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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1107

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:72948424 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.429582 (113706/264690, TOPMED)
T=0.462097 (114614/248030, GnomAD_exome)
T=0.430133 (59927/139322, GnomAD) (+ 14 more)
T=0.459772 (55625/120984, ExAC)
T=0.46094 (22235/48238, ALFA)
C=0.46988 (13276/28254, 14KJPN)
C=0.47225 (7913/16756, 8.3KJPN)
T=0.48245 (6266/12988, GO-ESP)
T=0.4193 (2685/6404, 1000G_30x)
T=0.4269 (2138/5008, 1000G)
C=0.4768 (1397/2930, KOREAN)
C=0.4591 (841/1832, Korea1K)
C=0.486 (485/998, GoNL)
T=0.482 (289/600, NorthernSweden)
C=0.022 (12/534, MGP)
T=0.332 (140/422, SGDP_PRJ)
C=0.481 (104/216, Qatari)
Clinical Significance
Reported in ClinVar
Gene : Consequence
POM121 : Missense Variant
NSUN5P2 : Non Coding Transcript Variant
Publications
1 citation
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 64438 T=0.45413 C=0.54587 0.213911 0.305658 0.480431 17
European Sub 46576 T=0.47123 C=0.52877 0.227929 0.285469 0.486603 8
African Sub 8330 T=0.3483 C=0.6517 0.133493 0.436975 0.429532 7
African Others Sub 306 T=0.278 C=0.722 0.104575 0.54902 0.346405 2
African American Sub 8024 T=0.3509 C=0.6491 0.134596 0.432702 0.432702 6
Asian Sub 168 T=0.589 C=0.411 0.297619 0.119048 0.583333 2
East Asian Sub 112 T=0.580 C=0.420 0.285714 0.125 0.589286 2
Other Asian Sub 56 T=0.61 C=0.39 0.321429 0.107143 0.571429 1
Latin American 1 Sub 496 T=0.365 C=0.635 0.137097 0.407258 0.455645 0
Latin American 2 Sub 628 T=0.513 C=0.487 0.254777 0.229299 0.515924 0
South Asian Sub 98 T=0.31 C=0.69 0.102041 0.489796 0.408163 0
Other Sub 8142 T=0.4645 C=0.5355 0.217146 0.288136 0.494719 0


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 T=0.429582 C=0.570418
gnomAD - Exomes Global Study-wide 248030 T=0.462097 C=0.537903
gnomAD - Exomes European Sub 133270 T=0.469941 C=0.530059
gnomAD - Exomes Asian Sub 48614 T=0.46215 C=0.53785
gnomAD - Exomes American Sub 34188 T=0.48976 C=0.51024
gnomAD - Exomes African Sub 15900 T=0.34208 C=0.65792
gnomAD - Exomes Ashkenazi Jewish Sub 10004 T=0.45432 C=0.54568
gnomAD - Exomes Other Sub 6054 T=0.4609 C=0.5391
gnomAD - Genomes Global Study-wide 139322 T=0.430133 C=0.569867
gnomAD - Genomes European Sub 75772 T=0.46603 C=0.53397
gnomAD - Genomes African Sub 41368 T=0.34577 C=0.65423
gnomAD - Genomes American Sub 13614 T=0.45123 C=0.54877
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.4684 C=0.5316
gnomAD - Genomes East Asian Sub 3124 T=0.5458 C=0.4542
gnomAD - Genomes Other Sub 2126 T=0.4276 C=0.5724
ExAC Global Study-wide 120984 T=0.459772 C=0.540228
ExAC Europe Sub 73136 T=0.47291 C=0.52709
ExAC Asian Sub 25098 T=0.45330 C=0.54670
ExAC American Sub 11526 T=0.49297 C=0.50703
ExAC African Sub 10322 T=0.34596 C=0.65404
ExAC Other Sub 902 T=0.452 C=0.548
Allele Frequency Aggregator Total Global 48238 T=0.46094 C=0.53906
Allele Frequency Aggregator European Sub 36602 T=0.47027 C=0.52973
Allele Frequency Aggregator Other Sub 6726 T=0.4685 C=0.5315
Allele Frequency Aggregator African Sub 3520 T=0.3520 C=0.6480
Allele Frequency Aggregator Latin American 2 Sub 628 T=0.513 C=0.487
Allele Frequency Aggregator Latin American 1 Sub 496 T=0.365 C=0.635
Allele Frequency Aggregator Asian Sub 168 T=0.589 C=0.411
Allele Frequency Aggregator South Asian Sub 98 T=0.31 C=0.69
14KJPN JAPANESE Study-wide 28254 T=0.53012 C=0.46988
8.3KJPN JAPANESE Study-wide 16756 T=0.52775 C=0.47225
GO Exome Sequencing Project Global Study-wide 12988 T=0.48245 C=0.51755
GO Exome Sequencing Project European American Sub 8592 T=0.5270 C=0.4730
GO Exome Sequencing Project African American Sub 4396 T=0.3954 C=0.6046
1000Genomes_30x Global Study-wide 6404 T=0.4193 C=0.5807
1000Genomes_30x African Sub 1786 T=0.3057 C=0.6943
1000Genomes_30x Europe Sub 1266 T=0.4597 C=0.5403
1000Genomes_30x South Asian Sub 1202 T=0.4135 C=0.5865
1000Genomes_30x East Asian Sub 1170 T=0.5282 C=0.4718
1000Genomes_30x American Sub 980 T=0.451 C=0.549
1000Genomes Global Study-wide 5008 T=0.4269 C=0.5731
1000Genomes African Sub 1322 T=0.3177 C=0.6823
1000Genomes East Asian Sub 1008 T=0.5337 C=0.4663
1000Genomes Europe Sub 1006 T=0.4592 C=0.5408
1000Genomes South Asian Sub 978 T=0.408 C=0.592
1000Genomes American Sub 694 T=0.460 C=0.540
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5232 A=0.0000, C=0.4768
Korean Genome Project KOREAN Study-wide 1832 T=0.5409 C=0.4591
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.514 C=0.486
Northern Sweden ACPOP Study-wide 600 T=0.482 C=0.518
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.978 C=0.022
SGDP_PRJ Global Study-wide 422 T=0.332 C=0.668
Qatari Global Study-wide 216 T=0.519 C=0.481
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.72948424T>A
GRCh38.p14 chr 7 NC_000007.14:g.72948424T>C
GRCh37.p13 chr 7 fix patch HG1257_PATCH NW_003871064.1:g.477660T>A
GRCh37.p13 chr 7 fix patch HG1257_PATCH NW_003871064.1:g.477660T>C
GRCh37.p13 chr 7 NC_000007.13:g.72418963T>A
GRCh37.p13 chr 7 NC_000007.13:g.72418963T>C
Gene: POM121, POM121 transmembrane nucleoporin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
POM121 transcript variant 3 NM_001367610.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 5 NM_001387685.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 6 NM_001387686.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 7 NM_001387687.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 8 NM_001387688.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 9 NM_001387689.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 10 NM_001387691.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 11 NM_001387692.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 12 NM_001387693.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 13 NM_001387694.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 14 NM_001387695.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 15 NM_001387696.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 16 NM_001387697.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 17 NM_001387698.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 18 NM_001387699.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 19 NM_001387700.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 20 NM_001387701.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 21 NM_001387702.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 22 NM_001387703.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 23 NM_001387704.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 24 NM_001387705.1:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 2 NM_172020.5:c. N/A Genic Downstream Transcript Variant
POM121 transcript variant 1 NM_001257190.3:c.2954T>A L [CTT] > H [CAT] Coding Sequence Variant
nuclear envelope pore membrane protein POM 121 isoform 1 NP_001244119.1:p.Leu985His L (Leu) > H (His) Missense Variant
POM121 transcript variant 1 NM_001257190.3:c.2954T>C L [CTT] > P [CCT] Coding Sequence Variant
nuclear envelope pore membrane protein POM 121 isoform 1 NP_001244119.1:p.Leu985Pro L (Leu) > P (Pro) Missense Variant
POM121 transcript variant X1 XM_047421094.1:c. N/A Genic Downstream Transcript Variant
Gene: NSUN5P2, NSUN5 pseudogene 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NSUN5P2 transcript NR_033323.3:n.1636A>T N/A Non Coding Transcript Variant
NSUN5P2 transcript NR_033323.3:n.1636A>G N/A Non Coding 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.

Allele: C (allele ID: 700196 )
ClinVar Accession Disease Names Clinical Significance
RCV000947018.6 not provided Benign
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= A C
GRCh38.p14 chr 7 NC_000007.14:g.72948424= NC_000007.14:g.72948424T>A NC_000007.14:g.72948424T>C
GRCh37.p13 chr 7 fix patch HG1257_PATCH NW_003871064.1:g.477660= NW_003871064.1:g.477660T>A NW_003871064.1:g.477660T>C
GRCh37.p13 chr 7 NC_000007.13:g.72418963= NC_000007.13:g.72418963T>A NC_000007.13:g.72418963T>C
POM121 transcript variant 1 NM_001257190.3:c.2954= NM_001257190.3:c.2954T>A NM_001257190.3:c.2954T>C
POM121 transcript variant 1 NM_001257190.2:c.2954= NM_001257190.2:c.2954T>A NM_001257190.2:c.2954T>C
NSUN5P2 transcript NR_033323.3:n.1636= NR_033323.3:n.1636A>T NR_033323.3:n.1636A>G
NSUN5C transcript variant 1 NM_032158.3:c.908= NM_032158.3:c.908A>T NM_032158.3:c.908A>G
NSUN5C transcript variant 1 NM_032158.2:c.908= NM_032158.2:c.908A>T NM_032158.2:c.908A>G
NSUN5C transcript variant 2 NM_148936.2:c.836= NM_148936.2:c.836A>T NM_148936.2:c.836A>G
KIAA0618 transcript NM_014833.1:c.2954C>T NM_014833.1:c.2954C>A NM_014833.1:c.2954=
NSUN5C transcript variant 3 NM_148980.1:c.*310= NM_148980.1:c.*310A>T NM_148980.1:c.*310A>G
NSUN5C transcript variant 4 NM_149379.1:c.*240= NM_149379.1:c.*240A>T NM_149379.1:c.*240A>G
WBSCR20A transcript NM_032158.1:c.908G>A NM_032158.1:c.908G>T NM_032158.1:c.908=
NSUN5C transcript variant 2 NM_148936.1:c.836= NM_148936.1:c.836A>T NM_148936.1:c.836A>G
NSUN5C transcript variant 5 NM_001039487.1:c.908= NM_001039487.1:c.908A>T NM_001039487.1:c.908A>G
nuclear envelope pore membrane protein POM 121 isoform 1 NP_001244119.1:p.Leu985= NP_001244119.1:p.Leu985His NP_001244119.1:p.Leu985Pro
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#.

81 SubSNP, 17 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss8835 Sep 19, 2000 (146)
2 TSC-CSHL ss130379 Oct 10, 2002 (146)
3 SC_JCM ss535891 Jul 16, 2000 (146)
4 LEE ss4401310 May 29, 2002 (106)
5 LEE ss4436282 May 29, 2002 (106)
6 TSC-CSHL ss5277573 Oct 08, 2002 (146)
7 WI_SSAHASNP ss6501587 Feb 20, 2003 (146)
8 BCM_SSAHASNP ss10373670 Jul 11, 2003 (146)
9 WI_SSAHASNP ss11864926 Jul 11, 2003 (146)
10 CGAP-GAI ss16224869 Feb 27, 2004 (146)
11 CGAP-GAI ss16228439 Feb 27, 2004 (146)
12 CGAP-GAI ss16259730 Feb 27, 2004 (146)
13 CSHL-HAPMAP ss19722171 Feb 27, 2004 (146)
14 SEQUENOM ss24779632 Sep 20, 2004 (146)
15 SEQUENOM ss24789555 Sep 20, 2004 (123)
16 SEQUENOM ss24796338 Sep 20, 2004 (146)
17 HUMANGENOME_JCVI ss98300969 Feb 06, 2009 (146)
18 ENSEMBL ss142797152 Dec 01, 2009 (146)
19 SEATTLESEQ ss159714879 Dec 01, 2009 (146)
20 1000GENOMES ss223140247 Jul 14, 2010 (146)
21 1000GENOMES ss234029468 Jul 15, 2010 (146)
22 1000GENOMES ss240973508 Jul 15, 2010 (146)
23 GMI ss279387398 May 04, 2012 (146)
24 NHLBI-ESP ss342236558 May 09, 2011 (146)
25 CLINSEQ_SNP ss491907437 May 04, 2012 (146)
26 SSMP ss654466936 Apr 25, 2013 (146)
27 EVA-GONL ss984407869 Aug 21, 2014 (146)
28 1000GENOMES ss1325634195 Aug 21, 2014 (146)
29 DDI ss1431170862 Apr 09, 2015 (146)
30 EVA_EXAC ss1688762365 Apr 09, 2015 (146)
31 EVA_MGP ss1711167828 Apr 09, 2015 (146)
32 HAMMER_LAB ss1805058019 Sep 11, 2015 (146)
33 WEILL_CORNELL_DGM ss1927665801 Feb 17, 2016 (147)
34 SYSTEMSBIOZJU ss2626749458 Oct 12, 2018 (152)
35 GRF ss2708430569 Oct 12, 2018 (152)
36 GNOMAD ss2736474961 Oct 12, 2018 (152)
37 GNOMAD ss2747833933 Oct 12, 2018 (152)
38 GNOMAD ss2854659114 Oct 12, 2018 (152)
39 SWEGEN ss3001408219 Oct 12, 2018 (152)
40 EVA_SAMSUNG_MC ss3023063017 Oct 12, 2018 (152)
41 CSHL ss3347671277 Oct 12, 2018 (152)
42 OMUKHERJEE_ADBS ss3646356918 Oct 12, 2018 (152)
43 URBANLAB ss3648671462 Oct 12, 2018 (152)
44 ACPOP ss3734748851 Jul 13, 2019 (153)
45 EVA ss3766717175 Jul 13, 2019 (153)
46 PACBIO ss3785857536 Jul 13, 2019 (153)
47 PACBIO ss3791154013 Jul 13, 2019 (153)
48 PACBIO ss3796033894 Jul 13, 2019 (153)
49 KHV_HUMAN_GENOMES ss3809884983 Jul 13, 2019 (153)
50 EVA ss3824280248 Apr 26, 2020 (154)
51 EVA ss3825524219 Apr 26, 2020 (154)
52 EVA ss3825540053 Apr 26, 2020 (154)
53 EVA ss3830638762 Apr 26, 2020 (154)
54 EVA ss3838814465 Apr 26, 2020 (154)
55 EVA ss3844268964 Apr 26, 2020 (154)
56 SGDP_PRJ ss3867588944 Apr 26, 2020 (154)
57 KRGDB ss3914824264 Apr 26, 2020 (154)
58 KOGIC ss3961827342 Apr 26, 2020 (154)
59 FSA-LAB ss3984369120 Apr 26, 2021 (155)
60 FSA-LAB ss3984369121 Apr 26, 2021 (155)
61 EVA ss3986384494 Apr 26, 2021 (155)
62 GNOMAD ss4165901120 Apr 26, 2021 (155)
63 TOPMED ss4750252383 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5183809519 Apr 26, 2021 (155)
65 EVA ss5237033849 Apr 26, 2021 (155)
66 EVA ss5237196472 Apr 26, 2021 (155)
67 1000G_HIGH_COVERAGE ss5273392474 Oct 15, 2022 (156)
68 EVA ss5374360443 Oct 15, 2022 (156)
69 1000G_HIGH_COVERAGE ss5561831808 Oct 15, 2022 (156)
70 EVA ss5624167423 Oct 15, 2022 (156)
71 SANFORD_IMAGENETICS ss5643227869 Oct 15, 2022 (156)
72 TOMMO_GENOMICS ss5724259180 Oct 15, 2022 (156)
73 EVA ss5799431834 Oct 15, 2022 (156)
74 EVA ss5800139541 Oct 15, 2022 (156)
75 YY_MCH ss5808766755 Oct 15, 2022 (156)
76 EVA ss5823014693 Oct 15, 2022 (156)
77 EVA ss5848683792 Oct 15, 2022 (156)
78 EVA ss5859396470 Oct 15, 2022 (156)
79 EVA ss5936535286 Oct 15, 2022 (156)
80 EVA ss5972413245 Oct 15, 2022 (156)
81 EVA ss5980442541 Oct 15, 2022 (156)
82 1000Genomes NC_000007.13 - 72418963 Oct 12, 2018 (152)
83 1000Genomes_30x NC_000007.14 - 72948424 Oct 15, 2022 (156)
84 ExAC NC_000007.13 - 72418963 Oct 12, 2018 (152)
85 gnomAD - Genomes NC_000007.14 - 72948424 Apr 26, 2021 (155)
86 gnomAD - Exomes NC_000007.13 - 72418963 Jul 13, 2019 (153)
87 GO Exome Sequencing Project NC_000007.13 - 72418963 Oct 12, 2018 (152)
88 Genome of the Netherlands Release 5 NC_000007.13 - 72418963 Apr 26, 2020 (154)
89 KOREAN population from KRGDB NC_000007.13 - 72418963 Apr 26, 2020 (154)
90 Korean Genome Project NC_000007.14 - 72948424 Apr 26, 2020 (154)
91 Medical Genome Project healthy controls from Spanish population NC_000007.13 - 72418963 Apr 26, 2020 (154)
92 Northern Sweden NC_000007.13 - 72418963 Jul 13, 2019 (153)
93 Qatari NC_000007.13 - 72418963 Apr 26, 2020 (154)
94 SGDP_PRJ NC_000007.13 - 72418963 Apr 26, 2020 (154)
95 8.3KJPN NC_000007.13 - 72418963 Apr 26, 2021 (155)
96 14KJPN NC_000007.14 - 72948424 Oct 15, 2022 (156)
97 TopMed NC_000007.14 - 72948424 Apr 26, 2021 (155)
98 ALFA NC_000007.14 - 72948424 Apr 26, 2021 (155)
99 ClinVar RCV000947018.6 Oct 15, 2022 (156)
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)
rs7056 Sep 11, 2015 (146)
rs3175294 Jul 03, 2002 (106)
rs3890943 Feb 20, 2003 (111)
rs6423294 Aug 27, 2003 (117)
rs11266751 Sep 24, 2004 (123)
rs17145833 Dec 02, 2004 (124)
rs17339561 Mar 10, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
22001658, ss3914824264 NC_000007.13:72418962:T:A NC_000007.14:72948423:T:A (self)
ss279387398, ss491907437 NC_000007.12:72056898:T:C NC_000007.14:72948423:T:C (self)
37621198, 8829768, 5637631, 738210, 9351937, 22001658, 283588, 8033716, 9707731, 19605924, 41778826, ss223140247, ss234029468, ss240973508, ss342236558, ss654466936, ss984407869, ss1325634195, ss1431170862, ss1688762365, ss1711167828, ss1805058019, ss1927665801, ss2626749458, ss2708430569, ss2736474961, ss2747833933, ss2854659114, ss3001408219, ss3023063017, ss3347671277, ss3646356918, ss3734748851, ss3766717175, ss3785857536, ss3791154013, ss3796033894, ss3824280248, ss3825524219, ss3825540053, ss3830638762, ss3838814465, ss3867588944, ss3914824264, ss3984369120, ss3984369121, ss3986384494, ss5183809519, ss5374360443, ss5624167423, ss5643227869, ss5799431834, ss5800139541, ss5823014693, ss5848683792, ss5936535286, ss5972413245, ss5980442541 NC_000007.13:72418962:T:C NC_000007.14:72948423:T:C (self)
RCV000947018.6, 49357743, 265276755, 18205343, 58096284, 587629942, 8235057739, ss3648671462, ss3809884983, ss3844268964, ss3961827342, ss4165901120, ss4750252383, ss5237033849, ss5237196472, ss5273392474, ss5561831808, ss5724259180, ss5808766755, ss5859396470 NC_000007.14:72948423:T:C NC_000007.14:72948423:T:C (self)
ss10373670, ss11864926, ss19722171 NT_007758.10:10452232:T:C NC_000007.14:72948423:T:C (self)
ss8835, ss130379, ss535891, ss4401310, ss4436282, ss5277573, ss6501587, ss16224869, ss16228439, ss16259730, ss24779632, ss24789555, ss24796338, ss98300969, ss142797152, ss159714879 NT_007933.15:10451805:T:C NC_000007.14:72948423:T:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs1107
PMID Title Author Year Journal
29912490 [The analysis of single nucleotide polymorphisms of the DGCR8 and XPO5 genes, and their association with the incidence of primary open angle glaucoma]. Molasy M et al. 2016 Klinika oczna
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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
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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.post825+45319f0