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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.

rs35598512

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:52508353-52508365 (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(GA)3 / delGAGA / delGA / dupGA…

del(GA)3 / delGAGA / delGA / dupGA / dupGAGA

Variation Type
Indel Insertion and Deletion
Frequency
del(GA)3=0.000011 (3/264690, TOPMED)
dupGA=0.08374 (1133/13530, ALFA)
delGAGA=0.0036 (12/3329, 1000G) (+ 3 more)
dupGA=0.4765 (873/1832, Korea1K)
dupGA=0.207 (207/998, GoNL)
dupGA=0.15 (6/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF578 : 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 13530 AGAGAGAGAGAGA=0.91249 AGAGAGA=0.00000, AGAGAGAGA=0.00377, AGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGA=0.08374, AGAGAGAGAGAGAGAGA=0.00000 0.854036 0.020852 0.125112 32
European Sub 11214 AGAGAGAGAGAGA=0.89486 AGAGAGA=0.00000, AGAGAGAGA=0.00455, AGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGA=0.10059, AGAGAGAGAGAGAGAGA=0.00000 0.824154 0.024838 0.151008 32
African Sub 1682 AGAGAGAGAGAGA=1.0000 AGAGAGA=0.0000, AGAGAGAGA=0.0000, AGAGAGAGAGA=0.0000, AGAGAGAGAGAGAGA=0.0000, AGAGAGAGAGAGAGAGA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 64 AGAGAGAGAGAGA=1.00 AGAGAGA=0.00, AGAGAGAGA=0.00, AGAGAGAGAGA=0.00, AGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGA=0.00 1.0 0.0 0.0 N/A
African American Sub 1618 AGAGAGAGAGAGA=1.0000 AGAGAGA=0.0000, AGAGAGAGA=0.0000, AGAGAGAGAGA=0.0000, AGAGAGAGAGAGAGA=0.0000, AGAGAGAGAGAGAGAGA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 44 AGAGAGAGAGAGA=1.00 AGAGAGA=0.00, AGAGAGAGA=0.00, AGAGAGAGAGA=0.00, AGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 32 AGAGAGAGAGAGA=1.00 AGAGAGA=0.00, AGAGAGAGA=0.00, AGAGAGAGAGA=0.00, AGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 12 AGAGAGAGAGAGA=1.00 AGAGAGA=0.00, AGAGAGAGA=0.00, AGAGAGAGAGA=0.00, AGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 70 AGAGAGAGAGAGA=1.00 AGAGAGA=0.00, AGAGAGAGA=0.00, AGAGAGAGAGA=0.00, AGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 194 AGAGAGAGAGAGA=1.000 AGAGAGA=0.000, AGAGAGAGA=0.000, AGAGAGAGAGA=0.000, AGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 54 AGAGAGAGAGAGA=1.00 AGAGAGA=0.00, AGAGAGAGA=0.00, AGAGAGAGAGA=0.00, AGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGA=0.00 1.0 0.0 0.0 N/A
Other Sub 272 AGAGAGAGAGAGA=0.982 AGAGAGA=0.000, AGAGAGAGA=0.000, AGAGAGAGAGA=0.000, AGAGAGAGAGAGAGA=0.018, AGAGAGAGAGAGAGAGA=0.000 0.977941 0.014706 0.007353 32


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
TopMed Global Study-wide 264690 (AG)6A=0.999989 del(GA)3=0.000011
Allele Frequency Aggregator Total Global 13530 (AG)6A=0.91249 del(GA)3=0.00000, delGAGA=0.00377, delGA=0.00000, dupGA=0.08374, dupGAGA=0.00000
Allele Frequency Aggregator European Sub 11214 (AG)6A=0.89486 del(GA)3=0.00000, delGAGA=0.00455, delGA=0.00000, dupGA=0.10059, dupGAGA=0.00000
Allele Frequency Aggregator African Sub 1682 (AG)6A=1.0000 del(GA)3=0.0000, delGAGA=0.0000, delGA=0.0000, dupGA=0.0000, dupGAGA=0.0000
Allele Frequency Aggregator Other Sub 272 (AG)6A=0.982 del(GA)3=0.000, delGAGA=0.000, delGA=0.000, dupGA=0.018, dupGAGA=0.000
Allele Frequency Aggregator Latin American 2 Sub 194 (AG)6A=1.000 del(GA)3=0.000, delGAGA=0.000, delGA=0.000, dupGA=0.000, dupGAGA=0.000
Allele Frequency Aggregator Latin American 1 Sub 70 (AG)6A=1.00 del(GA)3=0.00, delGAGA=0.00, delGA=0.00, dupGA=0.00, dupGAGA=0.00
Allele Frequency Aggregator South Asian Sub 54 (AG)6A=1.00 del(GA)3=0.00, delGAGA=0.00, delGA=0.00, dupGA=0.00, dupGAGA=0.00
Allele Frequency Aggregator Asian Sub 44 (AG)6A=1.00 del(GA)3=0.00, delGAGA=0.00, delGA=0.00, dupGA=0.00, dupGAGA=0.00
1000Genomes Global Study-wide 3329 (AG)6A=0.9964 delGAGA=0.0036
1000Genomes African Sub 985 (AG)6A=1.000 delGAGA=0.000
1000Genomes Europe Sub 769 (AG)6A=0.984 delGAGA=0.016
1000Genomes South Asian Sub 665 (AG)6A=1.000 delGAGA=0.000
1000Genomes East Asian Sub 488 (AG)6A=1.000 delGAGA=0.000
1000Genomes American Sub 422 (AG)6A=1.000 delGAGA=0.000
Korean Genome Project KOREAN Study-wide 1832 -

No frequency provided

dupGA=0.4765
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 -

No frequency provided

dupGA=0.207
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupGA=0.15
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 19 NC_000019.10:g.52508354GA[3]
GRCh38.p14 chr 19 NC_000019.10:g.52508354GA[4]
GRCh38.p14 chr 19 NC_000019.10:g.52508354GA[5]
GRCh38.p14 chr 19 NC_000019.10:g.52508354GA[7]
GRCh38.p14 chr 19 NC_000019.10:g.52508354GA[8]
GRCh37.p13 chr 19 NC_000019.9:g.53011607GA[3]
GRCh37.p13 chr 19 NC_000019.9:g.53011607GA[4]
GRCh37.p13 chr 19 NC_000019.9:g.53011607GA[5]
GRCh37.p13 chr 19 NC_000019.9:g.53011607GA[7]
GRCh37.p13 chr 19 NC_000019.9:g.53011607GA[8]
Gene: ZNF578, zinc finger protein 578 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF578 transcript variant 1 NM_001099694.2:c.191-2219…

NM_001099694.2:c.191-2219AG[3]

N/A Intron Variant
ZNF578 transcript variant 2 NM_001366182.2:c.191-2219…

NM_001366182.2:c.191-2219AG[3]

N/A Intron Variant
ZNF578 transcript variant X1 XM_047438189.1:c.191-2219…

XM_047438189.1:c.191-2219AG[3]

N/A Intron Variant
ZNF578 transcript variant X2 XM_047438190.1:c.191-2219…

XM_047438190.1:c.191-2219AG[3]

N/A Intron Variant
ZNF578 transcript variant X3 XM_047438191.1:c.191-2219…

XM_047438191.1:c.191-2219AG[3]

N/A Intron Variant
ZNF578 transcript variant X4 XM_047438192.1:c.191-2219…

XM_047438192.1:c.191-2219AG[3]

N/A Intron Variant
ZNF578 transcript variant X5 XM_047438193.1:c.191-2219…

XM_047438193.1:c.191-2219AG[3]

N/A Intron Variant
ZNF578 transcript variant X6 XM_047438194.1:c.-17-2219…

XM_047438194.1:c.-17-2219AG[3]

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 (AG)6A= del(GA)3 delGAGA delGA dupGA dupGAGA
GRCh38.p14 chr 19 NC_000019.10:g.52508353_52508365= NC_000019.10:g.52508354GA[3] NC_000019.10:g.52508354GA[4] NC_000019.10:g.52508354GA[5] NC_000019.10:g.52508354GA[7] NC_000019.10:g.52508354GA[8]
GRCh37.p13 chr 19 NC_000019.9:g.53011606_53011618= NC_000019.9:g.53011607GA[3] NC_000019.9:g.53011607GA[4] NC_000019.9:g.53011607GA[5] NC_000019.9:g.53011607GA[7] NC_000019.9:g.53011607GA[8]
ZNF578 transcript variant 1 NM_001099694.1:c.191-2219= NM_001099694.1:c.191-2219AG[3] NM_001099694.1:c.191-2219AG[4] NM_001099694.1:c.191-2219AG[5] NM_001099694.1:c.191-2219AG[7] NM_001099694.1:c.191-2219AG[8]
ZNF578 transcript variant 1 NM_001099694.2:c.191-2219= NM_001099694.2:c.191-2219AG[3] NM_001099694.2:c.191-2219AG[4] NM_001099694.2:c.191-2219AG[5] NM_001099694.2:c.191-2219AG[7] NM_001099694.2:c.191-2219AG[8]
ZNF578 transcript variant 2 NM_001366182.2:c.191-2219= NM_001366182.2:c.191-2219AG[3] NM_001366182.2:c.191-2219AG[4] NM_001366182.2:c.191-2219AG[5] NM_001366182.2:c.191-2219AG[7] NM_001366182.2:c.191-2219AG[8]
ZNF578 transcript variant X1 XM_005258527.1:c.191-2219= XM_005258527.1:c.191-2219AG[3] XM_005258527.1:c.191-2219AG[4] XM_005258527.1:c.191-2219AG[5] XM_005258527.1:c.191-2219AG[7] XM_005258527.1:c.191-2219AG[8]
ZNF578 transcript variant X1 XM_047438189.1:c.191-2219= XM_047438189.1:c.191-2219AG[3] XM_047438189.1:c.191-2219AG[4] XM_047438189.1:c.191-2219AG[5] XM_047438189.1:c.191-2219AG[7] XM_047438189.1:c.191-2219AG[8]
ZNF578 transcript variant X2 XM_047438190.1:c.191-2219= XM_047438190.1:c.191-2219AG[3] XM_047438190.1:c.191-2219AG[4] XM_047438190.1:c.191-2219AG[5] XM_047438190.1:c.191-2219AG[7] XM_047438190.1:c.191-2219AG[8]
ZNF578 transcript variant X3 XM_047438191.1:c.191-2219= XM_047438191.1:c.191-2219AG[3] XM_047438191.1:c.191-2219AG[4] XM_047438191.1:c.191-2219AG[5] XM_047438191.1:c.191-2219AG[7] XM_047438191.1:c.191-2219AG[8]
ZNF578 transcript variant X4 XM_047438192.1:c.191-2219= XM_047438192.1:c.191-2219AG[3] XM_047438192.1:c.191-2219AG[4] XM_047438192.1:c.191-2219AG[5] XM_047438192.1:c.191-2219AG[7] XM_047438192.1:c.191-2219AG[8]
ZNF578 transcript variant X5 XM_047438193.1:c.191-2219= XM_047438193.1:c.191-2219AG[3] XM_047438193.1:c.191-2219AG[4] XM_047438193.1:c.191-2219AG[5] XM_047438193.1:c.191-2219AG[7] XM_047438193.1:c.191-2219AG[8]
ZNF578 transcript variant X6 XM_047438194.1:c.-17-2219= XM_047438194.1:c.-17-2219AG[3] XM_047438194.1:c.-17-2219AG[4] XM_047438194.1:c.-17-2219AG[5] XM_047438194.1:c.-17-2219AG[7] XM_047438194.1:c.-17-2219AG[8]
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#.

54 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41006675 Mar 15, 2006 (126)
2 HUMANGENOME_JCVI ss95975965 Dec 05, 2013 (138)
3 GMI ss289393841 May 04, 2012 (137)
4 1000GENOMES ss327914720 May 09, 2011 (135)
5 1000GENOMES ss328039810 May 09, 2011 (135)
6 1000GENOMES ss328281483 May 09, 2011 (135)
7 LUNTER ss552634807 Apr 25, 2013 (138)
8 LUNTER ss553024633 Apr 25, 2013 (138)
9 LUNTER ss553667537 Apr 25, 2013 (138)
10 TISHKOFF ss565774257 Apr 25, 2013 (138)
11 SSMP ss664451767 Apr 01, 2015 (144)
12 EVA-GONL ss994400093 Aug 21, 2014 (142)
13 1000GENOMES ss1378248575 Aug 21, 2014 (142)
14 1000GENOMES ss1378248578 Oct 12, 2018 (152)
15 DDI ss1536896714 Apr 01, 2015 (144)
16 EVA_GENOME_DK ss1575310444 Apr 01, 2015 (144)
17 EVA_UK10K_ALSPAC ss1709243632 Apr 01, 2015 (144)
18 EVA_UK10K_TWINSUK ss1709243788 Apr 01, 2015 (144)
19 EVA_UK10K_TWINSUK ss1710798163 Oct 12, 2018 (152)
20 EVA_UK10K_ALSPAC ss1710798164 Oct 12, 2018 (152)
21 GENOMED ss1968661084 Jul 19, 2016 (147)
22 JJLAB ss2031412857 Sep 14, 2016 (149)
23 SYSTEMSBIOZJU ss2629360043 Nov 08, 2017 (151)
24 SWEGEN ss3017645867 Nov 08, 2017 (151)
25 MCHAISSO ss3063920364 Nov 08, 2017 (151)
26 MCHAISSO ss3064769344 Nov 08, 2017 (151)
27 BIOINF_KMB_FNS_UNIBA ss3645526523 Oct 12, 2018 (152)
28 URBANLAB ss3650938327 Oct 12, 2018 (152)
29 EVA_DECODE ss3702969170 Jul 13, 2019 (153)
30 EVA_DECODE ss3702969171 Jul 13, 2019 (153)
31 ACPOP ss3743127074 Jul 13, 2019 (153)
32 ACPOP ss3743127075 Jul 13, 2019 (153)
33 KHV_HUMAN_GENOMES ss3821432477 Jul 13, 2019 (153)
34 KHV_HUMAN_GENOMES ss3821432478 Jul 13, 2019 (153)
35 EVA ss3835514467 Apr 27, 2020 (154)
36 KOGIC ss3981580038 Apr 27, 2020 (154)
37 GNOMAD ss4332949771 Apr 27, 2021 (155)
38 GNOMAD ss4332949772 Apr 27, 2021 (155)
39 GNOMAD ss4332949773 Apr 27, 2021 (155)
40 GNOMAD ss4332949774 Apr 27, 2021 (155)
41 GNOMAD ss4332949775 Apr 27, 2021 (155)
42 TOPMED ss5078099624 Apr 27, 2021 (155)
43 TOMMO_GENOMICS ss5228244626 Apr 27, 2021 (155)
44 TOMMO_GENOMICS ss5228244627 Apr 27, 2021 (155)
45 1000G_HIGH_COVERAGE ss5307618736 Oct 13, 2022 (156)
46 1000G_HIGH_COVERAGE ss5307618737 Oct 13, 2022 (156)
47 HUGCELL_USP ss5500081393 Oct 13, 2022 (156)
48 HUGCELL_USP ss5500081394 Oct 13, 2022 (156)
49 TOMMO_GENOMICS ss5787042198 Oct 13, 2022 (156)
50 TOMMO_GENOMICS ss5787042199 Oct 13, 2022 (156)
51 YY_MCH ss5817690597 Oct 13, 2022 (156)
52 EVA ss5840691621 Oct 13, 2022 (156)
53 EVA ss5840691622 Oct 13, 2022 (156)
54 EVA ss5852328187 Oct 13, 2022 (156)
55 1000Genomes NC_000019.9 - 53011606 Oct 12, 2018 (152)
56 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 42618694 (NC_000019.9:53011605::AG 734/3854)
Row 42618695 (NC_000019.9:53011605:AGAG: 2/3854)

- Oct 12, 2018 (152)
57 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 42618694 (NC_000019.9:53011605::AG 734/3854)
Row 42618695 (NC_000019.9:53011605:AGAG: 2/3854)

- Oct 12, 2018 (152)
58 The Danish reference pan genome NC_000019.9 - 53011606 Apr 27, 2020 (154)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542900915 (NC_000019.10:52508352::AG 35057/137714)
Row 542900916 (NC_000019.10:52508352::AGAG 4/137814)
Row 542900917 (NC_000019.10:52508352:AG: 6/137810)...

- Apr 27, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542900915 (NC_000019.10:52508352::AG 35057/137714)
Row 542900916 (NC_000019.10:52508352::AGAG 4/137814)
Row 542900917 (NC_000019.10:52508352:AG: 6/137810)...

- Apr 27, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542900915 (NC_000019.10:52508352::AG 35057/137714)
Row 542900916 (NC_000019.10:52508352::AGAG 4/137814)
Row 542900917 (NC_000019.10:52508352:AG: 6/137810)...

- Apr 27, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542900915 (NC_000019.10:52508352::AG 35057/137714)
Row 542900916 (NC_000019.10:52508352::AGAG 4/137814)
Row 542900917 (NC_000019.10:52508352:AG: 6/137810)...

- Apr 27, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542900915 (NC_000019.10:52508352::AG 35057/137714)
Row 542900916 (NC_000019.10:52508352::AGAG 4/137814)
Row 542900917 (NC_000019.10:52508352:AG: 6/137810)...

- Apr 27, 2021 (155)
64 Genome of the Netherlands Release 5 NC_000019.9 - 53011606 Apr 27, 2020 (154)
65 Korean Genome Project NC_000019.10 - 52508353 Apr 27, 2020 (154)
66 Northern Sweden

Submission ignored due to conflicting rows:
Row 16411939 (NC_000019.9:53011605::AG 125/600)
Row 16411940 (NC_000019.9:53011605:AGAG: 3/600)

- Jul 13, 2019 (153)
67 Northern Sweden

Submission ignored due to conflicting rows:
Row 16411939 (NC_000019.9:53011605::AG 125/600)
Row 16411940 (NC_000019.9:53011605:AGAG: 3/600)

- Jul 13, 2019 (153)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 86213933 (NC_000019.9:53011605::AG 8369/16760)
Row 86213934 (NC_000019.9:53011605:AGAG: 1/16760)

- Apr 27, 2021 (155)
69 8.3KJPN

Submission ignored due to conflicting rows:
Row 86213933 (NC_000019.9:53011605::AG 8369/16760)
Row 86213934 (NC_000019.9:53011605:AGAG: 1/16760)

- Apr 27, 2021 (155)
70 14KJPN

Submission ignored due to conflicting rows:
Row 120879302 (NC_000019.10:52508352::AG 14015/28258)
Row 120879303 (NC_000019.10:52508352:AGAG: 1/28258)

- Oct 13, 2022 (156)
71 14KJPN

Submission ignored due to conflicting rows:
Row 120879302 (NC_000019.10:52508352::AG 14015/28258)
Row 120879303 (NC_000019.10:52508352:AGAG: 1/28258)

- Oct 13, 2022 (156)
72 TopMed NC_000019.10 - 52508353 Apr 27, 2021 (155)
73 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 42618694 (NC_000019.9:53011605::AG 743/3708)
Row 42618695 (NC_000019.9:53011605:AGAG: 1/3708)

- Oct 12, 2018 (152)
74 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 42618694 (NC_000019.9:53011605::AG 743/3708)
Row 42618695 (NC_000019.9:53011605:AGAG: 1/3708)

- Oct 12, 2018 (152)
75 ALFA NC_000019.10 - 52508353 Apr 27, 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).

Associated ID History Updated (Build)
rs375647416 May 15, 2013 (138)
rs931059462 Nov 08, 2017 (151)
rs142058402 Sep 17, 2011 (135)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
293645288, ss4332949775, ss5078099624 NC_000019.10:52508352:AGAGAG: NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGA

(self)
13477867338 NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGA

NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGA

(self)
76981436, ss1378248575, ss1709243632, ss1709243788, ss3017645867, ss3743127075, ss5228244627, ss5840691622 NC_000019.9:53011605:AGAG: NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGA

(self)
ss3702969171, ss4332949774, ss5307618737, ss5500081394, ss5787042199 NC_000019.10:52508352:AGAG: NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGA

(self)
13477867338 NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGA

NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGA

(self)
ss4332949773 NC_000019.10:52508352:AG: NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGA

(self)
13477867338 NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGA

NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGA

(self)
ss327914720, ss328039810, ss328281483, ss552634807, ss553024633, ss553667537 NC_000019.8:57703417::AG NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA

(self)
ss289393841 NC_000019.8:57703430::GA NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA

(self)
640517, 18985914, ss664451767, ss994400093, ss1536896714, ss1575310444, ss1968661084, ss2031412857, ss2629360043, ss3743127074, ss3835514467, ss5228244626, ss5840691621 NC_000019.9:53011605::AG NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA

(self)
ss1378248578, ss1710798163, ss1710798164 NC_000019.9:53011609::AG NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA

(self)
ss565774257 NC_000019.9:53011618::GA NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA

(self)
37958039, ss3063920364, ss3064769344, ss3645526523, ss3650938327, ss3821432477, ss3981580038, ss4332949771, ss5307618736, ss5500081393, ss5787042198, ss5817690597, ss5852328187 NC_000019.10:52508352::AG NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA

(self)
13477867338 NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA

NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA

(self)
ss3702969170, ss3821432478 NC_000019.10:52508356::AG NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA

(self)
ss41006675 NT_011109.16:25279823::AG NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA

(self)
ss95975965 NT_011109.16:25279836::GA NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA

(self)
ss4332949772 NC_000019.10:52508352::AGAG NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA

(self)
13477867338 NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA

NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2392319602 NC_000019.9:53011605:AG: NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGA

ss2392319603 NC_000019.9:53011605:AGAGAG: NC_000019.10:52508352:AGAGAGAGAGAG…

NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGA

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 rs35598512

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