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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.

rs2241524

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr19:54587200 (GRCh38.p13) 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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.048744 (12902/264690, TOPMED)
A=0.009968 (1299/130320, ALFA)
A=0.01638 (213/13006, GO-ESP) (+ 14 more)
A=0.0964 (483/5008, 1000G)
A=0.0065 (25/3854, ALSPAC)
A=0.0081 (30/3708, TWINSUK)
A=0.3195 (936/2930, KOREAN)
A=0.006 (6/998, GoNL)
A=0.270 (207/768, PRJEB37584)
A=0.023 (14/600, NorthernSweden)
A=0.022 (12/534, MGP)
A=0.080 (26/326, HapMap)
A=0.030 (9/304, FINRISK)
A=0.005 (1/216, Qatari)
G=0.432 (63/146, SGDP_PRJ)
A=0.00 (0/84, Ancient Sardinia)
A=0.45 (10/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LILRA2 : Splice Acceptor Variant
Publications
3 citations
Genomic View
See rs on genome
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.p13 chr 19 NC_000019.10:g.54587200G>A
GRCh38.p13 chr 19 NC_000019.10:g.54587200G>C
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.561567G>A
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.561567G>C
LILRA2 RefSeqGene NG_034038.1:g.19204G>A
LILRA2 RefSeqGene NG_034038.1:g.19204G>C
GRCh38.p13 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.492084G>A
GRCh38.p13 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.492084G>C
GRCh38.p13 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.493590G>A
GRCh38.p13 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.493590G>C
GRCh38.p13 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.569781G>A
GRCh38.p13 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.569781G>C
GRCh37.p13 chr 19 NC_000019.9:g.55098667G>A
GRCh37.p13 chr 19 NC_000019.9:g.55098667G>C
Gene: LILRA2, leukocyte immunoglobulin like receptor A2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LILRA2 transcript variant 1 NM_001130917.3:c. N/A Splice Acceptor Variant
LILRA2 transcript variant 3 NM_001290270.1:c. N/A Splice Acceptor Variant
LILRA2 transcript variant 4 NM_001290271.2:c. N/A Splice Acceptor Variant
LILRA2 transcript variant 2 NM_006866.4:c. N/A Splice Acceptor Variant
LILRA2 transcript variant X1 XM_006722986.1:c. N/A Splice Acceptor Variant
LILRA2 transcript variant X2 XM_011526385.1:c. N/A Splice Acceptor Variant
LILRA2 transcript variant X3 XM_011526386.1:c. N/A Splice Acceptor Variant
LILRA2 transcript variant X4 XM_011526387.1:c. N/A Splice Acceptor Variant
LILRA2 transcript variant X7 XM_011526389.1:c. N/A Splice Acceptor Variant
LILRA2 transcript variant X6 XM_017026224.1:c. N/A Splice Acceptor Variant
LILRA2 transcript variant X5 XM_011526388.1:c. N/A Genic Downstream Transcript Variant
LILRA2 transcript variant X8 XM_011526390.1:c. N/A Genic Downstream Transcript Variant
LILRA2 transcript variant X9 XM_011526391.1:c. N/A Genic 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 130320 G=0.989779 A=0.009968, C=0.000253
European Sub 110322 G=0.991634 A=0.008221, C=0.000145
African Sub 6574 G=0.9827 A=0.0167, C=0.0006
African Others Sub 206 G=0.990 A=0.010, C=0.000
African American Sub 6368 G=0.9824 A=0.0170, C=0.0006
Asian Sub 122 G=0.828 A=0.172, C=0.000
East Asian Sub 74 G=0.85 A=0.15, C=0.00
Other Asian Sub 48 G=0.79 A=0.21, C=0.00
Latin American 1 Sub 504 G=0.958 A=0.042, C=0.000
Latin American 2 Sub 430 G=0.988 A=0.012, C=0.000
South Asian Sub 76 G=1.00 A=0.00, C=0.00
Other Sub 12292 G=0.97982 A=0.01912, C=0.00106


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 G=0.951256 A=0.048744
GO Exome Sequencing Project Global Study-wide 13006 G=0.98362 A=0.01638
GO Exome Sequencing Project European American Sub 8600 G=0.9923 A=0.0077
GO Exome Sequencing Project African American Sub 4406 G=0.9666 A=0.0334
1000Genomes Global Study-wide 5008 G=0.8918 A=0.0964, C=0.0118
1000Genomes African Sub 1322 G=0.9796 A=0.0204, C=0.0000
1000Genomes East Asian Sub 1008 G=0.7282 A=0.2698, C=0.0020
1000Genomes Europe Sub 1006 G=0.9871 A=0.0109, C=0.0020
1000Genomes South Asian Sub 978 G=0.882 A=0.061, C=0.056
1000Genomes American Sub 694 G=0.837 A=0.163, C=0.000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9935 A=0.0065
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9919 A=0.0081
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6737 A=0.3195, C=0.0068
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.994 A=0.006
CNV burdens in cranial meningiomas Global Study-wide 768 G=0.730 A=0.270
CNV burdens in cranial meningiomas CRM Sub 768 G=0.730 A=0.270
Northern Sweden ACPOP Study-wide 600 G=0.977 A=0.023
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.978 A=0.022
HapMap Global Study-wide 326 G=0.920 A=0.080
HapMap African Sub 120 G=0.975 A=0.025
HapMap American Sub 120 G=1.000 A=0.000
HapMap Asian Sub 86 G=0.73 A=0.27
FINRISK Finnish from FINRISK project Study-wide 304 G=0.970 A=0.030
Qatari Global Study-wide 216 G=0.995 A=0.005
SGDP_PRJ Global Study-wide 146 G=0.432 A=0.486, C=0.082
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 G=1.00 A=0.00
Siberian Global Study-wide 22 G=0.50 A=0.45, C=0.05
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= A C
GRCh38.p13 chr 19 NC_000019.10:g.54587200= NC_000019.10:g.54587200G>A NC_000019.10:g.54587200G>C
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.561567= NW_004166865.1:g.561567G>A NW_004166865.1:g.561567G>C
LILRA2 RefSeqGene NG_034038.1:g.19204= NG_034038.1:g.19204G>A NG_034038.1:g.19204G>C
GRCh38.p13 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.492084= NW_003571060.1:g.492084G>A NW_003571060.1:g.492084G>C
GRCh38.p13 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.493590= NW_003571054.1:g.493590G>A NW_003571054.1:g.493590G>C
GRCh38.p13 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.569781= NT_187693.1:g.569781G>A NT_187693.1:g.569781G>C
GRCh37.p13 chr 19 NC_000019.9:g.55098667= NC_000019.9:g.55098667G>A NC_000019.9:g.55098667G>C
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#.

95 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3197491 Aug 15, 2001 (98)
2 TSC-CSHL ss5157973 Oct 08, 2002 (108)
3 TSC-CSHL ss5336362 Oct 08, 2002 (108)
4 TSC-CSHL ss5363821 Oct 08, 2002 (108)
5 SC_JCM ss6222912 Feb 20, 2003 (111)
6 WI_SSAHASNP ss13612690 Dec 05, 2003 (119)
7 PERLEGEN ss24200466 Sep 20, 2004 (123)
8 ABI ss40979464 Mar 14, 2006 (126)
9 AFFY ss65943792 Dec 01, 2006 (127)
10 BGI ss103446704 Feb 20, 2009 (130)
11 SEATTLESEQ ss159747240 Dec 01, 2009 (131)
12 1000GENOMES ss243914181 Jul 15, 2010 (132)
13 GMI ss283254468 May 04, 2012 (137)
14 NHLBI-ESP ss342509982 May 09, 2011 (134)
15 1000GENOMES ss491167698 May 04, 2012 (137)
16 EXOME_CHIP ss491554165 May 04, 2012 (137)
17 CLINSEQ_SNP ss491775283 May 04, 2012 (137)
18 ILLUMINA ss534951771 Sep 08, 2015 (146)
19 SSMP ss661928105 Apr 25, 2013 (138)
20 ILLUMINA ss780750014 Sep 08, 2015 (146)
21 ILLUMINA ss783428033 Sep 08, 2015 (146)
22 EVA-GONL ss994421694 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1067594013 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1081986670 Aug 21, 2014 (142)
25 1000GENOMES ss1363634523 Aug 21, 2014 (142)
26 1000GENOMES ss1363634524 Aug 21, 2014 (142)
27 EVA_FINRISK ss1584120195 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1638187711 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1681181744 Apr 01, 2015 (144)
30 EVA_EXAC ss1693804590 Apr 01, 2015 (144)
31 EVA_EXAC ss1693804591 Apr 01, 2015 (144)
32 EVA_DECODE ss1698474814 Apr 01, 2015 (144)
33 EVA_DECODE ss1698474815 Apr 01, 2015 (144)
34 EVA_MGP ss1711526563 Apr 01, 2015 (144)
35 ILLUMINA ss1752294786 Sep 08, 2015 (146)
36 HAMMER_LAB ss1809366535 Sep 08, 2015 (146)
37 ILLUMINA ss1917942014 Feb 12, 2016 (147)
38 WEILL_CORNELL_DGM ss1937926947 Feb 12, 2016 (147)
39 ILLUMINA ss1946542129 Feb 12, 2016 (147)
40 ILLUMINA ss1959883073 Feb 12, 2016 (147)
41 GENOMED ss1968665667 Jul 19, 2016 (147)
42 JJLAB ss2029738502 Sep 14, 2016 (149)
43 ILLUMINA ss2094900033 Dec 20, 2016 (150)
44 ILLUMINA ss2095086603 Dec 20, 2016 (150)
45 USC_VALOUEV ss2158290004 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2226592500 Dec 20, 2016 (150)
47 TOPMED ss2392468803 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2629366442 Nov 08, 2017 (151)
49 GRF ss2702904831 Nov 08, 2017 (151)
50 GNOMAD ss2744309638 Nov 08, 2017 (151)
51 GNOMAD ss2750289326 Nov 08, 2017 (151)
52 GNOMAD ss2964223917 Nov 08, 2017 (151)
53 AFFY ss2985153450 Nov 08, 2017 (151)
54 AFFY ss2985779626 Nov 08, 2017 (151)
55 SWEGEN ss3017683157 Nov 08, 2017 (151)
56 SWEGEN ss3017683158 Nov 08, 2017 (151)
57 ILLUMINA ss3021924721 Nov 08, 2017 (151)
58 TOPMED ss3296335125 Nov 08, 2017 (151)
59 TOPMED ss3296335126 Nov 08, 2017 (151)
60 ILLUMINA ss3627962340 Oct 12, 2018 (152)
61 ILLUMINA ss3627962341 Oct 12, 2018 (152)
62 ILLUMINA ss3634744272 Oct 12, 2018 (152)
63 ILLUMINA ss3640451577 Oct 12, 2018 (152)
64 ILLUMINA ss3644730644 Oct 12, 2018 (152)
65 OMUKHERJEE_ADBS ss3646542853 Oct 12, 2018 (152)
66 ILLUMINA ss3652352070 Oct 12, 2018 (152)
67 ILLUMINA ss3652352071 Oct 12, 2018 (152)
68 ILLUMINA ss3653923855 Oct 12, 2018 (152)
69 EGCUT_WGS ss3684406060 Jul 13, 2019 (153)
70 EGCUT_WGS ss3684406061 Jul 13, 2019 (153)
71 EVA_DECODE ss3703011118 Jul 13, 2019 (153)
72 EVA_DECODE ss3703011119 Jul 13, 2019 (153)
73 ILLUMINA ss3725743985 Jul 13, 2019 (153)
74 ACPOP ss3743147236 Jul 13, 2019 (153)
75 ILLUMINA ss3744469327 Jul 13, 2019 (153)
76 ILLUMINA ss3745044264 Jul 13, 2019 (153)
77 EVA ss3756205690 Jul 13, 2019 (153)
78 ILLUMINA ss3772541250 Jul 13, 2019 (153)
79 KHV_HUMAN_GENOMES ss3821457601 Jul 13, 2019 (153)
80 EVA ss3825330043 Apr 27, 2020 (154)
81 SGDP_PRJ ss3888489120 Apr 27, 2020 (154)
82 KRGDB ss3938651149 Apr 27, 2020 (154)
83 FSA-LAB ss3984163738 Apr 27, 2021 (155)
84 EVA ss3984744575 Apr 27, 2021 (155)
85 EVA ss3985859989 Apr 27, 2021 (155)
86 EVA ss3986082381 Apr 27, 2021 (155)
87 EVA ss3986814787 Apr 27, 2021 (155)
88 VINODS ss4033857947 Apr 27, 2021 (155)
89 VINODS ss4033868204 Apr 27, 2021 (155)
90 VINODS ss4033876754 Apr 27, 2021 (155)
91 TOPMED ss5078652226 Apr 27, 2021 (155)
92 TOMMO_GENOMICS ss5228340347 Apr 27, 2021 (155)
93 TOMMO_GENOMICS ss5228340348 Apr 27, 2021 (155)
94 EVA ss5236966089 Apr 27, 2021 (155)
95 EVA ss5236966090 Apr 27, 2021 (155)
96 1000Genomes NC_000019.9 - 55098667 Oct 12, 2018 (152)
97 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 55098667 Oct 12, 2018 (152)
98 Genetic variation in the Estonian population

Submission ignored due to conflicting rows:
Row 30144308 (NC_000019.9:55098666:G:G 4433/4478, NC_000019.9:55098666:G:A 45/4478)
Row 30144309 (NC_000019.9:55098666:G:G 4391/4392, NC_000019.9:55098666:G:C 1/4392)

- Oct 12, 2018 (152)
99 Genetic variation in the Estonian population

Submission ignored due to conflicting rows:
Row 30144308 (NC_000019.9:55098666:G:G 4433/4478, NC_000019.9:55098666:G:A 45/4478)
Row 30144309 (NC_000019.9:55098666:G:G 4391/4392, NC_000019.9:55098666:G:C 1/4392)

- Oct 12, 2018 (152)
100 ExAC

Submission ignored due to conflicting rows:
Row 4324108 (NC_000019.9:55098666:G:G 120240/121228, NC_000019.9:55098666:G:C 988/121228)
Row 4324109 (NC_000019.9:55098666:G:G 114237/121228, NC_000019.9:55098666:G:A 6991/121228)

- Oct 12, 2018 (152)
101 ExAC

Submission ignored due to conflicting rows:
Row 4324108 (NC_000019.9:55098666:G:G 120240/121228, NC_000019.9:55098666:G:C 988/121228)
Row 4324109 (NC_000019.9:55098666:G:G 114237/121228, NC_000019.9:55098666:G:A 6991/121228)

- Oct 12, 2018 (152)
102 FINRISK NC_000019.9 - 55098667 Apr 27, 2020 (154)
103 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543407505 (NC_000019.10:54587199:G:A 4588/140138)
Row 543407506 (NC_000019.10:54587199:G:C 176/140152)

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

Submission ignored due to conflicting rows:
Row 543407505 (NC_000019.10:54587199:G:A 4588/140138)
Row 543407506 (NC_000019.10:54587199:G:C 176/140152)

- Apr 27, 2021 (155)
105 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 13625560 (NC_000019.9:55098666:G:G 231402/247804, NC_000019.9:55098666:G:A 16402/247804)
Row 13625561 (NC_000019.9:55098666:G:G 247339/247804, NC_000019.9:55098666:G:C 465/247804)

- Jul 13, 2019 (153)
106 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 13625560 (NC_000019.9:55098666:G:G 231402/247804, NC_000019.9:55098666:G:A 16402/247804)
Row 13625561 (NC_000019.9:55098666:G:G 247339/247804, NC_000019.9:55098666:G:C 465/247804)

- Jul 13, 2019 (153)
107 GO Exome Sequencing Project NC_000019.9 - 55098667 Oct 12, 2018 (152)
108 Genome of the Netherlands Release 5 NC_000019.9 - 55098667 Apr 27, 2020 (154)
109 HapMap NC_000019.10 - 54587200 Apr 27, 2020 (154)
110 KOREAN population from KRGDB NC_000019.9 - 55098667 Apr 27, 2020 (154)
111 Medical Genome Project healthy controls from Spanish population NC_000019.9 - 55098667 Apr 27, 2020 (154)
112 Northern Sweden NC_000019.9 - 55098667 Jul 13, 2019 (153)
113 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000019.9 - 55098667 Apr 27, 2021 (155)
114 CNV burdens in cranial meningiomas NC_000019.9 - 55098667 Apr 27, 2021 (155)
115 Qatari NC_000019.9 - 55098667 Apr 27, 2020 (154)
116 SGDP_PRJ NC_000019.9 - 55098667 Apr 27, 2020 (154)
117 Siberian NC_000019.9 - 55098667 Apr 27, 2020 (154)
118 8.3KJPN

Submission ignored due to conflicting rows:
Row 86309654 (NC_000019.9:55098666:G:A 5187/16760)
Row 86309655 (NC_000019.9:55098666:G:C 193/16760)

- Apr 27, 2021 (155)
119 8.3KJPN

Submission ignored due to conflicting rows:
Row 86309654 (NC_000019.9:55098666:G:A 5187/16760)
Row 86309655 (NC_000019.9:55098666:G:C 193/16760)

- Apr 27, 2021 (155)
120 TopMed NC_000019.10 - 54587200 Apr 27, 2021 (155)
121 UK 10K study - Twins NC_000019.9 - 55098667 Oct 12, 2018 (152)
122 ALFA NC_000019.10 - 54587200 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)
rs17752383 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss283254468, ss491775283, ss1698474814, ss2094900033 NC_000019.8:59790478:G:A NC_000019.10:54587199:G:A (self)
77059080, 42656460, 116656, 1786975, 19005488, 45828543, 642323, 16432101, 1085916, 294140, 19968869, 40506100, 10806358, 42656460, ss243914181, ss342509982, ss491167698, ss491554165, ss534951771, ss661928105, ss780750014, ss783428033, ss994421694, ss1067594013, ss1081986670, ss1363634523, ss1584120195, ss1638187711, ss1681181744, ss1693804591, ss1711526563, ss1752294786, ss1809366535, ss1917942014, ss1937926947, ss1946542129, ss1959883073, ss1968665667, ss2029738502, ss2095086603, ss2158290004, ss2392468803, ss2629366442, ss2702904831, ss2744309638, ss2750289326, ss2964223917, ss2985153450, ss2985779626, ss3017683157, ss3021924721, ss3627962340, ss3627962341, ss3634744272, ss3640451577, ss3644730644, ss3646542853, ss3652352070, ss3652352071, ss3653923855, ss3684406060, ss3743147236, ss3744469327, ss3745044264, ss3756205690, ss3772541250, ss3825330043, ss3888489120, ss3938651149, ss3984744575, ss3985859989, ss3986082381, ss3986814787, ss5228340347 NC_000019.9:55098666:G:A NC_000019.10:54587199:G:A (self)
1713603, 183512372, 294197890, 6173193541, ss2226592500, ss3296335125, ss3703011118, ss3725743985, ss3821457601, ss5078652226, ss5236966089 NC_000019.10:54587199:G:A NC_000019.10:54587199:G:A (self)
ss13612690 NT_011109.15:27366856:G:A NC_000019.10:54587199:G:A (self)
ss3197491, ss5157973, ss5336362, ss5363821, ss6222912, ss24200466, ss40979464, ss65943792, ss103446704, ss159747240 NT_011109.16:27366884:G:A NC_000019.10:54587199:G:A (self)
ss1698474815 NC_000019.8:59790478:G:C NC_000019.10:54587199:G:C (self)
77059080, 45828543, 40506100, 10806358, ss1363634524, ss1693804590, ss2158290004, ss2744309638, ss2750289326, ss2964223917, ss3017683158, ss3646542853, ss3684406061, ss3888489120, ss3938651149, ss3984163738, ss3986814787, ss5228340348 NC_000019.9:55098666:G:C NC_000019.10:54587199:G:C (self)
6173193541, ss3296335126, ss3703011119, ss5236966090 NC_000019.10:54587199:G:C NC_000019.10:54587199:G:C (self)
ss4033876754 NT_187693.1:569780:G:C NC_000019.10:54587199:G:C
ss4033857947 NW_003571054.1:493589:G:C NC_000019.10:54587199:G:C
ss4033868204 NW_003571060.1:492083:G:C NC_000019.10:54587199:G:C
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

3 citations for rs2241524
PMID Title Author Year Journal
18273033 Association of LILRA2 (ILT1, LIR7) splice site polymorphism with systemic lupus erythematosus and microscopic polyangiitis. Mamegano K et al. 2008 Genes and immunity
20236493 The contribution of genetic variation and infection to the pathogenesis of ANCA-associated systemic vasculitis. Willcocks LC et al. 2010 Arthritis research & therapy
28351852 Leukocyte immunoglobulin-like receptors in human diseases: an overview of their distribution, function, and potential application for immunotherapies. Zhang J et al. 2017 Journal of leukocyte biology
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.post596+ae089ad