Name: rs2071214
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.

rs2071214

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:78223510 (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: G>A / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.053671 (19046/354866, ALFA)
G=0.048015 (12709/264690, TOPMED)
G=0.065886 (16390/248764, GnomAD_exome) (+ 25 more)
G=0.043860 (6153/140288, GnomAD)
G=0.064066 (7775/121360, ExAC)
G=0.06138 (4831/78702, PAGE_STUDY)
G=0.23218 (6561/28258, 14KJPN)
G=0.23085 (3869/16760, 8.3KJPN)
G=0.03414 (444/13006, GO-ESP)
G=0.0682 (437/6404, 1000G_30x)
G=0.0709 (355/5008, 1000G)
G=0.0500 (224/4480, Estonian)
G=0.0573 (221/3854, ALSPAC)
G=0.0609 (226/3708, TWINSUK)
G=0.2263 (663/2930, KOREAN)
G=0.0705 (147/2084, HGDP_Stanford)
G=0.0806 (144/1786, HapMap)
G=0.0697 (77/1104, Daghestan)
G=0.064 (64/998, GoNL)
G=0.225 (178/792, PRJEB37584)
G=0.063 (38/600, NorthernSweden)
G=0.071 (39/552, SGDP_PRJ)
G=0.036 (19/534, MGP)
G=0.092 (28/304, FINRISK)
G=0.069 (15/216, Qatari)
G=0.03 (2/62, Ancient Sardinia)
G=0.05 (3/56, Siberian)
G=0.00 (0/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BIRC5 : Stop Gained
Publications: 8 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	371176	G=0.053048	A=0.946952
European	Sub	315892	G=0.050432	A=0.949568
African	Sub	14260	G=0.01234	A=0.98766
African Others	Sub	522	G=0.006	A=0.994
African American	Sub	13738	G=0.01259	A=0.98741
Asian	Sub	6964	G=0.1977	A=0.8023
East Asian	Sub	4968	G=0.2043	A=0.7957
Other Asian	Sub	1996	G=0.1814	A=0.8186
Latin American 1	Sub	1552	G=0.0367	A=0.9633
Latin American 2	Sub	5298	G=0.0778	A=0.9222
South Asian	Sub	5220	G=0.0485	A=0.9515
Other	Sub	21990	G=0.06749	A=0.93251

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	354866	G=0.053671	A=0.946329
Allele Frequency Aggregator	European	Sub	305832	G=0.050384	A=0.949616
Allele Frequency Aggregator	Other	Sub	20566	G=0.06909	A=0.93091
Allele Frequency Aggregator	African	Sub	9434	G=0.0124	A=0.9876
Allele Frequency Aggregator	Asian	Sub	6964	G=0.1977	A=0.8023
Allele Frequency Aggregator	Latin American 2	Sub	5298	G=0.0778	A=0.9222
Allele Frequency Aggregator	South Asian	Sub	5220	G=0.0485	A=0.9515
Allele Frequency Aggregator	Latin American 1	Sub	1552	G=0.0367	A=0.9633
TopMed	Global	Study-wide	264690	G=0.048015	A=0.951985
gnomAD - Exomes	Global	Study-wide	248764	G=0.065886	A=0.934114
gnomAD - Exomes	European	Sub	134506	G=0.054555	A=0.945445
gnomAD - Exomes	Asian	Sub	48292	G=0.10994	A=0.89006
gnomAD - Exomes	American	Sub	33668	G=0.08319	A=0.91681
gnomAD - Exomes	African	Sub	16214	G=0.00894	A=0.99106
gnomAD - Exomes	Ashkenazi Jewish	Sub	10028	G=0.04787	A=0.95213
gnomAD - Exomes	Other	Sub	6056	G=0.0523	A=0.9477
gnomAD - Genomes	Global	Study-wide	140288	G=0.043860	A=0.956140
gnomAD - Genomes	European	Sub	75960	G=0.05330	A=0.94670
gnomAD - Genomes	African	Sub	42070	G=0.01188	A=0.98812
gnomAD - Genomes	American	Sub	13654	G=0.05215	A=0.94785
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.0409	A=0.9591
gnomAD - Genomes	East Asian	Sub	3128	G=0.2040	A=0.7960
gnomAD - Genomes	Other	Sub	2152	G=0.0548	A=0.9452
ExAC	Global	Study-wide	121360	G=0.064066	A=0.935934
ExAC	Europe	Sub	73332	G=0.05444	A=0.94556
ExAC	Asian	Sub	25140	G=0.10549	A=0.89451
ExAC	American	Sub	11576	G=0.08388	A=0.91612
ExAC	African	Sub	10406	G=0.00971	A=0.99029
ExAC	Other	Sub	906	G=0.065	A=0.935
The PAGE Study	Global	Study-wide	78702	G=0.06138	A=0.93862
The PAGE Study	AfricanAmerican	Sub	32516	G=0.01242	A=0.98758
The PAGE Study	Mexican	Sub	10810	G=0.08594	A=0.91406
The PAGE Study	Asian	Sub	8318	G=0.2376	A=0.7624
The PAGE Study	PuertoRican	Sub	7918	G=0.0520	A=0.9480
The PAGE Study	NativeHawaiian	Sub	4534	G=0.0792	A=0.9208
The PAGE Study	Cuban	Sub	4230	G=0.0418	A=0.9582
The PAGE Study	Dominican	Sub	3828	G=0.0342	A=0.9658
The PAGE Study	CentralAmerican	Sub	2450	G=0.0694	A=0.9306
The PAGE Study	SouthAmerican	Sub	1982	G=0.0732	A=0.9268
The PAGE Study	NativeAmerican	Sub	1260	G=0.0627	A=0.9373
The PAGE Study	SouthAsian	Sub	856	G=0.057	A=0.943
14KJPN	JAPANESE	Study-wide	28258	G=0.23218	A=0.76782
8.3KJPN	JAPANESE	Study-wide	16760	G=0.23085	A=0.76915
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.03414	A=0.96586
GO Exome Sequencing Project	European American	Sub	8600	G=0.0467	A=0.9533
GO Exome Sequencing Project	African American	Sub	4406	G=0.0095	A=0.9905
1000Genomes_30x	Global	Study-wide	6404	G=0.0682	A=0.9318
1000Genomes_30x	African	Sub	1786	G=0.0017	A=0.9983
1000Genomes_30x	Europe	Sub	1266	G=0.0458	A=0.9542
1000Genomes_30x	South Asian	Sub	1202	G=0.0358	A=0.9642
1000Genomes_30x	East Asian	Sub	1170	G=0.2239	A=0.7761
1000Genomes_30x	American	Sub	980	G=0.072	A=0.928
1000Genomes	Global	Study-wide	5008	G=0.0709	A=0.9291
1000Genomes	African	Sub	1322	G=0.0015	A=0.9985
1000Genomes	East Asian	Sub	1008	G=0.2272	A=0.7728
1000Genomes	Europe	Sub	1006	G=0.0467	A=0.9533
1000Genomes	South Asian	Sub	978	G=0.036	A=0.964
1000Genomes	American	Sub	694	G=0.061	A=0.939
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.0500	A=0.9500
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.0573	A=0.9427
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.0609	A=0.9391
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.2263	A=0.7737, C=0.0000, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.0705	A=0.9295
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.160	A=0.840
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.048	A=0.952
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.057	A=0.943
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.025	A=0.975
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.004	A=0.996
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.102	A=0.898
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.01	A=0.99
HapMap	Global	Study-wide	1786	G=0.0806	A=0.9194
HapMap	American	Sub	770	G=0.079	A=0.921
HapMap	African	Sub	586	G=0.009	A=0.991
HapMap	Asian	Sub	254	G=0.280	A=0.720
HapMap	Europe	Sub	176	G=0.040	A=0.960
Genome-wide autozygosity in Daghestan	Global	Study-wide	1104	G=0.0697	A=0.9303
Genome-wide autozygosity in Daghestan	Daghestan	Sub	618	G=0.065	A=0.935
Genome-wide autozygosity in Daghestan	Near_East	Sub	136	G=0.096	A=0.904
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.090	A=0.910
Genome-wide autozygosity in Daghestan	Europe	Sub	102	G=0.029	A=0.971
Genome-wide autozygosity in Daghestan	South Asian	Sub	92	G=0.09	A=0.91
Genome-wide autozygosity in Daghestan	Caucasus	Sub	34	G=0.06	A=0.94
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.064	A=0.936
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.225	A=0.775
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.225	A=0.775
Northern Sweden	ACPOP	Study-wide	600	G=0.063	A=0.937
SGDP_PRJ	Global	Study-wide	552	G=0.071	A=0.929
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.036	A=0.964
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.092	A=0.908
Qatari	Global	Study-wide	216	G=0.069	A=0.931
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	62	G=0.03	A=0.97
Siberian	Global	Study-wide	56	G=0.05	A=0.95
The Danish reference pan genome	Danish	Study-wide	40	G=0.00	A=1.00

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.78223510G>A
GRCh38.p14 chr 17	NC_000017.11:g.78223510G>C
GRCh38.p14 chr 17	NC_000017.11:g.78223510G>T
GRCh37.p13 chr 17	NC_000017.10:g.76219591G>A
GRCh37.p13 chr 17	NC_000017.10:g.76219591G>C
GRCh37.p13 chr 17	NC_000017.10:g.76219591G>T
BIRC5 RefSeqGene	NG_029069.1:g.14315G>A
BIRC5 RefSeqGene	NG_029069.1:g.14315G>C
BIRC5 RefSeqGene	NG_029069.1:g.14315G>T

Gene: BIRC5, baculoviral IAP repeat containing 5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BIRC5 transcript variant 1	NM_001168.3:c.385G>A	E [GAG] > K [AAG]	Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 1	NP_001159.2:p.Glu129Lys	E (Glu) > K (Lys)	Missense Variant
BIRC5 transcript variant 1	NM_001168.3:c.385G>C	E [GAG] > Q [CAG]	Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 1	NP_001159.2:p.Glu129Gln	E (Glu) > Q (Gln)	Missense Variant
BIRC5 transcript variant 1	NM_001168.3:c.385G>T	E [GAG] > * [TAG]	Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 1	NP_001159.2:p.Glu129Ter	E (Glu) > * (Ter)	Stop Gained
BIRC5 transcript variant 3	NM_001012271.2:c.454G>A	E [GAG] > K [AAG]	Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 3	NP_001012271.1:p.Glu152Lys	E (Glu) > K (Lys)	Missense Variant
BIRC5 transcript variant 3	NM_001012271.2:c.454G>C	E [GAG] > Q [CAG]	Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 3	NP_001012271.1:p.Glu152Gln	E (Glu) > Q (Gln)	Missense Variant
BIRC5 transcript variant 3	NM_001012271.2:c.454G>T	E [GAG] > * [TAG]	Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 3	NP_001012271.1:p.Glu152Ter	E (Glu) > * (Ter)	Stop Gained
BIRC5 transcript variant 2	NM_001012270.2:c.267G>A	R [CGG] > R [CGA]	Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 2	NP_001012270.1:p.Arg89=	R (Arg) > R (Arg)	Synonymous Variant
BIRC5 transcript variant 2	NM_001012270.2:c.267G>C	R [CGG] > R [CGC]	Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 2	NP_001012270.1:p.Arg89=	R (Arg) > R (Arg)	Synonymous Variant
BIRC5 transcript variant 2	NM_001012270.2:c.267G>T	R [CGG] > R [CGT]	Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 2	NP_001012270.1:p.Arg89=	R (Arg) > R (Arg)	Synonymous 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.

Not Reported in ClinVar

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	T
GRCh38.p14 chr 17	NC_000017.11:g.78223510=	NC_000017.11:g.78223510G>A	NC_000017.11:g.78223510G>C	NC_000017.11:g.78223510G>T
GRCh37.p13 chr 17	NC_000017.10:g.76219591=	NC_000017.10:g.76219591G>A	NC_000017.10:g.76219591G>C	NC_000017.10:g.76219591G>T
BIRC5 RefSeqGene	NG_029069.1:g.14315=	NG_029069.1:g.14315G>A	NG_029069.1:g.14315G>C	NG_029069.1:g.14315G>T
BIRC5 transcript variant 1	NM_001168.3:c.385=	NM_001168.3:c.385G>A	NM_001168.3:c.385G>C	NM_001168.3:c.385G>T
BIRC5 transcript variant 1	NM_001168.2:c.385=	NM_001168.2:c.385G>A	NM_001168.2:c.385G>C	NM_001168.2:c.385G>T
BIRC5 transcript variant 3	NM_001012271.2:c.454=	NM_001012271.2:c.454G>A	NM_001012271.2:c.454G>C	NM_001012271.2:c.454G>T
BIRC5 transcript variant 3	NM_001012271.1:c.454=	NM_001012271.1:c.454G>A	NM_001012271.1:c.454G>C	NM_001012271.1:c.454G>T
BIRC5 transcript variant 2	NM_001012270.2:c.267=	NM_001012270.2:c.267G>A	NM_001012270.2:c.267G>C	NM_001012270.2:c.267G>T
BIRC5 transcript variant 2	NM_001012270.1:c.267=	NM_001012270.1:c.267G>A	NM_001012270.1:c.267G>C	NM_001012270.1:c.267G>T
EPR1 transcript	NR_002219.1:n.824=	NR_002219.1:n.824C>T	NR_002219.1:n.824C>G	NR_002219.1:n.824C>A
baculoviral IAP repeat-containing protein 5 isoform 1	NP_001159.2:p.Glu129=	NP_001159.2:p.Glu129Lys	NP_001159.2:p.Glu129Gln	NP_001159.2:p.Glu129Ter
baculoviral IAP repeat-containing protein 5 isoform 3	NP_001012271.1:p.Glu152=	NP_001012271.1:p.Glu152Lys	NP_001012271.1:p.Glu152Gln	NP_001012271.1:p.Glu152Ter
baculoviral IAP repeat-containing protein 5 isoform 2	NP_001012270.1:p.Arg89=	NP_001012270.1:p.Arg89=	NP_001012270.1:p.Arg89=	NP_001012270.1:p.Arg89=

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#.

193 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss2984753	Jun 15, 2001 (96)
2	HGBASE	ss3186286	Aug 15, 2001 (98)
3	SC_JCM	ss3754254	Sep 28, 2001 (100)
4	WI_SSAHASNP	ss6609426	Feb 20, 2003 (111)
5	BCM_SSAHASNP	ss14293636	Dec 05, 2003 (119)
6	CGAP-GAI	ss16231202	Feb 27, 2004 (120)
7	SSAHASNP	ss21386921	Apr 05, 2004 (121)
8	PERLEGEN	ss24106544	Sep 20, 2004 (123)
9	MGC_GENOME_DIFF	ss28510269	Sep 24, 2004 (126)
10	MGC_GENOME_DIFF	ss28510562	Sep 24, 2004 (126)
11	MGC_GENOME_DIFF	ss28511307	Sep 24, 2004 (126)
12	EGP_SNPS	ss28532166	Dec 02, 2004 (126)
13	ABI	ss43996110	Mar 10, 2006 (126)
14	APPLERA_GI	ss48424421	Mar 10, 2006 (126)
15	ILLUMINA	ss66610987	Nov 29, 2006 (127)
16	EGP_SNPS	ss66862025	Nov 29, 2006 (127)
17	ILLUMINA	ss67222031	Nov 29, 2006 (127)
18	ILLUMINA	ss67616464	Nov 29, 2006 (127)
19	PERLEGEN	ss69203223	May 16, 2007 (127)
20	ILLUMINA	ss70700318	May 23, 2008 (130)
21	ILLUMINA	ss71266355	May 16, 2007 (127)
22	AFFY	ss74807138	Aug 16, 2007 (128)
23	ILLUMINA	ss75468704	Dec 07, 2007 (129)
24	AFFY	ss76699243	Dec 08, 2007 (130)
25	ILLUMINA	ss79112286	Dec 14, 2007 (130)
26	HGSV	ss80906703	Dec 14, 2007 (130)
27	KRIBB_YJKIM	ss83964464	Dec 14, 2007 (130)
28	CANCER-GENOME	ss86344705	Mar 23, 2008 (129)
29	BCMHGSC_JDW	ss90668520	Mar 24, 2008 (129)
30	HUMANGENOME_JCVI	ss96560478	Feb 02, 2009 (130)
31	BGI	ss106521651	Feb 02, 2009 (130)
32	1000GENOMES	ss109944419	Jan 24, 2009 (130)
33	1000GENOMES	ss113871778	Jan 25, 2009 (130)
34	ILLUMINA-UK	ss118136122	Feb 14, 2009 (130)
35	ILLUMINA	ss121908154	Dec 01, 2009 (131)
36	ENSEMBL	ss136502422	Dec 01, 2009 (131)
37	ENSEMBL	ss137196763	Dec 01, 2009 (131)
38	ILLUMINA	ss153843535	Dec 01, 2009 (131)
39	GMI	ss154673415	Dec 01, 2009 (131)
40	ILLUMINA	ss159355887	Dec 01, 2009 (131)
41	SEATTLESEQ	ss159736514	Dec 01, 2009 (131)
42	ILLUMINA	ss160497808	Dec 01, 2009 (131)
43	COMPLETE_GENOMICS	ss168533664	Jul 04, 2010 (132)
44	COMPLETE_GENOMICS	ss170297643	Jul 04, 2010 (132)
45	ILLUMINA	ss170997276	Jul 04, 2010 (132)
46	COMPLETE_GENOMICS	ss171760457	Jul 04, 2010 (132)
47	ILLUMINA	ss173095821	Jul 04, 2010 (132)
48	BUSHMAN	ss202816133	Jul 04, 2010 (132)
49	BCM-HGSC-SUB	ss207788644	Jul 04, 2010 (132)
50	1000GENOMES	ss227670517	Jul 14, 2010 (132)
51	1000GENOMES	ss237331385	Jul 15, 2010 (132)
52	1000GENOMES	ss243608766	Jul 15, 2010 (132)
53	BL	ss255805270	May 09, 2011 (134)
54	GMI	ss282851886	May 04, 2012 (137)
55	GMI	ss287219828	Apr 25, 2013 (138)
56	PJP	ss291998586	May 09, 2011 (134)
57	NHLBI-ESP	ss342466760	May 09, 2011 (134)
58	ILLUMINA	ss480410149	May 04, 2012 (137)
59	ILLUMINA	ss480423469	May 04, 2012 (137)
60	ILLUMINA	ss481205895	Sep 08, 2015 (146)
61	ILLUMINA	ss485002615	May 04, 2012 (137)
62	1000GENOMES	ss491133454	May 04, 2012 (137)
63	EXOME_CHIP	ss491528845	May 04, 2012 (137)
64	CLINSEQ_SNP	ss491744579	May 04, 2012 (137)
65	ILLUMINA	ss537034036	Sep 08, 2015 (146)
66	TISHKOFF	ss565422869	Apr 25, 2013 (138)
67	SSMP	ss661237641	Apr 25, 2013 (138)
68	ILLUMINA	ss778853157	Sep 08, 2015 (146)
69	ILLUMINA	ss780733140	Sep 08, 2015 (146)
70	ILLUMINA	ss782947610	Sep 08, 2015 (146)
71	ILLUMINA	ss783409703	Sep 08, 2015 (146)
72	ILLUMINA	ss783910027	Sep 08, 2015 (146)
73	ILLUMINA	ss825442804	Apr 01, 2015 (144)
74	ILLUMINA	ss832203473	Sep 08, 2015 (146)
75	ILLUMINA	ss832867796	Jul 13, 2019 (153)
76	ILLUMINA	ss834313835	Sep 08, 2015 (146)
77	JMKIDD_LAB	ss974500625	Aug 21, 2014 (142)
78	EVA-GONL	ss993359903	Aug 21, 2014 (142)
79	JMKIDD_LAB	ss1067575758	Aug 21, 2014 (142)
80	JMKIDD_LAB	ss1081234138	Aug 21, 2014 (142)
81	1000GENOMES	ss1359641937	Aug 21, 2014 (142)
82	HAMMER_LAB	ss1397735827	Sep 08, 2015 (146)
83	DDI	ss1428104700	Apr 01, 2015 (144)
84	EVA_GENOME_DK	ss1578254977	Apr 01, 2015 (144)
85	EVA_FINRISK	ss1584109004	Apr 01, 2015 (144)
86	EVA_UK10K_ALSPAC	ss1636157552	Apr 01, 2015 (144)
87	EVA_UK10K_TWINSUK	ss1679151585	Apr 01, 2015 (144)
88	EVA_EXAC	ss1692997007	Apr 01, 2015 (144)
89	EVA_DECODE	ss1697411581	Apr 01, 2015 (144)
90	EVA_MGP	ss1711474687	Apr 01, 2015 (144)
91	EVA_SVP	ss1713600211	Apr 01, 2015 (144)
92	ILLUMINA	ss1752241937	Sep 08, 2015 (146)
93	ILLUMINA	ss1752241938	Sep 08, 2015 (146)
94	HAMMER_LAB	ss1808892319	Sep 08, 2015 (146)
95	ILLUMINA	ss1917923537	Feb 12, 2016 (147)
96	WEILL_CORNELL_DGM	ss1936824542	Feb 12, 2016 (147)
97	ILLUMINA	ss1946475200	Feb 12, 2016 (147)
98	ILLUMINA	ss1959773231	Feb 12, 2016 (147)
99	GENOMED	ss1968440472	Jul 19, 2016 (147)
100	JJLAB	ss2029184145	Sep 14, 2016 (149)
101	USC_VALOUEV	ss2157671962	Dec 20, 2016 (150)
102	HUMAN_LONGEVITY	ss2218828377	Dec 20, 2016 (150)
103	SYSTEMSBIOZJU	ss2629087352	Nov 08, 2017 (151)
104	ILLUMINA	ss2633428321	Nov 08, 2017 (151)
105	ILLUMINA	ss2635075326	Nov 08, 2017 (151)
106	GRF	ss2702238380	Nov 08, 2017 (151)
107	GNOMAD	ss2743058963	Nov 08, 2017 (151)
108	GNOMAD	ss2749879866	Nov 08, 2017 (151)
109	GNOMAD	ss2952745435	Nov 08, 2017 (151)
110	AFFY	ss2985106731	Nov 08, 2017 (151)
111	SWEGEN	ss3015946497	Nov 08, 2017 (151)
112	ILLUMINA	ss3021808280	Nov 08, 2017 (151)
113	BIOINF_KMB_FNS_UNIBA	ss3028414924	Nov 08, 2017 (151)
114	CSHL	ss3351852451	Nov 08, 2017 (151)
115	ILLUMINA	ss3627729216	Oct 12, 2018 (152)
116	ILLUMINA	ss3627729217	Oct 12, 2018 (152)
117	ILLUMINA	ss3631407484	Oct 12, 2018 (152)
118	ILLUMINA	ss3633149906	Oct 12, 2018 (152)
119	ILLUMINA	ss3633858003	Oct 12, 2018 (152)
120	ILLUMINA	ss3634689088	Oct 12, 2018 (152)
121	ILLUMINA	ss3634689089	Oct 12, 2018 (152)
122	ILLUMINA	ss3635545575	Oct 12, 2018 (152)
123	ILLUMINA	ss3636377885	Oct 12, 2018 (152)
124	ILLUMINA	ss3637297141	Oct 12, 2018 (152)
125	ILLUMINA	ss3638176618	Oct 12, 2018 (152)
126	ILLUMINA	ss3639096368	Oct 12, 2018 (152)
127	ILLUMINA	ss3639555707	Oct 12, 2018 (152)
128	ILLUMINA	ss3640396398	Oct 12, 2018 (152)
129	ILLUMINA	ss3640396399	Oct 12, 2018 (152)
130	ILLUMINA	ss3643153827	Oct 12, 2018 (152)
131	ILLUMINA	ss3644696892	Oct 12, 2018 (152)
132	OMUKHERJEE_ADBS	ss3646517326	Oct 12, 2018 (152)
133	URBANLAB	ss3650707388	Oct 12, 2018 (152)
134	ILLUMINA	ss3652226757	Oct 12, 2018 (152)
135	ILLUMINA	ss3653878888	Oct 12, 2018 (152)
136	EGCUT_WGS	ss3682809659	Jul 13, 2019 (153)
137	EVA_DECODE	ss3700965495	Jul 13, 2019 (153)
138	ILLUMINA	ss3725646300	Jul 13, 2019 (153)
139	ACPOP	ss3742238800	Jul 13, 2019 (153)
140	ILLUMINA	ss3744450102	Jul 13, 2019 (153)
141	ILLUMINA	ss3744989322	Jul 13, 2019 (153)
142	ILLUMINA	ss3744989323	Jul 13, 2019 (153)
143	EVA	ss3754964714	Jul 13, 2019 (153)
144	PAGE_CC	ss3771947961	Jul 13, 2019 (153)
145	ILLUMINA	ss3772486968	Jul 13, 2019 (153)
146	ILLUMINA	ss3772486969	Jul 13, 2019 (153)
147	PACBIO	ss3788275132	Jul 13, 2019 (153)
148	PACBIO	ss3793219557	Jul 13, 2019 (153)
149	PACBIO	ss3798105592	Jul 13, 2019 (153)
150	KHV_HUMAN_GENOMES	ss3820228982	Jul 13, 2019 (153)
151	EVA	ss3825159782	Apr 27, 2020 (154)
152	EVA	ss3825908647	Apr 27, 2020 (154)
153	EVA	ss3834991057	Apr 27, 2020 (154)
154	EVA	ss3841107768	Apr 27, 2020 (154)
155	EVA	ss3846606183	Apr 27, 2020 (154)
156	HGDP	ss3847571630	Apr 27, 2020 (154)
157	SGDP_PRJ	ss3886269592	Apr 27, 2020 (154)
158	KRGDB	ss3936052033	Apr 27, 2020 (154)
159	FSA-LAB	ss3984125150	Apr 27, 2021 (155)
160	EVA	ss3984727243	Apr 27, 2021 (155)
161	EVA	ss3985805073	Apr 27, 2021 (155)
162	EVA	ss3986076193	Apr 27, 2021 (155)
163	EVA	ss3986744506	Apr 27, 2021 (155)
164	EVA	ss4017780027	Apr 27, 2021 (155)
165	TOPMED	ss5044649963	Apr 27, 2021 (155)
166	TOMMO_GENOMICS	ss5223595749	Apr 27, 2021 (155)
167	EVA	ss5236947241	Apr 27, 2021 (155)
168	EVA	ss5237241230	Apr 27, 2021 (155)
169	EVA	ss5237669901	Oct 16, 2022 (156)
170	1000G_HIGH_COVERAGE	ss5304024163	Oct 16, 2022 (156)
171	EVA	ss5315904979	Oct 16, 2022 (156)
172	EVA	ss5429190834	Oct 16, 2022 (156)
173	HUGCELL_USP	ss5496980158	Oct 16, 2022 (156)
174	EVA	ss5511834043	Oct 16, 2022 (156)
175	1000G_HIGH_COVERAGE	ss5608162322	Oct 16, 2022 (156)
176	EVA	ss5623973035	Oct 16, 2022 (156)
177	EVA	ss5624076707	Oct 16, 2022 (156)
178	SANFORD_IMAGENETICS	ss5624404097	Oct 16, 2022 (156)
179	SANFORD_IMAGENETICS	ss5660592539	Oct 16, 2022 (156)
180	TOMMO_GENOMICS	ss5780178330	Oct 16, 2022 (156)
181	EVA	ss5799982673	Oct 16, 2022 (156)
182	EVA	ss5800071599	Oct 16, 2022 (156)
183	EVA	ss5800212090	Oct 16, 2022 (156)
184	YY_MCH	ss5816750652	Oct 16, 2022 (156)
185	EVA	ss5834324381	Oct 16, 2022 (156)
186	EVA	ss5847808983	Oct 16, 2022 (156)
187	EVA	ss5848459939	Oct 16, 2022 (156)
188	EVA	ss5851907115	Oct 16, 2022 (156)
189	EVA	ss5914926430	Oct 16, 2022 (156)
190	EVA	ss5936569213	Oct 16, 2022 (156)
191	EVA	ss5951995758	Oct 16, 2022 (156)
192	EVA	ss5980985920	Oct 16, 2022 (156)
193	EVA	ss5981304166	Oct 16, 2022 (156)
194	1000Genomes	NC_000017.10 - 76219591	Oct 12, 2018 (152)
195	1000Genomes_30x	NC_000017.11 - 78223510	Oct 16, 2022 (156)
196	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 76219591	Oct 12, 2018 (152)
197	Genome-wide autozygosity in Daghestan	NC_000017.9 - 73731186	Apr 27, 2020 (154)
198	Genetic variation in the Estonian population	NC_000017.10 - 76219591	Oct 12, 2018 (152)
199	ExAC	NC_000017.10 - 76219591	Oct 12, 2018 (152)
200	FINRISK	NC_000017.10 - 76219591	Apr 27, 2020 (154)
201	The Danish reference pan genome	NC_000017.10 - 76219591	Apr 27, 2020 (154)
202	gnomAD - Genomes	NC_000017.11 - 78223510	Apr 27, 2021 (155)
203	gnomAD - Exomes	NC_000017.10 - 76219591	Jul 13, 2019 (153)
204	GO Exome Sequencing Project	NC_000017.10 - 76219591	Oct 12, 2018 (152)
205	Genome of the Netherlands Release 5	NC_000017.10 - 76219591	Apr 27, 2020 (154)
206	HGDP-CEPH-db Supplement 1	NC_000017.9 - 73731186	Apr 27, 2020 (154)
207	HapMap	NC_000017.11 - 78223510	Apr 27, 2020 (154)
208	KOREAN population from KRGDB	NC_000017.10 - 76219591	Apr 27, 2020 (154)
209	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 76219591	Apr 27, 2020 (154)
210	Northern Sweden	NC_000017.10 - 76219591	Jul 13, 2019 (153)
211	The PAGE Study	NC_000017.11 - 78223510	Jul 13, 2019 (153)
212	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000017.10 - 76219591	Apr 27, 2021 (155)
213	CNV burdens in cranial meningiomas	NC_000017.10 - 76219591	Apr 27, 2021 (155)
214	Qatari	NC_000017.10 - 76219591	Apr 27, 2020 (154)
215	SGDP_PRJ	NC_000017.10 - 76219591	Apr 27, 2020 (154)
216	Siberian	NC_000017.10 - 76219591	Apr 27, 2020 (154)
217	8.3KJPN	NC_000017.10 - 76219591	Apr 27, 2021 (155)
218	14KJPN	NC_000017.11 - 78223510	Oct 16, 2022 (156)
219	TopMed	NC_000017.11 - 78223510	Apr 27, 2021 (155)
220	UK 10K study - Twins	NC_000017.10 - 76219591	Oct 12, 2018 (152)
221	ALFA	NC_000017.11 - 78223510	Apr 27, 2021 (155)

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)
rs17855967	Mar 10, 2006 (126)
rs17856260	Mar 10, 2006 (126)
rs17857005	Mar 10, 2006 (126)
rs17886532	Mar 10, 2006 (126)
rs52794480	Sep 21, 2007 (128)
rs56618391	May 23, 2008 (130)
rs56703019	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
205643, 249522, ss76699243, ss80906703, ss90668520, ss109944419, ss113871778, ss118136122, ss168533664, ss170297643, ss171760457, ss202816133, ss207788644, ss255805270, ss282851886, ss287219828, ss291998586, ss480410149, ss491744579, ss825442804, ss1397735827, ss1697411581, ss1713600211, ss2635075326, ss3639096368, ss3639555707, ss3643153827, ss3847571630	NC_000017.9:73731185:G:A	NC_000017.11:78223509:G:A	(self)
72922048, 40409463, 28547907, 3456972, 105465, 4453188, 12366620, 1616832, 18001268, 43229427, 590447, 15523665, 1031000, 276791, 18866464, 38286572, 10188316, 81565056, 40409463, ss227670517, ss237331385, ss243608766, ss342466760, ss480423469, ss481205895, ss485002615, ss491133454, ss491528845, ss537034036, ss565422869, ss661237641, ss778853157, ss780733140, ss782947610, ss783409703, ss783910027, ss832203473, ss832867796, ss834313835, ss974500625, ss993359903, ss1067575758, ss1081234138, ss1359641937, ss1428104700, ss1578254977, ss1584109004, ss1636157552, ss1679151585, ss1692997007, ss1711474687, ss1752241937, ss1752241938, ss1808892319, ss1917923537, ss1936824542, ss1946475200, ss1959773231, ss1968440472, ss2029184145, ss2157671962, ss2629087352, ss2633428321, ss2702238380, ss2743058963, ss2749879866, ss2952745435, ss2985106731, ss3015946497, ss3021808280, ss3351852451, ss3627729216, ss3627729217, ss3631407484, ss3633149906, ss3633858003, ss3634689088, ss3634689089, ss3635545575, ss3636377885, ss3637297141, ss3638176618, ss3640396398, ss3640396399, ss3644696892, ss3646517326, ss3652226757, ss3653878888, ss3682809659, ss3742238800, ss3744450102, ss3744989322, ss3744989323, ss3754964714, ss3772486968, ss3772486969, ss3788275132, ss3793219557, ss3798105592, ss3825159782, ss3825908647, ss3834991057, ss3841107768, ss3886269592, ss3936052033, ss3984125150, ss3984727243, ss3985805073, ss3986076193, ss3986744506, ss4017780027, ss5223595749, ss5315904979, ss5429190834, ss5511834043, ss5623973035, ss5624076707, ss5624404097, ss5660592539, ss5799982673, ss5800071599, ss5800212090, ss5834324381, ss5847808983, ss5848459939, ss5936569213, ss5951995758, ss5980985920, ss5981304166	NC_000017.10:76219590:G:A	NC_000017.11:78223509:G:A	(self)
95688257, 514571621, 1531471, 1169430, 114015434, 260195625, 10661184002, ss2218828377, ss3028414924, ss3650707388, ss3700965495, ss3725646300, ss3771947961, ss3820228982, ss3846606183, ss5044649963, ss5236947241, ss5237241230, ss5237669901, ss5304024163, ss5496980158, ss5608162322, ss5780178330, ss5816750652, ss5851907115, ss5914926430	NC_000017.11:78223509:G:A	NC_000017.11:78223509:G:A	(self)
ss14293636, ss21386921	NT_010641.14:10111751:G:A	NC_000017.11:78223509:G:A	(self)
ss2984753, ss3186286, ss3754254, ss6609426, ss16231202, ss24106544, ss28510269, ss28510562, ss28511307, ss28532166, ss43996110, ss48424421, ss66610987, ss66862025, ss67222031, ss67616464, ss69203223, ss70700318, ss71266355, ss74807138, ss75468704, ss79112286, ss83964464, ss86344705, ss96560478, ss106521651, ss121908154, ss136502422, ss137196763, ss153843535, ss154673415, ss159355887, ss159736514, ss160497808, ss170997276, ss173095821	NT_010783.15:41493742:G:A	NC_000017.11:78223509:G:A	(self)
43229427, ss3936052033	NC_000017.10:76219590:G:C	NC_000017.11:78223509:G:C	(self)
43229427, ss3936052033	NC_000017.10:76219590:G:T	NC_000017.11:78223509:G:T	(self)

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

8 citations for rs2071214

PMID	Title	Author	Year	Journal
25586992	Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer.	Kabisch M et al.	2015	Carcinogenesis
27417569	Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases.	Bek S et al.	2016	Alimentary pharmacology & therapeutics
27423588	Association between missense SNP rs2071214 of BIRC5 gene and intracerebral hemorrhage in Korean population.	Park HJ et al.	2016	Journal of the neurological sciences
27446775	Association Between a Polymorphism (rs2071214) in Baculoviral IAP Repeat Containing 5 Gene (BIRC5) and Ischemic Stroke in Korean Population.	Chon J et al.	2016	Annals of rehabilitation medicine
30034311	Survivin polymorphisms and susceptibility to prostate cancer: A genetic association study and an in silico analysis.	Karimian M et al.	2018	EXCLI journal
30747314	Survivin rs9904341 polymorphism significantly increased the risk of cancer: evidence from an updated meta-analysis of case-control studies.	Moazeni-Roodi A et al.	2019	International journal of clinical oncology
31809840	What is the impact of BIRC5 gene polymorphisms on urinary cancer susceptibility? Evidence from 9348 subjects.	Xu M et al.	2020	Gene
35685607	Association of BIRC5 Gene Polymorphism with the Collateral Circulation and Severity of Large Artery Atherosclerotic Stroke.	Huang J et al.	2022	International journal of clinical practice

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2071214