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dbSNP Short Genetic Variations

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.

rs200517890

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:120400742-120400749 (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)5 / del(A)4 / delAAA / delAA…

del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)6 / dup(A)7

Variation Type
Indel Insertion and Deletion
Frequency
del(A)5=0.0000 (0/9300, ALFA)
del(A)4=0.0000 (0/9300, ALFA)
delAAA=0.0000 (0/9300, ALFA) (+ 9 more)
delAA=0.0000 (0/9300, ALFA)
delA=0.0000 (0/9300, ALFA)
dupA=0.0000 (0/9300, ALFA)
dupAA=0.0000 (0/9300, ALFA)
dupAAA=0.0000 (0/9300, ALFA)
dup(A)4=0.0000 (0/9300, ALFA)
dup(A)6=0.0000 (0/9300, ALFA)
dup(A)7=0.0000 (0/9300, ALFA)
del(A)4=0.0164 (30/1832, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MRPL13 : 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 Alt HMOZ HTRZ HWEP
Total Global 9300 AAAAAAAA=1.0000 AAA=0.0000, AAAA=0.0000, AAAAA=0.0000, AAAAAA=0.0000, AAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 6532 AAAAAAAA=1.0000 AAA=0.0000, AAAA=0.0000, AAAAA=0.0000, AAAAAA=0.0000, AAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 1536 AAAAAAAA=1.0000 AAA=0.0000, AAAA=0.0000, AAAAA=0.0000, AAAAAA=0.0000, AAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 62 AAAAAAAA=1.00 AAA=0.00, AAAA=0.00, AAAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1474 AAAAAAAA=1.0000 AAA=0.0000, AAAA=0.0000, AAAAA=0.0000, AAAAAA=0.0000, AAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 AAAAAAAA=1.000 AAA=0.000, AAAA=0.000, AAAAA=0.000, AAAAAA=0.000, AAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 AAAAAAAA=1.00 AAA=0.00, AAAA=0.00, AAAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 AAAAAAAA=1.00 AAA=0.00, AAAA=0.00, AAAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 118 AAAAAAAA=1.000 AAA=0.000, AAAA=0.000, AAAAA=0.000, AAAAAA=0.000, AAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 550 AAAAAAAA=1.000 AAA=0.000, AAAA=0.000, AAAAA=0.000, AAAAAA=0.000, AAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 84 AAAAAAAA=1.00 AAA=0.00, AAAA=0.00, AAAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 372 AAAAAAAA=1.000 AAA=0.000, AAAA=0.000, AAAAA=0.000, AAAAAA=0.000, AAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A


Help

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
Allele Frequency Aggregator Total Global 9300 (A)8=1.0000 del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)6=0.0000, dup(A)7=0.0000
Allele Frequency Aggregator European Sub 6532 (A)8=1.0000 del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)6=0.0000, dup(A)7=0.0000
Allele Frequency Aggregator African Sub 1536 (A)8=1.0000 del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)6=0.0000, dup(A)7=0.0000
Allele Frequency Aggregator Latin American 2 Sub 550 (A)8=1.000 del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)7=0.000
Allele Frequency Aggregator Other Sub 372 (A)8=1.000 del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)7=0.000
Allele Frequency Aggregator Latin American 1 Sub 118 (A)8=1.000 del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)7=0.000
Allele Frequency Aggregator Asian Sub 108 (A)8=1.000 del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)7=0.000
Allele Frequency Aggregator South Asian Sub 84 (A)8=1.00 del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)7=0.00
Korean Genome Project KOREAN Study-wide 1832 (A)8=0.9836 del(A)4=0.0164
Help

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 8 NC_000008.11:g.120400745_120400749del
GRCh38.p14 chr 8 NC_000008.11:g.120400746_120400749del
GRCh38.p14 chr 8 NC_000008.11:g.120400747_120400749del
GRCh38.p14 chr 8 NC_000008.11:g.120400748_120400749del
GRCh38.p14 chr 8 NC_000008.11:g.120400749del
GRCh38.p14 chr 8 NC_000008.11:g.120400749dup
GRCh38.p14 chr 8 NC_000008.11:g.120400748_120400749dup
GRCh38.p14 chr 8 NC_000008.11:g.120400747_120400749dup
GRCh38.p14 chr 8 NC_000008.11:g.120400746_120400749dup
GRCh38.p14 chr 8 NC_000008.11:g.120400744_120400749dup
GRCh38.p14 chr 8 NC_000008.11:g.120400743_120400749dup
GRCh37.p13 chr 8 NC_000008.10:g.121412984_121412988del
GRCh37.p13 chr 8 NC_000008.10:g.121412985_121412988del
GRCh37.p13 chr 8 NC_000008.10:g.121412986_121412988del
GRCh37.p13 chr 8 NC_000008.10:g.121412987_121412988del
GRCh37.p13 chr 8 NC_000008.10:g.121412988del
GRCh37.p13 chr 8 NC_000008.10:g.121412988dup
GRCh37.p13 chr 8 NC_000008.10:g.121412987_121412988dup
GRCh37.p13 chr 8 NC_000008.10:g.121412986_121412988dup
GRCh37.p13 chr 8 NC_000008.10:g.121412985_121412988dup
GRCh37.p13 chr 8 NC_000008.10:g.121412983_121412988dup
GRCh37.p13 chr 8 NC_000008.10:g.121412982_121412988dup
Gene: MRPL13, mitochondrial ribosomal protein L13 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MRPL13 transcript NM_014078.6:c.516-4621_51…

NM_014078.6:c.516-4621_516-4617del

N/A Intron Variant
Help

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
Help

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)8= del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)6 dup(A)7
GRCh38.p14 chr 8 NC_000008.11:g.120400742_120400749= NC_000008.11:g.120400745_120400749del NC_000008.11:g.120400746_120400749del NC_000008.11:g.120400747_120400749del NC_000008.11:g.120400748_120400749del NC_000008.11:g.120400749del NC_000008.11:g.120400749dup NC_000008.11:g.120400748_120400749dup NC_000008.11:g.120400747_120400749dup NC_000008.11:g.120400746_120400749dup NC_000008.11:g.120400744_120400749dup NC_000008.11:g.120400743_120400749dup
GRCh37.p13 chr 8 NC_000008.10:g.121412981_121412988= NC_000008.10:g.121412984_121412988del NC_000008.10:g.121412985_121412988del NC_000008.10:g.121412986_121412988del NC_000008.10:g.121412987_121412988del NC_000008.10:g.121412988del NC_000008.10:g.121412988dup NC_000008.10:g.121412987_121412988dup NC_000008.10:g.121412986_121412988dup NC_000008.10:g.121412985_121412988dup NC_000008.10:g.121412983_121412988dup NC_000008.10:g.121412982_121412988dup
MRPL13 transcript NM_014078.5:c.516-4617= NM_014078.5:c.516-4621_516-4617del NM_014078.5:c.516-4620_516-4617del NM_014078.5:c.516-4619_516-4617del NM_014078.5:c.516-4618_516-4617del NM_014078.5:c.516-4617del NM_014078.5:c.516-4617dup NM_014078.5:c.516-4618_516-4617dup NM_014078.5:c.516-4619_516-4617dup NM_014078.5:c.516-4620_516-4617dup NM_014078.5:c.516-4622_516-4617dup NM_014078.5:c.516-4623_516-4617dup
MRPL13 transcript NM_014078.6:c.516-4617= NM_014078.6:c.516-4621_516-4617del NM_014078.6:c.516-4620_516-4617del NM_014078.6:c.516-4619_516-4617del NM_014078.6:c.516-4618_516-4617del NM_014078.6:c.516-4617del NM_014078.6:c.516-4617dup NM_014078.6:c.516-4618_516-4617dup NM_014078.6:c.516-4619_516-4617dup NM_014078.6:c.516-4620_516-4617dup NM_014078.6:c.516-4622_516-4617dup NM_014078.6:c.516-4623_516-4617dup
Help

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#.

32 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss43189092 Oct 12, 2018 (152)
2 HUMANGENOME_JCVI ss95503772 Mar 15, 2016 (147)
3 GMI ss288932688 May 04, 2012 (137)
4 1000GENOMES ss327507327 Aug 21, 2014 (142)
5 LUNTER ss551890031 Apr 25, 2013 (138)
6 LUNTER ss553358110 Apr 25, 2013 (138)
7 EVA_DECODE ss3722909009 Jul 13, 2019 (153)
8 EVA_DECODE ss3722909010 Jul 13, 2019 (153)
9 EVA_DECODE ss3722909011 Jul 13, 2019 (153)
10 ACPOP ss3736057729 Jul 13, 2019 (153)
11 ACPOP ss3736057730 Jul 13, 2019 (153)
12 EVA ss3831388019 Apr 26, 2020 (154)
13 KOGIC ss3964745591 Apr 26, 2020 (154)
14 GNOMAD ss4192596888 Apr 26, 2021 (155)
15 GNOMAD ss4192596889 Apr 26, 2021 (155)
16 GNOMAD ss4192596890 Apr 26, 2021 (155)
17 GNOMAD ss4192596891 Apr 26, 2021 (155)
18 GNOMAD ss4192596893 Apr 26, 2021 (155)
19 GNOMAD ss4192596894 Apr 26, 2021 (155)
20 GNOMAD ss4192596895 Apr 26, 2021 (155)
21 GNOMAD ss4192596896 Apr 26, 2021 (155)
22 GNOMAD ss4192596897 Apr 26, 2021 (155)
23 TOMMO_GENOMICS ss5190776375 Apr 26, 2021 (155)
24 TOMMO_GENOMICS ss5190776376 Apr 26, 2021 (155)
25 1000G_HIGH_COVERAGE ss5278762404 Oct 16, 2022 (156)
26 HUGCELL_USP ss5475161516 Oct 16, 2022 (156)
27 HUGCELL_USP ss5475161517 Oct 16, 2022 (156)
28 HUGCELL_USP ss5475161518 Oct 16, 2022 (156)
29 TOMMO_GENOMICS ss5733437191 Oct 16, 2022 (156)
30 TOMMO_GENOMICS ss5733437193 Oct 16, 2022 (156)
31 TOMMO_GENOMICS ss5733437194 Oct 16, 2022 (156)
32 YY_MCH ss5810091941 Oct 16, 2022 (156)
33 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 309724122 (NC_000008.11:120400741::A 1/77166)
Row 309724123 (NC_000008.11:120400741::AA 16/77162)
Row 309724124 (NC_000008.11:120400741::AAA 31/77166)...

- Apr 26, 2021 (155)
34 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 309724122 (NC_000008.11:120400741::A 1/77166)
Row 309724123 (NC_000008.11:120400741::AA 16/77162)
Row 309724124 (NC_000008.11:120400741::AAA 31/77166)...

- Apr 26, 2021 (155)
35 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 309724122 (NC_000008.11:120400741::A 1/77166)
Row 309724123 (NC_000008.11:120400741::AA 16/77162)
Row 309724124 (NC_000008.11:120400741::AAA 31/77166)...

- Apr 26, 2021 (155)
36 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 309724122 (NC_000008.11:120400741::A 1/77166)
Row 309724123 (NC_000008.11:120400741::AA 16/77162)
Row 309724124 (NC_000008.11:120400741::AAA 31/77166)...

- Apr 26, 2021 (155)
37 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 309724122 (NC_000008.11:120400741::A 1/77166)
Row 309724123 (NC_000008.11:120400741::AA 16/77162)
Row 309724124 (NC_000008.11:120400741::AAA 31/77166)...

- Apr 26, 2021 (155)
38 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 309724122 (NC_000008.11:120400741::A 1/77166)
Row 309724123 (NC_000008.11:120400741::AA 16/77162)
Row 309724124 (NC_000008.11:120400741::AAA 31/77166)...

- Apr 26, 2021 (155)
39 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 309724122 (NC_000008.11:120400741::A 1/77166)
Row 309724123 (NC_000008.11:120400741::AA 16/77162)
Row 309724124 (NC_000008.11:120400741::AAA 31/77166)...

- Apr 26, 2021 (155)
40 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 309724122 (NC_000008.11:120400741::A 1/77166)
Row 309724123 (NC_000008.11:120400741::AA 16/77162)
Row 309724124 (NC_000008.11:120400741::AAA 31/77166)...

- Apr 26, 2021 (155)
41 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 309724122 (NC_000008.11:120400741::A 1/77166)
Row 309724123 (NC_000008.11:120400741::AA 16/77162)
Row 309724124 (NC_000008.11:120400741::AAA 31/77166)...

- Apr 26, 2021 (155)
42 Korean Genome Project NC_000008.11 - 120400742 Apr 26, 2020 (154)
43 Northern Sweden

Submission ignored due to conflicting rows:
Row 9342594 (NC_000008.10:121412980:AAAA: 23/586)
Row 9342595 (NC_000008.10:121412980:A: 10/586)

- Jul 13, 2019 (153)
44 Northern Sweden

Submission ignored due to conflicting rows:
Row 9342594 (NC_000008.10:121412980:AAAA: 23/586)
Row 9342595 (NC_000008.10:121412980:A: 10/586)

- Jul 13, 2019 (153)
45 8.3KJPN

Submission ignored due to conflicting rows:
Row 48745682 (NC_000008.10:121412980:AAAA: 295/16194)
Row 48745683 (NC_000008.10:121412980:A: 1/16194)

- Apr 26, 2021 (155)
46 8.3KJPN

Submission ignored due to conflicting rows:
Row 48745682 (NC_000008.10:121412980:AAAA: 295/16194)
Row 48745683 (NC_000008.10:121412980:A: 1/16194)

- Apr 26, 2021 (155)
47 14KJPN

Submission ignored due to conflicting rows:
Row 67274295 (NC_000008.11:120400741:AAAA: 490/28222)
Row 67274297 (NC_000008.11:120400741:A: 2/28222)
Row 67274298 (NC_000008.11:120400741:AAA: 1/28222)

- Oct 16, 2022 (156)
48 14KJPN

Submission ignored due to conflicting rows:
Row 67274295 (NC_000008.11:120400741:AAAA: 490/28222)
Row 67274297 (NC_000008.11:120400741:A: 2/28222)
Row 67274298 (NC_000008.11:120400741:AAA: 1/28222)

- Oct 16, 2022 (156)
49 14KJPN

Submission ignored due to conflicting rows:
Row 67274295 (NC_000008.11:120400741:AAAA: 490/28222)
Row 67274297 (NC_000008.11:120400741:A: 2/28222)
Row 67274298 (NC_000008.11:120400741:AAA: 1/28222)

- Oct 16, 2022 (156)
50 ALFA NC_000008.11 - 120400742 Apr 26, 2021 (155)
Help

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
ss3722909011, ss4192596897, ss5475161518 NC_000008.11:120400741:AAAAA: NC_000008.11:120400741:AAAAAAAA:AAA (self)
14405081010 NC_000008.11:120400741:AAAAAAAA:AAA NC_000008.11:120400741:AAAAAAAA:AAA (self)
ss288932688, ss327507327, ss551890031, ss553358110 NC_000008.9:121482161:AAAA: NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAA

(self)
ss3736057729, ss5190776375 NC_000008.10:121412980:AAAA: NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAA

(self)
21123592, ss3964745591, ss4192596896, ss5278762404, ss5475161516, ss5733437191, ss5810091941 NC_000008.11:120400741:AAAA: NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAA

(self)
14405081010 NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAA

NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAA

(self)
ss3722909010 NC_000008.11:120400742:AAAA: NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAA

(self)
ss43189092 NT_008046.16:34686528:TAAAA:T NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAA

(self)
ss4192596895, ss5733437194 NC_000008.11:120400741:AAA: NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAA

(self)
14405081010 NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAA

NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAA

(self)
ss4192596894 NC_000008.11:120400741:AA: NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAA

(self)
14405081010 NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAA

NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAA

(self)
ss3736057730, ss3831388019, ss5190776376 NC_000008.10:121412980:A: NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAA

(self)
ss4192596893, ss5475161517, ss5733437193 NC_000008.11:120400741:A: NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAA

(self)
14405081010 NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAA

NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAA

(self)
ss3722909009 NC_000008.11:120400745:A: NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAA

(self)
ss95503772 NT_008046.16:34686531:A: NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAA

(self)
ss4192596888 NC_000008.11:120400741::A NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAA

(self)
14405081010 NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAA

NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAA

(self)
ss4192596889 NC_000008.11:120400741::AA NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAA

(self)
14405081010 NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAA

NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAA

(self)
ss4192596890 NC_000008.11:120400741::AAA NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAA

(self)
14405081010 NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAA

NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAA

(self)
14405081010 NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAAA

NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAAA

(self)
ss4192596891 NC_000008.11:120400741::AAAAAA NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAAAAA

(self)
14405081010 NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAAAAA

NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAAAAA

(self)
14405081010 NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAAAAAA

NC_000008.11:120400741:AAAAAAAA:AA…

NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAAAAAA

(self)
Help

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

No publications for rs200517890

Help

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.

Software version is: 2.0.1.post820+afb47a3d