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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.

rs54790

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:96800185 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.294072 (77838/264690, TOPMED)
C=0.283294 (39630/139890, GnomAD)
C=0.32408 (25066/77346, ALFA) (+ 18 more)
C=0.41683 (6986/16760, 8.3KJPN)
C=0.3415 (1710/5008, 1000G)
C=0.2714 (1216/4480, Estonian)
C=0.3352 (1292/3854, ALSPAC)
C=0.3395 (1259/3708, TWINSUK)
C=0.4215 (1235/2930, KOREAN)
C=0.3397 (708/2084, HGDP_Stanford)
C=0.2839 (536/1888, HapMap)
C=0.4252 (779/1832, Korea1K)
C=0.315 (314/998, GoNL)
C=0.411 (257/626, Chileans)
C=0.310 (186/600, NorthernSweden)
T=0.332 (113/340, SGDP_PRJ)
C=0.185 (40/216, Qatari)
C=0.491 (105/214, Vietnamese)
T=0.41 (32/78, Ancient Sardinia)
C=0.38 (15/40, GENOME_DK)
T=0.42 (10/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PTBP2 : Intron Variant
Publications
0 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 1 NC_000001.11:g.96800185T>C
GRCh38.p13 chr 1 NC_000001.11:g.96800185T>G
GRCh37.p13 chr 1 NC_000001.10:g.97265741T>C
GRCh37.p13 chr 1 NC_000001.10:g.97265741T>G
Gene: PTBP2, polypyrimidine tract binding protein 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PTBP2 transcript variant 1 NM_001300985.2:c.905-4600…

NM_001300985.2:c.905-4600T>C

N/A Intron Variant
PTBP2 transcript variant 2 NM_001300986.2:c.929-4615…

NM_001300986.2:c.929-4615T>C

N/A Intron Variant
PTBP2 transcript variant 3 NM_001300987.2:c.938-4600…

NM_001300987.2:c.938-4600T>C

N/A Intron Variant
PTBP2 transcript variant 4 NM_001300988.2:c.905-4600…

NM_001300988.2:c.905-4600T>C

N/A Intron Variant
PTBP2 transcript variant 5 NM_001300989.2:c.905-4615…

NM_001300989.2:c.905-4615T>C

N/A Intron Variant
PTBP2 transcript variant 7 NM_001300990.2:c.749-4615…

NM_001300990.2:c.749-4615T>C

N/A Intron Variant
PTBP2 transcript variant 6 NM_021190.4:c.905-4615T>C N/A Intron Variant
PTBP2 transcript variant 9 NR_125356.1:n. N/A Intron Variant
PTBP2 transcript variant 8 NR_125357.2:n. N/A Intron Variant
PTBP2 transcript variant X1 XM_011541874.2:c.929-4600…

XM_011541874.2:c.929-4600T>C

N/A Intron Variant
PTBP2 transcript variant X2 XM_011541875.2:c.929-4615…

XM_011541875.2:c.929-4615T>C

N/A Intron Variant
PTBP2 transcript variant X3 XM_011541876.2:c.929-4600…

XM_011541876.2:c.929-4600T>C

N/A Intron Variant
PTBP2 transcript variant X10 XM_017001951.1:c.938-4600…

XM_017001951.1:c.938-4600T>C

N/A Intron Variant
PTBP2 transcript variant X8 XR_001737346.2:n. N/A Intron Variant
PTBP2 transcript variant X9 XR_001737347.2:n. N/A Intron Variant
PTBP2 transcript variant X5 XR_946720.2:n. N/A Intron Variant
PTBP2 transcript variant X4 XR_946721.2:n. N/A Intron Variant
PTBP2 transcript variant X7 XR_946722.2:n. N/A Intron Variant
PTBP2 transcript variant X6 XR_946723.3:n. 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

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 77346 T=0.67592 C=0.32408, G=0.00000
European Sub 61488 T=0.67288 C=0.32712, G=0.00000
African Sub 5024 T=0.8573 C=0.1427, G=0.0000
African Others Sub 170 T=0.906 C=0.094, G=0.000
African American Sub 4854 T=0.8556 C=0.1444, G=0.0000
Asian Sub 234 T=0.491 C=0.509, G=0.000
East Asian Sub 162 T=0.556 C=0.444, G=0.000
Other Asian Sub 72 T=0.35 C=0.65, G=0.00
Latin American 1 Sub 392 T=0.699 C=0.301, G=0.000
Latin American 2 Sub 3384 T=0.6253 C=0.3747, G=0.0000
South Asian Sub 4966 T=0.5787 C=0.4213, G=0.0000
Other Sub 1858 T=0.6566 C=0.3434, G=0.0000


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=0.705928 C=0.294072
gnomAD - Genomes Global Study-wide 139890 T=0.716706 C=0.283294
gnomAD - Genomes European Sub 75768 T=0.67551 C=0.32449
gnomAD - Genomes African Sub 41904 T=0.84085 C=0.15915
gnomAD - Genomes American Sub 13624 T=0.64144 C=0.35856
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.6156 C=0.3844
gnomAD - Genomes East Asian Sub 3122 T=0.5234 C=0.4766
gnomAD - Genomes Other Sub 2150 T=0.6628 C=0.3372
8.3KJPN JAPANESE Study-wide 16760 T=0.58317 C=0.41683
1000Genomes Global Study-wide 5008 T=0.6585 C=0.3415
1000Genomes African Sub 1322 T=0.8782 C=0.1218
1000Genomes East Asian Sub 1008 T=0.5456 C=0.4544
1000Genomes Europe Sub 1006 T=0.6740 C=0.3260
1000Genomes South Asian Sub 978 T=0.503 C=0.497
1000Genomes American Sub 694 T=0.601 C=0.399
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7286 C=0.2714
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6648 C=0.3352
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.6605 C=0.3395
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5785 C=0.4215
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.6603 C=0.3397
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.594 C=0.406
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.722 C=0.278
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.734 C=0.266
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.637 C=0.362
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.798 C=0.202
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.574 C=0.426
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.28 C=0.72
HapMap Global Study-wide 1888 T=0.7161 C=0.2839
HapMap American Sub 766 T=0.636 C=0.364
HapMap African Sub 692 T=0.873 C=0.127
HapMap Asian Sub 254 T=0.563 C=0.437
HapMap Europe Sub 176 T=0.670 C=0.330
Korean Genome Project KOREAN Study-wide 1832 T=0.5748 C=0.4252
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.685 C=0.315
Chileans Chilean Study-wide 626 T=0.589 C=0.411
Northern Sweden ACPOP Study-wide 600 T=0.690 C=0.310
SGDP_PRJ Global Study-wide 340 T=0.332 C=0.668
Qatari Global Study-wide 216 T=0.815 C=0.185
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.509 C=0.491
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 78 T=0.41 C=0.59
The Danish reference pan genome Danish Study-wide 40 T=0.62 C=0.38
Siberian Global Study-wide 24 T=0.42 C=0.58
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 G
GRCh38.p13 chr 1 NC_000001.11:g.96800185= NC_000001.11:g.96800185T>C NC_000001.11:g.96800185T>G
GRCh37.p13 chr 1 NC_000001.10:g.97265741= NC_000001.10:g.97265741T>C NC_000001.10:g.97265741T>G
PTBP2 transcript variant 1 NM_001300985.2:c.905-4600= NM_001300985.2:c.905-4600T>C NM_001300985.2:c.905-4600T>G
PTBP2 transcript variant 2 NM_001300986.2:c.929-4615= NM_001300986.2:c.929-4615T>C NM_001300986.2:c.929-4615T>G
PTBP2 transcript variant 3 NM_001300987.2:c.938-4600= NM_001300987.2:c.938-4600T>C NM_001300987.2:c.938-4600T>G
PTBP2 transcript variant 4 NM_001300988.2:c.905-4600= NM_001300988.2:c.905-4600T>C NM_001300988.2:c.905-4600T>G
PTBP2 transcript variant 5 NM_001300989.2:c.905-4615= NM_001300989.2:c.905-4615T>C NM_001300989.2:c.905-4615T>G
PTBP2 transcript variant 7 NM_001300990.2:c.749-4615= NM_001300990.2:c.749-4615T>C NM_001300990.2:c.749-4615T>G
PTBP2 transcript NM_021190.2:c.905-4615= NM_021190.2:c.905-4615T>C NM_021190.2:c.905-4615T>G
PTBP2 transcript variant 6 NM_021190.4:c.905-4615= NM_021190.4:c.905-4615T>C NM_021190.4:c.905-4615T>G
PTBP2 transcript variant X1 XM_005271084.1:c.905-4600= XM_005271084.1:c.905-4600T>C XM_005271084.1:c.905-4600T>G
PTBP2 transcript variant X2 XM_005271085.1:c.905-4600= XM_005271085.1:c.905-4600T>C XM_005271085.1:c.905-4600T>G
PTBP2 transcript variant X3 XM_005271086.1:c.905-4615= XM_005271086.1:c.905-4615T>C XM_005271086.1:c.905-4615T>G
PTBP2 transcript variant X1 XM_011541874.2:c.929-4600= XM_011541874.2:c.929-4600T>C XM_011541874.2:c.929-4600T>G
PTBP2 transcript variant X2 XM_011541875.2:c.929-4615= XM_011541875.2:c.929-4615T>C XM_011541875.2:c.929-4615T>G
PTBP2 transcript variant X3 XM_011541876.2:c.929-4600= XM_011541876.2:c.929-4600T>C XM_011541876.2:c.929-4600T>G
PTBP2 transcript variant X10 XM_017001951.1:c.938-4600= XM_017001951.1:c.938-4600T>C XM_017001951.1:c.938-4600T>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#.

88 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss60939 Oct 05, 2000 (92)
2 KWOK ss355820 Jul 10, 2000 (79)
3 SC_JCM ss764411 Aug 11, 2000 (87)
4 KWOK ss1132007 Oct 04, 2000 (87)
5 KWOK ss1132740 Oct 04, 2000 (87)
6 KWOK ss1133198 Oct 04, 2000 (87)
7 KWOK ss1794722 Oct 18, 2000 (87)
8 KWOK ss1795127 Oct 18, 2000 (87)
9 PERLEGEN ss23860539 Sep 20, 2004 (123)
10 ABI ss44098598 Mar 14, 2006 (126)
11 AFFY ss65921597 Dec 02, 2006 (127)
12 AFFY ss66060281 Dec 02, 2006 (127)
13 ILLUMINA ss66686010 Dec 02, 2006 (127)
14 ILLUMINA ss67416220 Dec 02, 2006 (127)
15 ILLUMINA ss67778983 Dec 02, 2006 (127)
16 ILLUMINA ss70844921 May 25, 2008 (130)
17 ILLUMINA ss71429374 May 18, 2007 (127)
18 ILLUMINA ss75574011 Dec 06, 2007 (129)
19 AFFY ss75977977 Dec 06, 2007 (129)
20 ILLUMINA ss79208262 Dec 15, 2007 (130)
21 KRIBB_YJKIM ss80750519 Dec 15, 2007 (130)
22 KRIBB_YJKIM ss83361518 Dec 15, 2007 (130)
23 HUMANGENOME_JCVI ss99231260 Feb 05, 2009 (130)
24 1000GENOMES ss108438153 Jan 23, 2009 (130)
25 ILLUMINA ss122465371 Dec 01, 2009 (131)
26 ENSEMBL ss143417944 Dec 01, 2009 (131)
27 ILLUMINA ss154338576 Dec 01, 2009 (131)
28 GMI ss155389576 Dec 01, 2009 (131)
29 ILLUMINA ss159515155 Dec 01, 2009 (131)
30 AFFY ss169937309 Jul 04, 2010 (132)
31 ILLUMINA ss172028153 Jul 04, 2010 (132)
32 ILLUMINA ss173918936 Jul 04, 2010 (132)
33 BUSHMAN ss198811610 Jul 04, 2010 (132)
34 1000GENOMES ss230649289 Jul 14, 2010 (132)
35 1000GENOMES ss238318413 Jul 15, 2010 (132)
36 BL ss253303112 May 09, 2011 (134)
37 GMI ss275938757 May 04, 2012 (137)
38 ILLUMINA ss410938805 Sep 17, 2011 (135)
39 TISHKOFF ss554462968 Apr 25, 2013 (138)
40 SSMP ss648240933 Apr 25, 2013 (138)
41 ILLUMINA ss825538780 Apr 01, 2015 (144)
42 ILLUMINA ss833026450 Aug 21, 2014 (142)
43 ILLUMINA ss833617278 Aug 21, 2014 (142)
44 EVA-GONL ss975462467 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1068113195 Aug 21, 2014 (142)
46 1000GENOMES ss1292031238 Aug 21, 2014 (142)
47 DDI ss1425906142 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1574256569 Apr 01, 2015 (144)
49 EVA_DECODE ss1584839718 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1600775229 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1643769262 Apr 01, 2015 (144)
52 EVA_SVP ss1712355578 Apr 01, 2015 (144)
53 HAMMER_LAB ss1794782752 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1918663215 Feb 12, 2016 (147)
55 GENOMED ss1966816430 Jul 19, 2016 (147)
56 JJLAB ss2019852912 Sep 14, 2016 (149)
57 USC_VALOUEV ss2147871725 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2164865032 Dec 20, 2016 (150)
59 TOPMED ss2327210881 Dec 20, 2016 (150)
60 SYSTEMSBIOZJU ss2624438365 Nov 08, 2017 (151)
61 GRF ss2697798814 Nov 08, 2017 (151)
62 GNOMAD ss2758415014 Nov 08, 2017 (151)
63 SWEGEN ss2987275205 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3023690121 Nov 08, 2017 (151)
65 TOPMED ss3084134685 Nov 08, 2017 (151)
66 CSHL ss3343587298 Nov 08, 2017 (151)
67 ILLUMINA ss3637773935 Oct 11, 2018 (152)
68 ILLUMINA ss3638905382 Oct 11, 2018 (152)
69 ILLUMINA ss3639450609 Oct 11, 2018 (152)
70 ILLUMINA ss3642784218 Oct 11, 2018 (152)
71 URBANLAB ss3646727773 Oct 11, 2018 (152)
72 EGCUT_WGS ss3655357229 Jul 12, 2019 (153)
73 EVA_DECODE ss3687330124 Jul 12, 2019 (153)
74 ACPOP ss3727297343 Jul 12, 2019 (153)
75 EVA ss3746551609 Jul 12, 2019 (153)
76 PACBIO ss3783491563 Jul 12, 2019 (153)
77 PACBIO ss3789137330 Jul 12, 2019 (153)
78 PACBIO ss3794010169 Jul 12, 2019 (153)
79 KHV_HUMAN_GENOMES ss3799553366 Jul 12, 2019 (153)
80 EVA ss3826317467 Apr 25, 2020 (154)
81 HGDP ss3847343183 Apr 25, 2020 (154)
82 SGDP_PRJ ss3849439443 Apr 25, 2020 (154)
83 KRGDB ss3894512926 Apr 25, 2020 (154)
84 KOGIC ss3945057628 Apr 25, 2020 (154)
85 EVA ss3984813987 Apr 25, 2021 (155)
86 EVA ss4016926371 Apr 25, 2021 (155)
87 TOPMED ss4459982924 Apr 25, 2021 (155)
88 TOMMO_GENOMICS ss5145228180 Apr 25, 2021 (155)
89 1000Genomes NC_000001.10 - 97265741 Oct 11, 2018 (152)
90 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 97265741 Oct 11, 2018 (152)
91 Chileans NC_000001.10 - 97265741 Apr 25, 2020 (154)
92 Genetic variation in the Estonian population NC_000001.10 - 97265741 Oct 11, 2018 (152)
93 The Danish reference pan genome NC_000001.10 - 97265741 Apr 25, 2020 (154)
94 gnomAD - Genomes NC_000001.11 - 96800185 Apr 25, 2021 (155)
95 Genome of the Netherlands Release 5 NC_000001.10 - 97265741 Apr 25, 2020 (154)
96 HGDP-CEPH-db Supplement 1 NC_000001.9 - 97038329 Apr 25, 2020 (154)
97 HapMap NC_000001.11 - 96800185 Apr 25, 2020 (154)
98 KOREAN population from KRGDB NC_000001.10 - 97265741 Apr 25, 2020 (154)
99 Korean Genome Project NC_000001.11 - 96800185 Apr 25, 2020 (154)
100 Northern Sweden NC_000001.10 - 97265741 Jul 12, 2019 (153)
101 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 97265741 Apr 25, 2021 (155)
102 Qatari NC_000001.10 - 97265741 Apr 25, 2020 (154)
103 SGDP_PRJ NC_000001.10 - 97265741 Apr 25, 2020 (154)
104 Siberian NC_000001.10 - 97265741 Apr 25, 2020 (154)
105 8.3KJPN NC_000001.10 - 97265741 Apr 25, 2021 (155)
106 TopMed NC_000001.11 - 96800185 Apr 25, 2021 (155)
107 UK 10K study - Twins NC_000001.10 - 97265741 Oct 11, 2018 (152)
108 A Vietnamese Genetic Variation Database NC_000001.10 - 97265741 Jul 12, 2019 (153)
109 ALFA NC_000001.11 - 96800185 Apr 25, 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)
rs592618 Oct 23, 2000 (87)
rs720091 Jan 18, 2001 (92)
rs59890081 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638905382, ss3639450609 NC_000001.8:96977761:T:C NC_000001.11:96800184:T:C (self)
21075, ss66060281, ss75977977, ss108438153, ss169937309, ss198811610, ss253303112, ss275938757, ss410938805, ss825538780, ss1584839718, ss1712355578, ss3642784218, ss3847343183 NC_000001.9:97038328:T:C NC_000001.11:96800184:T:C (self)
2792236, 1538384, 16259, 1095477, 1620861, 666955, 1690320, 582208, 39914, 705145, 1456423, 388079, 3197487, 1538384, 331051, ss230649289, ss238318413, ss554462968, ss648240933, ss833026450, ss833617278, ss975462467, ss1068113195, ss1292031238, ss1425906142, ss1574256569, ss1600775229, ss1643769262, ss1794782752, ss1918663215, ss1966816430, ss2019852912, ss2147871725, ss2327210881, ss2624438365, ss2697798814, ss2758415014, ss2987275205, ss3343587298, ss3637773935, ss3655357229, ss3727297343, ss3746551609, ss3783491563, ss3789137330, ss3794010169, ss3826317467, ss3849439443, ss3894512926, ss3984813987, ss4016926371, ss5145228180 NC_000001.10:97265740:T:C NC_000001.11:96800184:T:C (self)
19722932, 132512, 1435629, 14856621, 23589259, 13247046527, ss2164865032, ss3023690121, ss3084134685, ss3646727773, ss3687330124, ss3799553366, ss3945057628, ss4459982924 NC_000001.11:96800184:T:C NC_000001.11:96800184:T:C (self)
ss60939, ss355820, ss764411, ss1132007, ss1132740, ss1133198, ss1794722, ss1795127, ss23860539, ss44098598, ss65921597, ss66686010, ss67416220, ss67778983, ss70844921, ss71429374, ss75574011, ss79208262, ss80750519, ss83361518, ss99231260, ss122465371, ss143417944, ss154338576, ss155389576, ss159515155, ss172028153, ss173918936 NT_032977.9:67237658:T:C NC_000001.11:96800184:T:C (self)
13247046527 NC_000001.11:96800184:T:G NC_000001.11:96800184:T:G
Help

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

No publications for rs54790

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