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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.

rs4244593

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr17:17516904 (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>A / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.367823 (97359/264690, TOPMED)
T=0.421585 (95817/227278, ALFA)
T=0.36395 (28638/78686, PAGE_STUDY) (+ 16 more)
G=0.47363 (7938/16760, 8.3KJPN)
T=0.4253 (2130/5008, 1000G)
T=0.4328 (1939/4480, Estonian)
T=0.3980 (1534/3854, ALSPAC)
T=0.4094 (1518/3708, TWINSUK)
T=0.4798 (1405/2928, KOREAN)
T=0.3745 (707/1888, HapMap)
T=0.4831 (884/1830, Korea1K)
T=0.412 (411/998, GoNL)
G=0.480 (379/790, PRJEB37584)
T=0.395 (237/600, NorthernSweden)
T=0.268 (117/436, SGDP_PRJ)
T=0.481 (104/216, Qatari)
T=0.486 (103/212, Vietnamese)
T=0.25 (12/48, Siberian)
T=0.33 (13/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PEMT : Intron Variant
Publications
3 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 227278 T=0.421585 A=0.000000, G=0.578415
European Sub 199008 T=0.416752 A=0.000000, G=0.583248
African Sub 5120 T=0.2562 A=0.0000, G=0.7438
African Others Sub 168 T=0.167 A=0.000, G=0.833
African American Sub 4952 T=0.2593 A=0.0000, G=0.7407
Asian Sub 728 T=0.505 A=0.000, G=0.495
East Asian Sub 566 T=0.509 A=0.000, G=0.491
Other Asian Sub 162 T=0.494 A=0.000, G=0.506
Latin American 1 Sub 854 T=0.383 A=0.000, G=0.617
Latin American 2 Sub 8542 T=0.5078 A=0.0000, G=0.4922
South Asian Sub 5004 T=0.6153 A=0.0000, G=0.3847
Other Sub 8022 T=0.4308 A=0.0000, G=0.5692


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=0.367823 G=0.632177
Allele Frequency Aggregator Total Global 227278 T=0.421585 A=0.000000, G=0.578415
Allele Frequency Aggregator European Sub 199008 T=0.416752 A=0.000000, G=0.583248
Allele Frequency Aggregator Latin American 2 Sub 8542 T=0.5078 A=0.0000, G=0.4922
Allele Frequency Aggregator Other Sub 8022 T=0.4308 A=0.0000, G=0.5692
Allele Frequency Aggregator African Sub 5120 T=0.2562 A=0.0000, G=0.7438
Allele Frequency Aggregator South Asian Sub 5004 T=0.6153 A=0.0000, G=0.3847
Allele Frequency Aggregator Latin American 1 Sub 854 T=0.383 A=0.000, G=0.617
Allele Frequency Aggregator Asian Sub 728 T=0.505 A=0.000, G=0.495
The PAGE Study Global Study-wide 78686 T=0.36395 G=0.63605
The PAGE Study AfricanAmerican Sub 32508 T=0.23053 G=0.76947
The PAGE Study Mexican Sub 10806 T=0.50185 G=0.49815
The PAGE Study Asian Sub 8316 T=0.5368 G=0.4632
The PAGE Study PuertoRican Sub 7918 T=0.3604 G=0.6396
The PAGE Study NativeHawaiian Sub 4534 T=0.5430 G=0.4570
The PAGE Study Cuban Sub 4230 T=0.3686 G=0.6314
The PAGE Study Dominican Sub 3826 T=0.3225 G=0.6775
The PAGE Study CentralAmerican Sub 2450 T=0.5020 G=0.4980
The PAGE Study SouthAmerican Sub 1982 T=0.4384 G=0.5616
The PAGE Study NativeAmerican Sub 1260 T=0.4135 G=0.5865
The PAGE Study SouthAsian Sub 856 T=0.617 G=0.383
8.3KJPN JAPANESE Study-wide 16760 T=0.52637 G=0.47363
1000Genomes Global Study-wide 5008 T=0.4253 G=0.5747
1000Genomes African Sub 1322 T=0.1831 G=0.8169
1000Genomes East Asian Sub 1008 T=0.5000 G=0.5000
1000Genomes Europe Sub 1006 T=0.4145 G=0.5855
1000Genomes South Asian Sub 978 T=0.629 G=0.371
1000Genomes American Sub 694 T=0.507 G=0.493
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4328 G=0.5672
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.3980 G=0.6020
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4094 G=0.5906
KOREAN population from KRGDB KOREAN Study-wide 2928 T=0.4798 G=0.5202
HapMap Global Study-wide 1888 T=0.3745 G=0.6255
HapMap American Sub 770 T=0.466 G=0.534
HapMap African Sub 688 T=0.201 G=0.799
HapMap Asian Sub 254 T=0.496 G=0.504
HapMap Europe Sub 176 T=0.477 G=0.523
Korean Genome Project KOREAN Study-wide 1830 T=0.4831 G=0.5169
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.412 G=0.588
CNV burdens in cranial meningiomas Global Study-wide 790 T=0.520 G=0.480
CNV burdens in cranial meningiomas CRM Sub 790 T=0.520 G=0.480
Northern Sweden ACPOP Study-wide 600 T=0.395 G=0.605
SGDP_PRJ Global Study-wide 436 T=0.268 G=0.732
Qatari Global Study-wide 216 T=0.481 G=0.519
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.486 G=0.514
Siberian Global Study-wide 48 T=0.25 G=0.75
The Danish reference pan genome Danish Study-wide 40 T=0.33 G=0.68
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 17 NC_000017.11:g.17516904T>A
GRCh38.p13 chr 17 NC_000017.11:g.17516904T>G
GRCh37.p13 chr 17 NC_000017.10:g.17420218T>A
GRCh37.p13 chr 17 NC_000017.10:g.17420218T>G
Gene: PEMT, phosphatidylethanolamine N-methyltransferase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PEMT transcript variant 4 NM_001267551.2:c.255-4250…

NM_001267551.2:c.255-4250A>T

N/A Intron Variant
PEMT transcript variant 5 NM_001267552.2:c.321-4250…

NM_001267552.2:c.321-4250A>T

N/A Intron Variant
PEMT transcript variant 2 NM_007169.3:c.210-4250A>T N/A Intron Variant
PEMT transcript variant 1 NM_148172.3:c.321-4250A>T N/A Intron Variant
PEMT transcript variant 3 NM_148173.2:c.210-4250A>T N/A Intron Variant
PEMT transcript variant X1 XM_006721418.4:c.258-4250…

XM_006721418.4:c.258-4250A>T

N/A Intron Variant
PEMT transcript variant X3 XM_017024016.1:c.-14+1070…

XM_017024016.1:c.-14+1070A>T

N/A Intron Variant
PEMT transcript variant X2 XM_024450532.1:c.210-4250…

XM_024450532.1:c.210-4250A>T

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= A G
GRCh38.p13 chr 17 NC_000017.11:g.17516904= NC_000017.11:g.17516904T>A NC_000017.11:g.17516904T>G
GRCh37.p13 chr 17 NC_000017.10:g.17420218= NC_000017.10:g.17420218T>A NC_000017.10:g.17420218T>G
PEMT transcript variant 4 NM_001267551.1:c.255-4250= NM_001267551.1:c.255-4250A>T NM_001267551.1:c.255-4250A>C
PEMT transcript variant 4 NM_001267551.2:c.255-4250= NM_001267551.2:c.255-4250A>T NM_001267551.2:c.255-4250A>C
PEMT transcript variant 5 NM_001267552.1:c.321-4250= NM_001267552.1:c.321-4250A>T NM_001267552.1:c.321-4250A>C
PEMT transcript variant 5 NM_001267552.2:c.321-4250= NM_001267552.2:c.321-4250A>T NM_001267552.2:c.321-4250A>C
PEMT transcript variant 2 NM_007169.2:c.210-4250= NM_007169.2:c.210-4250A>T NM_007169.2:c.210-4250A>C
PEMT transcript variant 2 NM_007169.3:c.210-4250= NM_007169.3:c.210-4250A>T NM_007169.3:c.210-4250A>C
PEMT transcript variant 1 NM_148172.2:c.321-4250= NM_148172.2:c.321-4250A>T NM_148172.2:c.321-4250A>C
PEMT transcript variant 1 NM_148172.3:c.321-4250= NM_148172.3:c.321-4250A>T NM_148172.3:c.321-4250A>C
PEMT transcript variant 3 NM_148173.1:c.210-4250= NM_148173.1:c.210-4250A>T NM_148173.1:c.210-4250A>C
PEMT transcript variant 3 NM_148173.2:c.210-4250= NM_148173.2:c.210-4250A>T NM_148173.2:c.210-4250A>C
PEMT transcript variant X2 XM_005256410.1:c.-14+1070= XM_005256410.1:c.-14+1070A>T XM_005256410.1:c.-14+1070A>C
PEMT transcript variant X1 XM_006721418.4:c.258-4250= XM_006721418.4:c.258-4250A>T XM_006721418.4:c.258-4250A>C
PEMT transcript variant X3 XM_017024016.1:c.-14+1070= XM_017024016.1:c.-14+1070A>T XM_017024016.1:c.-14+1070A>C
PEMT transcript variant X2 XM_024450532.1:c.210-4250= XM_024450532.1:c.210-4250A>T XM_024450532.1:c.210-4250A>C
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

112 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 RIKENSNPRC ss6311493 Feb 20, 2003 (111)
2 WI_SSAHASNP ss6808811 Feb 20, 2003 (111)
3 WI_SSAHASNP ss12407413 Jul 11, 2003 (116)
4 BCM_SSAHASNP ss14293391 Dec 05, 2003 (119)
5 CSHL-HAPMAP ss16755341 Feb 27, 2004 (120)
6 SSAHASNP ss21385652 Apr 05, 2004 (121)
7 PERLEGEN ss24597987 Sep 20, 2004 (123)
8 AFFY ss76426629 Dec 07, 2007 (129)
9 HGSV ss80254911 Dec 15, 2007 (130)
10 HGSV ss84387402 Dec 15, 2007 (130)
11 BCMHGSC_JDW ss90551003 Mar 24, 2008 (129)
12 EGP_SNPS ss95215764 Feb 05, 2009 (130)
13 HUMANGENOME_JCVI ss96538991 Feb 05, 2009 (130)
14 BGI ss103335706 Dec 01, 2009 (131)
15 KRIBB_YJKIM ss104893037 Feb 05, 2009 (130)
16 1000GENOMES ss109685980 Jan 24, 2009 (130)
17 1000GENOMES ss113369313 Jan 25, 2009 (130)
18 ILLUMINA-UK ss118017003 Feb 14, 2009 (130)
19 ENSEMBL ss136610072 Dec 01, 2009 (131)
20 ENSEMBL ss137002599 Dec 01, 2009 (131)
21 ILLUMINA ss154286499 Dec 01, 2009 (131)
22 ILLUMINA ss159463426 Dec 01, 2009 (131)
23 ILLUMINA ss160667546 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss167906407 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss169239311 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss171251449 Jul 04, 2010 (132)
27 ILLUMINA ss173701668 Jul 04, 2010 (132)
28 BUSHMAN ss202306983 Jul 04, 2010 (132)
29 1000GENOMES ss227490694 Jul 14, 2010 (132)
30 1000GENOMES ss237202523 Jul 15, 2010 (132)
31 1000GENOMES ss243510047 Jul 15, 2010 (132)
32 BL ss255530744 May 09, 2011 (134)
33 GMI ss282712864 May 04, 2012 (137)
34 PJP ss292024716 May 09, 2011 (134)
35 ILLUMINA ss480908650 May 04, 2012 (137)
36 ILLUMINA ss480927668 May 04, 2012 (137)
37 ILLUMINA ss481884942 Sep 08, 2015 (146)
38 ILLUMINA ss485249337 May 04, 2012 (137)
39 ILLUMINA ss537221068 Sep 08, 2015 (146)
40 TISHKOFF ss565201330 Apr 25, 2013 (138)
41 SSMP ss660993048 Apr 25, 2013 (138)
42 ILLUMINA ss778904298 Sep 08, 2015 (146)
43 ILLUMINA ss783070617 Sep 08, 2015 (146)
44 ILLUMINA ss784028448 Sep 08, 2015 (146)
45 ILLUMINA ss832328730 Sep 08, 2015 (146)
46 ILLUMINA ss832974925 Jul 13, 2019 (153)
47 ILLUMINA ss834365580 Sep 08, 2015 (146)
48 EVA-GONL ss992977836 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1080973603 Aug 21, 2014 (142)
50 1000GENOMES ss1358110374 Aug 21, 2014 (142)
51 EVA_GENOME_DK ss1578111717 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1635392410 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1678386443 Apr 01, 2015 (144)
54 EVA_SVP ss1713574276 Apr 01, 2015 (144)
55 ILLUMINA ss1752217299 Sep 08, 2015 (146)
56 HAMMER_LAB ss1808729111 Sep 08, 2015 (146)
57 WEILL_CORNELL_DGM ss1936429969 Feb 12, 2016 (147)
58 ILLUMINA ss1946433799 Feb 12, 2016 (147)
59 ILLUMINA ss1959730274 Feb 12, 2016 (147)
60 GENOMED ss1968364771 Jul 19, 2016 (147)
61 JJLAB ss2029001657 Sep 14, 2016 (149)
62 USC_VALOUEV ss2157453251 Dec 20, 2016 (150)
63 HUMAN_LONGEVITY ss2215891893 Dec 20, 2016 (150)
64 TOPMED ss2380786231 Dec 20, 2016 (150)
65 TOPMED ss2380786232 Dec 20, 2016 (150)
66 SYSTEMSBIOZJU ss2628995114 Nov 08, 2017 (151)
67 ILLUMINA ss2633382901 Nov 08, 2017 (151)
68 GRF ss2702001610 Nov 08, 2017 (151)
69 ILLUMINA ss2710845851 Nov 08, 2017 (151)
70 GNOMAD ss2948267718 Nov 08, 2017 (151)
71 SWEGEN ss3015283843 Nov 08, 2017 (151)
72 ILLUMINA ss3021761662 Nov 08, 2017 (151)
73 BIOINF_KMB_FNS_UNIBA ss3028321010 Nov 08, 2017 (151)
74 TOPMED ss3258572408 Nov 08, 2017 (151)
75 TOPMED ss3258572409 Nov 08, 2017 (151)
76 CSHL ss3351677963 Nov 08, 2017 (151)
77 ILLUMINA ss3625706001 Oct 12, 2018 (152)
78 ILLUMINA ss3627639501 Oct 12, 2018 (152)
79 ILLUMINA ss3631364978 Oct 12, 2018 (152)
80 ILLUMINA ss3633137646 Oct 12, 2018 (152)
81 ILLUMINA ss3633844873 Oct 12, 2018 (152)
82 ILLUMINA ss3634668002 Oct 12, 2018 (152)
83 ILLUMINA ss3635532747 Oct 12, 2018 (152)
84 ILLUMINA ss3636358042 Oct 12, 2018 (152)
85 ILLUMINA ss3637284263 Oct 12, 2018 (152)
86 ILLUMINA ss3638152897 Oct 12, 2018 (152)
87 ILLUMINA ss3640375320 Oct 12, 2018 (152)
88 ILLUMINA ss3644683422 Oct 12, 2018 (152)
89 URBANLAB ss3650615789 Oct 12, 2018 (152)
90 ILLUMINA ss3652174953 Oct 12, 2018 (152)
91 EGCUT_WGS ss3682241064 Jul 13, 2019 (153)
92 EVA_DECODE ss3700188046 Jul 13, 2019 (153)
93 ILLUMINA ss3725608294 Jul 13, 2019 (153)
94 ACPOP ss3741919685 Jul 13, 2019 (153)
95 ILLUMINA ss3744148415 Jul 13, 2019 (153)
96 ILLUMINA ss3744968331 Jul 13, 2019 (153)
97 EVA ss3754514280 Jul 13, 2019 (153)
98 PAGE_CC ss3771917583 Jul 13, 2019 (153)
99 ILLUMINA ss3772466317 Jul 13, 2019 (153)
100 PACBIO ss3788164123 Jul 13, 2019 (153)
101 PACBIO ss3793130212 Jul 13, 2019 (153)
102 PACBIO ss3798015888 Jul 13, 2019 (153)
103 KHV_HUMAN_GENOMES ss3819788247 Jul 13, 2019 (153)
104 EVA ss3834807825 Apr 27, 2020 (154)
105 EVA ss3841012911 Apr 27, 2020 (154)
106 EVA ss3846507751 Apr 27, 2020 (154)
107 SGDP_PRJ ss3885453585 Apr 27, 2020 (154)
108 KRGDB ss3935062310 Apr 27, 2020 (154)
109 KOGIC ss3978509559 Apr 27, 2020 (154)
110 EVA ss3984721119 Apr 26, 2021 (155)
111 TOPMED ss5031136680 Apr 26, 2021 (155)
112 TOMMO_GENOMICS ss5221733408 Apr 26, 2021 (155)
113 1000Genomes NC_000017.10 - 17420218 Oct 12, 2018 (152)
114 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 17420218 Oct 12, 2018 (152)
115 Genetic variation in the Estonian population NC_000017.10 - 17420218 Oct 12, 2018 (152)
116 The Danish reference pan genome NC_000017.10 - 17420218 Apr 27, 2020 (154)
117 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 502903042 (NC_000017.11:17516903:T:A 7/139964)
Row 502903043 (NC_000017.11:17516903:T:G 89079/139896)

- Apr 26, 2021 (155)
118 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 502903042 (NC_000017.11:17516903:T:A 7/139964)
Row 502903043 (NC_000017.11:17516903:T:G 89079/139896)

- Apr 26, 2021 (155)
119 Genome of the Netherlands Release 5 NC_000017.10 - 17420218 Apr 27, 2020 (154)
120 HapMap NC_000017.11 - 17516904 Apr 27, 2020 (154)
121 KOREAN population from KRGDB NC_000017.10 - 17420218 Apr 27, 2020 (154)
122 Korean Genome Project NC_000017.11 - 17516904 Apr 27, 2020 (154)
123 Northern Sweden NC_000017.10 - 17420218 Jul 13, 2019 (153)
124 The PAGE Study NC_000017.11 - 17516904 Jul 13, 2019 (153)
125 CNV burdens in cranial meningiomas NC_000017.10 - 17420218 Apr 26, 2021 (155)
126 Qatari NC_000017.10 - 17420218 Apr 27, 2020 (154)
127 SGDP_PRJ NC_000017.10 - 17420218 Apr 27, 2020 (154)
128 Siberian NC_000017.10 - 17420218 Apr 27, 2020 (154)
129 8.3KJPN NC_000017.10 - 17420218 Apr 26, 2021 (155)
130 TopMed NC_000017.11 - 17516904 Apr 26, 2021 (155)
131 UK 10K study - Twins NC_000017.10 - 17420218 Oct 12, 2018 (152)
132 A Vietnamese Genetic Variation Database NC_000017.10 - 17420218 Jul 13, 2019 (153)
133 ALFA NC_000017.11 - 17516904 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)
rs17723573 Oct 08, 2004 (123)
rs58673198 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2380786231, ss2948267718 NC_000017.10:17420217:T:A NC_000017.11:17516903:T:A (self)
14093094529, ss2215891893, ss3258572408 NC_000017.11:17516903:T:A NC_000017.11:17516903:T:A (self)
ss76426629, ss80254911, ss84387402, ss90551003, ss109685980, ss113369313, ss118017003, ss167906407, ss169239311, ss171251449, ss202306983, ss255530744, ss282712864, ss292024716, ss480908650, ss1713574276 NC_000017.9:17360942:T:G NC_000017.11:17516903:T:G (self)
71332498, 39560042, 27979312, 4315729, 17636702, 42239704, 15204550, 270662, 18471891, 37470565, 9969605, 79702715, 39560042, 8763889, ss227490694, ss237202523, ss243510047, ss480927668, ss481884942, ss485249337, ss537221068, ss565201330, ss660993048, ss778904298, ss783070617, ss784028448, ss832328730, ss832974925, ss834365580, ss992977836, ss1080973603, ss1358110374, ss1578111717, ss1635392410, ss1678386443, ss1752217299, ss1808729111, ss1936429969, ss1946433799, ss1959730274, ss1968364771, ss2029001657, ss2157453251, ss2380786232, ss2628995114, ss2633382901, ss2702001610, ss2710845851, ss2948267718, ss3015283843, ss3021761662, ss3351677963, ss3625706001, ss3627639501, ss3631364978, ss3633137646, ss3633844873, ss3634668002, ss3635532747, ss3636358042, ss3637284263, ss3638152897, ss3640375320, ss3644683422, ss3652174953, ss3682241064, ss3741919685, ss3744148415, ss3744968331, ss3754514280, ss3772466317, ss3788164123, ss3793130212, ss3798015888, ss3834807825, ss3841012911, ss3885453585, ss3935062310, ss3984721119, ss5221733408 NC_000017.10:17420217:T:G NC_000017.11:17516903:T:G (self)
1468181, 34887560, 1139052, 153972476, 246682342, 14093094529, ss2215891893, ss3028321010, ss3258572409, ss3650615789, ss3700188046, ss3725608294, ss3771917583, ss3819788247, ss3846507751, ss3978509559, ss5031136680 NC_000017.11:17516903:T:G NC_000017.11:17516903:T:G (self)
ss12407413 NT_010718.13:16259354:T:G NC_000017.11:17516903:T:G (self)
ss14293391, ss16755341, ss21385652 NT_010718.14:16261223:T:G NC_000017.11:17516903:T:G (self)
ss6311493, ss6808811, ss24597987, ss95215764, ss96538991, ss103335706, ss104893037, ss136610072, ss137002599, ss154286499, ss159463426, ss160667546, ss173701668 NT_010718.16:17023591:T:G NC_000017.11:17516903:T:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

3 citations for rs4244593
PMID Title Author Year Journal
17720317 A study of the PEMT gene in schizophrenia. Liu Y et al. 2007 Neuroscience letters
21429654 Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility. Szczepańska M et al. 2011 European journal of obstetrics, gynecology, and reproductive biology
30321787 Importance of polymorphic variants of phosphatidylethanolamine N-methyltransferase (PEMT) gene in the etiology of intrauterine fetal death in the Polish population. Seremak-Mrozikiewicz A et al. 2018 European journal of obstetrics, gynecology, and reproductive biology
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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.post676+237644a