Name: rs4732720
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.

rs4732720

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:27380191 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.490182 (147732/301382, ALFA)
A=0.407057 (107744/264690, TOPMED)
A=0.420482 (58844/139944, GnomAD) (+ 21 more)
A=0.31994 (25179/78700, PAGE_STUDY)
A=0.30314 (8566/28258, 14KJPN)
A=0.30084 (5042/16760, 8.3KJPN)
A=0.3310 (2120/6404, 1000G_30x)
A=0.3323 (1664/5008, 1000G)
G=0.3929 (1760/4480, Estonian)
G=0.4629 (1784/3854, ALSPAC)
G=0.4641 (1721/3708, TWINSUK)
A=0.2089 (612/2930, KOREAN)
A=0.3440 (717/2084, HGDP_Stanford)
A=0.3103 (587/1892, HapMap)
A=0.2156 (395/1832, Korea1K)
G=0.487 (486/998, GoNL)
A=0.197 (156/792, PRJEB37584)
G=0.445 (267/600, NorthernSweden)
G=0.381 (115/302, SGDP_PRJ)
A=0.389 (84/216, Qatari)
A=0.234 (50/214, Vietnamese)
A=0.29 (26/90, Ancient Sardinia)
A=0.45 (18/40, GENOME_DK)
G=0.42 (17/40, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PTK2B : Intron Variant
Publications: 1 citation
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	306418	G=0.491443	A=0.508557, T=0.000000
European	Sub	270678	G=0.471398	A=0.528602, T=0.000000
African	Sub	8838	G=0.7742	A=0.2258, T=0.0000
African Others	Sub	368	G=0.821	A=0.179, T=0.000
African American	Sub	8470	G=0.7721	A=0.2279, T=0.0000
Asian	Sub	3934	G=0.7560	A=0.2440, T=0.0000
East Asian	Sub	3192	G=0.7716	A=0.2284, T=0.0000
Other Asian	Sub	742	G=0.689	A=0.311, T=0.000
Latin American 1	Sub	1126	G=0.5959	A=0.4041, T=0.0000
Latin American 2	Sub	7204	G=0.5763	A=0.4237, T=0.0000
South Asian	Sub	5224	G=0.6198	A=0.3802, T=0.0000
Other	Sub	9414	G=0.5431	A=0.4569, T=0.0000

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	301382	G=0.490182	A=0.509818, T=0.000000
Allele Frequency Aggregator	European	Sub	267584	G=0.471246	A=0.528754, T=0.000000
Allele Frequency Aggregator	Other	Sub	8614	G=0.5403	A=0.4597, T=0.0000
Allele Frequency Aggregator	African	Sub	7696	G=0.7725	A=0.2275, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	7204	G=0.5763	A=0.4237, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5224	G=0.6198	A=0.3802, T=0.0000
Allele Frequency Aggregator	Asian	Sub	3934	G=0.7560	A=0.2440, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1126	G=0.5959	A=0.4041, T=0.0000
TopMed	Global	Study-wide	264690	G=0.592943	A=0.407057
gnomAD - Genomes	Global	Study-wide	139944	G=0.579518	A=0.420482
gnomAD - Genomes	European	Sub	75796	G=0.47503	A=0.52497
gnomAD - Genomes	African	Sub	41916	G=0.76806	A=0.23194
gnomAD - Genomes	American	Sub	13636	G=0.58250	A=0.41750
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	G=0.3963	A=0.6037
gnomAD - Genomes	East Asian	Sub	3126	G=0.7735	A=0.2265
gnomAD - Genomes	Other	Sub	2152	G=0.5692	A=0.4308
The PAGE Study	Global	Study-wide	78700	G=0.68006	A=0.31994
The PAGE Study	AfricanAmerican	Sub	32514	G=0.76382	A=0.23618
The PAGE Study	Mexican	Sub	10810	G=0.55726	A=0.44274
The PAGE Study	Asian	Sub	8318	G=0.7174	A=0.2826
The PAGE Study	PuertoRican	Sub	7918	G=0.5904	A=0.4096
The PAGE Study	NativeHawaiian	Sub	4534	G=0.6782	A=0.3218
The PAGE Study	Cuban	Sub	4230	G=0.5643	A=0.4357
The PAGE Study	Dominican	Sub	3828	G=0.6452	A=0.3548
The PAGE Study	CentralAmerican	Sub	2450	G=0.6633	A=0.3367
The PAGE Study	SouthAmerican	Sub	1982	G=0.6065	A=0.3935
The PAGE Study	NativeAmerican	Sub	1260	G=0.5738	A=0.4262
The PAGE Study	SouthAsian	Sub	856	G=0.629	A=0.371
14KJPN	JAPANESE	Study-wide	28258	G=0.69686	A=0.30314
8.3KJPN	JAPANESE	Study-wide	16760	G=0.69916	A=0.30084
1000Genomes_30x	Global	Study-wide	6404	G=0.6690	A=0.3310
1000Genomes_30x	African	Sub	1786	G=0.7996	A=0.2004
1000Genomes_30x	Europe	Sub	1266	G=0.4961	A=0.5039
1000Genomes_30x	South Asian	Sub	1202	G=0.6331	A=0.3669
1000Genomes_30x	East Asian	Sub	1170	G=0.7632	A=0.2368
1000Genomes_30x	American	Sub	980	G=0.586	A=0.414
1000Genomes	Global	Study-wide	5008	G=0.6677	A=0.3323
1000Genomes	African	Sub	1322	G=0.8003	A=0.1997
1000Genomes	East Asian	Sub	1008	G=0.7599	A=0.2401
1000Genomes	Europe	Sub	1006	G=0.4851	A=0.5149
1000Genomes	South Asian	Sub	978	G=0.635	A=0.365
1000Genomes	American	Sub	694	G=0.592	A=0.408
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.3929	A=0.6071
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.4629	A=0.5371
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.4641	A=0.5359
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7911	A=0.2089
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.6560	A=0.3440
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.804	A=0.196
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.691	A=0.309
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.451	A=0.549
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.472	A=0.528
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.835	A=0.165
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.588	A=0.412
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.90	A=0.10
HapMap	Global	Study-wide	1892	G=0.6897	A=0.3103
HapMap	American	Sub	770	G=0.643	A=0.357
HapMap	African	Sub	692	G=0.782	A=0.218
HapMap	Asian	Sub	254	G=0.748	A=0.252
HapMap	Europe	Sub	176	G=0.449	A=0.551
Korean Genome Project	KOREAN	Study-wide	1832	G=0.7844	A=0.2156
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.487	A=0.513
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.803	A=0.197
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.803	A=0.197
Northern Sweden	ACPOP	Study-wide	600	G=0.445	A=0.555
SGDP_PRJ	Global	Study-wide	302	G=0.381	A=0.619
Qatari	Global	Study-wide	216	G=0.611	A=0.389
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.766	A=0.234
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	90	G=0.71	A=0.29
The Danish reference pan genome	Danish	Study-wide	40	G=0.55	A=0.45
Siberian	Global	Study-wide	40	G=0.42	A=0.57

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 8	NC_000008.11:g.27380191G>A
GRCh38.p14 chr 8	NC_000008.11:g.27380191G>T
GRCh37.p13 chr 8	NC_000008.10:g.27237708G>A
GRCh37.p13 chr 8	NC_000008.10:g.27237708G>T
PTK2B RefSeqGene	NG_029510.2:g.73710G>A
PTK2B RefSeqGene	NG_029510.2:g.73710G>T

Gene: PTK2B, protein tyrosine kinase 2 beta (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PTK2B transcript variant 2	NM_004103.4:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant 1	NM_173174.3:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant 4	NM_173175.2:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant 3	NM_173176.3:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X13	XM_011544441.3:c.-37-1735… XM_011544441.3:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X23	XM_011544442.4:c.-37-1735… XM_011544442.4:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X11	XM_017013214.2:c.-37-1735… XM_017013214.2:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X27	XM_017013215.2:c.-37-1735… XM_017013215.2:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X29	XM_017013216.3:c.-37-1735… XM_017013216.3:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X1	XM_047421531.1:c.-37-1735… XM_047421531.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X2	XM_047421532.1:c.-37-1735… XM_047421532.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X3	XM_047421533.1:c.-37-1735… XM_047421533.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X4	XM_047421534.1:c.-37-1735… XM_047421534.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X5	XM_047421535.1:c.-37-1735… XM_047421535.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X6	XM_047421536.1:c.-37-1735… XM_047421536.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X7	XM_047421537.1:c.-37-1735… XM_047421537.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X8	XM_047421538.1:c.-37-1735… XM_047421538.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X9	XM_047421539.1:c.-37-1735… XM_047421539.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X10	XM_047421540.1:c.-37-1735… XM_047421540.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X16	XM_047421543.1:c.-37-1735… XM_047421543.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X17	XM_047421544.1:c.-37-1735… XM_047421544.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X18	XM_047421545.1:c.-37-1735… XM_047421545.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X19	XM_047421546.1:c.-37-1735… XM_047421546.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X20	XM_047421547.1:c.-37-1735… XM_047421547.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X21	XM_047421548.1:c.-37-1735… XM_047421548.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X22	XM_047421549.1:c.-37-1735… XM_047421549.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X24	XM_047421550.1:c.-37-1735… XM_047421550.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X25	XM_047421551.1:c.-37-1735… XM_047421551.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X26	XM_047421552.1:c.-37-1735… XM_047421552.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X30	XM_047421555.1:c.-37-1735… XM_047421555.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X31	XM_047421556.1:c.-37-1735… XM_047421556.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X32	XM_047421557.1:c.-37-1735… XM_047421557.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X33	XM_047421558.1:c.-37-1735… XM_047421558.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X36	XM_047421561.1:c.-37-1735… XM_047421561.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X38	XM_047421563.1:c.-37-1735… XM_047421563.1:c.-37-17357G>A	N/A	Intron Variant
PTK2B transcript variant X12	XM_005273447.5:c.	N/A	Genic Upstream Transcript Variant
PTK2B transcript variant X14	XM_047421541.1:c.	N/A	Genic Upstream Transcript Variant
PTK2B transcript variant X15	XM_047421542.1:c.	N/A	Genic Upstream Transcript Variant
PTK2B transcript variant X28	XM_047421553.1:c.	N/A	Genic Upstream Transcript Variant
PTK2B transcript variant X34	XM_047421559.1:c.	N/A	Genic Upstream Transcript Variant
PTK2B transcript variant X35	XM_047421560.1:c.	N/A	Genic Upstream Transcript Variant
PTK2B transcript variant X37	XM_047421562.1:c.	N/A	Genic Upstream Transcript Variant
PTK2B transcript variant X39	XM_047421564.1:c.	N/A	Genic Upstream Transcript 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	T
GRCh38.p14 chr 8	NC_000008.11:g.27380191=	NC_000008.11:g.27380191G>A	NC_000008.11:g.27380191G>T
GRCh37.p13 chr 8	NC_000008.10:g.27237708=	NC_000008.10:g.27237708G>A	NC_000008.10:g.27237708G>T
PTK2B RefSeqGene	NG_029510.2:g.73710=	NG_029510.2:g.73710G>A	NG_029510.2:g.73710G>T
PTK2B transcript variant 2	NM_004103.4:c.-37-17357=	NM_004103.4:c.-37-17357G>A	NM_004103.4:c.-37-17357G>T
PTK2B transcript variant 1	NM_173174.2:c.-37-17357=	NM_173174.2:c.-37-17357G>A	NM_173174.2:c.-37-17357G>T
PTK2B transcript variant 1	NM_173174.3:c.-37-17357=	NM_173174.3:c.-37-17357G>A	NM_173174.3:c.-37-17357G>T
PTK2B transcript variant 4	NM_173175.2:c.-37-17357=	NM_173175.2:c.-37-17357G>A	NM_173175.2:c.-37-17357G>T
PTK2B transcript variant 3	NM_173176.2:c.-37-17357=	NM_173176.2:c.-37-17357G>A	NM_173176.2:c.-37-17357G>T
PTK2B transcript variant 3	NM_173176.3:c.-37-17357=	NM_173176.3:c.-37-17357G>A	NM_173176.3:c.-37-17357G>T
PTK2B transcript variant X2	XM_005273448.1:c.-37-17357=	XM_005273448.1:c.-37-17357G>A	XM_005273448.1:c.-37-17357G>T
PTK2B transcript variant X13	XM_011544441.3:c.-37-17357=	XM_011544441.3:c.-37-17357G>A	XM_011544441.3:c.-37-17357G>T
PTK2B transcript variant X23	XM_011544442.4:c.-37-17357=	XM_011544442.4:c.-37-17357G>A	XM_011544442.4:c.-37-17357G>T
PTK2B transcript variant X11	XM_017013214.2:c.-37-17357=	XM_017013214.2:c.-37-17357G>A	XM_017013214.2:c.-37-17357G>T
PTK2B transcript variant X27	XM_017013215.2:c.-37-17357=	XM_017013215.2:c.-37-17357G>A	XM_017013215.2:c.-37-17357G>T
PTK2B transcript variant X29	XM_017013216.3:c.-37-17357=	XM_017013216.3:c.-37-17357G>A	XM_017013216.3:c.-37-17357G>T
PTK2B transcript variant X1	XM_047421531.1:c.-37-17357=	XM_047421531.1:c.-37-17357G>A	XM_047421531.1:c.-37-17357G>T
PTK2B transcript variant X2	XM_047421532.1:c.-37-17357=	XM_047421532.1:c.-37-17357G>A	XM_047421532.1:c.-37-17357G>T
PTK2B transcript variant X3	XM_047421533.1:c.-37-17357=	XM_047421533.1:c.-37-17357G>A	XM_047421533.1:c.-37-17357G>T
PTK2B transcript variant X4	XM_047421534.1:c.-37-17357=	XM_047421534.1:c.-37-17357G>A	XM_047421534.1:c.-37-17357G>T
PTK2B transcript variant X5	XM_047421535.1:c.-37-17357=	XM_047421535.1:c.-37-17357G>A	XM_047421535.1:c.-37-17357G>T
PTK2B transcript variant X6	XM_047421536.1:c.-37-17357=	XM_047421536.1:c.-37-17357G>A	XM_047421536.1:c.-37-17357G>T
PTK2B transcript variant X7	XM_047421537.1:c.-37-17357=	XM_047421537.1:c.-37-17357G>A	XM_047421537.1:c.-37-17357G>T
PTK2B transcript variant X8	XM_047421538.1:c.-37-17357=	XM_047421538.1:c.-37-17357G>A	XM_047421538.1:c.-37-17357G>T
PTK2B transcript variant X9	XM_047421539.1:c.-37-17357=	XM_047421539.1:c.-37-17357G>A	XM_047421539.1:c.-37-17357G>T
PTK2B transcript variant X10	XM_047421540.1:c.-37-17357=	XM_047421540.1:c.-37-17357G>A	XM_047421540.1:c.-37-17357G>T
PTK2B transcript variant X16	XM_047421543.1:c.-37-17357=	XM_047421543.1:c.-37-17357G>A	XM_047421543.1:c.-37-17357G>T
PTK2B transcript variant X17	XM_047421544.1:c.-37-17357=	XM_047421544.1:c.-37-17357G>A	XM_047421544.1:c.-37-17357G>T
PTK2B transcript variant X18	XM_047421545.1:c.-37-17357=	XM_047421545.1:c.-37-17357G>A	XM_047421545.1:c.-37-17357G>T
PTK2B transcript variant X19	XM_047421546.1:c.-37-17357=	XM_047421546.1:c.-37-17357G>A	XM_047421546.1:c.-37-17357G>T
PTK2B transcript variant X20	XM_047421547.1:c.-37-17357=	XM_047421547.1:c.-37-17357G>A	XM_047421547.1:c.-37-17357G>T
PTK2B transcript variant X21	XM_047421548.1:c.-37-17357=	XM_047421548.1:c.-37-17357G>A	XM_047421548.1:c.-37-17357G>T
PTK2B transcript variant X22	XM_047421549.1:c.-37-17357=	XM_047421549.1:c.-37-17357G>A	XM_047421549.1:c.-37-17357G>T
PTK2B transcript variant X24	XM_047421550.1:c.-37-17357=	XM_047421550.1:c.-37-17357G>A	XM_047421550.1:c.-37-17357G>T
PTK2B transcript variant X25	XM_047421551.1:c.-37-17357=	XM_047421551.1:c.-37-17357G>A	XM_047421551.1:c.-37-17357G>T
PTK2B transcript variant X26	XM_047421552.1:c.-37-17357=	XM_047421552.1:c.-37-17357G>A	XM_047421552.1:c.-37-17357G>T
PTK2B transcript variant X30	XM_047421555.1:c.-37-17357=	XM_047421555.1:c.-37-17357G>A	XM_047421555.1:c.-37-17357G>T
PTK2B transcript variant X31	XM_047421556.1:c.-37-17357=	XM_047421556.1:c.-37-17357G>A	XM_047421556.1:c.-37-17357G>T
PTK2B transcript variant X32	XM_047421557.1:c.-37-17357=	XM_047421557.1:c.-37-17357G>A	XM_047421557.1:c.-37-17357G>T
PTK2B transcript variant X33	XM_047421558.1:c.-37-17357=	XM_047421558.1:c.-37-17357G>A	XM_047421558.1:c.-37-17357G>T
PTK2B transcript variant X36	XM_047421561.1:c.-37-17357=	XM_047421561.1:c.-37-17357G>A	XM_047421561.1:c.-37-17357G>T
PTK2B transcript variant X38	XM_047421563.1:c.-37-17357=	XM_047421563.1:c.-37-17357G>A	XM_047421563.1:c.-37-17357G>T

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#.

127 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6523583	Feb 20, 2003 (111)
2	WI_SSAHASNP	ss14352356	Dec 05, 2003 (119)
3	PERLEGEN	ss24716951	Sep 20, 2004 (123)
4	ABI	ss44860375	Mar 14, 2006 (126)
5	ILLUMINA	ss66619461	Nov 30, 2006 (127)
6	ILLUMINA	ss67366659	Nov 30, 2006 (127)
7	ILLUMINA	ss67751096	Nov 30, 2006 (127)
8	ILLUMINA	ss70819939	May 24, 2008 (130)
9	ILLUMINA	ss71401305	May 17, 2007 (127)
10	ILLUMINA	ss75479262	Dec 06, 2007 (129)
11	ILLUMINA	ss79192160	Dec 14, 2007 (130)
12	KRIBB_YJKIM	ss84333021	Dec 14, 2007 (130)
13	HGSV	ss85468112	Dec 14, 2007 (130)
14	HUMANGENOME_JCVI	ss98061112	Feb 04, 2009 (130)
15	1000GENOMES	ss112938126	Jan 25, 2009 (130)
16	1000GENOMES	ss115182881	Jan 25, 2009 (130)
17	ILLUMINA	ss122369400	Dec 01, 2009 (131)
18	ILLUMINA	ss154311940	Dec 01, 2009 (131)
19	ILLUMINA	ss159488623	Dec 01, 2009 (131)
20	ILLUMINA	ss160704159	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss162272153	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss164260197	Jul 04, 2010 (132)
23	COMPLETE_GENOMICS	ss166440933	Jul 04, 2010 (132)
24	ILLUMINA	ss171886868	Jul 04, 2010 (132)
25	ILLUMINA	ss173793758	Jul 04, 2010 (132)
26	BUSHMAN	ss198960719	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss208675764	Jul 04, 2010 (132)
28	1000GENOMES	ss223619088	Jul 14, 2010 (132)
29	1000GENOMES	ss234377238	Jul 15, 2010 (132)
30	1000GENOMES	ss241246531	Jul 15, 2010 (132)
31	BL	ss254215803	May 09, 2011 (134)
32	GMI	ss279746862	May 04, 2012 (137)
33	GMI	ss285818311	Apr 25, 2013 (138)
34	PJP	ss294245784	May 09, 2011 (134)
35	ILLUMINA	ss481022867	May 04, 2012 (137)
36	ILLUMINA	ss481043916	May 04, 2012 (137)
37	ILLUMINA	ss482030960	Sep 08, 2015 (146)
38	ILLUMINA	ss485306452	May 04, 2012 (137)
39	ILLUMINA	ss537265420	Sep 08, 2015 (146)
40	TISHKOFF	ss560640779	Apr 25, 2013 (138)
41	SSMP	ss655075588	Apr 25, 2013 (138)
42	ILLUMINA	ss778916576	Sep 08, 2015 (146)
43	ILLUMINA	ss783099050	Sep 08, 2015 (146)
44	ILLUMINA	ss784056325	Sep 08, 2015 (146)
45	ILLUMINA	ss825522678	Apr 01, 2015 (144)
46	ILLUMINA	ss832357605	Sep 08, 2015 (146)
47	ILLUMINA	ss833000029	Jul 13, 2019 (153)
48	ILLUMINA	ss834377971	Sep 08, 2015 (146)
49	EVA-GONL	ss985335746	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1075387078	Aug 21, 2014 (142)
51	1000GENOMES	ss1329150372	Aug 21, 2014 (142)
52	DDI	ss1431461217	Apr 01, 2015 (144)
53	EVA_GENOME_DK	ss1582619017	Apr 01, 2015 (144)
54	EVA_DECODE	ss1594928355	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1620262558	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1663256591	Apr 01, 2015 (144)
57	EVA_SVP	ss1713026025	Apr 01, 2015 (144)
58	ILLUMINA	ss1752726974	Sep 08, 2015 (146)
59	HAMMER_LAB	ss1805461210	Sep 08, 2015 (146)
60	WEILL_CORNELL_DGM	ss1928624489	Feb 12, 2016 (147)
61	ILLUMINA	ss1946233249	Feb 12, 2016 (147)
62	ILLUMINA	ss1959099640	Feb 12, 2016 (147)
63	GENOMED	ss1970944805	Jul 19, 2016 (147)
64	JJLAB	ss2025014838	Sep 14, 2016 (149)
65	USC_VALOUEV	ss2153236563	Dec 20, 2016 (150)
66	HUMAN_LONGEVITY	ss2301778486	Dec 20, 2016 (150)
67	ILLUMINA	ss2634729233	Nov 08, 2017 (151)
68	ILLUMINA	ss2635181949	Nov 08, 2017 (151)
69	GRF	ss2708998485	Nov 08, 2017 (151)
70	ILLUMINA	ss2711134365	Nov 08, 2017 (151)
71	GNOMAD	ss2864747324	Nov 08, 2017 (151)
72	SWEGEN	ss3002898177	Nov 08, 2017 (151)
73	ILLUMINA	ss3022832345	Nov 08, 2017 (151)
74	CSHL	ss3348108886	Nov 08, 2017 (151)
75	ILLUMINA	ss3625948542	Oct 12, 2018 (152)
76	ILLUMINA	ss3630028145	Oct 12, 2018 (152)
77	ILLUMINA	ss3632629316	Oct 12, 2018 (152)
78	ILLUMINA	ss3634222682	Oct 12, 2018 (152)
79	ILLUMINA	ss3635165436	Oct 12, 2018 (152)
80	ILLUMINA	ss3635901581	Oct 12, 2018 (152)
81	ILLUMINA	ss3636902668	Oct 12, 2018 (152)
82	ILLUMINA	ss3637654735	Oct 12, 2018 (152)
83	ILLUMINA	ss3638751924	Oct 12, 2018 (152)
84	ILLUMINA	ss3639378724	Oct 12, 2018 (152)
85	ILLUMINA	ss3639718288	Oct 12, 2018 (152)
86	ILLUMINA	ss3640872726	Oct 12, 2018 (152)
87	ILLUMINA	ss3643683447	Oct 12, 2018 (152)
88	ILLUMINA	ss3644966435	Oct 12, 2018 (152)
89	BIOINF_KMB_FNS_UNIBA	ss3646086432	Oct 12, 2018 (152)
90	URBANLAB	ss3648881487	Oct 12, 2018 (152)
91	ILLUMINA	ss3653373586	Oct 12, 2018 (152)
92	EGCUT_WGS	ss3670582312	Jul 13, 2019 (153)
93	EVA_DECODE	ss3721676011	Jul 13, 2019 (153)
94	ILLUMINA	ss3726525950	Jul 13, 2019 (153)
95	ACPOP	ss3735519551	Jul 13, 2019 (153)
96	ILLUMINA	ss3744303807	Jul 13, 2019 (153)
97	ILLUMINA	ss3745465237	Jul 13, 2019 (153)
98	EVA	ss3767792575	Jul 13, 2019 (153)
99	PAGE_CC	ss3771433164	Jul 13, 2019 (153)
100	ILLUMINA	ss3772957770	Jul 13, 2019 (153)
101	KHV_HUMAN_GENOMES	ss3810953981	Jul 13, 2019 (153)
102	EVA	ss3831085628	Apr 26, 2020 (154)
103	EVA	ss3839052243	Apr 26, 2020 (154)
104	EVA	ss3844510527	Apr 26, 2020 (154)
105	HGDP	ss3847909175	Apr 26, 2020 (154)
106	SGDP_PRJ	ss3869561437	Apr 26, 2020 (154)
107	KRGDB	ss3916996786	Apr 26, 2020 (154)
108	KOGIC	ss3963521923	Apr 26, 2020 (154)
109	EVA	ss3984603309	Apr 26, 2021 (155)
110	EVA	ss3985351391	Apr 26, 2021 (155)
111	TOPMED	ss4780068468	Apr 26, 2021 (155)
112	TOMMO_GENOMICS	ss5187914719	Apr 26, 2021 (155)
113	1000G_HIGH_COVERAGE	ss5276535860	Oct 16, 2022 (156)
114	EVA	ss5315322307	Oct 16, 2022 (156)
115	EVA	ss5380022163	Oct 16, 2022 (156)
116	HUGCELL_USP	ss5473167128	Oct 16, 2022 (156)
117	EVA	ss5509295414	Oct 16, 2022 (156)
118	1000G_HIGH_COVERAGE	ss5566560765	Oct 16, 2022 (156)
119	SANFORD_IMAGENETICS	ss5645041630	Oct 16, 2022 (156)
120	TOMMO_GENOMICS	ss5729607532	Oct 16, 2022 (156)
121	EVA	ss5799752339	Oct 16, 2022 (156)
122	YY_MCH	ss5809567187	Oct 16, 2022 (156)
123	EVA	ss5830305154	Oct 16, 2022 (156)
124	EVA	ss5848171894	Oct 16, 2022 (156)
125	EVA	ss5856312623	Oct 16, 2022 (156)
126	EVA	ss5888261351	Oct 16, 2022 (156)
127	EVA	ss5974228305	Oct 16, 2022 (156)
128	1000Genomes	NC_000008.10 - 27237708	Oct 12, 2018 (152)
129	1000Genomes_30x	NC_000008.11 - 27380191	Oct 16, 2022 (156)
130	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 27237708	Oct 12, 2018 (152)
131	Genetic variation in the Estonian population	NC_000008.10 - 27237708	Oct 12, 2018 (152)
132	The Danish reference pan genome	NC_000008.10 - 27237708	Apr 26, 2020 (154)
133	gnomAD - Genomes	NC_000008.11 - 27380191	Apr 26, 2021 (155)
134	Genome of the Netherlands Release 5	NC_000008.10 - 27237708	Apr 26, 2020 (154)
135	HGDP-CEPH-db Supplement 1	NC_000008.9 - 27293625	Apr 26, 2020 (154)
136	HapMap	NC_000008.11 - 27380191	Apr 26, 2020 (154)
137	KOREAN population from KRGDB	NC_000008.10 - 27237708	Apr 26, 2020 (154)
138	Korean Genome Project	NC_000008.11 - 27380191	Apr 26, 2020 (154)
139	Northern Sweden	NC_000008.10 - 27237708	Jul 13, 2019 (153)
140	The PAGE Study	NC_000008.11 - 27380191	Jul 13, 2019 (153)
141	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 27237708	Apr 26, 2021 (155)
142	CNV burdens in cranial meningiomas	NC_000008.10 - 27237708	Apr 26, 2021 (155)
143	Qatari	NC_000008.10 - 27237708	Apr 26, 2020 (154)
144	SGDP_PRJ	NC_000008.10 - 27237708	Apr 26, 2020 (154)
145	Siberian	NC_000008.10 - 27237708	Apr 26, 2020 (154)
146	8.3KJPN	NC_000008.10 - 27237708	Apr 26, 2021 (155)
147	14KJPN	NC_000008.11 - 27380191	Oct 16, 2022 (156)
148	TopMed	NC_000008.11 - 27380191	Apr 26, 2021 (155)
149	UK 10K study - Twins	NC_000008.10 - 27237708	Oct 12, 2018 (152)
150	A Vietnamese Genetic Variation Database	NC_000008.10 - 27237708	Jul 13, 2019 (153)
151	ALFA	NC_000008.11 - 27380191	Apr 26, 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)
rs17263990	Oct 08, 2004 (123)
rs58125841	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
587067, ss85468112, ss112938126, ss115182881, ss162272153, ss164260197, ss166440933, ss198960719, ss208675764, ss254215803, ss279746862, ss285818311, ss294245784, ss481022867, ss825522678, ss1594928355, ss1713026025, ss2635181949, ss3639378724, ss3639718288, ss3643683447, ss3847909175	NC_000008.9:27293624:G:A	NC_000008.11:27380190:G:A	(self)
41252573, 22937482, 16320560, 8783955, 10248424, 24174180, 8804416, 577318, 152746, 10666419, 21578417, 5752917, 45884026, 22937482, 5114211, ss223619088, ss234377238, ss241246531, ss481043916, ss482030960, ss485306452, ss537265420, ss560640779, ss655075588, ss778916576, ss783099050, ss784056325, ss832357605, ss833000029, ss834377971, ss985335746, ss1075387078, ss1329150372, ss1431461217, ss1582619017, ss1620262558, ss1663256591, ss1752726974, ss1805461210, ss1928624489, ss1946233249, ss1959099640, ss1970944805, ss2025014838, ss2153236563, ss2634729233, ss2708998485, ss2711134365, ss2864747324, ss3002898177, ss3022832345, ss3348108886, ss3625948542, ss3630028145, ss3632629316, ss3634222682, ss3635165436, ss3635901581, ss3636902668, ss3637654735, ss3638751924, ss3640872726, ss3644966435, ss3653373586, ss3670582312, ss3735519551, ss3744303807, ss3745465237, ss3767792575, ss3772957770, ss3831085628, ss3839052243, ss3869561437, ss3916996786, ss3984603309, ss3985351391, ss5187914719, ss5315322307, ss5380022163, ss5509295414, ss5645041630, ss5799752339, ss5830305154, ss5848171894, ss5974228305	NC_000008.10:27237707:G:A	NC_000008.11:27380190:G:A	(self)
54086700, 290868439, 3592772, 19899924, 654633, 63444636, 617446028, 3035129163, ss2301778486, ss3646086432, ss3648881487, ss3721676011, ss3726525950, ss3771433164, ss3810953981, ss3844510527, ss3963521923, ss4780068468, ss5276535860, ss5473167128, ss5566560765, ss5729607532, ss5809567187, ss5856312623, ss5888261351	NC_000008.11:27380190:G:A	NC_000008.11:27380190:G:A	(self)
ss14352356	NT_023666.16:5611992:G:A	NC_000008.11:27380190:G:A	(self)
ss6523583, ss24716951, ss44860375, ss66619461, ss67366659, ss67751096, ss70819939, ss71401305, ss75479262, ss79192160, ss84333021, ss98061112, ss122369400, ss154311940, ss159488623, ss160704159, ss171886868, ss173793758	NT_167187.1:15095853:G:A	NC_000008.11:27380190:G:A	(self)
3035129163	NC_000008.11:27380190:G:T	NC_000008.11:27380190:G:T	(self)

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

1 citation for rs4732720

PMID	Title	Author	Year	Journal
25114068	Genetic determinants of disease progression in Alzheimer's disease.	Wang X et al.	2015	Journal of Alzheimer's disease

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).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4732720