Name: rs3917
Published: September 21, 2022
License: Open Access

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.

rs3917

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:94431047-94431048 (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: insG / insGCTGTCC / insGT / insGTT…
insG / insGCTGTCC / insGT / insGTTG / insGTTGTCC / insGTTGTGC
Variation Type: Insertion
Frequency: -=0.297457 (78734/264690, TOPMED)
-=0.06426 (1816/28258, 14KJPN)
-=0.06451 (1081/16758, 8.3KJPN) (+ 8 more)
insGTTGTCC=0.4137 (2441/5900, ALFA)
-=0.2121 (1062/5008, 1000G)
-=0.4542 (2035/4480, Estonian)
-=0.4261 (1642/3854, ALSPAC)
-=0.4113 (1525/3708, TWINSUK)
-=0.0748 (137/1832, Korea1K)
-=0.455 (273/600, NorthernSweden)
-=0.45 (18/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: COL1A2 : 3 Prime UTR Variant
Publications: 6 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	5900	=0.5863	GCTGTCC=0.0000, GT=0.0000, GTTGTCC=0.4137, GTTGTGC=0.0000	0.399322	0.22678	0.373898	32
European	Sub	5734	=0.5755	GCTGTCC=0.0000, GT=0.0000, GTTGTCC=0.4245, GTTGTGC=0.0000	0.383328	0.232299	0.384374	32
African	Sub	50	=1.00	GCTGTCC=0.00, GT=0.00, GTTGTCC=0.00, GTTGTGC=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	=0	GCTGTCC=0, GT=0, GTTGTCC=0, GTTGTGC=0	0	0	0	N/A
African American	Sub	50	=1.00	GCTGTCC=0.00, GT=0.00, GTTGTCC=0.00, GTTGTGC=0.00	1.0	0.0	0.0	N/A
Asian	Sub	2	=1.0	GCTGTCC=0.0, GT=0.0, GTTGTCC=0.0, GTTGTGC=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	0	=0	GCTGTCC=0, GT=0, GTTGTCC=0, GTTGTGC=0	0	0	0	N/A
Other Asian	Sub	2	=1.0	GCTGTCC=0.0, GT=0.0, GTTGTCC=0.0, GTTGTGC=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	16	=1.00	GCTGTCC=0.00, GT=0.00, GTTGTCC=0.00, GTTGTGC=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	32	=1.00	GCTGTCC=0.00, GT=0.00, GTTGTCC=0.00, GTTGTGC=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	4	=1.0	GCTGTCC=0.0, GT=0.0, GTTGTCC=0.0, GTTGTGC=0.0	1.0	0.0	0.0	N/A
Other	Sub	62	=0.89	GCTGTCC=0.00, GT=0.00, GTTGTCC=0.11, GTTGTGC=0.00	0.870968	0.096774	0.032258	12

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	- No frequency provided	insGTTGTCC=0.702543
14KJPN	JAPANESE	Study-wide	28258	- No frequency provided	insGTTGTCC=0.93574
8.3KJPN	JAPANESE	Study-wide	16758	- No frequency provided	insGTTGTCC=0.93549
Allele Frequency Aggregator	Total	Global	5900	- No frequency provided	insGCTGTCC=0.0000, insGT=0.0000, insGTTGTCC=0.4137, insGTTGTGC=0.0000
Allele Frequency Aggregator	European	Sub	5734	- No frequency provided	insGCTGTCC=0.0000, insGT=0.0000, insGTTGTCC=0.4245, insGTTGTGC=0.0000
Allele Frequency Aggregator	Other	Sub	62	- No frequency provided	insGCTGTCC=0.00, insGT=0.00, insGTTGTCC=0.11, insGTTGTGC=0.00
Allele Frequency Aggregator	African	Sub	50	- No frequency provided	insGCTGTCC=0.00, insGT=0.00, insGTTGTCC=0.00, insGTTGTGC=0.00
Allele Frequency Aggregator	Latin American 2	Sub	32	- No frequency provided	insGCTGTCC=0.00, insGT=0.00, insGTTGTCC=0.00, insGTTGTGC=0.00
Allele Frequency Aggregator	Latin American 1	Sub	16	- No frequency provided	insGCTGTCC=0.00, insGT=0.00, insGTTGTCC=0.00, insGTTGTGC=0.00
Allele Frequency Aggregator	South Asian	Sub	4	- No frequency provided	insGCTGTCC=0.0, insGT=0.0, insGTTGTCC=0.0, insGTTGTGC=0.0
Allele Frequency Aggregator	Asian	Sub	2	- No frequency provided	insGCTGTCC=0.0, insGT=0.0, insGTTGTCC=0.0, insGTTGTGC=0.0
1000Genomes	Global	Study-wide	5008	- No frequency provided	insGTTGTCC=0.7879
1000Genomes	African	Sub	1322	- No frequency provided	insGTTGTCC=0.9002
1000Genomes	East Asian	Sub	1008	- No frequency provided	insGTTGTCC=0.8641
1000Genomes	Europe	Sub	1006	- No frequency provided	insGTTGTCC=0.5915
1000Genomes	South Asian	Sub	978	- No frequency provided	insGTTGTCC=0.789
1000Genomes	American	Sub	694	- No frequency provided	insGTTGTCC=0.746
Genetic variation in the Estonian population	Estonian	Study-wide	4480	- No frequency provided	insGTTGTCC=0.5458
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	insGTTGTCC=0.5739
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	insGTTGTCC=0.5887
Korean Genome Project	KOREAN	Study-wide	1832	- No frequency provided	insGTTGTCC=0.9252
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	insGTTGTCC=0.545
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	insGTTGTCC=0.55

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 7	NC_000007.14:g.94431047_94431048insG
GRCh38.p14 chr 7	NC_000007.14:g.94431047_94431048insGCTGTCC
GRCh38.p14 chr 7	NC_000007.14:g.94431047_94431048insGT
GRCh38.p14 chr 7	NC_000007.14:g.94431047_94431048insGTTG
GRCh38.p14 chr 7	NC_000007.14:g.94431047_94431048insGTTGTCC
GRCh38.p14 chr 7	NC_000007.14:g.94431047_94431048insGTTGTGC
GRCh37.p13 chr 7	NC_000007.13:g.94060359_94060360insG
GRCh37.p13 chr 7	NC_000007.13:g.94060359_94060360insGCTGTCC
GRCh37.p13 chr 7	NC_000007.13:g.94060359_94060360insGT
GRCh37.p13 chr 7	NC_000007.13:g.94060359_94060360insGTTG
GRCh37.p13 chr 7	NC_000007.13:g.94060359_94060360insGTTGTCC
GRCh37.p13 chr 7	NC_000007.13:g.94060359_94060360insGTTGTGC
COL1A2 RefSeqGene (LRG_2)	NG_007405.1:g.41487_41488insG
COL1A2 RefSeqGene (LRG_2)	NG_007405.1:g.41487_41488insGCTGTCC
COL1A2 RefSeqGene (LRG_2)	NG_007405.1:g.41487_41488insGT
COL1A2 RefSeqGene (LRG_2)	NG_007405.1:g.41487_41488insGTTG
COL1A2 RefSeqGene (LRG_2)	NG_007405.1:g.41487_41488insGTTGTCC
COL1A2 RefSeqGene (LRG_2)	NG_007405.1:g.41487_41488insGTTGTGC

Gene: COL1A2, collagen type I alpha 2 chain (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
COL1A2 transcript	NM_000089.4:c.654_655=	N/A	3 Prime UTR Variant

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.

Allele: insGTTGTCC (allele ID: 303655 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000324325.3	Osteogenesis Imperfecta, Dominant	Benign
RCV000358049.3	Ehlers-Danlos syndrome, arthrochalasis type	Benign
RCV001535048.2	not provided	Benign

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	=	insG	insGCTGTCC	insGT	insGTTG	insGTTGTCC	insGTTGTGC
GRCh38.p14 chr 7	NC_000007.14:g.94431047_94431048=	NC_000007.14:g.94431047_94431048insG	NC_000007.14:g.94431047_94431048insGCTGTCC	NC_000007.14:g.94431047_94431048insGT	NC_000007.14:g.94431047_94431048insGTTG	NC_000007.14:g.94431047_94431048insGTTGTCC	NC_000007.14:g.94431047_94431048insGTTGTGC
GRCh37.p13 chr 7	NC_000007.13:g.94060359_94060360=	NC_000007.13:g.94060359_94060360insG	NC_000007.13:g.94060359_94060360insGCTGTCC	NC_000007.13:g.94060359_94060360insGT	NC_000007.13:g.94060359_94060360insGTTG	NC_000007.13:g.94060359_94060360insGTTGTCC	NC_000007.13:g.94060359_94060360insGTTGTGC
COL1A2 RefSeqGene (LRG_2)	NG_007405.1:g.41487_41488=	NG_007405.1:g.41487_41488insG	NG_007405.1:g.41487_41488insGCTGTCC	NG_007405.1:g.41487_41488insGT	NG_007405.1:g.41487_41488insGTTG	NG_007405.1:g.41487_41488insGTTGTCC	NG_007405.1:g.41487_41488insGTTGTGC
COL1A2 transcript	NM_000089.4:c.654_655=	NM_000089.4:c.654_655insG	NM_000089.4:c.654_655insGCTGTCC	NM_000089.4:c.654_655insGT	NM_000089.4:c.654_655insGTTG	NM_000089.4:c.654_655insGTTGTCC	NM_000089.4:c.654_655insGTTGTGC
COL1A2 transcript	NM_000089.3:c.654_655=	NM_000089.3:c.654_655insG	NM_000089.3:c.654_655insGCTGTCC	NM_000089.3:c.654_655insGT	NM_000089.3:c.654_655insGTTG	NM_000089.3:c.654_655insGTTGTCC	NM_000089.3:c.654_655insGTTGTGC

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#.

62 SubSNP, 16 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	MARSHFIELD	ss3954	Sep 19, 2000 (36)
2	HGSV	ss81931252	Dec 14, 2007 (130)
3	HUMANGENOME_JCVI	ss95468519	Feb 05, 2009 (130)
4	BCMHGSC_JDW	ss103906336	Dec 01, 2009 (131)
5	BUSHMAN	ss193934078	Jul 04, 2010 (132)
6	BL	ss256078663	May 09, 2011 (135)
7	GMI	ss288858888	May 04, 2012 (137)
8	1000GENOMES	ss326964778	May 09, 2011 (135)
9	1000GENOMES	ss327019037	May 09, 2011 (135)
10	1000GENOMES	ss327313346	May 09, 2011 (135)
11	LUNTER	ss551762831	Apr 25, 2013 (138)
12	LUNTER	ss551966641	Apr 25, 2013 (138)
13	LUNTER	ss553308704	Apr 25, 2013 (138)
14	TISHKOFF	ss559258994	Apr 25, 2013 (138)
15	BILGI_BIOE	ss666408391	Apr 25, 2013 (138)
16	1000GENOMES	ss1377388657	Aug 21, 2014 (142)
17	DDI	ss1536555964	Apr 01, 2015 (144)
18	EVA_GENOME_DK	ss1577044329	Apr 01, 2015 (144)
19	EVA_DECODE	ss1594131672	Apr 01, 2015 (144)
20	EVA_UK10K_ALSPAC	ss1705735556	Apr 01, 2015 (144)
21	EVA_UK10K_TWINSUK	ss1705735561	Apr 01, 2015 (144)
22	HAMMER_LAB	ss1805117505	Sep 08, 2015 (146)
23	GENOMED	ss1970763740	Jul 19, 2016 (147)
24	JJLAB	ss2030857056	Sep 14, 2016 (149)
25	SYSTEMSBIOZJU	ss2626787102	Nov 08, 2017 (151)
26	SWEGEN	ss3001649567	Nov 08, 2017 (151)
27	MCHAISSO	ss3064265491	Nov 08, 2017 (151)
28	MCHAISSO	ss3065148309	Nov 08, 2017 (151)
29	MCHAISSO	ss3066157838	Nov 08, 2017 (151)
30	BEROUKHIMLAB	ss3644243923	Oct 12, 2018 (152)
31	URBANLAB	ss3648703718	Oct 12, 2018 (152)
32	EGCUT_WGS	ss3669407107	Jul 13, 2019 (153)
33	ACPOP	ss3734872432	Jul 13, 2019 (153)
34	PACBIO	ss3785895751	Jul 13, 2019 (153)
35	PACBIO	ss3791185850	Jul 13, 2019 (153)
36	PACBIO	ss3796065835	Jul 13, 2019 (153)
37	KHV_HUMAN_GENOMES	ss3810055274	Jul 13, 2019 (153)
38	EVA	ss3830705587	Apr 26, 2020 (154)
39	EVA	ss3838851275	Apr 26, 2020 (154)
40	EVA	ss3844306244	Apr 26, 2020 (154)
41	KOGIC	ss3962114666	Apr 26, 2020 (154)
42	FSA-LAB	ss3984372797	Apr 26, 2021 (155)
43	EVA	ss3986040451	Apr 26, 2021 (155)
44	GNOMAD	ss4168734421	Apr 26, 2021 (155)
45	GNOMAD	ss4168734422	Apr 26, 2021 (155)
46	GNOMAD	ss4168734423	Apr 26, 2021 (155)
47	GNOMAD	ss4168734424	Apr 26, 2021 (155)
48	GNOMAD	ss4168734425	Apr 26, 2021 (155)
49	TOPMED	ss4755312095	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5184495677	Apr 26, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5273905407	Oct 13, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5273905408	Oct 13, 2022 (156)
53	HUGCELL_USP	ss5470889707	Oct 13, 2022 (156)
54	HUGCELL_USP	ss5470889708	Oct 13, 2022 (156)
55	TOMMO_GENOMICS	ss5725154200	Oct 13, 2022 (156)
56	YY_MCH	ss5808895032	Oct 13, 2022 (156)
57	EVA	ss5823207508	Oct 13, 2022 (156)
58	EVA	ss5823207509	Oct 13, 2022 (156)
59	EVA	ss5823207510	Oct 13, 2022 (156)
60	EVA	ss5856008029	Oct 13, 2022 (156)
61	EVA	ss5859945083	Oct 13, 2022 (156)
62	EVA	ss5972698184	Oct 13, 2022 (156)
63	1000Genomes	NC_000007.13 - 94060360	Oct 12, 2018 (152)
64	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 94060360	Oct 12, 2018 (152)
65	Genetic variation in the Estonian population	NC_000007.13 - 94060360	Oct 12, 2018 (152)
66	The Danish reference pan genome	NC_000007.13 - 94060360	Apr 26, 2020 (154)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269582276 (NC_000007.14:94431047::G 2/139424) Row 269582277 (NC_000007.14:94431047::GCTGTCC 64/139424) Row 269582278 (NC_000007.14:94431047::GTTG 2/139424)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269582276 (NC_000007.14:94431047::G 2/139424) Row 269582277 (NC_000007.14:94431047::GCTGTCC 64/139424) Row 269582278 (NC_000007.14:94431047::GTTG 2/139424)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269582276 (NC_000007.14:94431047::G 2/139424) Row 269582277 (NC_000007.14:94431047::GCTGTCC 64/139424) Row 269582278 (NC_000007.14:94431047::GTTG 2/139424)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269582276 (NC_000007.14:94431047::G 2/139424) Row 269582277 (NC_000007.14:94431047::GCTGTCC 64/139424) Row 269582278 (NC_000007.14:94431047::GTTG 2/139424)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269582276 (NC_000007.14:94431047::G 2/139424) Row 269582277 (NC_000007.14:94431047::GCTGTCC 64/139424) Row 269582278 (NC_000007.14:94431047::GTTG 2/139424)...	-	Apr 26, 2021 (155)
72	Korean Genome Project	NC_000007.14 - 94431048	Apr 26, 2020 (154)
73	Northern Sweden	NC_000007.13 - 94060360	Jul 13, 2019 (153)
74	8.3KJPN	NC_000007.13 - 94060360	Apr 26, 2021 (155)
75	14KJPN	NC_000007.14 - 94431048	Oct 13, 2022 (156)
76	TopMed	NC_000007.14 - 94431048	Apr 26, 2021 (155)
77	UK 10K study - Twins	NC_000007.13 - 94060360	Oct 12, 2018 (152)
78	ALFA	NC_000007.14 - 94431048	Apr 26, 2021 (155)
79	ClinVar	RCV000324325.3	Oct 13, 2022 (156)
80	ClinVar	RCV000358049.3	Oct 13, 2022 (156)
81	ClinVar	RCV001535048.2	Oct 13, 2022 (156)

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)
rs10654432	Feb 27, 2004 (120)
rs56907745	May 24, 2008 (130)
rs141163864	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4168734421	NC_000007.14:94431047::G	NC_000007.14:94431047::G	(self)
6449552403, ss4168734422, ss5273905408, ss5470889708	NC_000007.14:94431047::GCTGTCC	NC_000007.14:94431047::GCTGTCC	(self)
ss5823207510	NC_000007.13:94060359::GT	NC_000007.14:94431047::GT
6449552403	NC_000007.14:94431047::GT	NC_000007.14:94431047::GT	(self)
ss5823207509	NC_000007.13:94060359::GTTG	NC_000007.14:94431047::GTTG
ss4168734423	NC_000007.14:94431047::GTTG	NC_000007.14:94431047::GTTG	(self)
ss256078663, ss288858888, ss326964778, ss327019037, ss327313346, ss551762831, ss551966641, ss553308704, ss1594131672	NC_000007.12:93898295::GTTGTCC	NC_000007.14:94431047::GTTGTCC	(self)
38205890, 21260164, 15145355, 1168848, 8157297, 42464984, 21260164, ss559258994, ss666408391, ss1377388657, ss1536555964, ss1577044329, ss1705735556, ss1705735561, ss1805117505, ss1970763740, ss2030857056, ss2626787102, ss3001649567, ss3644243923, ss3669407107, ss3734872432, ss3785895751, ss3791185850, ss3796065835, ss3830705587, ss3838851275, ss3984372797, ss3986040451, ss5184495677, ss5823207508, ss5972698184	NC_000007.13:94060359::GTTGTCC	NC_000007.14:94431047::GTTGTCC	(self)
RCV000324325.3, RCV000358049.3, RCV001535048.2, 18492667, 58991304, 592689654, 6449552403, ss3064265491, ss3065148309, ss3066157838, ss3648703718, ss3810055274, ss3844306244, ss3962114666, ss4168734424, ss4755312095, ss5273905407, ss5470889707, ss5725154200, ss5808895032, ss5856008029, ss5859945083	NC_000007.14:94431047::GTTGTCC	NC_000007.14:94431047::GTTGTCC	(self)
ss3954, ss81931252, ss95468519, ss103906336	NT_007933.15:32093202::GTTGTCC	NC_000007.14:94431047::GTTGTCC	(self)
ss193934078	NT_007933.16:31924268::GTTGTCC	NC_000007.14:94431047::GTTGTCC	(self)
6449552403, ss4168734425	NC_000007.14:94431047::GTTGTGC	NC_000007.14:94431047::GTTGTGC	(self)

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

6 citations for rs3917

PMID	Title	Author	Year	Journal
21359226	The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected.	Pena SD et al.	2011	PloS one
23849651	Analysis of the association between an insertion/deletion polymorphism within the 3' untranslated region of COL1A2 and chronic venous insufficiency.	Jin Y et al.	2013	Annals of vascular surgery
24023486	Epigenetics of hepatocellular carcinoma: role of microRNA.	Khare S et al.	2013	World journal of gastroenterology
28738217	Association between an indel polymorphism in the 3'UTR of COL1A2 and the risk of sudden cardiac death in Chinese populations.	Yin Z et al.	2017	Legal medicine (Tokyo, Japan)
30680358	MicroRNA and Human Bone Health.	Cheng VK et al.	2019	JBMR plus
30825231	Insertion/deletion polymorphism in the 3' untranslated region of COL1A2 disrupts its interaction with microRNA-382 and leads to decreased susceptibility to osteoporotic fracture.	Chen Z et al.	2019	Journal of cellular biochemistry

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3917