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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.

rs61229695

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:102473117-102473125 (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(G)6 / delGG / delG / dupG / du…

del(G)6 / delGG / delG / dupG / dupGG / dupGGG / dup(G)4

Variation Type
Indel Insertion and Deletion
Frequency
delG=0.4182 (2650/6336, ALFA)
(G)9=0.4042 (1798/4448, Estonian)
(G)9=0.2865 (1104/3854, ALSPAC) (+ 4 more)
(G)9=0.2705 (1003/3708, TWINSUK)
(G)9=0.0048 (12/2495, 1000G)
(G)9=0.290 (289/998, GoNL)
(G)9=0.42 (17/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LRWD1 : 3 Prime UTR Variant
POLR2J : 500B Downstream 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 6336 GGGGGGGGG=0.5792 GGG=0.0000, GGGGGGG=0.0000, GGGGGGGG=0.4182, GGGGGGGGGG=0.0025, GGGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000 0.416429 0.253727 0.329845 32
European Sub 5154 GGGGGGGGG=0.4837 GGG=0.0000, GGGGGGG=0.0000, GGGGGGGG=0.5132, GGGGGGGGGG=0.0031, GGGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000 0.282982 0.311475 0.405543 32
African Sub 942 GGGGGGGGG=1.000 GGG=0.000, GGGGGGG=0.000, GGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000 1.0 0.0 0.0 N/A
African Others Sub 40 GGGGGGGGG=1.00 GGG=0.00, GGGGGGG=0.00, GGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00 1.0 0.0 0.0 N/A
African American Sub 902 GGGGGGGGG=1.000 GGG=0.000, GGGGGGG=0.000, GGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000 1.0 0.0 0.0 N/A
Asian Sub 30 GGGGGGGGG=1.00 GGG=0.00, GGGGGGG=0.00, GGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00 1.0 0.0 0.0 N/A
East Asian Sub 24 GGGGGGGGG=1.00 GGG=0.00, GGGGGGG=0.00, GGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 6 GGGGGGGGG=1.0 GGG=0.0, GGGGGGG=0.0, GGGGGGGG=0.0, GGGGGGGGGG=0.0, GGGGGGGGGGG=0.0, GGGGGGGGGGGG=0.0, GGGGGGGGGGGGG=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 18 GGGGGGGGG=1.00 GGG=0.00, GGGGGGG=0.00, GGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 80 GGGGGGGGG=1.00 GGG=0.00, GGGGGGG=0.00, GGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00 1.0 0.0 0.0 N/A
South Asian Sub 26 GGGGGGGGG=1.00 GGG=0.00, GGGGGGG=0.00, GGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00 1.0 0.0 0.0 N/A
Other Sub 86 GGGGGGGGG=0.94 GGG=0.00, GGGGGGG=0.00, GGGGGGGG=0.06, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00 0.930233 0.046512 0.023256 15


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 6336 (G)9=0.5792 del(G)6=0.0000, delGG=0.0000, delG=0.4182, dupG=0.0025, dupGG=0.0000, dupGGG=0.0000, dup(G)4=0.0000
Allele Frequency Aggregator European Sub 5154 (G)9=0.4837 del(G)6=0.0000, delGG=0.0000, delG=0.5132, dupG=0.0031, dupGG=0.0000, dupGGG=0.0000, dup(G)4=0.0000
Allele Frequency Aggregator African Sub 942 (G)9=1.000 del(G)6=0.000, delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)4=0.000
Allele Frequency Aggregator Other Sub 86 (G)9=0.94 del(G)6=0.00, delGG=0.00, delG=0.06, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)4=0.00
Allele Frequency Aggregator Latin American 2 Sub 80 (G)9=1.00 del(G)6=0.00, delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)4=0.00
Allele Frequency Aggregator Asian Sub 30 (G)9=1.00 del(G)6=0.00, delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)4=0.00
Allele Frequency Aggregator South Asian Sub 26 (G)9=1.00 del(G)6=0.00, delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 18 (G)9=1.00 del(G)6=0.00, delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)4=0.00
Genetic variation in the Estonian population Estonian Study-wide 4448 (G)9=0.4042 delG=0.5958
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (G)9=0.2865 delG=0.7135
UK 10K study - Twins TWIN COHORT Study-wide 3708 (G)9=0.2705 delG=0.7295
1000Genomes Global Study-wide 2495 (G)9=0.0048 delG=0.9952
1000Genomes Europe Sub 712 (G)9=0.007 delG=0.993
1000Genomes South Asian Sub 501 (G)9=0.004 delG=0.996
1000Genomes African Sub 498 (G)9=0.004 delG=0.996
1000Genomes American Sub 407 (G)9=0.007 delG=0.993
1000Genomes East Asian Sub 377 (G)9=0.000 delG=1.000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 (G)9=0.290 delG=0.710
The Danish reference pan genome Danish Study-wide 40 (G)9=0.42 delG=0.57
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 7 NC_000007.14:g.102473120_102473125del
GRCh38.p14 chr 7 NC_000007.14:g.102473124_102473125del
GRCh38.p14 chr 7 NC_000007.14:g.102473125del
GRCh38.p14 chr 7 NC_000007.14:g.102473125dup
GRCh38.p14 chr 7 NC_000007.14:g.102473124_102473125dup
GRCh38.p14 chr 7 NC_000007.14:g.102473123_102473125dup
GRCh38.p14 chr 7 NC_000007.14:g.102473122_102473125dup
GRCh37.p13 chr 7 NC_000007.13:g.102113567_102113572del
GRCh37.p13 chr 7 NC_000007.13:g.102113571_102113572del
GRCh37.p13 chr 7 NC_000007.13:g.102113572del
GRCh37.p13 chr 7 NC_000007.13:g.102113572dup
GRCh37.p13 chr 7 NC_000007.13:g.102113571_102113572dup
GRCh37.p13 chr 7 NC_000007.13:g.102113570_102113572dup
GRCh37.p13 chr 7 NC_000007.13:g.102113569_102113572dup
Gene: LRWD1, leucine rich repeats and WD repeat domain containing 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LRWD1 transcript variant 1 NM_152892.3:c.*68_*76= N/A 3 Prime UTR Variant
LRWD1 transcript variant 2 NM_001317721.2:c.*68_*76= N/A 3 Prime UTR Variant
Gene: POLR2J, RNA polymerase II subunit J (minus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
POLR2J transcript variant 2 NM_001371100.1:c. N/A Downstream Transcript Variant
POLR2J transcript variant 4 NM_001393919.1:c. N/A Downstream Transcript Variant
POLR2J transcript variant 1 NM_006234.6:c. N/A Downstream Transcript Variant
POLR2J transcript variant 3 NR_163857.1:n. N/A Downstream Transcript Variant
POLR2J transcript variant X1 XM_017012353.2:c. N/A Downstream 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 (G)9= del(G)6 delGG delG dupG dupGG dupGGG dup(G)4
GRCh38.p14 chr 7 NC_000007.14:g.102473117_102473125= NC_000007.14:g.102473120_102473125del NC_000007.14:g.102473124_102473125del NC_000007.14:g.102473125del NC_000007.14:g.102473125dup NC_000007.14:g.102473124_102473125dup NC_000007.14:g.102473123_102473125dup NC_000007.14:g.102473122_102473125dup
GRCh37.p13 chr 7 NC_000007.13:g.102113564_102113572= NC_000007.13:g.102113567_102113572del NC_000007.13:g.102113571_102113572del NC_000007.13:g.102113572del NC_000007.13:g.102113572dup NC_000007.13:g.102113571_102113572dup NC_000007.13:g.102113570_102113572dup NC_000007.13:g.102113569_102113572dup
POLR2J transcript variant 1 NM_006234.5:c.*524_*532= NM_006234.5:c.*527_*532del NM_006234.5:c.*531_*532del NM_006234.5:c.*532del NM_006234.5:c.*532dup NM_006234.5:c.*531_*532dup NM_006234.5:c.*530_*532dup NM_006234.5:c.*529_*532dup
POLR2J transcript NM_006234.4:c.*524_*532= NM_006234.4:c.*527_*532del NM_006234.4:c.*531_*532del NM_006234.4:c.*532del NM_006234.4:c.*532dup NM_006234.4:c.*531_*532dup NM_006234.4:c.*530_*532dup NM_006234.4:c.*529_*532dup
LRWD1 transcript variant 1 NM_152892.3:c.*68_*76= NM_152892.3:c.*71_*76del NM_152892.3:c.*75_*76del NM_152892.3:c.*76del NM_152892.3:c.*76dup NM_152892.3:c.*75_*76dup NM_152892.3:c.*74_*76dup NM_152892.3:c.*73_*76dup
LRWD1 transcript variant 1 NM_152892.2:c.*68_*76= NM_152892.2:c.*71_*76del NM_152892.2:c.*75_*76del NM_152892.2:c.*76del NM_152892.2:c.*76dup NM_152892.2:c.*75_*76dup NM_152892.2:c.*74_*76dup NM_152892.2:c.*73_*76dup
LRWD1 transcript NM_152892.1:c.*68_*76= NM_152892.1:c.*71_*76del NM_152892.1:c.*75_*76del NM_152892.1:c.*76del NM_152892.1:c.*76dup NM_152892.1:c.*75_*76dup NM_152892.1:c.*74_*76dup NM_152892.1:c.*73_*76dup
LRWD1 transcript variant 2 NM_001317721.2:c.*68_*76= NM_001317721.2:c.*71_*76del NM_001317721.2:c.*75_*76del NM_001317721.2:c.*76del NM_001317721.2:c.*76dup NM_001317721.2:c.*75_*76dup NM_001317721.2:c.*74_*76dup NM_001317721.2:c.*73_*76dup
LRWD1 transcript variant 2 NM_001317721.1:c.*68_*76= NM_001317721.1:c.*71_*76del NM_001317721.1:c.*75_*76del NM_001317721.1:c.*76del NM_001317721.1:c.*76dup NM_001317721.1:c.*75_*76dup NM_001317721.1:c.*74_*76dup NM_001317721.1:c.*73_*76dup
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#.

74 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss80995424 Sep 08, 2015 (146)
2 HGSV ss80995429 Sep 08, 2015 (146)
3 HUMANGENOME_JCVI ss95470166 Dec 05, 2013 (138)
4 BL ss256081761 May 09, 2011 (137)
5 GMI ss287817623 May 09, 2011 (137)
6 GMI ss288862015 May 04, 2012 (137)
7 PJP ss295349049 May 09, 2011 (137)
8 PJP ss295349050 May 09, 2011 (134)
9 1000GENOMES ss326970129 May 09, 2011 (137)
10 1000GENOMES ss327024837 May 09, 2011 (137)
11 1000GENOMES ss327320792 May 09, 2011 (137)
12 LUNTER ss551767730 Apr 25, 2013 (138)
13 LUNTER ss551973103 Apr 25, 2013 (138)
14 LUNTER ss553310704 Apr 25, 2013 (138)
15 SSMP ss663730110 Apr 01, 2015 (144)
16 EVA-GONL ss984609649 Aug 21, 2014 (142)
17 1000GENOMES ss1377462603 Aug 21, 2014 (142)
18 1000GENOMES ss1377462606 Aug 21, 2014 (142)
19 DDI ss1536557878 Apr 01, 2015 (144)
20 EVA_GENOME_DK ss1577057214 Apr 01, 2015 (144)
21 EVA_UK10K_ALSPAC ss1705757593 Apr 01, 2015 (144)
22 EVA_UK10K_TWINSUK ss1705757779 Apr 01, 2015 (144)
23 HAMMER_LAB ss1805141705 Sep 08, 2015 (146)
24 SYSTEMSBIOZJU ss2626800581 Nov 08, 2017 (151)
25 SWEGEN ss3001744572 Nov 08, 2017 (151)
26 MCHAISSO ss3064267783 Nov 08, 2017 (151)
27 MCHAISSO ss3065151038 Nov 08, 2017 (151)
28 MCHAISSO ss3066160999 Nov 08, 2017 (151)
29 BEROUKHIMLAB ss3644245057 Oct 12, 2018 (152)
30 BIOINF_KMB_FNS_UNIBA ss3646047848 Oct 12, 2018 (152)
31 URBANLAB ss3648716244 Oct 12, 2018 (152)
32 EGCUT_WGS ss3669492268 Jul 13, 2019 (153)
33 EVA_DECODE ss3720343886 Jul 13, 2019 (153)
34 EVA_DECODE ss3720343887 Jul 13, 2019 (153)
35 ACPOP ss3734919600 Jul 13, 2019 (153)
36 ACPOP ss3734919601 Jul 13, 2019 (153)
37 PACBIO ss3785911308 Jul 13, 2019 (153)
38 PACBIO ss3791197766 Jul 13, 2019 (153)
39 PACBIO ss3796077812 Jul 13, 2019 (153)
40 KHV_HUMAN_GENOMES ss3810118590 Jul 13, 2019 (153)
41 EVA ss3830732326 Apr 26, 2020 (154)
42 EVA ss3838864789 Apr 26, 2020 (154)
43 EVA ss3844320256 Apr 26, 2020 (154)
44 FSA-LAB ss3984376570 Apr 26, 2021 (155)
45 FSA-LAB ss3984376571 Apr 26, 2021 (155)
46 EVA ss3986040868 Apr 26, 2021 (155)
47 GNOMAD ss4169796644 Apr 26, 2021 (155)
48 GNOMAD ss4169796645 Apr 26, 2021 (155)
49 GNOMAD ss4169796646 Apr 26, 2021 (155)
50 GNOMAD ss4169796647 Apr 26, 2021 (155)
51 EVA ss5141935364 Apr 26, 2021 (155)
52 TOMMO_GENOMICS ss5184765780 Apr 26, 2021 (155)
53 TOMMO_GENOMICS ss5184765781 Apr 26, 2021 (155)
54 TOMMO_GENOMICS ss5184765782 Apr 26, 2021 (155)
55 TOMMO_GENOMICS ss5184765783 Apr 26, 2021 (155)
56 EVA ss5237197722 Apr 26, 2021 (155)
57 1000G_HIGH_COVERAGE ss5274107788 Oct 16, 2022 (156)
58 1000G_HIGH_COVERAGE ss5274107789 Oct 16, 2022 (156)
59 1000G_HIGH_COVERAGE ss5274107790 Oct 16, 2022 (156)
60 HUGCELL_USP ss5471066471 Oct 16, 2022 (156)
61 HUGCELL_USP ss5471066472 Oct 16, 2022 (156)
62 EVA ss5623941383 Oct 16, 2022 (156)
63 EVA ss5624170240 Oct 16, 2022 (156)
64 TOMMO_GENOMICS ss5725518873 Oct 16, 2022 (156)
65 TOMMO_GENOMICS ss5725518874 Oct 16, 2022 (156)
66 TOMMO_GENOMICS ss5725518876 Oct 16, 2022 (156)
67 TOMMO_GENOMICS ss5725518877 Oct 16, 2022 (156)
68 EVA ss5800141393 Oct 16, 2022 (156)
69 EVA ss5823284303 Oct 16, 2022 (156)
70 EVA ss5848689525 Oct 16, 2022 (156)
71 EVA ss5856028895 Oct 16, 2022 (156)
72 EVA ss5860167017 Oct 16, 2022 (156)
73 EVA ss5972809993 Oct 16, 2022 (156)
74 EVA ss5980453956 Oct 16, 2022 (156)
75 1000Genomes NC_000007.13 - 102113564 Oct 12, 2018 (152)
76 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 102113564 Oct 12, 2018 (152)
77 Genetic variation in the Estonian population NC_000007.13 - 102113564 Oct 12, 2018 (152)
78 The Danish reference pan genome NC_000007.13 - 102113564 Apr 26, 2020 (154)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 271254032 (NC_000007.14:102473116::G 2211/136932)
Row 271254033 (NC_000007.14:102473116::GG 44/137172)
Row 271254034 (NC_000007.14:102473116::GGG 3/137180)...

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

Submission ignored due to conflicting rows:
Row 271254032 (NC_000007.14:102473116::G 2211/136932)
Row 271254033 (NC_000007.14:102473116::GG 44/137172)
Row 271254034 (NC_000007.14:102473116::GGG 3/137180)...

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

Submission ignored due to conflicting rows:
Row 271254032 (NC_000007.14:102473116::G 2211/136932)
Row 271254033 (NC_000007.14:102473116::GG 44/137172)
Row 271254034 (NC_000007.14:102473116::GGG 3/137180)...

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

Submission ignored due to conflicting rows:
Row 271254032 (NC_000007.14:102473116::G 2211/136932)
Row 271254033 (NC_000007.14:102473116::GG 44/137172)
Row 271254034 (NC_000007.14:102473116::GGG 3/137180)...

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

Submission ignored due to conflicting rows:
Row 271254032 (NC_000007.14:102473116::G 2211/136932)
Row 271254033 (NC_000007.14:102473116::GG 44/137172)
Row 271254034 (NC_000007.14:102473116::GGG 3/137180)...

- Apr 26, 2021 (155)
84 Genome of the Netherlands Release 5 NC_000007.13 - 102113564 Apr 26, 2020 (154)
85 Northern Sweden

Submission ignored due to conflicting rows:
Row 8204465 (NC_000007.13:102113563:G: 443/600)
Row 8204466 (NC_000007.13:102113563::G 1/600)

- Jul 13, 2019 (153)
86 Northern Sweden

Submission ignored due to conflicting rows:
Row 8204465 (NC_000007.13:102113563:G: 443/600)
Row 8204466 (NC_000007.13:102113563::G 1/600)

- Jul 13, 2019 (153)
87 8.3KJPN

Submission ignored due to conflicting rows:
Row 42735087 (NC_000007.13:102113563:G: 6312/16750)
Row 42735088 (NC_000007.13:102113563::G 329/16750)
Row 42735089 (NC_000007.13:102113563:GG: 1/16750)...

- Apr 26, 2021 (155)
88 8.3KJPN

Submission ignored due to conflicting rows:
Row 42735087 (NC_000007.13:102113563:G: 6312/16750)
Row 42735088 (NC_000007.13:102113563::G 329/16750)
Row 42735089 (NC_000007.13:102113563:GG: 1/16750)...

- Apr 26, 2021 (155)
89 8.3KJPN

Submission ignored due to conflicting rows:
Row 42735087 (NC_000007.13:102113563:G: 6312/16750)
Row 42735088 (NC_000007.13:102113563::G 329/16750)
Row 42735089 (NC_000007.13:102113563:GG: 1/16750)...

- Apr 26, 2021 (155)
90 8.3KJPN

Submission ignored due to conflicting rows:
Row 42735087 (NC_000007.13:102113563:G: 6312/16750)
Row 42735088 (NC_000007.13:102113563::G 329/16750)
Row 42735089 (NC_000007.13:102113563:GG: 1/16750)...

- Apr 26, 2021 (155)
91 14KJPN

Submission ignored due to conflicting rows:
Row 59355977 (NC_000007.14:102473116:G: 10687/28258)
Row 59355978 (NC_000007.14:102473116::G 582/28258)
Row 59355980 (NC_000007.14:102473116:GG: 1/28258)...

- Oct 16, 2022 (156)
92 14KJPN

Submission ignored due to conflicting rows:
Row 59355977 (NC_000007.14:102473116:G: 10687/28258)
Row 59355978 (NC_000007.14:102473116::G 582/28258)
Row 59355980 (NC_000007.14:102473116:GG: 1/28258)...

- Oct 16, 2022 (156)
93 14KJPN

Submission ignored due to conflicting rows:
Row 59355977 (NC_000007.14:102473116:G: 10687/28258)
Row 59355978 (NC_000007.14:102473116::G 582/28258)
Row 59355980 (NC_000007.14:102473116:GG: 1/28258)...

- Oct 16, 2022 (156)
94 14KJPN

Submission ignored due to conflicting rows:
Row 59355977 (NC_000007.14:102473116:G: 10687/28258)
Row 59355978 (NC_000007.14:102473116::G 582/28258)
Row 59355980 (NC_000007.14:102473116:GG: 1/28258)...

- Oct 16, 2022 (156)
95 UK 10K study - Twins NC_000007.13 - 102113564 Oct 12, 2018 (152)
96 ALFA NC_000007.14 - 102473117 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).

Associated ID History Updated (Build)
rs71720377 May 11, 2012 (137)
rs145902721 May 04, 2012 (137)
rs369726701 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
4072922311 NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGG

NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGG

(self)
ss3984376570, ss3984376571, ss5184765782 NC_000007.13:102113563:GG: NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGG

(self)
ss4169796647, ss5725518876 NC_000007.14:102473116:GG: NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGG

(self)
4072922311 NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGG

NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGG

(self)
ss80995424, ss80995429 NC_000007.11:101707291:G: NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGG

(self)
ss256081761, ss288862015, ss295349049, ss326970129, ss327024837, ss327320792, ss551767730, ss551973103, ss553310704 NC_000007.12:101900568:G: NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGG

(self)
ss295349050 NC_000007.12:101900576:G: NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGG

(self)
38434476, 21382730, 15230516, 1172596, 9544967, 21382730, ss663730110, ss984609649, ss1377462603, ss1536557878, ss1577057214, ss1705757593, ss1705757779, ss1805141705, ss2626800581, ss3001744572, ss3644245057, ss3669492268, ss3734919600, ss3785911308, ss3791197766, ss3796077812, ss3830732326, ss3838864789, ss3986040868, ss5184765780, ss5623941383, ss5624170240, ss5800141393, ss5823284303, ss5972809993, ss5980453956 NC_000007.13:102113563:G: NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGG

(self)
ss5848689525 NC_000007.13:102113571:G: NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGG

ss3064267783, ss3065151038, ss3066160999, ss3646047848, ss3648716244, ss3720343887, ss3810118590, ss3844320256, ss5141935364, ss5237197722, ss5274107788, ss5471066471, ss5725518873, ss5856028895, ss5860167017 NC_000007.14:102473116:G: NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGG

(self)
4072922311 NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGG

NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGG

(self)
ss287817623 NT_007933.15:40146406:G: NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGG

(self)
ss95470166 NT_007933.15:40146414:G: NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGG

(self)
ss3734919601, ss5184765781 NC_000007.13:102113563::G NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGG

(self)
ss1377462606 NC_000007.13:102113564::G NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGG

(self)
ss4169796644, ss5274107789, ss5471066472, ss5725518874 NC_000007.14:102473116::G NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGG

(self)
4072922311 NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGG

NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGG

(self)
ss3720343886 NC_000007.14:102473117::G NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGG

(self)
ss5184765783 NC_000007.13:102113563::GG NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGGG

(self)
ss4169796645, ss5274107790, ss5725518877 NC_000007.14:102473116::GG NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGGG

(self)
4072922311 NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGGG

NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGGG

(self)
ss4169796646 NC_000007.14:102473116::GGG NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGGGG

(self)
4072922311 NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGGGG

NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGGGG

(self)
4072922311 NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGGGGG

NC_000007.14:102473116:GGGGGGGGG:G…

NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGGGGG

(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 rs61229695

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