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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.

rs4810485

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:46119308 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.204269 (54068/264690, TOPMED)
T=0.259677 (55134/212318, ALFA)
T=0.208179 (29175/140144, GnomAD) (+ 19 more)
T=0.18062 (14214/78694, PAGE_STUDY)
T=0.39277 (11099/28258, 14KJPN)
T=0.39463 (6614/16760, 8.3KJPN)
T=0.2314 (1482/6404, 1000G_30x)
T=0.2384 (1194/5008, 1000G)
T=0.2158 (967/4480, Estonian)
T=0.2330 (898/3854, ALSPAC)
T=0.2435 (903/3708, TWINSUK)
T=0.3546 (1039/2930, KOREAN)
T=0.2264 (426/1882, HapMap)
T=0.3346 (613/1832, Korea1K)
T=0.234 (234/998, GoNL)
T=0.215 (129/600, NorthernSweden)
T=0.165 (86/522, SGDP_PRJ)
T=0.259 (56/216, Qatari)
G=0.491 (104/212, Vietnamese)
T=0.16 (8/50, Siberian)
T=0.04 (2/46, Ancient Sardinia)
T=0.25 (10/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CD40 : Intron Variant
Publications
80 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 217476 T=0.258452 A=0.000000, G=0.741548
European Sub 184008 T=0.262836 A=0.000000, G=0.737164
African Sub 5848 T=0.0908 A=0.0000, G=0.9092
African Others Sub 202 T=0.059 A=0.000, G=0.941
African American Sub 5646 T=0.0919 A=0.0000, G=0.9081
Asian Sub 3642 T=0.4001 A=0.0000, G=0.5999
East Asian Sub 2308 T=0.4064 A=0.0000, G=0.5936
Other Asian Sub 1334 T=0.3891 A=0.0000, G=0.6109
Latin American 1 Sub 766 T=0.215 A=0.000, G=0.785
Latin American 2 Sub 7874 T=0.2056 A=0.0000, G=0.7944
South Asian Sub 122 T=0.361 A=0.000, G=0.639
Other Sub 15216 T=0.26466 A=0.00000, G=0.73534


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=0.204269 G=0.795731
Allele Frequency Aggregator Total Global 212318 T=0.259677 A=0.000000, G=0.740323
Allele Frequency Aggregator European Sub 180810 T=0.262978 A=0.000000, G=0.737022
Allele Frequency Aggregator Other Sub 14412 T=0.26783 A=0.00000, G=0.73217
Allele Frequency Aggregator Latin American 2 Sub 7874 T=0.2056 A=0.0000, G=0.7944
Allele Frequency Aggregator African Sub 4692 T=0.0938 A=0.0000, G=0.9062
Allele Frequency Aggregator Asian Sub 3642 T=0.4001 A=0.0000, G=0.5999
Allele Frequency Aggregator Latin American 1 Sub 766 T=0.215 A=0.000, G=0.785
Allele Frequency Aggregator South Asian Sub 122 T=0.361 A=0.000, G=0.639
gnomAD - Genomes Global Study-wide 140144 T=0.208179 G=0.791821
gnomAD - Genomes European Sub 75868 T=0.25940 G=0.74060
gnomAD - Genomes African Sub 42016 T=0.08344 G=0.91656
gnomAD - Genomes American Sub 13658 T=0.23159 G=0.76841
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.2708 G=0.7292
gnomAD - Genomes East Asian Sub 3124 T=0.4504 G=0.5496
gnomAD - Genomes Other Sub 2154 T=0.2409 G=0.7591
The PAGE Study Global Study-wide 78694 T=0.18062 G=0.81938
The PAGE Study AfricanAmerican Sub 32514 T=0.08824 G=0.91176
The PAGE Study Mexican Sub 10810 T=0.20842 G=0.79158
The PAGE Study Asian Sub 8316 T=0.4007 G=0.5993
The PAGE Study PuertoRican Sub 7918 T=0.2220 G=0.7780
The PAGE Study NativeHawaiian Sub 4532 T=0.2418 G=0.7582
The PAGE Study Cuban Sub 4230 T=0.2331 G=0.7669
The PAGE Study Dominican Sub 3828 T=0.1682 G=0.8318
The PAGE Study CentralAmerican Sub 2450 T=0.1853 G=0.8147
The PAGE Study SouthAmerican Sub 1982 T=0.1942 G=0.8058
The PAGE Study NativeAmerican Sub 1260 T=0.1770 G=0.8230
The PAGE Study SouthAsian Sub 854 T=0.251 G=0.749
14KJPN JAPANESE Study-wide 28258 T=0.39277 G=0.60723
8.3KJPN JAPANESE Study-wide 16760 T=0.39463 G=0.60537
1000Genomes_30x Global Study-wide 6404 T=0.2314 G=0.7686
1000Genomes_30x African Sub 1786 T=0.0482 G=0.9518
1000Genomes_30x Europe Sub 1266 T=0.2654 G=0.7346
1000Genomes_30x South Asian Sub 1202 T=0.2795 G=0.7205
1000Genomes_30x East Asian Sub 1170 T=0.4419 G=0.5581
1000Genomes_30x American Sub 980 T=0.211 G=0.789
1000Genomes Global Study-wide 5008 T=0.2384 G=0.7616
1000Genomes African Sub 1322 T=0.0537 G=0.9463
1000Genomes East Asian Sub 1008 T=0.4405 G=0.5595
1000Genomes Europe Sub 1006 T=0.2594 G=0.7406
1000Genomes South Asian Sub 978 T=0.275 G=0.725
1000Genomes American Sub 694 T=0.215 G=0.785
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.2158 G=0.7842
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.2330 G=0.7670
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.2435 G=0.7565
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.3546 A=0.0000, G=0.6454
HapMap Global Study-wide 1882 T=0.2264 G=0.7736
HapMap American Sub 762 T=0.256 G=0.744
HapMap African Sub 690 T=0.090 G=0.910
HapMap Asian Sub 254 T=0.445 G=0.555
HapMap Europe Sub 176 T=0.318 G=0.682
Korean Genome Project KOREAN Study-wide 1832 T=0.3346 G=0.6654
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.234 G=0.766
Northern Sweden ACPOP Study-wide 600 T=0.215 G=0.785
SGDP_PRJ Global Study-wide 522 T=0.165 G=0.835
Qatari Global Study-wide 216 T=0.259 G=0.741
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.509 G=0.491
Siberian Global Study-wide 50 T=0.16 G=0.84
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 46 T=0.04 G=0.96
The Danish reference pan genome Danish Study-wide 40 T=0.25 G=0.75
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 20 NC_000020.11:g.46119308T>A
GRCh38.p14 chr 20 NC_000020.11:g.46119308T>G
GRCh37.p13 chr 20 NC_000020.10:g.44747947T>A
GRCh37.p13 chr 20 NC_000020.10:g.44747947T>G
CD40 RefSeqGene (LRG_40) NG_007279.1:g.6042T>A
CD40 RefSeqGene (LRG_40) NG_007279.1:g.6042T>G
Gene: CD40, CD40 molecule (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CD40 transcript variant 1 NM_001250.6:c.51+914T>A N/A Intron Variant
CD40 transcript variant 3 NM_001302753.2:c.51+914T>A N/A Intron Variant
CD40 transcript variant 5 NM_001322421.2:c.51+914T>A N/A Intron Variant
CD40 transcript variant 6 NM_001322422.2:c.51+914T>A N/A Intron Variant
CD40 transcript variant 8 NM_001362758.2:c.51+914T>A N/A Intron Variant
CD40 transcript variant 2 NM_152854.4:c.51+914T>A N/A Intron Variant
CD40 transcript variant 4 NR_126502.2:n. N/A Intron Variant
CD40 transcript variant 7 NR_136327.2:n. N/A Intron Variant
CD40 transcript variant X3 XM_005260619.4:c.51+914T>A N/A Intron Variant
CD40 transcript variant X5 XM_011529109.3:c.51+914T>A N/A Intron Variant
CD40 transcript variant X1 XM_017028135.2:c.51+914T>A N/A Intron Variant
CD40 transcript variant X2 XM_017028136.2:c.51+914T>A N/A Intron Variant
CD40 transcript variant X4 XM_047440601.1:c. N/A Genic 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 T= A G
GRCh38.p14 chr 20 NC_000020.11:g.46119308= NC_000020.11:g.46119308T>A NC_000020.11:g.46119308T>G
GRCh37.p13 chr 20 NC_000020.10:g.44747947= NC_000020.10:g.44747947T>A NC_000020.10:g.44747947T>G
CD40 RefSeqGene (LRG_40) NG_007279.1:g.6042= NG_007279.1:g.6042T>A NG_007279.1:g.6042T>G
CD40 transcript variant 1 NM_001250.4:c.51+914= NM_001250.4:c.51+914T>A NM_001250.4:c.51+914T>G
CD40 transcript variant 1 NM_001250.6:c.51+914= NM_001250.6:c.51+914T>A NM_001250.6:c.51+914T>G
CD40 transcript variant 3 NM_001302753.2:c.51+914= NM_001302753.2:c.51+914T>A NM_001302753.2:c.51+914T>G
CD40 transcript variant 5 NM_001322421.2:c.51+914= NM_001322421.2:c.51+914T>A NM_001322421.2:c.51+914T>G
CD40 transcript variant 6 NM_001322422.2:c.51+914= NM_001322422.2:c.51+914T>A NM_001322422.2:c.51+914T>G
CD40 transcript variant 8 NM_001362758.2:c.51+914= NM_001362758.2:c.51+914T>A NM_001362758.2:c.51+914T>G
CD40 transcript variant 2 NM_152854.2:c.51+914= NM_152854.2:c.51+914T>A NM_152854.2:c.51+914T>G
CD40 transcript variant 2 NM_152854.4:c.51+914= NM_152854.4:c.51+914T>A NM_152854.4:c.51+914T>G
CD40 transcript variant X1 XM_005260617.1:c.51+914= XM_005260617.1:c.51+914T>A XM_005260617.1:c.51+914T>G
CD40 transcript variant X2 XM_005260618.1:c.51+914= XM_005260618.1:c.51+914T>A XM_005260618.1:c.51+914T>G
CD40 transcript variant X3 XM_005260619.1:c.51+914= XM_005260619.1:c.51+914T>A XM_005260619.1:c.51+914T>G
CD40 transcript variant X3 XM_005260619.4:c.51+914= XM_005260619.4:c.51+914T>A XM_005260619.4:c.51+914T>G
CD40 transcript variant X4 XM_005260620.1:c.51+914= XM_005260620.1:c.51+914T>A XM_005260620.1:c.51+914T>G
CD40 transcript variant X5 XM_011529109.3:c.51+914= XM_011529109.3:c.51+914T>A XM_011529109.3:c.51+914T>G
CD40 transcript variant X1 XM_017028135.2:c.51+914= XM_017028135.2:c.51+914T>A XM_017028135.2:c.51+914T>G
CD40 transcript variant X2 XM_017028136.2:c.51+914= XM_017028136.2:c.51+914T>A XM_017028136.2:c.51+914T>G
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#.

162 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6639940 Feb 20, 2003 (111)
2 SC_SNP ss8338770 Apr 21, 2003 (114)
3 EGP_SNPS ss16340714 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss16887953 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss17691020 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19472072 Feb 27, 2004 (120)
7 SSAHASNP ss21804057 Apr 05, 2004 (121)
8 PERLEGEN ss24085223 Sep 21, 2004 (123)
9 ABI ss44229012 Mar 15, 2006 (126)
10 ILLUMINA ss65777366 Oct 14, 2006 (127)
11 AFFY ss66200218 Nov 29, 2006 (127)
12 EGP_SNPS ss66857073 Nov 29, 2006 (127)
13 ILLUMINA ss74911717 Dec 07, 2007 (129)
14 AFFY ss76286762 Dec 08, 2007 (130)
15 HGSV ss77118071 Dec 07, 2007 (129)
16 KRIBB_YJKIM ss82130849 Dec 15, 2007 (130)
17 BCMHGSC_JDW ss91709920 Mar 24, 2008 (129)
18 BGI ss103761078 Dec 01, 2009 (131)
19 KRIBB_YJKIM ss104801966 Feb 06, 2009 (130)
20 1000GENOMES ss112027323 Jan 25, 2009 (130)
21 1000GENOMES ss113382644 Jan 25, 2009 (130)
22 ILLUMINA-UK ss117558196 Feb 14, 2009 (130)
23 ENSEMBL ss133052377 Dec 01, 2009 (131)
24 ENSEMBL ss138249509 Dec 01, 2009 (131)
25 ILLUMINA ss160714910 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss168198529 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss169718446 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss172117102 Jul 04, 2010 (132)
29 AFFY ss173130198 Jul 04, 2010 (132)
30 ILLUMINA ss173825119 Jul 04, 2010 (132)
31 BUSHMAN ss203901001 Jul 04, 2010 (132)
32 BCM-HGSC-SUB ss208732735 Jul 04, 2010 (132)
33 1000GENOMES ss228373711 Jul 14, 2010 (132)
34 WTCCC ss230392607 Jul 04, 2010 (132)
35 1000GENOMES ss237846554 Jul 15, 2010 (132)
36 1000GENOMES ss244014526 Jul 15, 2010 (132)
37 ILLUMINA ss244301499 Jul 04, 2010 (132)
38 BL ss255668070 May 09, 2011 (134)
39 GMI ss283395023 May 04, 2012 (137)
40 GMI ss287463508 Apr 25, 2013 (138)
41 PJP ss292660303 May 09, 2011 (134)
42 ILLUMINA ss410936446 Sep 17, 2011 (135)
43 ILLUMINA ss481058205 May 04, 2012 (137)
44 ILLUMINA ss481079880 May 04, 2012 (137)
45 ILLUMINA ss482073822 Sep 08, 2015 (146)
46 ILLUMINA ss485324119 May 04, 2012 (137)
47 EXOME_CHIP ss491561707 May 04, 2012 (137)
48 ILLUMINA ss537277844 Sep 08, 2015 (146)
49 TISHKOFF ss566275475 Apr 25, 2013 (138)
50 SSMP ss662157319 Apr 25, 2013 (138)
51 ILLUMINA ss780675779 Sep 08, 2015 (146)
52 ILLUMINA ss780685375 Sep 08, 2015 (146)
53 ILLUMINA ss783107874 Sep 08, 2015 (146)
54 ILLUMINA ss783358861 Sep 08, 2015 (146)
55 ILLUMINA ss784064941 Sep 08, 2015 (146)
56 ILLUMINA ss832366511 Sep 08, 2015 (146)
57 ILLUMINA ss836172137 Sep 08, 2015 (146)
58 EVA-GONL ss994766209 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1082236554 Aug 21, 2014 (142)
60 1000GENOMES ss1364952523 Aug 21, 2014 (142)
61 DDI ss1429066389 Apr 01, 2015 (144)
62 EVA_GENOME_DK ss1579522710 Apr 01, 2015 (144)
63 EVA_UK10K_ALSPAC ss1638877086 Apr 01, 2015 (144)
64 EVA_UK10K_TWINSUK ss1681871119 Apr 01, 2015 (144)
65 EVA_DECODE ss1698826958 Apr 01, 2015 (144)
66 EVA_SVP ss1713697236 Apr 01, 2015 (144)
67 ILLUMINA ss1752388799 Sep 08, 2015 (146)
68 ILLUMINA ss1752388800 Sep 08, 2015 (146)
69 HAMMER_LAB ss1809520771 Sep 08, 2015 (146)
70 ILLUMINA ss1917947979 Feb 12, 2016 (147)
71 WEILL_CORNELL_DGM ss1938280124 Feb 12, 2016 (147)
72 ILLUMINA ss1946553561 Feb 12, 2016 (147)
73 ILLUMINA ss1946553562 Feb 12, 2016 (147)
74 ILLUMINA ss1959919458 Feb 12, 2016 (147)
75 ILLUMINA ss1959919459 Feb 12, 2016 (147)
76 GENOMED ss1969141596 Jul 19, 2016 (147)
77 JJLAB ss2029920224 Sep 14, 2016 (149)
78 ILLUMINA ss2094919304 Dec 20, 2016 (150)
79 ILLUMINA ss2095115402 Dec 20, 2016 (150)
80 ILLUMINA ss2095115403 Dec 20, 2016 (150)
81 USC_VALOUEV ss2158488175 Dec 20, 2016 (150)
82 HUMAN_LONGEVITY ss2243135346 Dec 20, 2016 (150)
83 SYSTEMSBIOZJU ss2629453529 Nov 08, 2017 (151)
84 ILLUMINA ss2633803421 Nov 08, 2017 (151)
85 ILLUMINA ss2633803422 Nov 08, 2017 (151)
86 ILLUMINA ss2633803423 Nov 08, 2017 (151)
87 GRF ss2704180905 Nov 08, 2017 (151)
88 ILLUMINA ss2710940316 Nov 08, 2017 (151)
89 GNOMAD ss2967938217 Nov 08, 2017 (151)
90 AFFY ss2985216836 Nov 08, 2017 (151)
91 AFFY ss2985835517 Nov 08, 2017 (151)
92 SWEGEN ss3018254433 Nov 08, 2017 (151)
93 ILLUMINA ss3022123826 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3028792785 Nov 08, 2017 (151)
95 CSHL ss3352530165 Nov 08, 2017 (151)
96 ILLUMINA ss3625788692 Oct 12, 2018 (152)
97 ILLUMINA ss3628402047 Oct 12, 2018 (152)
98 ILLUMINA ss3628402048 Oct 12, 2018 (152)
99 ILLUMINA ss3631759661 Oct 12, 2018 (152)
100 ILLUMINA ss3633252456 Oct 12, 2018 (152)
101 ILLUMINA ss3633966653 Oct 12, 2018 (152)
102 ILLUMINA ss3634838113 Oct 12, 2018 (152)
103 ILLUMINA ss3634838114 Oct 12, 2018 (152)
104 ILLUMINA ss3635651705 Oct 12, 2018 (152)
105 ILLUMINA ss3636531759 Oct 12, 2018 (152)
106 ILLUMINA ss3637403794 Oct 12, 2018 (152)
107 ILLUMINA ss3638348607 Oct 12, 2018 (152)
108 ILLUMINA ss3640545411 Oct 12, 2018 (152)
109 ILLUMINA ss3640545412 Oct 12, 2018 (152)
110 ILLUMINA ss3643311178 Oct 12, 2018 (152)
111 ILLUMINA ss3644783957 Oct 12, 2018 (152)
112 ILLUMINA ss3644783958 Oct 12, 2018 (152)
113 URBANLAB ss3651028311 Oct 12, 2018 (152)
114 ILLUMINA ss3652580103 Oct 12, 2018 (152)
115 ILLUMINA ss3652580104 Oct 12, 2018 (152)
116 ILLUMINA ss3653985842 Oct 12, 2018 (152)
117 EGCUT_WGS ss3684941293 Jul 13, 2019 (153)
118 EVA_DECODE ss3707035163 Jul 13, 2019 (153)
119 ILLUMINA ss3725919552 Jul 13, 2019 (153)
120 ACPOP ss3743431086 Jul 13, 2019 (153)
121 ILLUMINA ss3744198239 Jul 13, 2019 (153)
122 ILLUMINA ss3744494533 Jul 13, 2019 (153)
123 ILLUMINA ss3745138009 Jul 13, 2019 (153)
124 ILLUMINA ss3745138010 Jul 13, 2019 (153)
125 EVA ss3758698806 Jul 13, 2019 (153)
126 PAGE_CC ss3772051310 Jul 13, 2019 (153)
127 ILLUMINA ss3772634177 Jul 13, 2019 (153)
128 ILLUMINA ss3772634178 Jul 13, 2019 (153)
129 PACBIO ss3788659037 Jul 13, 2019 (153)
130 PACBIO ss3793548388 Jul 13, 2019 (153)
131 PACBIO ss3798435344 Jul 13, 2019 (153)
132 KHV_HUMAN_GENOMES ss3821858854 Jul 13, 2019 (153)
133 EVA ss3835694099 Apr 27, 2020 (154)
134 EVA ss3841470921 Apr 27, 2020 (154)
135 EVA ss3846983857 Apr 27, 2020 (154)
136 SGDP_PRJ ss3889194946 Apr 27, 2020 (154)
137 KRGDB ss3939493450 Apr 27, 2020 (154)
138 KOGIC ss3982371834 Apr 27, 2020 (154)
139 EVA ss3984750644 Apr 27, 2021 (155)
140 EVA ss3984750645 Apr 27, 2021 (155)
141 EVA ss3985882034 Apr 27, 2021 (155)
142 TOPMED ss5090213119 Apr 27, 2021 (155)
143 TOMMO_GENOMICS ss5229854911 Apr 27, 2021 (155)
144 1000G_HIGH_COVERAGE ss5308957482 Oct 16, 2022 (156)
145 EVA ss5316010585 Oct 16, 2022 (156)
146 EVA ss5437699657 Oct 16, 2022 (156)
147 HUGCELL_USP ss5501220802 Oct 16, 2022 (156)
148 EVA ss5512230904 Oct 16, 2022 (156)
149 EVA ss5512473581 Oct 16, 2022 (156)
150 1000G_HIGH_COVERAGE ss5615495917 Oct 16, 2022 (156)
151 SANFORD_IMAGENETICS ss5624486722 Oct 16, 2022 (156)
152 SANFORD_IMAGENETICS ss5663300892 Oct 16, 2022 (156)
153 TOMMO_GENOMICS ss5789717522 Oct 16, 2022 (156)
154 EVA ss5800023082 Oct 16, 2022 (156)
155 YY_MCH ss5818082563 Oct 16, 2022 (156)
156 EVA ss5845755108 Oct 16, 2022 (156)
157 EVA ss5847506563 Oct 16, 2022 (156)
158 EVA ss5847922613 Oct 16, 2022 (156)
159 EVA ss5853158990 Oct 16, 2022 (156)
160 EVA ss5923611776 Oct 16, 2022 (156)
161 EVA ss5958223424 Oct 16, 2022 (156)
162 EVA ss5979617659 Oct 16, 2022 (156)
163 1000Genomes NC_000020.10 - 44747947 Oct 12, 2018 (152)
164 1000Genomes_30x NC_000020.11 - 46119308 Oct 16, 2022 (156)
165 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 44747947 Oct 12, 2018 (152)
166 Genetic variation in the Estonian population NC_000020.10 - 44747947 Oct 12, 2018 (152)
167 The Danish reference pan genome NC_000020.10 - 44747947 Apr 27, 2020 (154)
168 gnomAD - Genomes NC_000020.11 - 46119308 Apr 27, 2021 (155)
169 Genome of the Netherlands Release 5 NC_000020.10 - 44747947 Apr 27, 2020 (154)
170 HapMap NC_000020.11 - 46119308 Apr 27, 2020 (154)
171 KOREAN population from KRGDB NC_000020.10 - 44747947 Apr 27, 2020 (154)
172 Korean Genome Project NC_000020.11 - 46119308 Apr 27, 2020 (154)
173 Northern Sweden NC_000020.10 - 44747947 Jul 13, 2019 (153)
174 The PAGE Study NC_000020.11 - 46119308 Jul 13, 2019 (153)
175 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000020.10 - 44747947 Apr 27, 2021 (155)
176 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 300216 (NC_000020.10:44747946:T:G 525/790)
Row 300217 (NC_000020.10:44747946:T:G 525/790)

- Apr 27, 2021 (155)
177 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 300216 (NC_000020.10:44747946:T:G 525/790)
Row 300217 (NC_000020.10:44747946:T:G 525/790)

- Apr 27, 2021 (155)
178 Qatari NC_000020.10 - 44747947 Apr 27, 2020 (154)
179 SGDP_PRJ NC_000020.10 - 44747947 Apr 27, 2020 (154)
180 Siberian NC_000020.10 - 44747947 Apr 27, 2020 (154)
181 8.3KJPN NC_000020.10 - 44747947 Apr 27, 2021 (155)
182 14KJPN NC_000020.11 - 46119308 Oct 16, 2022 (156)
183 TopMed NC_000020.11 - 46119308 Apr 27, 2021 (155)
184 UK 10K study - Twins NC_000020.10 - 44747947 Oct 12, 2018 (152)
185 A Vietnamese Genetic Variation Database NC_000020.10 - 44747947 Jul 13, 2019 (153)
186 ALFA NC_000020.11 - 46119308 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)
rs17841920 Oct 07, 2004 (123)
rs56530668 May 26, 2008 (130)
rs60204642 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
46670844, ss3939493450 NC_000020.10:44747946:T:A NC_000020.11:46119307:T:A (self)
3699199675, ss2243135346 NC_000020.11:46119307:T:A NC_000020.11:46119307:T:A (self)
ss66200218, ss76286762, ss77118071, ss91709920, ss112027323, ss113382644, ss117558196, ss168198529, ss169718446, ss172117102, ss173130198, ss203901001, ss208732735, ss255668070, ss283395023, ss287463508, ss292660303, ss481058205, ss1698826958, ss1713697236, ss2094919304, ss3643311178 NC_000020.9:44181353:T:G NC_000020.11:46119307:T:G (self)
78422016, 43414040, 30679541, 5687649, 19337888, 46670844, 16715951, 1107961, 20322046, 41211926, 11004529, 87824218, 43414040, 9577398, ss228373711, ss237846554, ss244014526, ss481079880, ss482073822, ss485324119, ss491561707, ss537277844, ss566275475, ss662157319, ss780675779, ss780685375, ss783107874, ss783358861, ss784064941, ss832366511, ss836172137, ss994766209, ss1082236554, ss1364952523, ss1429066389, ss1579522710, ss1638877086, ss1681871119, ss1752388799, ss1752388800, ss1809520771, ss1917947979, ss1938280124, ss1946553561, ss1946553562, ss1959919458, ss1959919459, ss1969141596, ss2029920224, ss2095115402, ss2095115403, ss2158488175, ss2629453529, ss2633803421, ss2633803422, ss2633803423, ss2704180905, ss2710940316, ss2967938217, ss2985216836, ss2985835517, ss3018254433, ss3022123826, ss3352530165, ss3625788692, ss3628402047, ss3628402048, ss3631759661, ss3633252456, ss3633966653, ss3634838113, ss3634838114, ss3635651705, ss3636531759, ss3637403794, ss3638348607, ss3640545411, ss3640545412, ss3644783957, ss3644783958, ss3652580103, ss3652580104, ss3653985842, ss3684941293, ss3743431086, ss3744198239, ss3744494533, ss3745138009, ss3745138010, ss3758698806, ss3772634177, ss3772634178, ss3788659037, ss3793548388, ss3798435344, ss3835694099, ss3841470921, ss3889194946, ss3939493450, ss3984750644, ss3984750645, ss3985882034, ss5229854911, ss5316010585, ss5437699657, ss5512230904, ss5512473581, ss5624486722, ss5663300892, ss5800023082, ss5845755108, ss5847506563, ss5847922613, ss5958223424, ss5979617659 NC_000020.10:44747946:T:G NC_000020.11:46119307:T:G (self)
103021852, 553177105, 2132424, 38749835, 1272779, 123554626, 365322064, 3699199675, ss2243135346, ss3028792785, ss3651028311, ss3707035163, ss3725919552, ss3772051310, ss3821858854, ss3846983857, ss3982371834, ss5090213119, ss5308957482, ss5501220802, ss5615495917, ss5789717522, ss5818082563, ss5853158990, ss5923611776 NC_000020.11:46119307:T:G NC_000020.11:46119307:T:G (self)
ss16887953, ss17691020, ss19472072, ss21804057 NT_011362.8:9800854:T:G NC_000020.11:46119307:T:G (self)
ss230392607 NT_011362.9:9800854:T:G NC_000020.11:46119307:T:G (self)
ss6639940, ss8338770, ss16340714, ss24085223, ss44229012, ss65777366, ss66857073, ss74911717, ss82130849, ss103761078, ss104801966, ss133052377, ss138249509, ss160714910, ss173825119, ss244301499, ss410936446 NT_011362.10:14944038:T:G NC_000020.11:46119307:T:G (self)
Help

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

80 citations for rs4810485
PMID Title Author Year Journal
18794853 Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Raychaudhuri S et al. 2008 Nature genetics
19159017 STAT2*C related genotypes and allele but not TLR4 and CD40 gene polymorphisms are associated with higher susceptibility for asthma. Hsieh YY et al. 2009 International journal of biological sciences
19180477 Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations. Lee HS et al. 2009 Arthritis and rheumatism
19435719 Association of CD40 with rheumatoid arthritis confirmed in a large UK case-control study. Orozco G et al. 2010 Annals of the rheumatic diseases
19644859 Association of a single-nucleotide polymorphism in CD40 with the rate of joint destruction in rheumatoid arthritis. van der Linden MP et al. 2009 Arthritis and rheumatism
19674979 Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis. Hinks A et al. 2010 Annals of the rheumatic diseases
19898481 Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Raychaudhuri S et al. 2009 Nature genetics
20018027 Conditional analysis of the major histocompatibility complex in rheumatoid arthritis. Taylor KE et al. 2009 BMC proceedings
20075733 Recent advances in the genetics of rheumatoid arthritis. Raychaudhuri S et al. 2010 Current opinion in rheumatology
20219786 The role of rheumatoid arthritis genetic susceptibility markers in the prediction of erosive disease in patients with early inflammatory polyarthritis: results from the Norfolk Arthritis Register. Plant D et al. 2011 Rheumatology (Oxford, England)
20233754 Cumulative association of 22 genetic variants with seropositive rheumatoid arthritis risk. Karlson EW et al. 2010 Annals of the rheumatic diseases
20309874 Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor alpha therapy. Cui J et al. 2010 Arthritis and rheumatism
20426808 AntEpiSeeker: detecting epistatic interactions for case-control studies using a two-stage ant colony optimization algorithm. Wang Y et al. 2010 BMC research notes
20439292 Genetic variants in the prediction of rheumatoid arthritis. van der Helm-van Mil AH et al. 2010 Annals of the rheumatic diseases
20444755 Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment. Tan RJ et al. 2010 Annals of the rheumatic diseases
20453842 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Stahl EA et al. 2010 Nature genetics
20461788 Association of a rheumatoid arthritis susceptibility variant at the CCL21 locus with premature mortality in inflammatory polyarthritis patients. Farragher TM et al. 2010 Arthritis care & research
20498205 Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers. Plant D et al. 2010 Annals of the rheumatic diseases
20510233 Leveraging human genetics to develop future therapeutic strategies in rheumatoid arthritis. Plenge RM et al. 2010 Rheumatic diseases clinics of North America
20805105 Synthetic associations in the context of genome-wide association scan signals. Orozco G et al. 2010 Human molecular genetics
20933377 Recent findings on genetics of systemic autoimmune diseases. Delgado-Vega A et al. 2010 Current opinion in immunology
21120996 Most common single-nucleotide polymorphisms associated with rheumatoid arthritis in persons of European ancestry confer risk of rheumatoid arthritis in African Americans. Hughes LB et al. 2010 Arthritis and rheumatism
21156761 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. Padyukov L et al. 2011 Annals of the rheumatic diseases
21211616 Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records. Kurreeman F et al. 2011 American journal of human genetics
21645569 A CD40 and an NCOA5 gene polymorphism confer susceptibility to psoriasis in a Southern European population: a case-control study. Zervou MI et al. 2011 Human immunology
21765104 Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction. Deshmukh HA et al. 2011 The Journal of rheumatology
21912605 Association of CD40 gene polymorphisms with sporadic breast cancer in Chinese Han women of Northeast China. Shuang C et al. 2011 PloS one
21914625 A common SNP in the CD40 region is associated with systemic lupus erythematosus and correlates with altered CD40 expression: implications for the pathogenesis. Vazgiourakis VM et al. 2011 Annals of the rheumatic diseases
21931699 Genetic risk score predicting risk of rheumatoid arthritis phenotypes and age of symptom onset. Chibnik LB et al. 2011 PloS one
21980439 A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis. Nakaoka H et al. 2011 PloS one
22087016 CD40 gene polymorphisms confer risk of Behcet's disease but not of Vogt-Koyanagi-Harada syndrome in a Han Chinese population. Chen F et al. 2012 Rheumatology (Oxford, England)
22190364 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. Patsopoulos NA et al. 2011 Annals of neurology
22328738 Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort. Bowes J et al. 2012 Annals of the rheumatic diseases
22508400 Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis. Chung SA et al. 2012 Arthritis and rheumatism
22645426 CD40 Gene polymorphisms associated with susceptibility and coronary artery lesions of Kawasaki disease in the Taiwanese population. Kuo HC et al. 2012 TheScientificWorldJournal
22661644 Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients. Viatte S et al. 2012 Annals of the rheumatic diseases
22731751 Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis. Teruel M et al. 2012 Arthritis research & therapy
22753952 Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways. Vaughn SE et al. 2012 Journal of leukocyte biology
23049851 Potential of ayurgenomics approach in complex trait research: leads from a pilot study on rheumatoid arthritis. Juyal RC et al. 2012 PloS one
23121884 Investigation of Caucasian rheumatoid arthritis susceptibility loci in African patients with the same disease. Viatte S et al. 2012 Arthritis research & therapy
23166616 Study of association of CD40-CD154 gene polymorphisms with disease susceptibility and cardiovascular risk in Spanish rheumatoid arthritis patients. García-Bermúdez M et al. 2012 PloS one
23251581 Meta-analysis of 125 rheumatoid arthritis-related single nucleotide polymorphisms studied in the past two decades. Jiang Y et al. 2012 PloS one
23256180 Association of genetic polymorphisms in CD40 with susceptibility to SLE in the Korean population. Joo YB et al. 2013 Rheumatology (Oxford, England)
23326239 A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). Rubicz R et al. 2013 PLoS genetics
23678157 Integrative analyses for functional mechanisms underlying associations for rheumatoid arthritis. Deng FY et al. 2013 The Journal of rheumatology
24068971 Predicting the risk of rheumatoid arthritis and its age of onset through modelling genetic risk variants with smoking. Scott IC et al. 2013 PLoS genetics
24449572 Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. Orozco G et al. 2014 Arthritis & rheumatology (Hoboken, N.J.)
24828072 The SNP rs1883832 in CD40 gene and risk of atherosclerosis in Chinese population: a meta-analysis. Yun Y et al. 2014 PloS one
25034154 Clinical perspectives on lupus genetics: advances and opportunities. James JA et al. 2014 Rheumatic diseases clinics of North America
25305459 Lack of association between CD40 polymorphisms and acute rejection in German liver transplant recipients. Thude H et al. 2014 Human immunology
25373542 Associations of rs4810485 and rs1883832 polymorphisms of CD40 gene with susceptibility and clinical findings of Behçet's disease. İnal EE et al. 2015 Rheumatology international
25908480 Associations between the functional CD40 rs4810485 G/T polymorphism and susceptibility to rheumatoid arthritis and systemic lupus erythematosus: a meta-analysis. Lee YH et al. 2015 Lupus
26474561 The association of CD40 polymorphisms with CD40 serum levels and risk of systemic lupus erythematosus. Chen JM et al. 2015 BMC genetics
26843965 Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis. Saad MN et al. 2016 Journal of advanced research
27014188 Dissecting the Genetic Susceptibility to Graves' Disease in a Cohort of Patients of Italian Origin. Lombardi A et al. 2016 Frontiers in endocrinology
27073425 Candidate gene polymorphisms and risk of psoriasis: A pilot study. Villarreal-Martínez A et al. 2016 Experimental and therapeutic medicine
27578014 Association of CD40 Gene Polymorphisms with Susceptibility to Neuromyelitis Optica Spectrum Disorders. Shi Z et al. 2017 Molecular neurobiology
27722794 Gene-gene interaction between CD40 and CD226 gene on systemic lupus erythematosus in the Chinese Han population. Nie D et al. 2016 Rheumatology international
27875792 Investigation of CD40 gene rs4810485 and rs1883832 mutations in patients with recurrent aphthous stomatitis. Yigit S et al. 2017 Archives of oral biology
28181356 CD40 polymorphism in cervical carcinoma in a subset of Malaysian population. Krishnappa P et al. 2017 The journal of obstetrics and gynaecology research
28320398 Single nucleotide polymorphisms in the CD40 gene associate with the disease susceptibility and severity in knee osteoarthritis in the Chinese Han population: a case-control study. Deng ZH et al. 2017 BMC musculoskeletal disorders
29214033 Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma. Bernatsky S et al. 2017 Lupus science & medicine
29361022 Multiple sclerosis risk variants alter expression of co-stimulatory genes in B cells. Smets I et al. 2018 Brain
30511624 Investigation of association between CD40 current gene variants (rs4810485, rs1883832 and rs3765459) and serum CD154 protein levels in Iranian migraineurs. Ramroodi N et al. 2018 Cellular and molecular biology (Noisy-le-Grand, France)
30878028 Potential Markers of Autoimmune Diseases, Alleles rs115662534(T) and rs548231435(C), Disrupt the Binding of Transcription Factors STAT1 and EBF1 to the Regulatory Elements of Human CD40 Gene. Putlyaeva LV et al. 2018 Biochemistry. Biokhimiia
30924686 Associations of rs1883832 and rs4810485 polymorphisms of CD40 gene with myocardial infarction in the Tunisian population. Soussi M et al. 2019 Biomarkers
31183392 Analysis of Genetic Variation in CD40 and CD40L: Relationship with mRNA Relative Expression and Soluble Proteins in Acute Coronary Syndrome. Martínez-Fernández DE et al. 2019 Journal of immunology research
31217170 Association of Epstein-Barr virus serological reactivation with transitioning to systemic lupus erythematosus in at-risk individuals. Jog NR et al. 2019 Annals of the rheumatic diseases
31570051 Association between CD40 polymorphisms and systemic lupus erythematosus and correlation between soluble CD40 and CD40 ligand levels in the disease: a meta-analysis. Bae SC et al. 2019 Lupus
31615434 CD40 polymorphisms were associated with HCV infection susceptibility among Chinese population. Tian T et al. 2019 BMC infectious diseases
31642196 Association of soluble CD40 levels with -1 C > T CD40 polymorphism and chronic kidney disease in systemic lupus erythematosus. Tapia-Llanos R et al. 2019 Molecular genetics & genomic medicine
32018016 Impact of CD40 gene polymorphisms on the risk of immune thrombocytopenic purpura. AbdelGhafar MT et al. 2020 Gene
32507051 IRAK1 Gene Polymorphism in Rheumatoid Arthritis. Hosseini N et al. 2021 Immunological investigations
32831971 Investigating the GWAS-Implicated Loci for Rheumatoid Arthritis in the Pakistani Population. Aslam MM et al. 2020 Disease markers
32929287 Complex genetic signatures in immune cells underlie autoimmunity and inform therapy. Orrù V et al. 2020 Nature genetics
33374413 Tracking the Genetic Susceptibility Background of B-Cell Non-Hodgkin's Lymphomas from Genome-Wide Association Studies. Hernández-Verdin I et al. 2020 International journal of molecular sciences
33968033 Association of CD40 Gene Polymorphisms With Systemic Lupus Erythematosus and Rheumatoid Arthritis in a Chinese Han Population. Huang Q et al. 2021 Frontiers in immunology
35088123 Genetics of rheumatoid arthritis. Padyukov L et al. 2022 Seminars in immunopathology
35107652 A CD40 variant is associated with systemic bone loss among patients with rheumatoid arthritis. Sghiri R et al. 2022 Clinical rheumatology
35920091 Association of CD40 gene polymorphisms and immune thrombocytopenic purpura in the adult Egyptian population. Ellithy HN et al. 2022 Blood research
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.post761+d5e8e07