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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.

rs4790633

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:4468335 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.138449 (36646/264690, TOPMED)
A=0.148582 (20822/140138, GnomAD)
A=0.17345 (5350/30844, ALFA) (+ 17 more)
A=0.00214 (60/28054, 14KJPN)
A=0.00042 (7/16760, 8.3KJPN)
A=0.0918 (588/6404, 1000G_30x)
A=0.0923 (462/5008, 1000G)
A=0.1656 (742/4480, Estonian)
A=0.1850 (713/3854, ALSPAC)
A=0.1807 (670/3708, TWINSUK)
A=0.0003 (1/2930, KOREAN)
A=0.0000 (0/1832, Korea1K)
A=0.190 (190/998, GoNL)
A=0.185 (111/600, NorthernSweden)
A=0.083 (46/552, SGDP_PRJ)
A=0.259 (56/216, Qatari)
A=0.005 (1/212, Vietnamese)
A=0.005 (1/186, HapMap)
A=0.05 (3/56, Siberian)
A=0.17 (7/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SPNS3 : Intron Variant
Publications
0 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 30844 A=0.17345 G=0.82655
European Sub 24722 A=0.18748 G=0.81252
African Sub 3168 A=0.0950 G=0.9050
African Others Sub 124 A=0.137 G=0.863
African American Sub 3044 A=0.0933 G=0.9067
Asian Sub 128 A=0.000 G=1.000
East Asian Sub 100 A=0.00 G=1.00
Other Asian Sub 28 A=0.00 G=1.00
Latin American 1 Sub 168 A=0.155 G=0.845
Latin American 2 Sub 700 A=0.093 G=0.907
South Asian Sub 114 A=0.096 G=0.904
Other Sub 1844 A=0.1692 G=0.8308


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 A=0.138449 G=0.861551
gnomAD - Genomes Global Study-wide 140138 A=0.148582 G=0.851418
gnomAD - Genomes European Sub 75882 A=0.18534 G=0.81466
gnomAD - Genomes African Sub 42014 A=0.10006 G=0.89994
gnomAD - Genomes American Sub 13640 A=0.11598 G=0.88402
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.1910 G=0.8090
gnomAD - Genomes East Asian Sub 3132 A=0.0006 G=0.9994
gnomAD - Genomes Other Sub 2146 A=0.1561 G=0.8439
Allele Frequency Aggregator Total Global 30844 A=0.17345 G=0.82655
Allele Frequency Aggregator European Sub 24722 A=0.18748 G=0.81252
Allele Frequency Aggregator African Sub 3168 A=0.0950 G=0.9050
Allele Frequency Aggregator Other Sub 1844 A=0.1692 G=0.8308
Allele Frequency Aggregator Latin American 2 Sub 700 A=0.093 G=0.907
Allele Frequency Aggregator Latin American 1 Sub 168 A=0.155 G=0.845
Allele Frequency Aggregator Asian Sub 128 A=0.000 G=1.000
Allele Frequency Aggregator South Asian Sub 114 A=0.096 G=0.904
14KJPN JAPANESE Study-wide 28054 A=0.00214 G=0.99786
8.3KJPN JAPANESE Study-wide 16760 A=0.00042 G=0.99958
1000Genomes_30x Global Study-wide 6404 A=0.0918 G=0.9082
1000Genomes_30x African Sub 1786 A=0.0913 G=0.9087
1000Genomes_30x Europe Sub 1266 A=0.1912 G=0.8088
1000Genomes_30x South Asian Sub 1202 A=0.0707 G=0.9293
1000Genomes_30x East Asian Sub 1170 A=0.0000 G=1.0000
1000Genomes_30x American Sub 980 A=0.100 G=0.900
1000Genomes Global Study-wide 5008 A=0.0923 G=0.9077
1000Genomes African Sub 1322 A=0.0885 G=0.9115
1000Genomes East Asian Sub 1008 A=0.0000 G=1.0000
1000Genomes Europe Sub 1006 A=0.2008 G=0.7992
1000Genomes South Asian Sub 978 A=0.073 G=0.927
1000Genomes American Sub 694 A=0.104 G=0.896
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1656 G=0.8344
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1850 G=0.8150
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1807 G=0.8193
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0003 C=0.0000, G=0.9997, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.0000 G=1.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.190 G=0.810
Northern Sweden ACPOP Study-wide 600 A=0.185 G=0.815
SGDP_PRJ Global Study-wide 552 A=0.083 G=0.917
Qatari Global Study-wide 216 A=0.259 G=0.741
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.005 G=0.995
HapMap Global Study-wide 186 A=0.005 G=0.995
HapMap African Sub 96 A=0.01 G=0.99
HapMap Asian Sub 90 A=0.00 G=1.00
Siberian Global Study-wide 56 A=0.05 G=0.95
The Danish reference pan genome Danish Study-wide 40 A=0.17 G=0.82
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 17 NC_000017.11:g.4468335A>C
GRCh38.p14 chr 17 NC_000017.11:g.4468335A>G
GRCh38.p14 chr 17 NC_000017.11:g.4468335A>T
GRCh37.p13 chr 17 NC_000017.10:g.4371630A>C
GRCh37.p13 chr 17 NC_000017.10:g.4371630A>G
GRCh37.p13 chr 17 NC_000017.10:g.4371630A>T
Gene: SPNS3, sphingolipid transporter 3 (putative) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SPNS3 transcript variant 2 NM_001320449.2:c.733-1023…

NM_001320449.2:c.733-10237A>C

N/A Intron Variant
SPNS3 transcript variant 1 NM_182538.5:c.1114-10237A…

NM_182538.5:c.1114-10237A>C

N/A Intron Variant
SPNS3 transcript variant X1 XM_011523723.1:c.1113+151…

XM_011523723.1:c.1113+15130A>C

N/A Intron Variant
SPNS3 transcript variant X2 XM_011523724.1:c.1114-102…

XM_011523724.1:c.1114-10237A>C

N/A Intron Variant
SPNS3 transcript variant X3 XM_011523725.1:c.961-1023…

XM_011523725.1:c.961-10237A>C

N/A Intron Variant
SPNS3 transcript variant X7 XM_011523728.3:c.526-1023…

XM_011523728.3:c.526-10237A>C

N/A Intron Variant
SPNS3 transcript variant X8 XM_017024345.3:c.388-1023…

XM_017024345.3:c.388-10237A>C

N/A Intron Variant
SPNS3 transcript variant X5 XM_047435588.1:c.775-1023…

XM_047435588.1:c.775-10237A>C

N/A Intron Variant
SPNS3 transcript variant X6 XM_047435589.1:c. N/A Genic Downstream Transcript Variant
SPNS3 transcript variant X4 XR_934008.1: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
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 A= C G T
GRCh38.p14 chr 17 NC_000017.11:g.4468335= NC_000017.11:g.4468335A>C NC_000017.11:g.4468335A>G NC_000017.11:g.4468335A>T
GRCh37.p13 chr 17 NC_000017.10:g.4371630= NC_000017.10:g.4371630A>C NC_000017.10:g.4371630A>G NC_000017.10:g.4371630A>T
SPNS3 transcript variant 2 NM_001320449.2:c.733-10237= NM_001320449.2:c.733-10237A>C NM_001320449.2:c.733-10237A>G NM_001320449.2:c.733-10237A>T
SPNS3 transcript variant 1 NM_182538.4:c.1114-10237= NM_182538.4:c.1114-10237A>C NM_182538.4:c.1114-10237A>G NM_182538.4:c.1114-10237A>T
SPNS3 transcript variant 1 NM_182538.5:c.1114-10237= NM_182538.5:c.1114-10237A>C NM_182538.5:c.1114-10237A>G NM_182538.5:c.1114-10237A>T
SPNS3 transcript variant X1 XM_005256520.1:c.733-10237= XM_005256520.1:c.733-10237A>C XM_005256520.1:c.733-10237A>G XM_005256520.1:c.733-10237A>T
SPNS3 transcript variant X1 XM_011523723.1:c.1113+15130= XM_011523723.1:c.1113+15130A>C XM_011523723.1:c.1113+15130A>G XM_011523723.1:c.1113+15130A>T
SPNS3 transcript variant X2 XM_011523724.1:c.1114-10237= XM_011523724.1:c.1114-10237A>C XM_011523724.1:c.1114-10237A>G XM_011523724.1:c.1114-10237A>T
SPNS3 transcript variant X3 XM_011523725.1:c.961-10237= XM_011523725.1:c.961-10237A>C XM_011523725.1:c.961-10237A>G XM_011523725.1:c.961-10237A>T
SPNS3 transcript variant X7 XM_011523728.3:c.526-10237= XM_011523728.3:c.526-10237A>C XM_011523728.3:c.526-10237A>G XM_011523728.3:c.526-10237A>T
SPNS3 transcript variant X8 XM_017024345.3:c.388-10237= XM_017024345.3:c.388-10237A>C XM_017024345.3:c.388-10237A>G XM_017024345.3:c.388-10237A>T
SPNS3 transcript variant X5 XM_047435588.1:c.775-10237= XM_047435588.1:c.775-10237A>C XM_047435588.1:c.775-10237A>G XM_047435588.1:c.775-10237A>T
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#.

87 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6610898 Feb 20, 2003 (111)
2 CSHL-HAPMAP ss17583951 Feb 27, 2004 (120)
3 SSAHASNP ss21378191 Apr 05, 2004 (121)
4 ABI ss40851737 Mar 14, 2006 (126)
5 HGSV ss78919609 Dec 06, 2007 (129)
6 HGSV ss82709338 Dec 14, 2007 (130)
7 BCMHGSC_JDW ss90515312 Mar 24, 2008 (129)
8 HUMANGENOME_JCVI ss96576030 Feb 02, 2009 (130)
9 BGI ss106494428 Feb 02, 2009 (130)
10 1000GENOMES ss109605384 Jan 24, 2009 (130)
11 1000GENOMES ss113225160 Jan 25, 2009 (130)
12 ILLUMINA-UK ss117981485 Feb 14, 2009 (130)
13 ENSEMBL ss136559981 Dec 01, 2009 (131)
14 ENSEMBL ss136949042 Dec 01, 2009 (131)
15 GMI ss157779357 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss167693451 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss168938079 Jul 04, 2010 (132)
18 BUSHMAN ss202150719 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss207875214 Jul 04, 2010 (132)
20 1000GENOMES ss227436970 Jul 14, 2010 (132)
21 1000GENOMES ss237164065 Jul 15, 2010 (132)
22 1000GENOMES ss243477763 Jul 15, 2010 (132)
23 BL ss255451374 May 09, 2011 (134)
24 GMI ss282672203 May 04, 2012 (137)
25 GMI ss287138122 Apr 25, 2013 (138)
26 PJP ss291962333 May 09, 2011 (134)
27 ILLUMINA ss479838778 May 04, 2012 (137)
28 ILLUMINA ss483631256 May 04, 2012 (137)
29 ILLUMINA ss533323066 Sep 08, 2015 (146)
30 TISHKOFF ss565136100 Apr 25, 2013 (138)
31 SSMP ss660922913 Apr 25, 2013 (138)
32 ILLUMINA ss780638965 Sep 08, 2015 (146)
33 ILLUMINA ss781081331 Sep 08, 2015 (146)
34 ILLUMINA ss836133216 Sep 08, 2015 (146)
35 EVA-GONL ss992872191 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1080896057 Aug 21, 2014 (142)
37 1000GENOMES ss1357714063 Aug 21, 2014 (142)
38 DDI ss1427961533 Apr 01, 2015 (144)
39 EVA_GENOME_DK ss1578067815 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1635188749 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1678182782 Apr 01, 2015 (144)
42 EVA_DECODE ss1696912666 Apr 01, 2015 (144)
43 HAMMER_LAB ss1808680393 Sep 08, 2015 (146)
44 WEILL_CORNELL_DGM ss1936318448 Feb 12, 2016 (147)
45 GENOMED ss1968341093 Jul 19, 2016 (147)
46 JJLAB ss2028947165 Sep 14, 2016 (149)
47 USC_VALOUEV ss2157392743 Dec 20, 2016 (150)
48 HUMAN_LONGEVITY ss2215121755 Dec 20, 2016 (150)
49 SYSTEMSBIOZJU ss2628964486 Nov 08, 2017 (151)
50 ILLUMINA ss2633368465 Nov 08, 2017 (151)
51 GRF ss2701934308 Nov 08, 2017 (151)
52 GNOMAD ss2947154638 Nov 08, 2017 (151)
53 SWEGEN ss3015113714 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3028291969 Nov 08, 2017 (151)
55 CSHL ss3351629034 Nov 08, 2017 (151)
56 ILLUMINA ss3627612428 Oct 12, 2018 (152)
57 ILLUMINA ss3631351385 Oct 12, 2018 (152)
58 ILLUMINA ss3641980287 Oct 12, 2018 (152)
59 URBANLAB ss3650592293 Oct 12, 2018 (152)
60 EGCUT_WGS ss3682081139 Jul 13, 2019 (153)
61 EVA_DECODE ss3699986263 Jul 13, 2019 (153)
62 ACPOP ss3741828876 Jul 13, 2019 (153)
63 EVA ss3754390540 Jul 13, 2019 (153)
64 PACBIO ss3788135601 Jul 13, 2019 (153)
65 PACBIO ss3793105930 Jul 13, 2019 (153)
66 PACBIO ss3797991501 Jul 13, 2019 (153)
67 KHV_HUMAN_GENOMES ss3819660022 Jul 13, 2019 (153)
68 EVA ss3834752841 Apr 27, 2020 (154)
69 EVA ss3840984677 Apr 27, 2020 (154)
70 EVA ss3846478889 Apr 27, 2020 (154)
71 SGDP_PRJ ss3885235568 Apr 27, 2020 (154)
72 KRGDB ss3934819307 Apr 27, 2020 (154)
73 KOGIC ss3978297187 Apr 27, 2020 (154)
74 TOPMED ss5027843674 Apr 26, 2021 (155)
75 TOMMO_GENOMICS ss5221269072 Apr 26, 2021 (155)
76 1000G_HIGH_COVERAGE ss5302254032 Oct 16, 2022 (156)
77 EVA ss5426081040 Oct 16, 2022 (156)
78 HUGCELL_USP ss5495447461 Oct 16, 2022 (156)
79 1000G_HIGH_COVERAGE ss5605531644 Oct 16, 2022 (156)
80 SANFORD_IMAGENETICS ss5659626429 Oct 16, 2022 (156)
81 TOMMO_GENOMICS ss5776795043 Oct 16, 2022 (156)
82 YY_MCH ss5816292472 Oct 16, 2022 (156)
83 EVA ss5833652900 Oct 16, 2022 (156)
84 EVA ss5851717742 Oct 16, 2022 (156)
85 EVA ss5913034830 Oct 16, 2022 (156)
86 EVA ss5951035436 Oct 16, 2022 (156)
87 EVA ss5980947504 Oct 16, 2022 (156)
88 1000Genomes NC_000017.10 - 4371630 Oct 12, 2018 (152)
89 1000Genomes_30x NC_000017.11 - 4468335 Oct 16, 2022 (156)
90 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 4371630 Oct 12, 2018 (152)
91 Genetic variation in the Estonian population NC_000017.10 - 4371630 Oct 12, 2018 (152)
92 The Danish reference pan genome NC_000017.10 - 4371630 Apr 27, 2020 (154)
93 gnomAD - Genomes NC_000017.11 - 4468335 Apr 26, 2021 (155)
94 Genome of the Netherlands Release 5 NC_000017.10 - 4371630 Apr 27, 2020 (154)
95 HapMap NC_000017.11 - 4468335 Apr 27, 2020 (154)
96 KOREAN population from KRGDB NC_000017.10 - 4371630 Apr 27, 2020 (154)
97 Korean Genome Project NC_000017.11 - 4468335 Apr 27, 2020 (154)
98 Northern Sweden NC_000017.10 - 4371630 Jul 13, 2019 (153)
99 Qatari NC_000017.10 - 4371630 Apr 27, 2020 (154)
100 SGDP_PRJ NC_000017.10 - 4371630 Apr 27, 2020 (154)
101 Siberian NC_000017.10 - 4371630 Apr 27, 2020 (154)
102 8.3KJPN NC_000017.10 - 4371630 Apr 26, 2021 (155)
103 14KJPN NC_000017.11 - 4468335 Oct 16, 2022 (156)
104 TopMed NC_000017.11 - 4468335 Apr 26, 2021 (155)
105 UK 10K study - Twins NC_000017.10 - 4371630 Oct 12, 2018 (152)
106 A Vietnamese Genetic Variation Database NC_000017.10 - 4371630 Jul 13, 2019 (153)
107 ALFA NC_000017.11 - 4468335 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)
rs56683847 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
41996701, ss3934819307 NC_000017.10:4371629:A:C NC_000017.11:4468334:A:C (self)
ss78919609, ss82709338, ss90515312, ss109605384, ss113225160, ss117981485, ss167693451, ss168938079, ss202150719, ss207875214, ss255451374, ss282672203, ss287138122, ss291962333, ss483631256, ss1696912666 NC_000017.9:4318378:A:G NC_000017.11:4468334:A:G (self)
70920846, 39333219, 27819387, 4273713, 17535635, 41996701, 15113741, 18360370, 37252548, 9909097, 79238379, 39333219, 8713947, ss227436970, ss237164065, ss243477763, ss479838778, ss533323066, ss565136100, ss660922913, ss780638965, ss781081331, ss836133216, ss992872191, ss1080896057, ss1357714063, ss1427961533, ss1578067815, ss1635188749, ss1678182782, ss1808680393, ss1936318448, ss1968341093, ss2028947165, ss2157392743, ss2628964486, ss2633368465, ss2701934308, ss2947154638, ss3015113714, ss3351629034, ss3627612428, ss3631351385, ss3641980287, ss3682081139, ss3741828876, ss3754390540, ss3788135601, ss3793105930, ss3797991501, ss3834752841, ss3840984677, ss3885235568, ss3934819307, ss5221269072, ss5426081040, ss5659626429, ss5833652900, ss5951035436, ss5980947504 NC_000017.10:4371629:A:G NC_000017.11:4468334:A:G (self)
93057579, 500107346, 1448915, 34675188, 110632147, 243389336, 11022845097, ss2215121755, ss3028291969, ss3650592293, ss3699986263, ss3819660022, ss3846478889, ss3978297187, ss5027843674, ss5302254032, ss5495447461, ss5605531644, ss5776795043, ss5816292472, ss5851717742, ss5913034830 NC_000017.11:4468334:A:G NC_000017.11:4468334:A:G (self)
ss17583951, ss21378191 NT_010718.14:3218659:A:G NC_000017.11:4468334:A:G (self)
ss6610898, ss40851737, ss96576030, ss106494428, ss136559981, ss136949042, ss157779357 NT_010718.16:3975003:A:G NC_000017.11:4468334:A:G (self)
41996701, ss3934819307 NC_000017.10:4371629:A:T NC_000017.11:4468334:A:T (self)
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 rs4790633

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