA:	NC_000004.12:995353:AAAAAAAAAAAAAA… NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs57992789

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

rs57992789