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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.

rs4488910

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:86441681 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.152722 (47687/312248, ALFA)
C=0.153036 (40507/264690, TOPMED)
C=0.149499 (20946/140108, GnomAD) (+ 22 more)
C=0.15349 (12079/78694, PAGE_STUDY)
C=0.17885 (5054/28258, 14KJPN)
C=0.17947 (3008/16760, 8.3KJPN)
C=0.1693 (1084/6404, 1000G_30x)
C=0.1693 (848/5008, 1000G)
C=0.1699 (761/4480, Estonian)
C=0.1458 (562/3854, ALSPAC)
C=0.1481 (549/3708, TWINSUK)
C=0.2270 (665/2930, KOREAN)
C=0.1622 (338/2084, HGDP_Stanford)
C=0.2314 (424/1832, Korea1K)
C=0.2042 (232/1136, Daghestan)
C=0.123 (123/998, GoNL)
C=0.235 (185/788, PRJEB37584)
C=0.268 (168/626, Chileans)
C=0.163 (98/600, NorthernSweden)
C=0.120 (26/216, Qatari)
C=0.236 (50/212, Vietnamese)
T=0.449 (71/158, SGDP_PRJ)
C=0.18 (12/68, Ancient Sardinia)
C=0.15 (6/40, GENOME_DK)
T=0.44 (8/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MAPK10 : Intron 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 317284 T=0.847272 C=0.152728
European Sub 274102 T=0.848659 C=0.151341
African Sub 12828 T=0.85594 C=0.14406
African Others Sub 466 T=0.873 C=0.127
African American Sub 12362 T=0.85528 C=0.14472
Asian Sub 3974 T=0.7710 C=0.2290
East Asian Sub 3198 T=0.7717 C=0.2283
Other Asian Sub 776 T=0.768 C=0.232
Latin American 1 Sub 1280 T=0.8500 C=0.1500
Latin American 2 Sub 9358 T=0.8440 C=0.1560
South Asian Sub 5236 T=0.8182 C=0.1818
Other Sub 10506 T=0.84647 C=0.15353


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 312248 T=0.847278 C=0.152722
Allele Frequency Aggregator European Sub 271008 T=0.848676 C=0.151324
Allele Frequency Aggregator African Sub 11686 T=0.85709 C=0.14291
Allele Frequency Aggregator Other Sub 9706 T=0.8462 C=0.1538
Allele Frequency Aggregator Latin American 2 Sub 9358 T=0.8440 C=0.1560
Allele Frequency Aggregator South Asian Sub 5236 T=0.8182 C=0.1818
Allele Frequency Aggregator Asian Sub 3974 T=0.7710 C=0.2290
Allele Frequency Aggregator Latin American 1 Sub 1280 T=0.8500 C=0.1500
TopMed Global Study-wide 264690 T=0.846964 C=0.153036
gnomAD - Genomes Global Study-wide 140108 T=0.850501 C=0.149499
gnomAD - Genomes European Sub 75894 T=0.85409 C=0.14591
gnomAD - Genomes African Sub 41980 T=0.85538 C=0.14462
gnomAD - Genomes American Sub 13638 T=0.84580 C=0.15420
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.8430 C=0.1570
gnomAD - Genomes East Asian Sub 3130 T=0.7412 C=0.2588
gnomAD - Genomes Other Sub 2148 T=0.8291 C=0.1709
The PAGE Study Global Study-wide 78694 T=0.84651 C=0.15349
The PAGE Study AfricanAmerican Sub 32514 T=0.85606 C=0.14394
The PAGE Study Mexican Sub 10810 T=0.86827 C=0.13173
The PAGE Study Asian Sub 8318 T=0.8138 C=0.1862
The PAGE Study PuertoRican Sub 7916 T=0.8391 C=0.1609
The PAGE Study NativeHawaiian Sub 4532 T=0.8184 C=0.1816
The PAGE Study Cuban Sub 4228 T=0.8602 C=0.1398
The PAGE Study Dominican Sub 3828 T=0.8571 C=0.1429
The PAGE Study CentralAmerican Sub 2450 T=0.8176 C=0.1824
The PAGE Study SouthAmerican Sub 1982 T=0.7926 C=0.2074
The PAGE Study NativeAmerican Sub 1260 T=0.8540 C=0.1460
The PAGE Study SouthAsian Sub 856 T=0.826 C=0.174
14KJPN JAPANESE Study-wide 28258 T=0.82115 C=0.17885
8.3KJPN JAPANESE Study-wide 16760 T=0.82053 C=0.17947
1000Genomes_30x Global Study-wide 6404 T=0.8307 C=0.1693
1000Genomes_30x African Sub 1786 T=0.8466 C=0.1534
1000Genomes_30x Europe Sub 1266 T=0.8515 C=0.1485
1000Genomes_30x South Asian Sub 1202 T=0.8270 C=0.1730
1000Genomes_30x East Asian Sub 1170 T=0.7889 C=0.2111
1000Genomes_30x American Sub 980 T=0.830 C=0.170
1000Genomes Global Study-wide 5008 T=0.8307 C=0.1693
1000Genomes African Sub 1322 T=0.8457 C=0.1543
1000Genomes East Asian Sub 1008 T=0.7927 C=0.2073
1000Genomes Europe Sub 1006 T=0.8529 C=0.1471
1000Genomes South Asian Sub 978 T=0.829 C=0.171
1000Genomes American Sub 694 T=0.827 C=0.173
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8301 C=0.1699
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8542 C=0.1458
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8519 C=0.1481
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7730 C=0.2270
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.8378 C=0.1622
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.802 C=0.198
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.833 C=0.167
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.863 C=0.137
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.875 C=0.125
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.798 C=0.202
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.819 C=0.181
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=1.00 C=0.00
Korean Genome Project KOREAN Study-wide 1832 T=0.7686 C=0.2314
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.7958 C=0.2042
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.774 C=0.226
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.854 C=0.146
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.787 C=0.213
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.843 C=0.157
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.80 C=0.20
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.83 C=0.17
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.877 C=0.123
CNV burdens in cranial meningiomas Global Study-wide 788 T=0.765 C=0.235
CNV burdens in cranial meningiomas CRM Sub 788 T=0.765 C=0.235
Chileans Chilean Study-wide 626 T=0.732 C=0.268
Northern Sweden ACPOP Study-wide 600 T=0.837 C=0.163
Qatari Global Study-wide 216 T=0.880 C=0.120
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.764 C=0.236
SGDP_PRJ Global Study-wide 158 T=0.449 C=0.551
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 68 T=0.82 C=0.18
The Danish reference pan genome Danish Study-wide 40 T=0.85 C=0.15
Siberian Global Study-wide 18 T=0.44 C=0.56
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 4 NC_000004.12:g.86441681T>C
GRCh37.p13 chr 4 NC_000004.11:g.87362834T>C
MAPK10 RefSeqGene NG_013325.2:g.16450A>G
Gene: MAPK10, mitogen-activated protein kinase 10 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MAPK10 transcript variant 2 NM_002753.6:c.-122+11349A…

NM_002753.6:c.-122+11349A>G

N/A Intron Variant
MAPK10 transcript variant 5 NM_001318067.1:c. N/A Genic Upstream Transcript Variant
MAPK10 transcript variant 6 NM_001318068.1:c. N/A Genic Upstream Transcript Variant
MAPK10 transcript variant 1 NM_001318069.2:c. N/A Genic Upstream Transcript Variant
MAPK10 transcript variant 7 NM_001351624.2:c. N/A Genic Upstream Transcript Variant
MAPK10 transcript variant 8 NM_001351625.3:c. N/A Genic Upstream Transcript Variant
MAPK10 transcript variant 9 NM_001363657.3:c. N/A Genic Upstream Transcript Variant
MAPK10 transcript variant 3 NM_138980.4:c. N/A Genic Upstream Transcript Variant
MAPK10 transcript variant 1 NM_138982.4:c. N/A Genic Upstream Transcript Variant
MAPK10 transcript variant X1 XM_047415964.1:c.36+15222…

XM_047415964.1:c.36+152229A>G

N/A Intron Variant
MAPK10 transcript variant X2 XM_047415965.1:c.36+15222…

XM_047415965.1:c.36+152229A>G

N/A Intron Variant
MAPK10 transcript variant X3 XM_047415966.1:c.36+15222…

XM_047415966.1:c.36+152229A>G

N/A Intron Variant
MAPK10 transcript variant X4 XM_047415967.1:c.36+15222…

XM_047415967.1:c.36+152229A>G

N/A Intron Variant
MAPK10 transcript variant X5 XM_047415968.1:c.36+15222…

XM_047415968.1:c.36+152229A>G

N/A Intron 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= C
GRCh38.p14 chr 4 NC_000004.12:g.86441681= NC_000004.12:g.86441681T>C
GRCh37.p13 chr 4 NC_000004.11:g.87362834= NC_000004.11:g.87362834T>C
MAPK10 RefSeqGene NG_013325.2:g.16450= NG_013325.2:g.16450A>G
MAPK10 transcript variant 1 NM_002753.3:c.-122+11349= NM_002753.3:c.-122+11349A>G
MAPK10 transcript variant 2 NM_002753.6:c.-122+11349= NM_002753.6:c.-122+11349A>G
MAPK10 transcript variant X1 XM_047415964.1:c.36+152229= XM_047415964.1:c.36+152229A>G
MAPK10 transcript variant X2 XM_047415965.1:c.36+152229= XM_047415965.1:c.36+152229A>G
MAPK10 transcript variant X3 XM_047415966.1:c.36+152229= XM_047415966.1:c.36+152229A>G
MAPK10 transcript variant X4 XM_047415967.1:c.36+152229= XM_047415967.1:c.36+152229A>G
MAPK10 transcript variant X5 XM_047415968.1:c.36+152229= XM_047415968.1:c.36+152229A>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#.

129 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss6039290 Feb 20, 2003 (111)
2 PERLEGEN ss23844034 Sep 20, 2004 (123)
3 ABI ss44526697 Mar 15, 2006 (126)
4 ILLUMINA ss66587099 Nov 30, 2006 (127)
5 ILLUMINA ss67340264 Nov 30, 2006 (127)
6 ILLUMINA ss67736081 Nov 30, 2006 (127)
7 PERLEGEN ss68904074 May 17, 2007 (127)
8 ILLUMINA ss70806646 May 26, 2008 (130)
9 ILLUMINA ss71386248 May 17, 2007 (127)
10 ILLUMINA ss74922410 Dec 07, 2007 (129)
11 AFFY ss76838894 Dec 07, 2007 (129)
12 ILLUMINA ss79183634 Dec 15, 2007 (130)
13 KRIBB_YJKIM ss84278983 Dec 15, 2007 (130)
14 BGI ss104090696 Dec 01, 2009 (131)
15 ILLUMINA ss122319322 Dec 01, 2009 (131)
16 ILLUMINA ss154297203 Dec 01, 2009 (131)
17 ILLUMINA ss159474107 Dec 01, 2009 (131)
18 ILLUMINA ss160682746 Dec 01, 2009 (131)
19 ILLUMINA ss171806488 Jul 04, 2010 (132)
20 ILLUMINA ss173741623 Jul 04, 2010 (132)
21 BUSHMAN ss198812002 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss206317871 Jul 04, 2010 (132)
23 1000GENOMES ss221050570 Jul 14, 2010 (132)
24 1000GENOMES ss232480761 Jul 14, 2010 (132)
25 1000GENOMES ss239755062 Jul 15, 2010 (132)
26 BL ss253310859 May 09, 2011 (134)
27 GMI ss277812040 May 04, 2012 (137)
28 ILLUMINA ss480956276 May 04, 2012 (137)
29 ILLUMINA ss480976094 May 04, 2012 (137)
30 ILLUMINA ss481945279 Sep 08, 2015 (146)
31 ILLUMINA ss485273047 May 04, 2012 (137)
32 ILLUMINA ss537240191 Sep 08, 2015 (146)
33 TISHKOFF ss557663976 Apr 25, 2013 (138)
34 SSMP ss651468590 Apr 25, 2013 (138)
35 ILLUMINA ss778537335 Aug 21, 2014 (142)
36 ILLUMINA ss783082453 Aug 21, 2014 (142)
37 ILLUMINA ss784040046 Aug 21, 2014 (142)
38 ILLUMINA ss825514152 Apr 01, 2015 (144)
39 ILLUMINA ss832340804 Apr 01, 2015 (144)
40 ILLUMINA ss832985570 Aug 21, 2014 (142)
41 ILLUMINA ss833576399 Aug 21, 2014 (142)
42 ILLUMINA ss833993923 Aug 21, 2014 (142)
43 EVA-GONL ss980350260 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1071715304 Aug 21, 2014 (142)
45 1000GENOMES ss1310622037 Aug 21, 2014 (142)
46 HAMMER_LAB ss1397381151 Sep 08, 2015 (146)
47 DDI ss1429955827 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1580650964 Apr 01, 2015 (144)
49 EVA_DECODE ss1589852289 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1610546863 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1653540896 Apr 01, 2015 (144)
52 EVA_SVP ss1712687375 Apr 01, 2015 (144)
53 ILLUMINA ss1752535659 Sep 08, 2015 (146)
54 HAMMER_LAB ss1801785155 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1923594516 Feb 12, 2016 (147)
56 ILLUMINA ss1946121087 Feb 12, 2016 (147)
57 ILLUMINA ss1958700716 Feb 12, 2016 (147)
58 GENOMED ss1969797281 Jul 19, 2016 (147)
59 JJLAB ss2022382209 Sep 14, 2016 (149)
60 USC_VALOUEV ss2150511558 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2264667294 Dec 20, 2016 (150)
62 ILLUMINA ss2634144692 Nov 08, 2017 (151)
63 GRF ss2705987745 Nov 08, 2017 (151)
64 ILLUMINA ss2711009482 Nov 08, 2017 (151)
65 GNOMAD ss2811820985 Nov 08, 2017 (151)
66 SWEGEN ss2995062760 Nov 08, 2017 (151)
67 ILLUMINA ss3022391746 Nov 08, 2017 (151)
68 BIOINF_KMB_FNS_UNIBA ss3024967122 Nov 08, 2017 (151)
69 CSHL ss3345821622 Nov 08, 2017 (151)
70 ILLUMINA ss3625847663 Oct 12, 2018 (152)
71 ILLUMINA ss3629008451 Oct 12, 2018 (152)
72 ILLUMINA ss3632079612 Oct 12, 2018 (152)
73 ILLUMINA ss3633340798 Oct 12, 2018 (152)
74 ILLUMINA ss3634059996 Oct 12, 2018 (152)
75 ILLUMINA ss3634960094 Oct 12, 2018 (152)
76 ILLUMINA ss3635742776 Oct 12, 2018 (152)
77 ILLUMINA ss3636664036 Oct 12, 2018 (152)
78 ILLUMINA ss3637495304 Oct 12, 2018 (152)
79 ILLUMINA ss3638497251 Oct 12, 2018 (152)
80 ILLUMINA ss3639251093 Oct 12, 2018 (152)
81 ILLUMINA ss3639646825 Oct 12, 2018 (152)
82 ILLUMINA ss3640667388 Oct 12, 2018 (152)
83 ILLUMINA ss3643447802 Oct 12, 2018 (152)
84 ILLUMINA ss3644853874 Oct 12, 2018 (152)
85 ILLUMINA ss3652877700 Oct 12, 2018 (152)
86 EGCUT_WGS ss3662949065 Jul 13, 2019 (153)
87 EVA_DECODE ss3712480774 Jul 13, 2019 (153)
88 ILLUMINA ss3726149479 Jul 13, 2019 (153)
89 ACPOP ss3731343306 Jul 13, 2019 (153)
90 ILLUMINA ss3744237446 Jul 13, 2019 (153)
91 ILLUMINA ss3745260381 Jul 13, 2019 (153)
92 EVA ss3762063380 Jul 13, 2019 (153)
93 PAGE_CC ss3771137611 Jul 13, 2019 (153)
94 ILLUMINA ss3772754931 Jul 13, 2019 (153)
95 PACBIO ss3784778762 Jul 13, 2019 (153)
96 PACBIO ss3790227217 Jul 13, 2019 (153)
97 PACBIO ss3795102576 Jul 13, 2019 (153)
98 KHV_HUMAN_GENOMES ss3805208755 Jul 13, 2019 (153)
99 EVA ss3828657320 Apr 26, 2020 (154)
100 EVA ss3837770062 Apr 26, 2020 (154)
101 EVA ss3843207967 Apr 26, 2020 (154)
102 HGDP ss3847756365 Apr 26, 2020 (154)
103 SGDP_PRJ ss3859422619 Apr 26, 2020 (154)
104 KRGDB ss3905690479 Apr 26, 2020 (154)
105 KOGIC ss3954582131 Apr 26, 2020 (154)
106 EVA ss3984531028 Apr 26, 2021 (155)
107 EVA ss3985080904 Apr 26, 2021 (155)
108 EVA ss4017155485 Apr 26, 2021 (155)
109 TOPMED ss4621461479 Apr 26, 2021 (155)
110 TOMMO_GENOMICS ss5166686118 Apr 26, 2021 (155)
111 EVA ss5237352425 Apr 26, 2021 (155)
112 1000G_HIGH_COVERAGE ss5259973214 Oct 17, 2022 (156)
113 EVA ss5314972111 Oct 17, 2022 (156)
114 EVA ss5350402152 Oct 17, 2022 (156)
115 HUGCELL_USP ss5458649412 Oct 17, 2022 (156)
116 EVA ss5507603762 Oct 17, 2022 (156)
117 1000G_HIGH_COVERAGE ss5541465158 Oct 17, 2022 (156)
118 SANFORD_IMAGENETICS ss5624560592 Oct 17, 2022 (156)
119 SANFORD_IMAGENETICS ss5635484221 Oct 17, 2022 (156)
120 TOMMO_GENOMICS ss5701305083 Oct 17, 2022 (156)
121 EVA ss5799620061 Oct 17, 2022 (156)
122 YY_MCH ss5805277964 Oct 17, 2022 (156)
123 EVA ss5844298140 Oct 17, 2022 (156)
124 EVA ss5847246357 Oct 17, 2022 (156)
125 EVA ss5848016613 Oct 17, 2022 (156)
126 EVA ss5854319118 Oct 17, 2022 (156)
127 EVA ss5864320933 Oct 17, 2022 (156)
128 EVA ss5963867818 Oct 17, 2022 (156)
129 EVA ss5979706168 Oct 17, 2022 (156)
130 1000Genomes NC_000004.11 - 87362834 Oct 12, 2018 (152)
131 1000Genomes_30x NC_000004.12 - 86441681 Oct 17, 2022 (156)
132 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 87362834 Oct 12, 2018 (152)
133 Chileans NC_000004.11 - 87362834 Apr 26, 2020 (154)
134 Genome-wide autozygosity in Daghestan NC_000004.10 - 87581858 Apr 26, 2020 (154)
135 Genetic variation in the Estonian population NC_000004.11 - 87362834 Oct 12, 2018 (152)
136 The Danish reference pan genome NC_000004.11 - 87362834 Apr 26, 2020 (154)
137 gnomAD - Genomes NC_000004.12 - 86441681 Apr 26, 2021 (155)
138 Genome of the Netherlands Release 5 NC_000004.11 - 87362834 Apr 26, 2020 (154)
139 HGDP-CEPH-db Supplement 1 NC_000004.10 - 87581858 Apr 26, 2020 (154)
140 KOREAN population from KRGDB NC_000004.11 - 87362834 Apr 26, 2020 (154)
141 Korean Genome Project NC_000004.12 - 86441681 Apr 26, 2020 (154)
142 Northern Sweden NC_000004.11 - 87362834 Jul 13, 2019 (153)
143 The PAGE Study NC_000004.12 - 86441681 Jul 13, 2019 (153)
144 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 87362834 Apr 26, 2021 (155)
145 CNV burdens in cranial meningiomas NC_000004.11 - 87362834 Apr 26, 2021 (155)
146 Qatari NC_000004.11 - 87362834 Apr 26, 2020 (154)
147 SGDP_PRJ NC_000004.11 - 87362834 Apr 26, 2020 (154)
148 Siberian NC_000004.11 - 87362834 Apr 26, 2020 (154)
149 8.3KJPN NC_000004.11 - 87362834 Apr 26, 2021 (155)
150 14KJPN NC_000004.12 - 86441681 Oct 17, 2022 (156)
151 TopMed NC_000004.12 - 86441681 Apr 26, 2021 (155)
152 UK 10K study - Twins NC_000004.11 - 87362834 Oct 12, 2018 (152)
153 A Vietnamese Genetic Variation Database NC_000004.11 - 87362834 Jul 13, 2019 (153)
154 ALFA NC_000004.12 - 86441681 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)
rs60852933 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639251093, ss3639646825 NC_000004.9:87720012:T:C NC_000004.12:86441680:T:C (self)
356583, 434257, ss76838894, ss160682746, ss198812002, ss206317871, ss253310859, ss277812040, ss480956276, ss825514152, ss1397381151, ss1589852289, ss1712687375, ss3643447802, ss3847756365 NC_000004.10:87581857:T:C NC_000004.12:86441680:T:C (self)
22049956, 12264277, 320723, 8687313, 6815903, 5416025, 12867873, 4628171, 306831, 80388, 5636446, 11439599, 3027912, 24655425, 12264277, 2698885, ss221050570, ss232480761, ss239755062, ss480976094, ss481945279, ss485273047, ss537240191, ss557663976, ss651468590, ss778537335, ss783082453, ss784040046, ss832340804, ss832985570, ss833576399, ss833993923, ss980350260, ss1071715304, ss1310622037, ss1429955827, ss1580650964, ss1610546863, ss1653540896, ss1752535659, ss1801785155, ss1923594516, ss1946121087, ss1958700716, ss1969797281, ss2022382209, ss2150511558, ss2634144692, ss2705987745, ss2711009482, ss2811820985, ss2995062760, ss3022391746, ss3345821622, ss3625847663, ss3629008451, ss3632079612, ss3633340798, ss3634059996, ss3634960094, ss3635742776, ss3636664036, ss3637495304, ss3638497251, ss3640667388, ss3644853874, ss3652877700, ss3662949065, ss3731343306, ss3744237446, ss3745260381, ss3762063380, ss3772754931, ss3784778762, ss3790227217, ss3795102576, ss3828657320, ss3837770062, ss3859422619, ss3905690479, ss3984531028, ss3985080904, ss4017155485, ss5166686118, ss5237352425, ss5314972111, ss5350402152, ss5507603762, ss5624560592, ss5635484221, ss5799620061, ss5844298140, ss5847246357, ss5848016613, ss5963867818, ss5979706168 NC_000004.11:87362833:T:C NC_000004.12:86441680:T:C (self)
28991093, 156178949, 10960132, 359080, 35142187, 458839035, 8620503829, ss2264667294, ss3024967122, ss3712480774, ss3726149479, ss3771137611, ss3805208755, ss3843207967, ss3954582131, ss4621461479, ss5259973214, ss5458649412, ss5541465158, ss5701305083, ss5805277964, ss5854319118, ss5864320933 NC_000004.12:86441680:T:C NC_000004.12:86441680:T:C (self)
ss6039290, ss23844034, ss44526697, ss66587099, ss67340264, ss67736081, ss68904074, ss70806646, ss71386248, ss74922410, ss79183634, ss84278983, ss104090696, ss122319322, ss154297203, ss159474107, ss171806488, ss173741623 NT_016354.19:11910554:T:C NC_000004.12:86441680:T:C (self)
Help

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

1 citation for rs4488910
PMID Title Author Year Journal
24647608 Transcriptome analysis reveals differential splicing events in IPF lung tissue. Nance T et al. 2014 PloS one
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