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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 Aliases 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.

rs7946

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr17:17506246 (GRCh38.p12) 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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.41221 (80559/195430, GnomAD_exome)
C=0.42709 (53629/125568, TOPMED)
T=0.4576 (35584/77764, PAGE_STUDY) (+ 9 more)
C=0.3625 (20057/55336, ExAC)
C=0.3988 (12488/31314, GnomAD)
C=0.3845 (4985/12964, GO-ESP)
T=0.425 (2126/5008, 1000G)
C=0.258 (1155/4480, Estonian)
C=0.236 (911/3854, ALSPAC)
C=0.248 (920/3708, TWINSUK)
T=0.13 (77/608, Vietnamese)
C=0.21 (127/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PEMT : Missense Variant
Publications
20 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.p12 chr 17 NC_000017.11:g.17506246C>T
GRCh37.p13 chr 17 NC_000017.10:g.17409560C>T
Gene: PEMT, phosphatidylethanolamine N-methyltransferase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PEMT transcript variant 1 NM_148172.3:c.634G>A V [GTG] > M [ATG] Coding Sequence Variant
phosphatidylethanolamine N-methyltransferase isoform 1 NP_680477.1:p.Val212Met V (Val) > M (Met) Missense Variant
PEMT transcript variant 4 NM_001267551.2:c.568G>A V [GTG] > M [ATG] Coding Sequence Variant
phosphatidylethanolamine N-methyltransferase isoform 4 NP_001254480.1:p.Val190Met V (Val) > M (Met) Missense Variant
PEMT transcript variant 5 NM_001267552.2:c.665G>A S [AGT] > N [AAT] Coding Sequence Variant
phosphatidylethanolamine N-methyltransferase isoform 3 NP_001254481.1:p.Ser222Asn S (Ser) > N (Asn) Missense Variant
PEMT transcript variant 2 NM_007169.3:c.523G>A V [GTG] > M [ATG] Coding Sequence Variant
phosphatidylethanolamine N-methyltransferase isoform 2 NP_009100.2:p.Val175Met V (Val) > M (Met) Missense Variant
PEMT transcript variant 3 NM_148173.2:c.523G>A V [GTG] > M [ATG] Coding Sequence Variant
phosphatidylethanolamine N-methyltransferase isoform 2 NP_680478.1:p.Val175Met V (Val) > M (Met) Missense Variant
PEMT transcript variant X3 XM_017024016.1:c.301G>A V [GTG] > M [ATG] Coding Sequence Variant
phosphatidylethanolamine N-methyltransferase isoform X3 XP_016879505.1:p.Val101Met V (Val) > M (Met) Missense Variant
PEMT transcript variant X1 XM_006721418.4:c.571G>A V [GTG] > M [ATG] Coding Sequence Variant
phosphatidylethanolamine N-methyltransferase isoform X1 XP_006721481.2:p.Val191Met V (Val) > M (Met) Missense Variant
PEMT transcript variant X2 XM_024450532.1:c.523G>A V [GTG] > M [ATG] Coding Sequence Variant
phosphatidylethanolamine N-methyltransferase isoform X2 XP_024306300.1:p.Val175Met V (Val) > M (Met) Missense 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

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
gnomAD - Exomes Global Study-wide 195430 C=0.41221 T=0.58779
gnomAD - Exomes European Sub 99578 C=0.2845 T=0.7155
gnomAD - Exomes Asian Sub 40784 C=0.6400 T=0.3600
gnomAD - Exomes American Sub 29230 C=0.4613 T=0.5387
gnomAD - Exomes African Sub 11826 C=0.6294 T=0.3706
gnomAD - Exomes Ashkenazi Jewish Sub 8984 C=0.371 T=0.629
gnomAD - Exomes Other Sub 5028 C=0.371 T=0.629
TopMed Global Study-wide 125568 C=0.42709 T=0.57291
The PAGE Study Global Study-wide 77764 C=0.5424 T=0.4576
The PAGE Study AfricanAmerican Sub 31978 C=0.6011 T=0.3989
The PAGE Study Mexican Sub 10742 C=0.4384 T=0.5616
The PAGE Study Asian Sub 8266 C=0.741 T=0.259
The PAGE Study PuertoRican Sub 7834 C=0.432 T=0.568
The PAGE Study NativeHawaiian Sub 4478 C=0.556 T=0.444
The PAGE Study Cuban Sub 4186 C=0.371 T=0.629
The PAGE Study Dominican Sub 3784 C=0.466 T=0.534
The PAGE Study CentralAmerican Sub 2434 C=0.493 T=0.507
The PAGE Study SouthAmerican Sub 1958 C=0.416 T=0.584
The PAGE Study NativeAmerican Sub 1252 C=0.364 T=0.636
The PAGE Study SouthAsian Sub 852 C=0.54 T=0.46
ExAC Global Study-wide 55336 C=0.3625 T=0.6375
ExAC Europe Sub 33168 C=0.2670 T=0.7330
ExAC Asian Sub 12646 C=0.5289 T=0.4711
ExAC African Sub 4752 C=0.550 T=0.450
ExAC American Sub 4372 C=0.397 T=0.603
ExAC Other Sub 398 C=0.41 T=0.59
gnomAD - Genomes Global Study-wide 31314 C=0.3988 T=0.6012
gnomAD - Genomes European Sub 18862 C=0.2675 T=0.7325
gnomAD - Genomes African Sub 8678 C=0.614 T=0.386
gnomAD - Genomes East Asian Sub 1554 C=0.828 T=0.172
gnomAD - Genomes Other Sub 1086 C=0.337 T=0.663
gnomAD - Genomes American Sub 844 C=0.42 T=0.58
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.38 T=0.62
GO Exome Sequencing Project Global Study-wide 12964 C=0.3845 T=0.6155
GO Exome Sequencing Project European American Sub 8572 C=0.277 T=0.723
GO Exome Sequencing Project African American Sub 4392 C=0.594 T=0.406
1000Genomes Global Study-wide 5008 C=0.575 T=0.425
1000Genomes African Sub 1322 C=0.678 T=0.322
1000Genomes East Asian Sub 1008 C=0.828 T=0.172
1000Genomes Europe Sub 1006 C=0.296 T=0.704
1000Genomes South Asian Sub 978 C=0.56 T=0.44
1000Genomes American Sub 694 C=0.44 T=0.56
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.258 T=0.742
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.236 T=0.764
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.248 T=0.752
A Vietnamese Genetic Variation Database Global Study-wide 608 C=0.87 T=0.13
Northern Sweden ACPOP Study-wide 600 C=0.21 T=0.79
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 C= T Note
GRCh38.p12 chr 17 NC_000017.11:g.17506246= NC_000017.11:g.17506246C>T
GRCh37.p13 chr 17 NC_000017.10:g.17409560= NC_000017.10:g.17409560C>T
PEMT transcript variant X1 XM_006721418.4:c.571= XM_006721418.4:c.571G>A
PEMT transcript variant 1 NM_148172.3:c.634= NM_148172.3:c.634G>A
PEMT transcript variant 1 NM_148172.2:c.634= NM_148172.2:c.634G>A
PEMT transcript variant 2 NM_007169.2:c.523= NM_007169.2:c.523G>A
PEMT transcript variant 2 NM_007169.3:c.523= NM_007169.3:c.523G>A
PEMT transcript variant 5 NM_001267552.1:c.665= NM_001267552.1:c.665G>A
PEMT transcript variant 5 NM_001267552.2:c.665= NM_001267552.2:c.665G>A
PEMT transcript variant 4 NM_001267551.1:c.568= NM_001267551.1:c.568G>A
PEMT transcript variant 4 NM_001267551.2:c.568= NM_001267551.2:c.568G>A
PEMT transcript variant 3 NM_148173.1:c.523= NM_148173.1:c.523G>A
PEMT transcript variant 3 NM_148173.2:c.523= NM_148173.2:c.523G>A
PEMT transcript variant X2 XM_024450532.1:c.523= XM_024450532.1:c.523G>A
PEMT transcript variant X3 XM_017024016.1:c.301= XM_017024016.1:c.301G>A
phosphatidylethanolamine N-methyltransferase isoform X1 XP_006721481.2:p.Val191= XP_006721481.2:p.Val191Met
phosphatidylethanolamine N-methyltransferase isoform 1 NP_680477.1:p.Val212= NP_680477.1:p.Val212Met
phosphatidylethanolamine N-methyltransferase isoform 2 NP_009100.2:p.Val175= NP_009100.2:p.Val175Met
phosphatidylethanolamine N-methyltransferase isoform 3 NP_001254481.1:p.Ser222= NP_001254481.1:p.Ser222Asn
phosphatidylethanolamine N-methyltransferase isoform 4 NP_001254480.1:p.Val190= NP_001254480.1:p.Val190Met
phosphatidylethanolamine N-methyltransferase isoform 2 NP_680478.1:p.Val175= NP_680478.1:p.Val175Met
phosphatidylethanolamine N-methyltransferase isoform X2 XP_024306300.1:p.Val175= XP_024306300.1:p.Val175Met
phosphatidylethanolamine N-methyltransferase isoform X3 XP_016879505.1:p.Val101= XP_016879505.1:p.Val101Met
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#.

143 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1514911 Oct 13, 2000 (126)
2 TSC-CSHL ss2803970 Jan 12, 2001 (94)
3 LEE ss4407838 May 29, 2002 (126)
4 BCM_SSAHASNP ss14302653 Dec 05, 2003 (119)
5 CGAP-GAI ss16257842 Feb 28, 2004 (126)
6 CSHL-HAPMAP ss16745098 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss19364440 Feb 27, 2004 (120)
8 SSAHASNP ss21430513 Apr 05, 2004 (121)
9 PERLEGEN ss23643161 Sep 20, 2004 (123)
10 ABI ss44008220 Mar 10, 2006 (126)
11 APPLERA_GI ss48426130 Mar 10, 2006 (126)
12 AFFY ss65940965 Nov 29, 2006 (127)
13 ILLUMINA ss66628016 Nov 29, 2006 (127)
14 ILLUMINA ss67851288 Nov 29, 2006 (127)
15 ILLUMINA ss68003936 Nov 29, 2006 (127)
16 CSHL-HAPMAP ss68372721 Jan 12, 2007 (127)
17 ILLUMINA ss70960185 May 23, 2008 (130)
18 ILLUMINA ss71568504 May 16, 2007 (127)
19 ILLUMINA ss75484443 Dec 06, 2007 (129)
20 ILLUMINA ss79275731 Dec 14, 2007 (130)
21 KRIBB_YJKIM ss83348205 Dec 14, 2007 (130)
22 BCMHGSC_JDW ss90550980 Mar 24, 2008 (129)
23 EGP_SNPS ss95215835 Feb 04, 2009 (130)
24 HUMANGENOME_JCVI ss96538979 Feb 04, 2009 (130)
25 BGI ss103335698 Dec 01, 2009 (131)
26 1000GENOMES ss109685931 Jan 24, 2009 (130)
27 ILLUMINA ss120037230 Dec 01, 2009 (131)
28 ILLUMINA ss122868507 Dec 01, 2009 (131)
29 ENSEMBL ss136610104 Dec 01, 2009 (131)
30 ENSEMBL ss137002560 Dec 01, 2009 (131)
31 ILLUMINA ss154458190 Dec 01, 2009 (131)
32 GMI ss157892884 Dec 01, 2009 (131)
33 ILLUMINA ss159632814 Dec 01, 2009 (131)
34 SEATTLESEQ ss159734753 Dec 01, 2009 (131)
35 ILLUMINA ss160931940 Dec 01, 2009 (131)
36 COMPLETE_GENOMICS ss167906232 Jul 04, 2010 (132)
37 COMPLETE_GENOMICS ss171251346 Jul 04, 2010 (132)
38 ILLUMINA ss172372973 Jul 04, 2010 (132)
39 ILLUMINA ss174632667 Jul 04, 2010 (132)
40 BUSHMAN ss202306868 Jul 04, 2010 (132)
41 BCM-HGSC-SUB ss207926207 Jul 04, 2010 (132)
42 1000GENOMES ss217325933 Jul 14, 2010 (132)
43 1000GENOMES ss217404950 Jul 14, 2010 (132)
44 1000GENOMES ss217406627 Jul 14, 2010 (132)
45 1000GENOMES ss217413731 Jul 14, 2010 (132)
46 1000GENOMES ss217425079 Jul 14, 2010 (132)
47 1000GENOMES ss217429685 Jul 14, 2010 (132)
48 1000GENOMES ss217431574 Jul 14, 2010 (132)
49 1000GENOMES ss227490644 Jul 14, 2010 (132)
50 1000GENOMES ss237202500 Jul 15, 2010 (132)
51 1000GENOMES ss243510030 Jul 15, 2010 (132)
52 ILLUMINA ss244311650 Jul 04, 2010 (132)
53 BL ss255530689 May 09, 2011 (134)
54 GMI ss282712849 May 04, 2012 (137)
55 GMI ss287156830 Apr 25, 2013 (138)
56 PJP ss292024705 May 09, 2011 (134)
57 NHLBI-ESP ss342446752 May 09, 2011 (134)
58 ILLUMINA ss481727412 May 04, 2012 (137)
59 ILLUMINA ss481758913 May 04, 2012 (137)
60 ILLUMINA ss482724492 Sep 08, 2015 (146)
61 ILLUMINA ss485658445 May 04, 2012 (137)
62 1000GENOMES ss491118101 May 04, 2012 (137)
63 EXOME_CHIP ss491518356 May 04, 2012 (137)
64 TISHKOFF ss565201275 Apr 25, 2013 (138)
65 SSMP ss660992999 Apr 25, 2013 (138)
66 ILLUMINA ss780725749 Sep 08, 2015 (146)
67 ILLUMINA ss783274785 Sep 08, 2015 (146)
68 ILLUMINA ss783401803 Sep 08, 2015 (146)
69 ILLUMINA ss825606249 Apr 01, 2015 (144)
70 ILLUMINA ss832535856 Sep 08, 2015 (146)
71 ILLUMINA ss833143694 Jul 13, 2019 (153)
72 JMKIDD_LAB ss974497879 Aug 21, 2014 (142)
73 EVA-GONL ss992977769 Aug 21, 2014 (142)
74 JMKIDD_LAB ss1067568860 Aug 21, 2014 (142)
75 JMKIDD_LAB ss1080973553 Aug 21, 2014 (142)
76 1000GENOMES ss1358110058 Aug 21, 2014 (142)
77 DDI ss1427994245 Apr 01, 2015 (144)
78 EVA_UK10K_ALSPAC ss1635392216 Apr 01, 2015 (144)
79 EVA_UK10K_TWINSUK ss1678386249 Apr 01, 2015 (144)
80 EVA_EXAC ss1692640554 Apr 01, 2015 (144)
81 EVA_DECODE ss1697019590 Apr 01, 2015 (144)
82 EVA_MGP ss1711450788 Apr 01, 2015 (144)
83 EVA_SVP ss1713574268 Apr 01, 2015 (144)
84 ILLUMINA ss1752217293 Sep 08, 2015 (146)
85 ILLUMINA ss1752217294 Sep 08, 2015 (146)
86 HAMMER_LAB ss1808729080 Sep 08, 2015 (146)
87 ILLUMINA ss1917915489 Feb 12, 2016 (147)
88 WEILL_CORNELL_DGM ss1936429875 Feb 12, 2016 (147)
89 ILLUMINA ss1946433796 Feb 12, 2016 (147)
90 ILLUMINA ss1959730254 Feb 12, 2016 (147)
91 GENOMED ss1968364761 Jul 19, 2016 (147)
92 JJLAB ss2029001622 Sep 14, 2016 (149)
93 USC_VALOUEV ss2157453216 Dec 20, 2016 (150)
94 HUMAN_LONGEVITY ss2215891122 Dec 20, 2016 (150)
95 TOPMED ss2380785495 Dec 20, 2016 (150)
96 SYSTEMSBIOZJU ss2628995097 Nov 08, 2017 (151)
97 ILLUMINA ss2633382889 Nov 08, 2017 (151)
98 ILLUMINA ss2633382890 Nov 08, 2017 (151)
99 GRF ss2702001575 Nov 08, 2017 (151)
100 ILLUMINA ss2710845847 Nov 08, 2017 (151)
101 GNOMAD ss2742502581 Nov 08, 2017 (151)
102 GNOMAD ss2749707937 Nov 08, 2017 (151)
103 GNOMAD ss2948266798 Nov 08, 2017 (151)
104 AFFY ss2985088368 Nov 08, 2017 (151)
105 AFFY ss2985726484 Nov 08, 2017 (151)
106 SWEGEN ss3015283720 Nov 08, 2017 (151)
107 ILLUMINA ss3021761643 Nov 08, 2017 (151)
108 EVA_SAMSUNG_MC ss3023070352 Nov 08, 2017 (151)
109 BIOINF_KMB_FNS_UNIBA ss3028320997 Nov 08, 2017 (151)
110 TOPMED ss3258570396 Nov 08, 2017 (151)
111 CSHL ss3351677939 Nov 08, 2017 (151)
112 ILLUMINA ss3627639479 Oct 12, 2018 (152)
113 ILLUMINA ss3633844869 Oct 12, 2018 (152)
114 ILLUMINA ss3634667997 Oct 12, 2018 (152)
115 ILLUMINA ss3634667998 Oct 12, 2018 (152)
116 ILLUMINA ss3635532743 Oct 12, 2018 (152)
117 ILLUMINA ss3636358038 Oct 12, 2018 (152)
118 ILLUMINA ss3637284259 Oct 12, 2018 (152)
119 ILLUMINA ss3638152887 Oct 12, 2018 (152)
120 ILLUMINA ss3639087357 Oct 12, 2018 (152)
121 ILLUMINA ss3639550439 Oct 12, 2018 (152)
122 ILLUMINA ss3640375315 Oct 12, 2018 (152)
123 ILLUMINA ss3640375316 Oct 12, 2018 (152)
124 ILLUMINA ss3643131953 Oct 12, 2018 (152)
125 ILLUMINA ss3644683421 Oct 12, 2018 (152)
126 OMUKHERJEE_ADBS ss3646505104 Oct 12, 2018 (152)
127 URBANLAB ss3650615774 Oct 12, 2018 (152)
128 ILLUMINA ss3652174933 Oct 12, 2018 (152)
129 ILLUMINA ss3653860932 Oct 12, 2018 (152)
130 EGCUT_WGS ss3682240937 Jul 13, 2019 (153)
131 EVA_DECODE ss3700187893 Jul 13, 2019 (153)
132 ACPOP ss3741919633 Jul 13, 2019 (153)
133 ILLUMINA ss3744440613 Jul 13, 2019 (153)
134 ILLUMINA ss3744968327 Jul 13, 2019 (153)
135 ILLUMINA ss3744968328 Jul 13, 2019 (153)
136 EVA ss3754514163 Jul 13, 2019 (153)
137 PAGE_CC ss3771917571 Jul 13, 2019 (153)
138 ILLUMINA ss3772466313 Jul 13, 2019 (153)
139 ILLUMINA ss3772466314 Jul 13, 2019 (153)
140 PACBIO ss3788164109 Jul 13, 2019 (153)
141 PACBIO ss3793130200 Jul 13, 2019 (153)
142 PACBIO ss3798015876 Jul 13, 2019 (153)
143 KHV_HUMAN_GENOMES ss3819788159 Jul 13, 2019 (153)
144 1000Genomes NC_000017.10 - 17409560 Oct 12, 2018 (152)
145 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 17409560 Oct 12, 2018 (152)
146 Genetic variation in the Estonian population NC_000017.10 - 17409560 Oct 12, 2018 (152)
147 ExAC NC_000017.10 - 17409560 Oct 12, 2018 (152)
148 gnomAD - Genomes NC_000017.10 - 17409560 Jul 13, 2019 (153)
149 gnomAD - Exomes NC_000017.10 - 17409560 Jul 13, 2019 (153)
150 GO Exome Sequencing Project NC_000017.10 - 17409560 Oct 12, 2018 (152)
151 Northern Sweden NC_000017.10 - 17409560 Jul 13, 2019 (153)
152 The PAGE Study NC_000017.11 - 17506246 Jul 13, 2019 (153)
153 TopMed NC_000017.11 - 17506246 Oct 12, 2018 (152)
154 UK 10K study - Twins NC_000017.10 - 17409560 Oct 12, 2018 (152)
155 A Vietnamese Genetic Variation Database NC_000017.10 - 17409560 Jul 13, 2019 (153)
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)
rs1128207 Mar 10, 2006 (126)
rs1918248 Apr 12, 2001 (94)
rs3184881 Oct 09, 2002 (108)
rs11554364 Mar 10, 2006 (126)
rs57409990 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss90550980, ss109685931, ss167906232, ss171251346, ss202306868, ss207926207, ss217325933, ss217404950, ss217406627, ss217413731, ss217425079, ss217429685, ss217431574, ss255530689, ss282712849, ss287156830, ss292024705, ss481727412, ss825606249, ss1697019590, ss1713574268, ss3639087357, ss3639550439, ss3643131953 NC_000017.9:17350284:C:T NC_000017.11:17506245:C:T (self)
71332174, 39559838, 27979185, 3072622, 194640303, 11804171, 1543661, 15204498, 39559838, 8763857, ss227490644, ss237202500, ss243510030, ss342446752, ss481758913, ss482724492, ss485658445, ss491118101, ss491518356, ss565201275, ss660992999, ss780725749, ss783274785, ss783401803, ss832535856, ss833143694, ss974497879, ss992977769, ss1067568860, ss1080973553, ss1358110058, ss1427994245, ss1635392216, ss1678386249, ss1692640554, ss1711450788, ss1752217293, ss1752217294, ss1808729080, ss1917915489, ss1936429875, ss1946433796, ss1959730254, ss1968364761, ss2029001622, ss2157453216, ss2380785495, ss2628995097, ss2633382889, ss2633382890, ss2702001575, ss2710845847, ss2742502581, ss2749707937, ss2948266798, ss2985088368, ss2985726484, ss3015283720, ss3021761643, ss3023070352, ss3351677939, ss3627639479, ss3633844869, ss3634667997, ss3634667998, ss3635532743, ss3636358038, ss3637284259, ss3638152887, ss3640375315, ss3640375316, ss3644683421, ss3646505104, ss3652174933, ss3653860932, ss3682240937, ss3741919633, ss3744440613, ss3744968327, ss3744968328, ss3754514163, ss3772466313, ss3772466314, ss3788164109, ss3793130200, ss3798015876 NC_000017.10:17409559:C:T NC_000017.11:17506245:C:T (self)
1139040, 153970653, ss2215891122, ss3028320997, ss3258570396, ss3650615774, ss3700187893, ss3771917571, ss3819788159 NC_000017.11:17506245:C:T NC_000017.11:17506245:C:T (self)
ss14302653, ss16745098, ss19364440, ss21430513 NT_010718.14:16250565:C:T NC_000017.11:17506245:C:T (self)
ss1514911, ss2803970, ss4407838, ss16257842, ss23643161, ss44008220, ss48426130, ss65940965, ss66628016, ss67851288, ss68003936, ss68372721, ss70960185, ss71568504, ss75484443, ss79275731, ss83348205, ss95215835, ss96538979, ss103335698, ss120037230, ss122868507, ss136610104, ss137002560, ss154458190, ss157892884, ss159632814, ss159734753, ss160931940, ss172372973, ss174632667, ss244311650 NT_010718.16:17012933:C:T NC_000017.11:17506245:C:T (self)
Help

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

20 citations for rs7946
PMID Title Author Year Journal
16816108 Common genetic polymorphisms affect the human requirement for the nutrient choline. da Costa KA et al. 2006 FASEB journal
17613168 Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline. Zeisel SH et al. 2007 IUBMB life
18230680 Choline metabolism and risk of breast cancer in a population-based study. Xu X et al. 2008 FASEB journal
18789905 Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models. Zeisel SH et al. 2008 Brain research
19167960 Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted. Ivanov A et al. 2009 Journal of the American Dietetic Association
21204206 Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population. Carter TC et al. 2011 American journal of medical genetics. Part A
21857689 Folate and vitamin B12 in idiopathic male infertility. Murphy LE et al. 2011 Asian journal of andrology
21881829 PEMT G523A (V175M) is associated with sporadic Alzheimer's disease in a Chinese population. Bi XH et al. 2012 Journal of molecular neuroscience
22116453 Folate and vitamin B12-related genes and risk for omphalocele. Mills JL et al. 2012 Human genetics
22371529 DNA methylation in peripheral blood measured by LUMA is associated with breast cancer in a population-based study. Xu X et al. 2012 FASEB journal
22856873 Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects. Pangilinan F et al. 2012 BMC medical genetics
23446900 One-carbon metabolism factors and leukocyte telomere length. Liu JJ et al. 2013 The American journal of clinical nutrition
25240073 Maternal choline concentrations during pregnancy and choline-related genetic variants as risk factors for neural tube defects. Mills JL et al. 2014 The American journal of clinical nutrition
26636496 Phosphatidylethanolamine N-methyltransferase gene rs7946 polymorphism plays a role in risk of nonalcoholic fatty liver disease: evidence from meta-analysis. Tan HL et al. 2016 Pharmacogenetics and genomics
27488260 Dietary choline and betaine intake, choline-metabolising genetic polymorphisms and breast cancer risk: a case-control study in China. Du YF et al. 2016 The British journal of nutrition
27610012 Metabolic aspects of adult patients with nonalcoholic fatty liver disease. Abenavoli L et al. 2016 World journal of gastroenterology
28134761 Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations. Ganz AB et al. 2017 International journal of molecular sciences
28596988 NAFLD Susceptibility Genes and their Association with Type 2 Diabetes and Obesity in a New Mexico Population. Garner CJ et al. 2015 Journal of diabetes and obesity
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31199045 Total liver phosphatidylcholine content associates with non-alcoholic steatohepatitis and glycine N-methyltransferase expression. Männistö V et al. 2019 Liver international

Genomic regions, transcripts, and products
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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.
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Software version is: 2.0.1.post308+0fe9b3b