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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.

rs11672433

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr19:8373832 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.09108 (11437/125568, TOPMED)
A=0.0953 (2987/31340, GnomAD)
A=0.1033 (1343/13006, GO-ESP) (+ 5 more)
A=0.056 (278/5008, 1000G)
A=0.134 (601/4480, Estonian)
A=0.157 (606/3854, ALSPAC)
A=0.146 (543/3708, TWINSUK)
A=0.12 (75/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANGPTL4 : Synonymous Variant
Publications
7 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 19 NC_000019.10:g.8373832G>A
GRCh38.p12 chr 19 NC_000019.10:g.8373832G>C
GRCh37.p13 chr 19 NC_000019.9:g.8438716G>A
GRCh37.p13 chr 19 NC_000019.9:g.8438716G>C
ANGPTL4 RefSeqGene NG_012169.1:g.14706G>A
ANGPTL4 RefSeqGene NG_012169.1:g.14706G>C
Gene: ANGPTL4, angiopoietin like 4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ANGPTL4 transcript variant 1 NM_139314.3:c.1167G>A P [CCG] > P [CCA] Coding Sequence Variant
angiopoietin-related protein 4 isoform a precursor NP_647475.1:p.Pro389= P (Pro) > P (Pro) Synonymous Variant
ANGPTL4 transcript variant 1 NM_139314.3:c.1167G>C P [CCG] > P [CCC] Coding Sequence Variant
angiopoietin-related protein 4 isoform a precursor NP_647475.1:p.Pro389= P (Pro) > P (Pro) Synonymous Variant
ANGPTL4 transcript variant 3 NM_001039667.3:c.1053G>A P [CCG] > P [CCA] Coding Sequence Variant
angiopoietin-related protein 4 isoform b precursor NP_001034756.1:p.Pro351= P (Pro) > P (Pro) Synonymous Variant
ANGPTL4 transcript variant 3 NM_001039667.3:c.1053G>C P [CCG] > P [CCC] Coding Sequence Variant
angiopoietin-related protein 4 isoform b precursor NP_001034756.1:p.Pro351= P (Pro) > P (Pro) Synonymous Variant
ANGPTL4 transcript variant 4 NR_104213.2:n. N/A Intron Variant
ANGPTL4 transcript variant X1 XM_005272484.3:c.1221G>A P [CCG] > P [CCA] Coding Sequence Variant
angiopoietin-related protein 4 isoform X1 XP_005272541.1:p.Pro407= P (Pro) > P (Pro) Synonymous Variant
ANGPTL4 transcript variant X1 XM_005272484.3:c.1221G>C P [CCG] > P [CCC] Coding Sequence Variant
angiopoietin-related protein 4 isoform X1 XP_005272541.1:p.Pro407= P (Pro) > P (Pro) Synonymous Variant
ANGPTL4 transcript variant X2 XM_005272485.3:c.1107G>A P [CCG] > P [CCA] Coding Sequence Variant
angiopoietin-related protein 4 isoform X2 XP_005272542.1:p.Pro369= P (Pro) > P (Pro) Synonymous Variant
ANGPTL4 transcript variant X2 XM_005272485.3:c.1107G>C P [CCG] > P [CCC] Coding Sequence Variant
angiopoietin-related protein 4 isoform X2 XP_005272542.1:p.Pro369= P (Pro) > P (Pro) Synonymous 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
TopMed Global Study-wide 125568 G=0.90892 A=0.09108
gnomAD - Genomes Global Study-wide 31340 G=0.9047 A=0.0953
gnomAD - Genomes European Sub 18850 G=0.8653 A=0.1347
gnomAD - Genomes African Sub 8708 G=0.974 A=0.026
gnomAD - Genomes East Asian Sub 1560 G=1.000 A=0.000
gnomAD - Genomes Other Sub 1086 G=0.871 A=0.129
gnomAD - Genomes American Sub 846 G=0.93 A=0.07
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.91 A=0.09
GO Exome Sequencing Project Global Study-wide 13006 G=0.8967 A=0.1033
GO Exome Sequencing Project European American Sub 8600 G=0.858 A=0.142
GO Exome Sequencing Project African American Sub 4406 G=0.972 A=0.028
1000Genomes Global Study-wide 5008 G=0.944 A=0.056
1000Genomes African Sub 1322 G=0.994 A=0.006
1000Genomes East Asian Sub 1008 G=0.999 A=0.001
1000Genomes Europe Sub 1006 G=0.856 A=0.144
1000Genomes South Asian Sub 978 G=0.92 A=0.08
1000Genomes American Sub 694 G=0.93 A=0.07
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.866 A=0.134
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.843 A=0.157
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.854 A=0.146
Northern Sweden ACPOP Study-wide 600 G=0.88 A=0.12
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 G= A C Note
GRCh38.p12 chr 19 NC_000019.10:g.83...

NC_000019.10:g.8373832=

NC_000019.10:g.83...

NC_000019.10:g.8373832G>A

NC_000019.10:g.83...

NC_000019.10:g.8373832G>C

GRCh37.p13 chr 19 NC_000019.9:g.843...

NC_000019.9:g.8438716=

NC_000019.9:g.843...

NC_000019.9:g.8438716G>A

NC_000019.9:g.843...

NC_000019.9:g.8438716G>C

ANGPTL4 RefSeqGene NG_012169.1:g.14706= NG_012169.1:g.147...

NG_012169.1:g.14706G>A

NG_012169.1:g.147...

NG_012169.1:g.14706G>C

ANGPTL4 transcript variant 1 NM_139314.3:c.1167= NM_139314.3:c.116...

NM_139314.3:c.1167G>A

NM_139314.3:c.116...

NM_139314.3:c.1167G>C

ANGPTL4 transcript variant 1 NM_139314.2:c.1167= NM_139314.2:c.116...

NM_139314.2:c.1167G>A

NM_139314.2:c.116...

NM_139314.2:c.1167G>C

ANGPTL4 transcript variant 1 NM_139314.1:c.1167= NM_139314.1:c.116...

NM_139314.1:c.1167G>A

NM_139314.1:c.116...

NM_139314.1:c.1167G>C

ANGPTL4 transcript variant 3 NM_001039667.3:c....

NM_001039667.3:c.1053=

NM_001039667.3:c....

NM_001039667.3:c.1053G>A

NM_001039667.3:c....

NM_001039667.3:c.1053G>C

ANGPTL4 transcript variant 3 NM_001039667.2:c....

NM_001039667.2:c.1053=

NM_001039667.2:c....

NM_001039667.2:c.1053G>A

NM_001039667.2:c....

NM_001039667.2:c.1053G>C

ANGPTL4 transcript variant 3 NM_001039667.1:c....

NM_001039667.1:c.1053=

NM_001039667.1:c....

NM_001039667.1:c.1053G>A

NM_001039667.1:c....

NM_001039667.1:c.1053G>C

ANGPTL4 transcript variant X1 XM_005272484.3:c....

XM_005272484.3:c.1221=

XM_005272484.3:c....

XM_005272484.3:c.1221G>A

XM_005272484.3:c....

XM_005272484.3:c.1221G>C

ANGPTL4 transcript variant X1 XM_005272484.1:c....

XM_005272484.1:c.1221=

XM_005272484.1:c....

XM_005272484.1:c.1221G>A

XM_005272484.1:c....

XM_005272484.1:c.1221G>C

ANGPTL4 transcript variant X2 XM_005272485.3:c....

XM_005272485.3:c.1107=

XM_005272485.3:c....

XM_005272485.3:c.1107G>A

XM_005272485.3:c....

XM_005272485.3:c.1107G>C

ANGPTL4 transcript variant X2 XM_005272485.1:c....

XM_005272485.1:c.1107=

XM_005272485.1:c....

XM_005272485.1:c.1107G>A

XM_005272485.1:c....

XM_005272485.1:c.1107G>C

angiopoietin-related protein 4 isoform a precursor NP_647475.1:p.Pro...

NP_647475.1:p.Pro389=

NP_647475.1:p.Pro...

NP_647475.1:p.Pro389=

NP_647475.1:p.Pro...

NP_647475.1:p.Pro389=

angiopoietin-related protein 4 isoform b precursor NP_001034756.1:p....

NP_001034756.1:p.Pro351=

NP_001034756.1:p....

NP_001034756.1:p.Pro351=

NP_001034756.1:p....

NP_001034756.1:p.Pro351=

angiopoietin-related protein 4 isoform X1 XP_005272541.1:p....

XP_005272541.1:p.Pro407=

XP_005272541.1:p....

XP_005272541.1:p.Pro407=

XP_005272541.1:p....

XP_005272541.1:p.Pro407=

angiopoietin-related protein 4 isoform X2 XP_005272542.1:p....

XP_005272542.1:p.Pro369=

XP_005272542.1:p....

XP_005272542.1:p.Pro369=

XP_005272542.1:p....

XP_005272542.1:p.Pro369=

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#.

85 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss16806171 Feb 28, 2004 (120)
2 MGC_GENOME_DIFF ss28506460 Sep 24, 2004 (126)
3 ABI ss44190019 Mar 11, 2006 (126)
4 APPLERA_GI ss48422118 Mar 11, 2006 (126)
5 ILLUMINA ss66943347 Nov 30, 2006 (127)
6 ILLUMINA ss67104909 Nov 30, 2006 (127)
7 ILLUMINA ss68109761 Dec 12, 2006 (127)
8 PERLEGEN ss69223683 May 17, 2007 (127)
9 ILLUMINA ss70535810 May 26, 2008 (130)
10 ILLUMINA ss71067141 May 17, 2007 (127)
11 ILLUMINA ss74939095 Dec 06, 2007 (129)
12 KRIBB_YJKIM ss85118257 Dec 15, 2007 (130)
13 HUMANGENOME_JCVI ss96289366 Feb 06, 2009 (130)
14 ENSEMBL ss132794673 Dec 01, 2009 (131)
15 ILLUMINA ss153026135 Dec 01, 2009 (131)
16 ILLUMINA ss159182649 Dec 01, 2009 (131)
17 SEATTLESEQ ss159738422 Dec 01, 2009 (131)
18 ILLUMINA ss159992532 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss167773935 Jul 04, 2010 (132)
20 ILLUMINA ss171423375 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss171473829 Jul 04, 2010 (132)
22 1000GENOMES ss237596838 Jul 15, 2010 (132)
23 ILLUMINA ss244273645 Jul 04, 2010 (132)
24 GMI ss287342512 Apr 25, 2013 (138)
25 NHLBI-ESP ss342484137 May 09, 2011 (134)
26 ILLUMINA ss479560388 May 04, 2012 (137)
27 ILLUMINA ss479564644 May 04, 2012 (137)
28 ILLUMINA ss480035886 Sep 08, 2015 (146)
29 ILLUMINA ss484579078 May 04, 2012 (137)
30 1000GENOMES ss491148387 May 04, 2012 (137)
31 CLINSEQ_SNP ss491756878 May 04, 2012 (137)
32 TISHKOFF ss565843765 Apr 25, 2013 (138)
33 SSMP ss661698520 Apr 25, 2013 (138)
34 ILLUMINA ss782736302 Sep 08, 2015 (146)
35 ILLUMINA ss831988142 Sep 08, 2015 (146)
36 ILLUMINA ss832695151 Jul 13, 2019 (153)
37 EVA-GONL ss994070552 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1067583529 Aug 21, 2014 (142)
39 1000GENOMES ss1362286599 Aug 21, 2014 (142)
40 DDI ss1428330866 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1578549112 Apr 01, 2015 (144)
42 EVA_FINRISK ss1584113777 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1637533271 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1680527304 Apr 01, 2015 (144)
45 EVA_EXAC ss1693332235 Apr 01, 2015 (144)
46 EVA_EXAC ss1693332236 Apr 01, 2015 (144)
47 EVA_DECODE ss1698131503 Apr 01, 2015 (144)
48 EVA_MGP ss1711496859 Apr 01, 2015 (144)
49 EVA_SVP ss1713649868 Apr 01, 2015 (144)
50 ILLUMINA ss1752299821 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1937553341 Feb 12, 2016 (147)
52 JJLAB ss2029550681 Sep 14, 2016 (149)
53 USC_VALOUEV ss2158070428 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2224158869 Dec 20, 2016 (150)
55 TOPMED ss2389604359 Dec 20, 2016 (150)
56 ILLUMINA ss2633516157 Nov 08, 2017 (151)
57 GNOMAD ss2743576584 Nov 08, 2017 (151)
58 GNOMAD ss2750053979 Nov 08, 2017 (151)
59 GNOMAD ss2960265631 Nov 08, 2017 (151)
60 SWEGEN ss3017066355 Nov 08, 2017 (151)
61 BIOINF_KMB_FNS_UNIBA ss3028608333 Nov 08, 2017 (151)
62 TOPMED ss3287442896 Nov 08, 2017 (151)
63 CSHL ss3352190592 Nov 08, 2017 (151)
64 ILLUMINA ss3633883720 Oct 12, 2018 (152)
65 ILLUMINA ss3634722424 Oct 12, 2018 (152)
66 ILLUMINA ss3635570719 Oct 12, 2018 (152)
67 ILLUMINA ss3636412117 Oct 12, 2018 (152)
68 ILLUMINA ss3637322411 Oct 12, 2018 (152)
69 ILLUMINA ss3638214823 Oct 12, 2018 (152)
70 ILLUMINA ss3639115517 Oct 12, 2018 (152)
71 ILLUMINA ss3639863820 Oct 12, 2018 (152)
72 ILLUMINA ss3640429732 Oct 12, 2018 (152)
73 ILLUMINA ss3641094114 Oct 12, 2018 (152)
74 ILLUMINA ss3641389741 Oct 12, 2018 (152)
75 ILLUMINA ss3643188960 Oct 12, 2018 (152)
76 ILLUMINA ss3643912793 Oct 12, 2018 (152)
77 OMUKHERJEE_ADBS ss3646529158 Oct 12, 2018 (152)
78 URBANLAB ss3650865018 Oct 12, 2018 (152)
79 EGCUT_WGS ss3683904914 Jul 13, 2019 (153)
80 EVA_DECODE ss3702310414 Jul 13, 2019 (153)
81 ACPOP ss3742839776 Jul 13, 2019 (153)
82 ILLUMINA ss3745022484 Jul 13, 2019 (153)
83 EVA ss3755791621 Jul 13, 2019 (153)
84 ILLUMINA ss3772519834 Jul 13, 2019 (153)
85 KHV_HUMAN_GENOMES ss3821046712 Jul 13, 2019 (153)
86 1000Genomes NC_000019.9 - 8438716 Oct 12, 2018 (152)
87 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 8438716 Oct 12, 2018 (152)
88 Genetic variation in the Estonian population NC_000019.9 - 8438716 Oct 12, 2018 (152)
89 ExAC

Submission ignored due to conflicting rows:
Row 3817209 (NC_000019.9:8438715:G:G 108037/120542, NC_000019.9:8438715:G:A 12505/120542)
Row 3817210 (NC_000019.9:8438715:G:G 120541/120542, NC_000019.9:8438715:G:C 1/120542)

- Oct 12, 2018 (152)
90 ExAC

Submission ignored due to conflicting rows:
Row 3817209 (NC_000019.9:8438715:G:G 108037/120542, NC_000019.9:8438715:G:A 12505/120542)
Row 3817210 (NC_000019.9:8438715:G:G 120541/120542, NC_000019.9:8438715:G:C 1/120542)

- Oct 12, 2018 (152)
91 gnomAD - Genomes NC_000019.9 - 8438716 Jul 13, 2019 (153)
92 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 12888779 (NC_000019.9:8438715:G:G 225408/251108, NC_000019.9:8438715:G:A 25700/251108)
Row 12888780 (NC_000019.9:8438715:G:G 251107/251108, NC_000019.9:8438715:G:C 1/251108)

- Jul 13, 2019 (153)
93 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 12888779 (NC_000019.9:8438715:G:G 225408/251108, NC_000019.9:8438715:G:A 25700/251108)
Row 12888780 (NC_000019.9:8438715:G:G 251107/251108, NC_000019.9:8438715:G:C 1/251108)

- Jul 13, 2019 (153)
94 GO Exome Sequencing Project NC_000019.9 - 8438716 Oct 12, 2018 (152)
95 Northern Sweden NC_000019.9 - 8438716 Jul 13, 2019 (153)
96 TopMed NC_000019.10 - 8373832 Oct 12, 2018 (152)
97 UK 10K study - Twins NC_000019.9 - 8438716 Oct 12, 2018 (152)
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)
rs17852158 Mar 11, 2006 (126)
rs60425162 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss167773935, ss171473829, ss287342512, ss479560388, ss491756878, ss1698131503, ss1713649868, ss3639115517, ss3639863820, ss3643188960, ss3643912793 NC_000019.8:8344715:G:A NC_000019.10:8373831:G:A (self)
75661457, 41925188, 29643162, 206519533, 1689140, 16124641, 41925188, ss237596838, ss342484137, ss479564644, ss480035886, ss484579078, ss491148387, ss565843765, ss661698520, ss782736302, ss831988142, ss832695151, ss994070552, ss1067583529, ss1362286599, ss1428330866, ss1578549112, ss1584113777, ss1637533271, ss1680527304, ss1693332235, ss1711496859, ss1752299821, ss1937553341, ss2029550681, ss2158070428, ss2389604359, ss2633516157, ss2743576584, ss2750053979, ss2960265631, ss3017066355, ss3352190592, ss3633883720, ss3634722424, ss3635570719, ss3636412117, ss3637322411, ss3638214823, ss3640429732, ss3641094114, ss3641389741, ss3646529158, ss3683904914, ss3742839776, ss3745022484, ss3755791621, ss3772519834 NC_000019.9:8438715:G:A NC_000019.10:8373831:G:A (self)
176565605, ss2224158869, ss3028608333, ss3287442896, ss3650865018, ss3702310414, ss3821046712 NC_000019.10:8373831:G:A NC_000019.10:8373831:G:A (self)
ss16806171, ss28506460, ss44190019, ss48422118, ss66943347, ss67104909, ss68109761, ss69223683, ss70535810, ss71067141, ss74939095, ss85118257, ss96289366, ss132794673, ss153026135, ss159182649, ss159738422, ss159992532, ss171423375, ss244273645 NT_077812.2:1042711:G:A NC_000019.10:8373831:G:A (self)
ss1693332236, ss2743576584 NC_000019.9:8438715:G:C NC_000019.10:8373831:G:C (self)
Help

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

7 citations for rs11672433
PMID Title Author Year Journal
18442626 Genetic variation within the ANGPTL4 gene is not associated with metabolic traits in white subjects at an increased risk for type 2 diabetes mellitus. Staiger H et al. 2008 Metabolism
20829508 The relationship between plasma angiopoietin-like protein 4 levels, angiopoietin-like protein 4 genotype, and coronary heart disease risk. Smart-Halajko MC et al. 2010 Arteriosclerosis, thrombosis, and vascular biology
21212665 Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations. Mikhak B et al. 2011 Cerebrovascular diseases (Basel, Switzerland)
26272027 Susceptibility loci for sporadic brain arteriovenous malformation; a replication study and meta-analysis. Kremer PH et al. 2016 Journal of neurology, neurosurgery, and psychiatry
27913276 Association of genetic polymorphisms of angiopoietin-like 4 with severity of posttransplant proteinuria in kidney allograft recipients. Chang Y et al. 2017 Transplant immunology
29221972 Angiopoietin-Like Proteins 4 (ANGPTL4) Gene Polymorphisms and Risk of Brain Arteriovenous Malformation. Erkinova SA et al. 2018 Journal of stroke and cerebrovascular diseases
29932521 Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia. Pawlikowska L et al. 2018 Molecular genetics & genomic medicine

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.post308+0fe9b3b