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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.

rs10594903

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:52500878-52500896 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(T)6 / del(T)5 / del(T)4 / delT…

del(T)6 / del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dup(T)8

Variation Type
Indel Insertion and Deletion
Frequency
del(T)6=0.000 (0/250, ALFA)
del(T)5=0.000 (0/250, ALFA)
del(T)4=0.000 (0/250, ALFA) (+ 4 more)
delTTT=0.000 (0/250, ALFA)
delTT=0.000 (0/250, ALFA)
delT=0.000 (0/250, ALFA)
dupT=0.000 (0/250, ALFA)
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 250 TTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
European Sub 160 TTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Sub 62 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 TTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
African American Sub 62 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 TTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
East Asian Sub 0 TTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Other Asian Sub 0 TTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Latin American 1 Sub 6 TTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 8 TTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
South Asian Sub 0 TTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Other Sub 14 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00 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 250 (T)19=1.000 del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator European Sub 160 (T)19=1.000 del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator African Sub 62 (T)19=1.00 del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator Other Sub 14 (T)19=1.00 del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator Latin American 2 Sub 8 (T)19=1.0 del(T)6=0.0, del(T)5=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0
Allele Frequency Aggregator Latin American 1 Sub 6 (T)19=1.0 del(T)6=0.0, del(T)5=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0
Allele Frequency Aggregator South Asian Sub 0 (T)19=0 del(T)6=0, del(T)5=0, del(T)4=0, delTTT=0, delTT=0, delT=0, dupT=0
Allele Frequency Aggregator Asian Sub 0 (T)19=0 del(T)6=0, del(T)5=0, del(T)4=0, delTTT=0, delTT=0, delT=0, dupT=0
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.52500891_52500896del
GRCh38.p14 chr 19 NC_000019.10:g.52500892_52500896del
GRCh38.p14 chr 19 NC_000019.10:g.52500893_52500896del
GRCh38.p14 chr 19 NC_000019.10:g.52500894_52500896del
GRCh38.p14 chr 19 NC_000019.10:g.52500895_52500896del
GRCh38.p14 chr 19 NC_000019.10:g.52500896del
GRCh38.p14 chr 19 NC_000019.10:g.52500896dup
GRCh38.p14 chr 19 NC_000019.10:g.52500889_52500896dup
GRCh37.p13 chr 19 NC_000019.9:g.53004144_53004149del
GRCh37.p13 chr 19 NC_000019.9:g.53004145_53004149del
GRCh37.p13 chr 19 NC_000019.9:g.53004146_53004149del
GRCh37.p13 chr 19 NC_000019.9:g.53004147_53004149del
GRCh37.p13 chr 19 NC_000019.9:g.53004148_53004149del
GRCh37.p13 chr 19 NC_000019.9:g.53004149del
GRCh37.p13 chr 19 NC_000019.9:g.53004149dup
GRCh37.p13 chr 19 NC_000019.9:g.53004142_53004149dup
Gene: ZNF578, zinc finger protein 578 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF578 transcript variant 1 NM_001099694.2:c.-19-936_…

NM_001099694.2:c.-19-936_-19-931del

N/A Intron Variant
ZNF578 transcript variant 2 NM_001366182.2:c.-19-936_…

NM_001366182.2:c.-19-936_-19-931del

N/A Intron Variant
ZNF578 transcript variant X1 XM_047438189.1:c.-19-936_…

XM_047438189.1:c.-19-936_-19-931del

N/A Intron Variant
ZNF578 transcript variant X2 XM_047438190.1:c.-19-936_…

XM_047438190.1:c.-19-936_-19-931del

N/A Intron Variant
ZNF578 transcript variant X3 XM_047438191.1:c.-19-936_…

XM_047438191.1:c.-19-936_-19-931del

N/A Intron Variant
ZNF578 transcript variant X4 XM_047438192.1:c.-19-936_…

XM_047438192.1:c.-19-936_-19-931del

N/A Intron Variant
ZNF578 transcript variant X5 XM_047438193.1:c.-19-936_…

XM_047438193.1:c.-19-936_-19-931del

N/A Intron Variant
ZNF578 transcript variant X6 XM_047438194.1:c.-99-936_…

XM_047438194.1:c.-99-936_-99-931del

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 (T)19= del(T)6 del(T)5 del(T)4 delTTT delTT delT dupT dup(T)8
GRCh38.p14 chr 19 NC_000019.10:g.52500878_52500896= NC_000019.10:g.52500891_52500896del NC_000019.10:g.52500892_52500896del NC_000019.10:g.52500893_52500896del NC_000019.10:g.52500894_52500896del NC_000019.10:g.52500895_52500896del NC_000019.10:g.52500896del NC_000019.10:g.52500896dup NC_000019.10:g.52500889_52500896dup
GRCh37.p13 chr 19 NC_000019.9:g.53004131_53004149= NC_000019.9:g.53004144_53004149del NC_000019.9:g.53004145_53004149del NC_000019.9:g.53004146_53004149del NC_000019.9:g.53004147_53004149del NC_000019.9:g.53004148_53004149del NC_000019.9:g.53004149del NC_000019.9:g.53004149dup NC_000019.9:g.53004142_53004149dup
ZNF578 transcript variant 1 NM_001099694.1:c.-19-949= NM_001099694.1:c.-19-936_-19-931del NM_001099694.1:c.-19-935_-19-931del NM_001099694.1:c.-19-934_-19-931del NM_001099694.1:c.-19-933_-19-931del NM_001099694.1:c.-19-932_-19-931del NM_001099694.1:c.-19-931del NM_001099694.1:c.-19-931dup NM_001099694.1:c.-19-938_-19-931dup
ZNF578 transcript variant 1 NM_001099694.2:c.-19-949= NM_001099694.2:c.-19-936_-19-931del NM_001099694.2:c.-19-935_-19-931del NM_001099694.2:c.-19-934_-19-931del NM_001099694.2:c.-19-933_-19-931del NM_001099694.2:c.-19-932_-19-931del NM_001099694.2:c.-19-931del NM_001099694.2:c.-19-931dup NM_001099694.2:c.-19-938_-19-931dup
ZNF578 transcript variant 2 NM_001366182.2:c.-19-949= NM_001366182.2:c.-19-936_-19-931del NM_001366182.2:c.-19-935_-19-931del NM_001366182.2:c.-19-934_-19-931del NM_001366182.2:c.-19-933_-19-931del NM_001366182.2:c.-19-932_-19-931del NM_001366182.2:c.-19-931del NM_001366182.2:c.-19-931dup NM_001366182.2:c.-19-938_-19-931dup
ZNF578 transcript variant X1 XM_005258527.1:c.-19-949= XM_005258527.1:c.-19-936_-19-931del XM_005258527.1:c.-19-935_-19-931del XM_005258527.1:c.-19-934_-19-931del XM_005258527.1:c.-19-933_-19-931del XM_005258527.1:c.-19-932_-19-931del XM_005258527.1:c.-19-931del XM_005258527.1:c.-19-931dup XM_005258527.1:c.-19-938_-19-931dup
ZNF578 transcript variant X1 XM_047438189.1:c.-19-949= XM_047438189.1:c.-19-936_-19-931del XM_047438189.1:c.-19-935_-19-931del XM_047438189.1:c.-19-934_-19-931del XM_047438189.1:c.-19-933_-19-931del XM_047438189.1:c.-19-932_-19-931del XM_047438189.1:c.-19-931del XM_047438189.1:c.-19-931dup XM_047438189.1:c.-19-938_-19-931dup
ZNF578 transcript variant X2 XM_047438190.1:c.-19-949= XM_047438190.1:c.-19-936_-19-931del XM_047438190.1:c.-19-935_-19-931del XM_047438190.1:c.-19-934_-19-931del XM_047438190.1:c.-19-933_-19-931del XM_047438190.1:c.-19-932_-19-931del XM_047438190.1:c.-19-931del XM_047438190.1:c.-19-931dup XM_047438190.1:c.-19-938_-19-931dup
ZNF578 transcript variant X3 XM_047438191.1:c.-19-949= XM_047438191.1:c.-19-936_-19-931del XM_047438191.1:c.-19-935_-19-931del XM_047438191.1:c.-19-934_-19-931del XM_047438191.1:c.-19-933_-19-931del XM_047438191.1:c.-19-932_-19-931del XM_047438191.1:c.-19-931del XM_047438191.1:c.-19-931dup XM_047438191.1:c.-19-938_-19-931dup
ZNF578 transcript variant X4 XM_047438192.1:c.-19-949= XM_047438192.1:c.-19-936_-19-931del XM_047438192.1:c.-19-935_-19-931del XM_047438192.1:c.-19-934_-19-931del XM_047438192.1:c.-19-933_-19-931del XM_047438192.1:c.-19-932_-19-931del XM_047438192.1:c.-19-931del XM_047438192.1:c.-19-931dup XM_047438192.1:c.-19-938_-19-931dup
ZNF578 transcript variant X5 XM_047438193.1:c.-19-949= XM_047438193.1:c.-19-936_-19-931del XM_047438193.1:c.-19-935_-19-931del XM_047438193.1:c.-19-934_-19-931del XM_047438193.1:c.-19-933_-19-931del XM_047438193.1:c.-19-932_-19-931del XM_047438193.1:c.-19-931del XM_047438193.1:c.-19-931dup XM_047438193.1:c.-19-938_-19-931dup
ZNF578 transcript variant X6 XM_047438194.1:c.-99-949= XM_047438194.1:c.-99-936_-99-931del XM_047438194.1:c.-99-935_-99-931del XM_047438194.1:c.-99-934_-99-931del XM_047438194.1:c.-99-933_-99-931del XM_047438194.1:c.-99-932_-99-931del XM_047438194.1:c.-99-931del XM_047438194.1:c.-99-931dup XM_047438194.1:c.-99-938_-99-931dup
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#.

50 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss40979262 Mar 15, 2016 (147)
2 HGSV ss80725547 Sep 08, 2015 (146)
3 HGSV ss81879511 Sep 08, 2015 (146)
4 HGSV ss82009807 Sep 08, 2015 (146)
5 HUMANGENOME_JCVI ss96282682 Mar 15, 2016 (149)
6 GMI ss289393837 May 04, 2012 (137)
7 PJP ss294966940 May 09, 2011 (142)
8 PJP ss294966941 May 09, 2011 (137)
9 EVA_UK10K_ALSPAC ss1709243598 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1709243720 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1710798159 Apr 01, 2015 (144)
12 EVA_UK10K_ALSPAC ss1710798160 Apr 01, 2015 (144)
13 HAMMER_LAB ss1809355066 Sep 08, 2015 (146)
14 MCHAISSO ss3064769341 Nov 08, 2017 (151)
15 EVA_DECODE ss3702968995 Jul 13, 2019 (153)
16 EVA_DECODE ss3702968996 Jul 13, 2019 (153)
17 EVA_DECODE ss3702968997 Jul 13, 2019 (153)
18 EVA_DECODE ss3702968998 Jul 13, 2019 (153)
19 EVA_DECODE ss3702968999 Jul 13, 2019 (153)
20 EVA_DECODE ss3702969000 Jul 13, 2019 (153)
21 PACBIO ss3788560111 Jul 13, 2019 (153)
22 PACBIO ss3793465454 Jul 13, 2019 (153)
23 PACBIO ss3798352405 Jul 13, 2019 (153)
24 EVA ss3835514396 Apr 27, 2020 (154)
25 GNOMAD ss4332948695 Apr 27, 2021 (155)
26 GNOMAD ss4332948697 Apr 27, 2021 (155)
27 GNOMAD ss4332948698 Apr 27, 2021 (155)
28 GNOMAD ss4332948699 Apr 27, 2021 (155)
29 GNOMAD ss4332948700 Apr 27, 2021 (155)
30 GNOMAD ss4332948701 Apr 27, 2021 (155)
31 TOMMO_GENOMICS ss5228244224 Apr 27, 2021 (155)
32 TOMMO_GENOMICS ss5228244225 Apr 27, 2021 (155)
33 TOMMO_GENOMICS ss5228244226 Apr 27, 2021 (155)
34 TOMMO_GENOMICS ss5228244227 Apr 27, 2021 (155)
35 1000G_HIGH_COVERAGE ss5307618441 Oct 13, 2022 (156)
36 1000G_HIGH_COVERAGE ss5307618442 Oct 13, 2022 (156)
37 1000G_HIGH_COVERAGE ss5307618443 Oct 13, 2022 (156)
38 1000G_HIGH_COVERAGE ss5307618444 Oct 13, 2022 (156)
39 1000G_HIGH_COVERAGE ss5307618445 Oct 13, 2022 (156)
40 HUGCELL_USP ss5500081157 Oct 13, 2022 (156)
41 HUGCELL_USP ss5500081158 Oct 13, 2022 (156)
42 HUGCELL_USP ss5500081159 Oct 13, 2022 (156)
43 HUGCELL_USP ss5500081160 Oct 13, 2022 (156)
44 TOMMO_GENOMICS ss5787041696 Oct 13, 2022 (156)
45 TOMMO_GENOMICS ss5787041697 Oct 13, 2022 (156)
46 TOMMO_GENOMICS ss5787041698 Oct 13, 2022 (156)
47 TOMMO_GENOMICS ss5787041700 Oct 13, 2022 (156)
48 EVA ss5840691492 Oct 13, 2022 (156)
49 EVA ss5840691493 Oct 13, 2022 (156)
50 EVA ss5981064284 Oct 13, 2022 (156)
51 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 42618509 (NC_000019.9:53004131:T: 2388/3854)
Row 42618510 (NC_000019.9:53004130:TTT: 1460/3854)

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

Submission ignored due to conflicting rows:
Row 42618509 (NC_000019.9:53004131:T: 2388/3854)
Row 42618510 (NC_000019.9:53004130:TTT: 1460/3854)

- Oct 12, 2018 (152)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 542898976 (NC_000019.10:52500877::T 10/107804)
Row 542898978 (NC_000019.10:52500877:T: 36136/107340)
Row 542898979 (NC_000019.10:52500877:TT: 34146/107616)...

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

Submission ignored due to conflicting rows:
Row 542898976 (NC_000019.10:52500877::T 10/107804)
Row 542898978 (NC_000019.10:52500877:T: 36136/107340)
Row 542898979 (NC_000019.10:52500877:TT: 34146/107616)...

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

Submission ignored due to conflicting rows:
Row 542898976 (NC_000019.10:52500877::T 10/107804)
Row 542898978 (NC_000019.10:52500877:T: 36136/107340)
Row 542898979 (NC_000019.10:52500877:TT: 34146/107616)...

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

Submission ignored due to conflicting rows:
Row 542898976 (NC_000019.10:52500877::T 10/107804)
Row 542898978 (NC_000019.10:52500877:T: 36136/107340)
Row 542898979 (NC_000019.10:52500877:TT: 34146/107616)...

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

Submission ignored due to conflicting rows:
Row 542898976 (NC_000019.10:52500877::T 10/107804)
Row 542898978 (NC_000019.10:52500877:T: 36136/107340)
Row 542898979 (NC_000019.10:52500877:TT: 34146/107616)...

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

Submission ignored due to conflicting rows:
Row 542898976 (NC_000019.10:52500877::T 10/107804)
Row 542898978 (NC_000019.10:52500877:T: 36136/107340)
Row 542898979 (NC_000019.10:52500877:TT: 34146/107616)...

- Apr 27, 2021 (155)
59 8.3KJPN

Submission ignored due to conflicting rows:
Row 86213531 (NC_000019.9:53004130:TTT: 205/15976)
Row 86213532 (NC_000019.9:53004130:TT: 7295/15976)
Row 86213533 (NC_000019.9:53004130:T: 5749/15976)...

- Apr 27, 2021 (155)
60 8.3KJPN

Submission ignored due to conflicting rows:
Row 86213531 (NC_000019.9:53004130:TTT: 205/15976)
Row 86213532 (NC_000019.9:53004130:TT: 7295/15976)
Row 86213533 (NC_000019.9:53004130:T: 5749/15976)...

- Apr 27, 2021 (155)
61 8.3KJPN

Submission ignored due to conflicting rows:
Row 86213531 (NC_000019.9:53004130:TTT: 205/15976)
Row 86213532 (NC_000019.9:53004130:TT: 7295/15976)
Row 86213533 (NC_000019.9:53004130:T: 5749/15976)...

- Apr 27, 2021 (155)
62 8.3KJPN

Submission ignored due to conflicting rows:
Row 86213531 (NC_000019.9:53004130:TTT: 205/15976)
Row 86213532 (NC_000019.9:53004130:TT: 7295/15976)
Row 86213533 (NC_000019.9:53004130:T: 5749/15976)...

- Apr 27, 2021 (155)
63 14KJPN

Submission ignored due to conflicting rows:
Row 120878800 (NC_000019.10:52500877:T: 10362/28052)
Row 120878801 (NC_000019.10:52500877:TT: 13288/28052)
Row 120878802 (NC_000019.10:52500877:TTTT: 681/28052)...

- Oct 13, 2022 (156)
64 14KJPN

Submission ignored due to conflicting rows:
Row 120878800 (NC_000019.10:52500877:T: 10362/28052)
Row 120878801 (NC_000019.10:52500877:TT: 13288/28052)
Row 120878802 (NC_000019.10:52500877:TTTT: 681/28052)...

- Oct 13, 2022 (156)
65 14KJPN

Submission ignored due to conflicting rows:
Row 120878800 (NC_000019.10:52500877:T: 10362/28052)
Row 120878801 (NC_000019.10:52500877:TT: 13288/28052)
Row 120878802 (NC_000019.10:52500877:TTTT: 681/28052)...

- Oct 13, 2022 (156)
66 14KJPN

Submission ignored due to conflicting rows:
Row 120878800 (NC_000019.10:52500877:T: 10362/28052)
Row 120878801 (NC_000019.10:52500877:TT: 13288/28052)
Row 120878802 (NC_000019.10:52500877:TTTT: 681/28052)...

- Oct 13, 2022 (156)
67 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 42618509 (NC_000019.9:53004131:T: 2299/3708)
Row 42618510 (NC_000019.9:53004130:TTT: 1404/3708)

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

Submission ignored due to conflicting rows:
Row 42618509 (NC_000019.9:53004131:T: 2299/3708)
Row 42618510 (NC_000019.9:53004130:TTT: 1404/3708)

- Oct 12, 2018 (152)
69 ALFA NC_000019.10 - 52500878 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)
rs200114662 May 11, 2012 (137)
rs33951603 May 23, 2006 (127)
rs57576919 May 23, 2008 (130)
rs139472385 Aug 21, 2014 (142)
rs796926775 Sep 11, 2015 (146)
rs58906502 May 11, 2012 (137)
rs397788978 Aug 21, 2014 (142)
rs796635202 Sep 11, 2015 (146)
rs869084085 Sep 14, 2016 (149)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
6954943596 NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss1809355066 NC_000019.9:53004130:TTTTT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4332948701, ss5307618443, ss5500081160 NC_000019.10:52500877:TTTTT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
6954943596 NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss5228244227 NC_000019.9:53004130:TTTT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss3702968995, ss4332948700, ss5307618445, ss5787041698 NC_000019.10:52500877:TTTT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
6954943596 NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss289393837 NC_000019.8:57695942:TTT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss1709243598, ss1709243720, ss5228244224, ss5840691493, ss5981064284 NC_000019.9:53004130:TTT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4332948699, ss5307618444, ss5500081159, ss5787041700 NC_000019.10:52500877:TTT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
6954943596 NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3702968996 NC_000019.10:52500878:TTT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss82009807, ss294966940 NC_000019.8:57695959:TT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3788560111, ss3835514396, ss5228244225, ss5840691492 NC_000019.9:53004130:TT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss1710798159, ss1710798160 NC_000019.9:53004131:TT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3064769341, ss4332948698, ss5307618442, ss5500081157, ss5787041697 NC_000019.10:52500877:TT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
6954943596 NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3702968997 NC_000019.10:52500879:TT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss40979262 NT_011109.16:25272348:TT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss80725547, ss81879511, ss294966941 NC_000019.8:57695960:T: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3793465454, ss3798352405, ss5228244226 NC_000019.9:53004130:T: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
NC_000019.9:53004131:T: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4332948697, ss5307618441, ss5500081158, ss5787041696 NC_000019.10:52500877:T: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
6954943596 NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3702968998 NC_000019.10:52500880:T: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss40979262 NT_011109.16:25272348:TT:T NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss96282682 NT_011109.16:25272366:T: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4332948695 NC_000019.10:52500877::T NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
6954943596 NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3702968999 NC_000019.10:52500881::T NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3702969000 NC_000019.10:52500881::TTTTTTTT NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3295869856 NC_000019.10:52500877:TTTTTT: NC_000019.10:52500877:TTTTTTTTTTTT…

NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

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 rs10594903

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