Name: rs67050083
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.

rs67050083

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:73499276-73499290 (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: del(T)₄ / delTTT / delTT / delT / …
del(T)₄ / delTTT / delTT / delT / dupT / dupTT
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.1111 (980/8818, ALFA)
delT=0.4575 (2291/5008, 1000G)
delT=0.2911 (1122/3854, ALSPAC) (+ 2 more)
delT=0.2743 (1017/3708, TWINSUK)
delT=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AFM : Intron Variant
Publications: 0 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	8818	TTTTTTTTTTTTTTT=0.8783	TTTTTTTTTTTT=0.0045, TTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTT=0.1111, TTTTTTTTTTTTTTTT=0.0059, TTTTTTTTTTTTTTTTT=0.0000	0.809259	0.031481	0.159259	32
European	Sub	7646	TTTTTTTTTTTTTTT=0.8599	TTTTTTTTTTTT=0.0052, TTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTT=0.1279, TTTTTTTTTTTTTTTT=0.0068, TTTTTTTTTTTTTTTTT=0.0000	0.779861	0.036422	0.183717	32
African	Sub	708	TTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	30	TTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	678	TTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	50	TTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	36	TTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	TTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	42	TTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	178	TTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	24	TTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	170	TTTTTTTTTTTTTTT=0.988	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.012, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	0.976471	0.0	0.023529	0

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
Allele Frequency Aggregator	Total	Global	8818	(T)₁₅=0.8783	delTTT=0.0045, delTT=0.0001, delT=0.1111, dupT=0.0059, dupTT=0.0000
Allele Frequency Aggregator	European	Sub	7646	(T)₁₅=0.8599	delTTT=0.0052, delTT=0.0001, delT=0.1279, dupT=0.0068, dupTT=0.0000
Allele Frequency Aggregator	African	Sub	708	(T)₁₅=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	178	(T)₁₅=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	170	(T)₁₅=0.988	delTTT=0.000, delTT=0.000, delT=0.012, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Asian	Sub	50	(T)₁₅=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	42	(T)₁₅=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	South Asian	Sub	24	(T)₁₅=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₅=0.5425	delT=0.4575
1000Genomes	African	Sub	1322	(T)₁₅=0.4856	delT=0.5144
1000Genomes	East Asian	Sub	1008	(T)₁₅=0.5754	delT=0.4246
1000Genomes	Europe	Sub	1006	(T)₁₅=0.6024	delT=0.3976
1000Genomes	South Asian	Sub	978	(T)₁₅=0.542	delT=0.458
1000Genomes	American	Sub	694	(T)₁₅=0.517	delT=0.483
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(T)₁₅=0.7089	delT=0.2911
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(T)₁₅=0.7257	delT=0.2743
The Danish reference pan genome	Danish	Study-wide	40	(T)₁₅=0.68	delT=0.33

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 4	NC_000004.12:g.73499287_73499290del
GRCh38.p14 chr 4	NC_000004.12:g.73499288_73499290del
GRCh38.p14 chr 4	NC_000004.12:g.73499289_73499290del
GRCh38.p14 chr 4	NC_000004.12:g.73499290del
GRCh38.p14 chr 4	NC_000004.12:g.73499290dup
GRCh38.p14 chr 4	NC_000004.12:g.73499289_73499290dup
GRCh37.p13 chr 4	NC_000004.11:g.74365004_74365007del
GRCh37.p13 chr 4	NC_000004.11:g.74365005_74365007del
GRCh37.p13 chr 4	NC_000004.11:g.74365006_74365007del
GRCh37.p13 chr 4	NC_000004.11:g.74365007del
GRCh37.p13 chr 4	NC_000004.11:g.74365007dup
GRCh37.p13 chr 4	NC_000004.11:g.74365006_74365007dup

Gene: AFM, afamin (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AFM transcript	NM_001133.2:c.1422+41_142… NM_001133.2:c.1422+41_1422+44del	N/A	Intron Variant
AFM transcript variant X1	XM_017007842.3:c.1422+41_… XM_017007842.3:c.1422+41_1422+44del	N/A	Intron Variant
AFM transcript variant X2	XM_017007843.3:c.	N/A	Genic Downstream Transcript Variant
AFM transcript variant X3	XM_017007844.3:c.	N/A	Genic Downstream 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	(T)₁₅=	del(T)₄	delTTT	delTT	delT	dupT	dupTT
GRCh38.p14 chr 4	NC_000004.12:g.73499276_73499290=	NC_000004.12:g.73499287_73499290del	NC_000004.12:g.73499288_73499290del	NC_000004.12:g.73499289_73499290del	NC_000004.12:g.73499290del	NC_000004.12:g.73499290dup	NC_000004.12:g.73499289_73499290dup
GRCh37.p13 chr 4	NC_000004.11:g.74364993_74365007=	NC_000004.11:g.74365004_74365007del	NC_000004.11:g.74365005_74365007del	NC_000004.11:g.74365006_74365007del	NC_000004.11:g.74365007del	NC_000004.11:g.74365007dup	NC_000004.11:g.74365006_74365007dup
AFM transcript	NM_001133.2:c.1422+30=	NM_001133.2:c.1422+41_1422+44del	NM_001133.2:c.1422+42_1422+44del	NM_001133.2:c.1422+43_1422+44del	NM_001133.2:c.1422+44del	NM_001133.2:c.1422+44dup	NM_001133.2:c.1422+43_1422+44dup
AFM transcript variant X1	XM_017007842.3:c.1422+30=	XM_017007842.3:c.1422+41_1422+44del	XM_017007842.3:c.1422+42_1422+44del	XM_017007842.3:c.1422+43_1422+44del	XM_017007842.3:c.1422+44del	XM_017007842.3:c.1422+44dup	XM_017007842.3:c.1422+43_1422+44dup

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#.

70 SubSNP, 33 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss98912077	Feb 05, 2009 (130)
2	BUSHMAN	ss193743704	Jul 04, 2010 (132)
3	GMI	ss288541211	May 04, 2012 (137)
4	PJP	ss295171822	May 09, 2011 (137)
5	SSMP	ss663528368	Apr 01, 2015 (144)
6	1000GENOMES	ss1372316860	Aug 21, 2014 (142)
7	EVA_GENOME_DK	ss1576263616	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1704209055	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1704209101	Apr 01, 2015 (144)
10	EVA_EXAC	ss1711763396	Apr 01, 2015 (144)
11	EVA_EXAC	ss1711763397	Apr 01, 2015 (144)
12	EVA_EXAC	ss1711763398	Apr 01, 2015 (144)
13	EVA_EXAC	ss1711763399	Apr 01, 2015 (144)
14	EVA_EXAC	ss1711763400	Apr 01, 2015 (144)
15	EVA_EXAC	ss1711763401	Apr 01, 2015 (144)
16	TMC_SNPDB	ss1997171844	Jul 19, 2016 (147)
17	TMC_SNPDB	ss1997171846	Jan 10, 2018 (151)
18	TMC_SNPDB	ss1997171848	Jul 19, 2016 (147)
19	SWEGEN	ss2994916152	Nov 08, 2017 (151)
20	URBANLAB	ss3647762768	Oct 12, 2018 (152)
21	EVA_DECODE	ss3712305419	Jul 13, 2019 (153)
22	EVA_DECODE	ss3712305420	Jul 13, 2019 (153)
23	EVA_DECODE	ss3712305421	Jul 13, 2019 (153)
24	EVA_DECODE	ss3712305422	Jul 13, 2019 (153)
25	ACPOP	ss3731266337	Jul 13, 2019 (153)
26	ACPOP	ss3731266338	Jul 13, 2019 (153)
27	PACBIO	ss3784754255	Jul 13, 2019 (153)
28	PACBIO	ss3790206732	Jul 13, 2019 (153)
29	PACBIO	ss3795082056	Jul 13, 2019 (153)
30	KHV_HUMAN_GENOMES	ss3805097825	Jul 13, 2019 (153)
31	EVA	ss3828610674	Apr 26, 2020 (154)
32	EVA	ss3837746837	Apr 26, 2020 (154)
33	EVA	ss3843184080	Apr 26, 2020 (154)
34	FSA-LAB	ss3984285786	Apr 26, 2021 (155)
35	FSA-LAB	ss3984285787	Apr 26, 2021 (155)
36	FSA-LAB	ss3984285788	Apr 26, 2021 (155)
37	GNOMAD	ss4113550464	Apr 26, 2021 (155)
38	GNOMAD	ss4113550465	Apr 26, 2021 (155)
39	GNOMAD	ss4113550467	Apr 26, 2021 (155)
40	GNOMAD	ss4113550468	Apr 26, 2021 (155)
41	GNOMAD	ss4113550469	Apr 26, 2021 (155)
42	GNOMAD	ss4113550470	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5166292321	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5166292322	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5166292323	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5166292324	Apr 26, 2021 (155)
47	EVA	ss5237182398	Apr 26, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5259662128	Oct 17, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5259662129	Oct 17, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5259662130	Oct 17, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5259662131	Oct 17, 2022 (156)
52	EVA	ss5314389934	Oct 17, 2022 (156)
53	HUGCELL_USP	ss5458370640	Oct 17, 2022 (156)
54	HUGCELL_USP	ss5458370641	Oct 17, 2022 (156)
55	HUGCELL_USP	ss5458370642	Oct 17, 2022 (156)
56	HUGCELL_USP	ss5458370643	Oct 17, 2022 (156)
57	EVA	ss5624139982	Oct 17, 2022 (156)
58	TOMMO_GENOMICS	ss5700797355	Oct 17, 2022 (156)
59	TOMMO_GENOMICS	ss5700797356	Oct 17, 2022 (156)
60	TOMMO_GENOMICS	ss5700797357	Oct 17, 2022 (156)
61	TOMMO_GENOMICS	ss5700797358	Oct 17, 2022 (156)
62	EVA	ss5800115904	Oct 17, 2022 (156)
63	EVA	ss5844176221	Oct 17, 2022 (156)
64	EVA	ss5863961729	Oct 17, 2022 (156)
65	EVA	ss5935715825	Oct 17, 2022 (156)
66	EVA	ss5935715826	Oct 17, 2022 (156)
67	EVA	ss5935715827	Oct 17, 2022 (156)
68	EVA	ss5963679723	Oct 17, 2022 (156)
69	EVA	ss5980231315	Oct 17, 2022 (156)
70	EVA	ss5981222900	Oct 17, 2022 (156)
71	1000Genomes	NC_000004.11 - 74364993	Oct 12, 2018 (152)
72	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 74364993	Oct 12, 2018 (152)
73	ExAC Submission ignored due to conflicting rows: Row 7496902 (NC_000004.11:74364992:TTTT: 33/27678) Row 7496903 (NC_000004.11:74364992:TTT: 1444/27678) Row 7496904 (NC_000004.11:74364992:TT: 539/27678) Row 7496905 (NC_000004.11:74364992:T: 8376/27678) Row 7496906 (NC_000004.11:74364992::T 996/27678) Row 7496907 (NC_000004.11:74364992::TT 11/27678)	-	Oct 12, 2018 (152)
74	ExAC Submission ignored due to conflicting rows: Row 7496902 (NC_000004.11:74364992:TTTT: 33/27678) Row 7496903 (NC_000004.11:74364992:TTT: 1444/27678) Row 7496904 (NC_000004.11:74364992:TT: 539/27678) Row 7496905 (NC_000004.11:74364992:T: 8376/27678) Row 7496906 (NC_000004.11:74364992::T 996/27678) Row 7496907 (NC_000004.11:74364992::TT 11/27678)	-	Oct 12, 2018 (152)
75	ExAC Submission ignored due to conflicting rows: Row 7496902 (NC_000004.11:74364992:TTTT: 33/27678) Row 7496903 (NC_000004.11:74364992:TTT: 1444/27678) Row 7496904 (NC_000004.11:74364992:TT: 539/27678) Row 7496905 (NC_000004.11:74364992:T: 8376/27678) Row 7496906 (NC_000004.11:74364992::T 996/27678) Row 7496907 (NC_000004.11:74364992::TT 11/27678)	-	Oct 12, 2018 (152)
76	ExAC Submission ignored due to conflicting rows: Row 7496902 (NC_000004.11:74364992:TTTT: 33/27678) Row 7496903 (NC_000004.11:74364992:TTT: 1444/27678) Row 7496904 (NC_000004.11:74364992:TT: 539/27678) Row 7496905 (NC_000004.11:74364992:T: 8376/27678) Row 7496906 (NC_000004.11:74364992::T 996/27678) Row 7496907 (NC_000004.11:74364992::TT 11/27678)	-	Oct 12, 2018 (152)
77	ExAC Submission ignored due to conflicting rows: Row 7496902 (NC_000004.11:74364992:TTTT: 33/27678) Row 7496903 (NC_000004.11:74364992:TTT: 1444/27678) Row 7496904 (NC_000004.11:74364992:TT: 539/27678) Row 7496905 (NC_000004.11:74364992:T: 8376/27678) Row 7496906 (NC_000004.11:74364992::T 996/27678) Row 7496907 (NC_000004.11:74364992::TT 11/27678)	-	Oct 12, 2018 (152)
78	ExAC Submission ignored due to conflicting rows: Row 7496902 (NC_000004.11:74364992:TTTT: 33/27678) Row 7496903 (NC_000004.11:74364992:TTT: 1444/27678) Row 7496904 (NC_000004.11:74364992:TT: 539/27678) Row 7496905 (NC_000004.11:74364992:T: 8376/27678) Row 7496906 (NC_000004.11:74364992::T 996/27678) Row 7496907 (NC_000004.11:74364992::TT 11/27678)	-	Oct 12, 2018 (152)
79	The Danish reference pan genome	NC_000004.11 - 74364993	Apr 26, 2020 (154)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 153568176 (NC_000004.12:73499275::T 3227/131062) Row 153568177 (NC_000004.12:73499275::TT 3/131112) Row 153568179 (NC_000004.12:73499275:T: 45079/130902)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 153568176 (NC_000004.12:73499275::T 3227/131062) Row 153568177 (NC_000004.12:73499275::TT 3/131112) Row 153568179 (NC_000004.12:73499275:T: 45079/130902)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 153568176 (NC_000004.12:73499275::T 3227/131062) Row 153568177 (NC_000004.12:73499275::TT 3/131112) Row 153568179 (NC_000004.12:73499275:T: 45079/130902)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 153568176 (NC_000004.12:73499275::T 3227/131062) Row 153568177 (NC_000004.12:73499275::TT 3/131112) Row 153568179 (NC_000004.12:73499275:T: 45079/130902)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 153568176 (NC_000004.12:73499275::T 3227/131062) Row 153568177 (NC_000004.12:73499275::TT 3/131112) Row 153568179 (NC_000004.12:73499275:T: 45079/130902)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 153568176 (NC_000004.12:73499275::T 3227/131062) Row 153568177 (NC_000004.12:73499275::TT 3/131112) Row 153568179 (NC_000004.12:73499275:T: 45079/130902)...	-	Apr 26, 2021 (155)
86	gnomAD - Exomes Submission ignored due to conflicting rows: Row 3670286 (NC_000004.11:74364992::T 2788/56138) Row 3670287 (NC_000004.11:74364992::TT 105/56138) Row 3670288 (NC_000004.11:74364992:T: 19371/56138)...	-	Jul 13, 2019 (153)
87	gnomAD - Exomes Submission ignored due to conflicting rows: Row 3670286 (NC_000004.11:74364992::T 2788/56138) Row 3670287 (NC_000004.11:74364992::TT 105/56138) Row 3670288 (NC_000004.11:74364992:T: 19371/56138)...	-	Jul 13, 2019 (153)
88	gnomAD - Exomes Submission ignored due to conflicting rows: Row 3670286 (NC_000004.11:74364992::T 2788/56138) Row 3670287 (NC_000004.11:74364992::TT 105/56138) Row 3670288 (NC_000004.11:74364992:T: 19371/56138)...	-	Jul 13, 2019 (153)
89	gnomAD - Exomes Submission ignored due to conflicting rows: Row 3670286 (NC_000004.11:74364992::T 2788/56138) Row 3670287 (NC_000004.11:74364992::TT 105/56138) Row 3670288 (NC_000004.11:74364992:T: 19371/56138)...	-	Jul 13, 2019 (153)
90	gnomAD - Exomes Submission ignored due to conflicting rows: Row 3670286 (NC_000004.11:74364992::T 2788/56138) Row 3670287 (NC_000004.11:74364992::TT 105/56138) Row 3670288 (NC_000004.11:74364992:T: 19371/56138)...	-	Jul 13, 2019 (153)
91	gnomAD - Exomes Submission ignored due to conflicting rows: Row 3670286 (NC_000004.11:74364992::T 2788/56138) Row 3670287 (NC_000004.11:74364992::TT 105/56138) Row 3670288 (NC_000004.11:74364992:T: 19371/56138)...	-	Jul 13, 2019 (153)
92	Northern Sweden Submission ignored due to conflicting rows: Row 4551202 (NC_000004.11:74364992:T: 137/590) Row 4551203 (NC_000004.11:74364992:TTT: 5/590)	-	Jul 13, 2019 (153)
93	Northern Sweden Submission ignored due to conflicting rows: Row 4551202 (NC_000004.11:74364992:T: 137/590) Row 4551203 (NC_000004.11:74364992:TTT: 5/590)	-	Jul 13, 2019 (153)
94	8.3KJPN Submission ignored due to conflicting rows: Row 24261628 (NC_000004.11:74364992:T: 5894/16760) Row 24261629 (NC_000004.11:74364992:TT: 5/16760) Row 24261630 (NC_000004.11:74364992:TTT: 145/16760)...	-	Apr 26, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 24261628 (NC_000004.11:74364992:T: 5894/16760) Row 24261629 (NC_000004.11:74364992:TT: 5/16760) Row 24261630 (NC_000004.11:74364992:TTT: 145/16760)...	-	Apr 26, 2021 (155)
96	8.3KJPN Submission ignored due to conflicting rows: Row 24261628 (NC_000004.11:74364992:T: 5894/16760) Row 24261629 (NC_000004.11:74364992:TT: 5/16760) Row 24261630 (NC_000004.11:74364992:TTT: 145/16760)...	-	Apr 26, 2021 (155)
97	8.3KJPN Submission ignored due to conflicting rows: Row 24261628 (NC_000004.11:74364992:T: 5894/16760) Row 24261629 (NC_000004.11:74364992:TT: 5/16760) Row 24261630 (NC_000004.11:74364992:TTT: 145/16760)...	-	Apr 26, 2021 (155)
98	14KJPN Submission ignored due to conflicting rows: Row 34634459 (NC_000004.12:73499275:T: 10105/28258) Row 34634460 (NC_000004.12:73499275::T 5/28258) Row 34634461 (NC_000004.12:73499275:TT: 9/28258)...	-	Oct 17, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 34634459 (NC_000004.12:73499275:T: 10105/28258) Row 34634460 (NC_000004.12:73499275::T 5/28258) Row 34634461 (NC_000004.12:73499275:TT: 9/28258)...	-	Oct 17, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 34634459 (NC_000004.12:73499275:T: 10105/28258) Row 34634460 (NC_000004.12:73499275::T 5/28258) Row 34634461 (NC_000004.12:73499275:TT: 9/28258)...	-	Oct 17, 2022 (156)
101	14KJPN Submission ignored due to conflicting rows: Row 34634459 (NC_000004.12:73499275:T: 10105/28258) Row 34634460 (NC_000004.12:73499275::T 5/28258) Row 34634461 (NC_000004.12:73499275:TT: 9/28258)...	-	Oct 17, 2022 (156)
102	UK 10K study - Twins	NC_000004.11 - 74364993	Oct 12, 2018 (152)
103	ALFA	NC_000004.12 - 73499276	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)
rs879235064	Nov 08, 2017 (151)
rs67050084	Feb 26, 2009 (130)
rs72221910	May 11, 2012 (137)
rs144564906	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1711763400	NC_000004.11:74364992:TTTT:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4113550470	NC_000004.12:73499275:TTTT:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss1711763399, ss2994916152, ss3731266338, ss5166292323, ss5981222900	NC_000004.11:74364992:TTT:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3712305419, ss4113550469, ss5259662129, ss5458370643, ss5700797358	NC_000004.12:73499275:TTT:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
3085787070	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss1711763398, ss1997171848, ss3984285786, ss3984285787, ss5166292322, ss5935715827	NC_000004.11:74364992:TT:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3984285788	NC_000004.11:74364994:TT:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4113550468, ss5259662131, ss5458370640, ss5700797357	NC_000004.12:73499275:TT:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
3085787070	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3712305420	NC_000004.12:73499276:TT:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss288541211	NC_000004.10:74583856:T:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss295171822	NC_000004.10:74583870:T:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
21679514, 12050408, 918891, 12050408, ss663528368, ss1372316860, ss1576263616, ss1704209055, ss1704209101, ss1711763396, ss3731266337, ss3784754255, ss3790206732, ss3795082056, ss3828610674, ss3837746837, ss5166292321, ss5314389934, ss5624139982, ss5800115904, ss5844176221, ss5935715826, ss5963679723, ss5980231315	NC_000004.11:74364992:T:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss1997171844	NC_000004.11:74364993:T:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3647762768, ss3805097825, ss3843184080, ss4113550467, ss5237182398, ss5259662128, ss5458370641, ss5700797355, ss5863961729	NC_000004.12:73499275:T:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
3085787070	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3712305421	NC_000004.12:73499277:T:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss193743704	NT_016354.20:14577894:T:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss98912077	NT_022778.16:14575659:T:	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss1711763397, ss5166292324, ss5935715825	NC_000004.11:74364992::T	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss1997171846	NC_000004.11:74364993::T	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4113550464, ss5259662130, ss5458370642, ss5700797356	NC_000004.12:73499275::T	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
3085787070	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3712305422	NC_000004.12:73499278::T	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss1711763401	NC_000004.11:74364992::TT	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4113550465	NC_000004.12:73499275::TT	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
3085787070	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000004.12:73499275:TTTTTTTTTTTT… NC_000004.12:73499275:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)

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

No publications for rs67050083

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs67050083