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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.

rs201942185

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:1433011-1433057 (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(GCCGCTGCCCCTCACC)2 / delGCCGCT…

del(GCCGCTGCCCCTCACC)2 / delGCCGCTG(C)4TCACC / dupGCCGCTG(C)4TCACC / dup(GCCGCTGCCCCTCACC)2 / ins(GCCGCTGCCCCTCACC)3 / ins(GCCGCTGCCCCTCACC)4 / ins(GCCGCTGCCCCTCACC)5

Variation Type
Indel Insertion and Deletion
Frequency
delGCCGCTG(C)4TCACC=0.00639 (95/14878, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LINC01770 : Intron Variant
LOC107985729 : 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 Alt HMOZ HTRZ HWEP
Total Global 14878 CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.99335 CCGCTGCCCCTCACC=0.00000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00639, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00007, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00020 0.987223 0.0 0.012777 0
European Sub 11840 CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.99164 CCGCTGCCCCTCACC=0.00000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00802, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00008, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00025 0.983942 0.0 0.016058 0
African Sub 1774 CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=1.0000 CCGCTGCCCCTCACC=0.0000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.0000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.0000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.0000 1.0 0.0 0.0 N/A
African Others Sub 70 CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=1.00 CCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00 1.0 0.0 0.0 N/A
African American Sub 1704 CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=1.0000 CCGCTGCCCCTCACC=0.0000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.0000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.0000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.0000 1.0 0.0 0.0 N/A
Asian Sub 74 CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=1.00 CCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00 1.0 0.0 0.0 N/A
East Asian Sub 60 CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=1.00 CCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 14 CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=1.00 CCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 128 CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=1.000 CCGCTGCCCCTCACC=0.000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 566 CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=1.000 CCGCTGCCCCTCACC=0.000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 84 CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=1.00 CCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00 1.0 0.0 0.0 N/A
Other Sub 412 CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=1.000 CCGCTGCCCCTCACC=0.000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.000, CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=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 14878 (CCGCTGCCCCTCACCG)2CCGCTG(C)4TCACC=0.99335 del(GCCGCTGCCCCTCACC)2=0.00000, delGCCGCTG(C)4TCACC=0.00639, dupGCCGCTG(C)4TCACC=0.00020, ins(GCCGCTGCCCCTCACC)3=0.00007
Allele Frequency Aggregator European Sub 11840 (CCGCTGCCCCTCACCG)2CCGCTG(C)4TCACC=0.99164 del(GCCGCTGCCCCTCACC)2=0.00000, delGCCGCTG(C)4TCACC=0.00802, dupGCCGCTG(C)4TCACC=0.00025, ins(GCCGCTGCCCCTCACC)3=0.00008
Allele Frequency Aggregator African Sub 1774 (CCGCTGCCCCTCACCG)2CCGCTG(C)4TCACC=1.0000 del(GCCGCTGCCCCTCACC)2=0.0000, delGCCGCTG(C)4TCACC=0.0000, dupGCCGCTG(C)4TCACC=0.0000, ins(GCCGCTGCCCCTCACC)3=0.0000
Allele Frequency Aggregator Latin American 2 Sub 566 (CCGCTGCCCCTCACCG)2CCGCTG(C)4TCACC=1.000 del(GCCGCTGCCCCTCACC)2=0.000, delGCCGCTG(C)4TCACC=0.000, dupGCCGCTG(C)4TCACC=0.000, ins(GCCGCTGCCCCTCACC)3=0.000
Allele Frequency Aggregator Other Sub 412 (CCGCTGCCCCTCACCG)2CCGCTG(C)4TCACC=1.000 del(GCCGCTGCCCCTCACC)2=0.000, delGCCGCTG(C)4TCACC=0.000, dupGCCGCTG(C)4TCACC=0.000, ins(GCCGCTGCCCCTCACC)3=0.000
Allele Frequency Aggregator Latin American 1 Sub 128 (CCGCTGCCCCTCACCG)2CCGCTG(C)4TCACC=1.000 del(GCCGCTGCCCCTCACC)2=0.000, delGCCGCTG(C)4TCACC=0.000, dupGCCGCTG(C)4TCACC=0.000, ins(GCCGCTGCCCCTCACC)3=0.000
Allele Frequency Aggregator South Asian Sub 84 (CCGCTGCCCCTCACCG)2CCGCTG(C)4TCACC=1.00 del(GCCGCTGCCCCTCACC)2=0.00, delGCCGCTG(C)4TCACC=0.00, dupGCCGCTG(C)4TCACC=0.00, ins(GCCGCTGCCCCTCACC)3=0.00
Allele Frequency Aggregator Asian Sub 74 (CCGCTGCCCCTCACCG)2CCGCTG(C)4TCACC=1.00 del(GCCGCTGCCCCTCACC)2=0.00, delGCCGCTG(C)4TCACC=0.00, dupGCCGCTG(C)4TCACC=0.00, ins(GCCGCTGCCCCTCACC)3=0.00
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 1 NC_000001.11:g.1433026_1433057del
GRCh38.p14 chr 1 NC_000001.11:g.1433026GCCGCTGCCCCTCACC[1]
GRCh38.p14 chr 1 NC_000001.11:g.1433026GCCGCTGCCCCTCACC[3]
GRCh38.p14 chr 1 NC_000001.11:g.1433026GCCGCTGCCCCTCACC[4]
GRCh38.p14 chr 1 NC_000001.11:g.1433026GCCGCTGCCCCTCACC[5]
GRCh38.p14 chr 1 NC_000001.11:g.1433026GCCGCTGCCCCTCACC[6]
GRCh38.p14 chr 1 NC_000001.11:g.1433026GCCGCTGCCCCTCACC[7]
GRCh37.p13 chr 1 NC_000001.10:g.1368406_1368437del
GRCh37.p13 chr 1 NC_000001.10:g.1368406GCCGCTGCCCCTCACC[1]
GRCh37.p13 chr 1 NC_000001.10:g.1368406GCCGCTGCCCCTCACC[3]
GRCh37.p13 chr 1 NC_000001.10:g.1368406GCCGCTGCCCCTCACC[4]
GRCh37.p13 chr 1 NC_000001.10:g.1368406GCCGCTGCCCCTCACC[5]
GRCh37.p13 chr 1 NC_000001.10:g.1368406GCCGCTGCCCCTCACC[6]
GRCh37.p13 chr 1 NC_000001.10:g.1368406GCCGCTGCCCCTCACC[7]
Gene: LINC01770, long intergenic non-protein coding RNA 1770 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LINC01770 transcript variant 1 NR_125994.1:n. N/A Intron Variant
LINC01770 transcript variant 2 NR_125995.1:n. N/A Intron Variant
LINC01770 transcript variant 3 NR_125996.1:n. N/A Intron Variant
Gene: LOC107985729, uncharacterized LOC107985729 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC107985729 transcript XM_017003066.2:c. N/A Upstream Transcript 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 (CCGCTGCCCCTCACCG)2CCGCTG(C)4TCACC= del(GCCGCTGCCCCTCACC)2 delGCCGCTG(C)4TCACC dupGCCGCTG(C)4TCACC dup(GCCGCTGCCCCTCACC)2 ins(GCCGCTGCCCCTCACC)3 ins(GCCGCTGCCCCTCACC)4 ins(GCCGCTGCCCCTCACC)5
GRCh38.p14 chr 1 NC_000001.11:g.1433011_1433057= NC_000001.11:g.1433026_1433057del NC_000001.11:g.1433026GCCGCTGCCCCTCACC[1] NC_000001.11:g.1433026GCCGCTGCCCCTCACC[3] NC_000001.11:g.1433026GCCGCTGCCCCTCACC[4] NC_000001.11:g.1433026GCCGCTGCCCCTCACC[5] NC_000001.11:g.1433026GCCGCTGCCCCTCACC[6] NC_000001.11:g.1433026GCCGCTGCCCCTCACC[7]
GRCh37.p13 chr 1 NC_000001.10:g.1368391_1368437= NC_000001.10:g.1368406_1368437del NC_000001.10:g.1368406GCCGCTGCCCCTCACC[1] NC_000001.10:g.1368406GCCGCTGCCCCTCACC[3] NC_000001.10:g.1368406GCCGCTGCCCCTCACC[4] NC_000001.10:g.1368406GCCGCTGCCCCTCACC[5] NC_000001.10:g.1368406GCCGCTGCCCCTCACC[6] NC_000001.10:g.1368406GCCGCTGCCCCTCACC[7]
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#.

31 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss498764181 May 04, 2012 (137)
2 SWEGEN ss2986159765 Nov 08, 2017 (151)
3 EVA_DECODE ss3686004868 Jul 12, 2019 (153)
4 EVA_DECODE ss3686004869 Jul 12, 2019 (153)
5 EVA_DECODE ss3686004870 Jul 12, 2019 (153)
6 ACPOP ss3726721553 Jul 12, 2019 (153)
7 ACPOP ss3726721554 Jul 12, 2019 (153)
8 KOGIC ss3943643814 Apr 25, 2020 (154)
9 KOGIC ss3943643815 Apr 25, 2020 (154)
10 GNOMAD ss3987019839 Apr 25, 2021 (155)
11 GNOMAD ss3987019840 Apr 25, 2021 (155)
12 GNOMAD ss3987019841 Apr 25, 2021 (155)
13 GNOMAD ss3987019843 Apr 25, 2021 (155)
14 GNOMAD ss3987019844 Apr 25, 2021 (155)
15 TOMMO_GENOMICS ss5142083379 Apr 25, 2021 (155)
16 TOMMO_GENOMICS ss5142083380 Apr 25, 2021 (155)
17 TOMMO_GENOMICS ss5142083381 Apr 25, 2021 (155)
18 TOMMO_GENOMICS ss5142083382 Apr 25, 2021 (155)
19 1000G_HIGH_COVERAGE ss5240885354 Oct 12, 2022 (156)
20 HUGCELL_USP ss5442130312 Oct 12, 2022 (156)
21 HUGCELL_USP ss5442130313 Oct 12, 2022 (156)
22 HUGCELL_USP ss5442130314 Oct 12, 2022 (156)
23 TOMMO_GENOMICS ss5666234419 Oct 12, 2022 (156)
24 TOMMO_GENOMICS ss5666234420 Oct 12, 2022 (156)
25 TOMMO_GENOMICS ss5666234421 Oct 12, 2022 (156)
26 TOMMO_GENOMICS ss5666234422 Oct 12, 2022 (156)
27 TOMMO_GENOMICS ss5666234424 Oct 12, 2022 (156)
28 EVA ss5831427996 Oct 12, 2022 (156)
29 EVA ss5848750898 Oct 12, 2022 (156)
30 EVA ss5906727694 Oct 12, 2022 (156)
31 EVA ss5936593517 Oct 12, 2022 (156)
32 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 232896 (NC_000001.11:1433010::CCGCTGCCCCTCACCG 3341/134034)
Row 232898 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 158/134056)
Row 232902 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 5/134056)...

- Apr 25, 2021 (155)
33 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 232896 (NC_000001.11:1433010::CCGCTGCCCCTCACCG 3341/134034)
Row 232898 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 158/134056)
Row 232902 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 5/134056)...

- Apr 25, 2021 (155)
34 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 232896 (NC_000001.11:1433010::CCGCTGCCCCTCACCG 3341/134034)
Row 232898 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 158/134056)
Row 232902 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 5/134056)...

- Apr 25, 2021 (155)
35 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 232896 (NC_000001.11:1433010::CCGCTGCCCCTCACCG 3341/134034)
Row 232898 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 158/134056)
Row 232902 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 5/134056)...

- Apr 25, 2021 (155)
36 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 232896 (NC_000001.11:1433010::CCGCTGCCCCTCACCG 3341/134034)
Row 232898 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 158/134056)
Row 232902 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 5/134056)...

- Apr 25, 2021 (155)
37 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 232896 (NC_000001.11:1433010::CCGCTGCCCCTCACCG 3341/134034)
Row 232898 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 158/134056)
Row 232902 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 5/134056)...

- Apr 25, 2021 (155)
38 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 232896 (NC_000001.11:1433010::CCGCTGCCCCTCACCG 3341/134034)
Row 232898 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 158/134056)
Row 232902 (NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCG 5/134056)...

- Apr 25, 2021 (155)
39 Korean Genome Project

Submission ignored due to conflicting rows:
Row 21815 (NC_000001.11:1433010:CCGCTGCCCCTCACCG: 3/1790)
Row 21816 (NC_000001.11:1433026::CCGCTGCCCCTCACCG 13/1790)

- Apr 25, 2020 (154)
40 Korean Genome Project

Submission ignored due to conflicting rows:
Row 21815 (NC_000001.11:1433010:CCGCTGCCCCTCACCG: 3/1790)
Row 21816 (NC_000001.11:1433026::CCGCTGCCCCTCACCG 13/1790)

- Apr 25, 2020 (154)
41 Northern Sweden

Submission ignored due to conflicting rows:
Row 6418 (NC_000001.10:1368390:CCGCTGCCCCTCACCG: 26/600)
Row 6419 (NC_000001.10:1368390::CCGCTGCCCCTCACCG 5/600)

- Jul 12, 2019 (153)
42 Northern Sweden

Submission ignored due to conflicting rows:
Row 6418 (NC_000001.10:1368390:CCGCTGCCCCTCACCG: 26/600)
Row 6419 (NC_000001.10:1368390::CCGCTGCCCCTCACCG 5/600)

- Jul 12, 2019 (153)
43 8.3KJPN

Submission ignored due to conflicting rows:
Row 52686 (NC_000001.10:1368390:CCGCTGCCCCTCACCG: 142/16508)
Row 52687 (NC_000001.10:1368390::CCGCTGCCCCTCACCG 35/16508)
Row 52688 (NC_000001.10:1368390:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG: 1/16508)...

- Apr 25, 2021 (155)
44 8.3KJPN

Submission ignored due to conflicting rows:
Row 52686 (NC_000001.10:1368390:CCGCTGCCCCTCACCG: 142/16508)
Row 52687 (NC_000001.10:1368390::CCGCTGCCCCTCACCG 35/16508)
Row 52688 (NC_000001.10:1368390:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG: 1/16508)...

- Apr 25, 2021 (155)
45 8.3KJPN

Submission ignored due to conflicting rows:
Row 52686 (NC_000001.10:1368390:CCGCTGCCCCTCACCG: 142/16508)
Row 52687 (NC_000001.10:1368390::CCGCTGCCCCTCACCG 35/16508)
Row 52688 (NC_000001.10:1368390:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG: 1/16508)...

- Apr 25, 2021 (155)
46 8.3KJPN

Submission ignored due to conflicting rows:
Row 52686 (NC_000001.10:1368390:CCGCTGCCCCTCACCG: 142/16508)
Row 52687 (NC_000001.10:1368390::CCGCTGCCCCTCACCG 35/16508)
Row 52688 (NC_000001.10:1368390:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG: 1/16508)...

- Apr 25, 2021 (155)
47 14KJPN

Submission ignored due to conflicting rows:
Row 71523 (NC_000001.11:1433010:CCGCTGCCCCTCACCG: 261/28210)
Row 71524 (NC_000001.11:1433010::CCGCTGCCCCTCACCG 59/28210)
Row 71525 (NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG: 1/28210)...

- Oct 12, 2022 (156)
48 14KJPN

Submission ignored due to conflicting rows:
Row 71523 (NC_000001.11:1433010:CCGCTGCCCCTCACCG: 261/28210)
Row 71524 (NC_000001.11:1433010::CCGCTGCCCCTCACCG 59/28210)
Row 71525 (NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG: 1/28210)...

- Oct 12, 2022 (156)
49 14KJPN

Submission ignored due to conflicting rows:
Row 71523 (NC_000001.11:1433010:CCGCTGCCCCTCACCG: 261/28210)
Row 71524 (NC_000001.11:1433010::CCGCTGCCCCTCACCG 59/28210)
Row 71525 (NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG: 1/28210)...

- Oct 12, 2022 (156)
50 14KJPN

Submission ignored due to conflicting rows:
Row 71523 (NC_000001.11:1433010:CCGCTGCCCCTCACCG: 261/28210)
Row 71524 (NC_000001.11:1433010::CCGCTGCCCCTCACCG 59/28210)
Row 71525 (NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG: 1/28210)...

- Oct 12, 2022 (156)
51 14KJPN

Submission ignored due to conflicting rows:
Row 71523 (NC_000001.11:1433010:CCGCTGCCCCTCACCG: 261/28210)
Row 71524 (NC_000001.11:1433010::CCGCTGCCCCTCACCG 59/28210)
Row 71525 (NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG: 1/28210)...

- Oct 12, 2022 (156)
52 ALFA NC_000001.11 - 1433011 Apr 25, 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
ss5142083381 NC_000001.10:1368390:CCGCTGCCCCTCA…

NC_000001.10:1368390:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG:

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACC

(self)
ss3686004870, ss3987019844, ss5666234421 NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG:

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACC

(self)
10392323354 NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACC

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACC

(self)
ss498764181, ss2986159765, ss3726721553, ss5142083379, ss5831427996, ss5936593517 NC_000001.10:1368390:CCGCTGCCCCTCA…

NC_000001.10:1368390:CCGCTGCCCCTCACCG:

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
ss3943643814, ss3987019843, ss5240885354, ss5442130313, ss5666234419, ss5848750898, ss5906727694 NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCG:

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
10392323354 NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACC

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
ss3686004869 NC_000001.11:1433026:CCGCTGCCCCTCA…

NC_000001.11:1433026:CCGCTGCCCCTCACCG:

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
ss3726721554, ss5142083380 NC_000001.10:1368390::CCGCTGCCCCTC…

NC_000001.10:1368390::CCGCTGCCCCTCACCG

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
ss3987019839, ss5442130312, ss5666234420 NC_000001.11:1433010::CCGCTGCCCCTC…

NC_000001.11:1433010::CCGCTGCCCCTCACCG

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
10392323354 NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
ss3943643815 NC_000001.11:1433026::CCGCTGCCCCTC…

NC_000001.11:1433026::CCGCTGCCCCTCACCG

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
ss3686004868 NC_000001.11:1433042::CCGCTGCCCCTC…

NC_000001.11:1433042::CCGCTGCCCCTCACCG

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
ss3987019840, ss5442130314, ss5666234424 NC_000001.11:1433010::CCGCTGCCCCTC…

NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCG

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
ss5142083382 NC_000001.10:1368390::CCGCTGCCCCTC…

NC_000001.10:1368390::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCG

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
ss3987019841, ss5666234422 NC_000001.11:1433010::CCGCTGCCCCTC…

NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCG

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
10392323354 NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
NC_000001.11:1433010::CCGCTGCCCCTC…

NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCG

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(self)
NC_000001.11:1433010::CCGCTGCCCCTC…

NC_000001.11:1433010::CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCG

NC_000001.11:1433010:CCGCTGCCCCTCA…

NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC

(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 rs201942185

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