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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the 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.

rs752074481

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:15523011-15523016 (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
delCTCT / delCT / dupCTCT
Variation Type
Indel Insertion and Deletion
Frequency
delCTCT=0.00011 (3/28258, 14KJPN)
delCT=0.00015 (4/27508, ALFA)
delCTCT=0.00006 (1/16760, 8.3KJPN) (+ 3 more)
delCTCT=0.0004 (2/4480, Estonian)
delCT=0.0000 (0/3854, ALSPAC)
delCT=0.0003 (1/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
DTNBP1 : Frameshift 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 27508 CTCTCT=0.99978 CT=0.00007, CTCT=0.00015, CTCTCTCTCT=0.00000
European Sub 20214 CTCTCT=0.99970 CT=0.00010, CTCT=0.00020, CTCTCTCTCT=0.00000
African Sub 3492 CTCTCT=1.0000 CT=0.0000, CTCT=0.0000, CTCTCTCTCT=0.0000
African Others Sub 122 CTCTCT=1.000 CT=0.000, CTCT=0.000, CTCTCTCTCT=0.000
African American Sub 3370 CTCTCT=1.0000 CT=0.0000, CTCT=0.0000, CTCTCTCTCT=0.0000
Asian Sub 168 CTCTCT=1.000 CT=0.000, CTCT=0.000, CTCTCTCTCT=0.000
East Asian Sub 112 CTCTCT=1.000 CT=0.000, CTCT=0.000, CTCTCTCTCT=0.000
Other Asian Sub 56 CTCTCT=1.00 CT=0.00, CTCT=0.00, CTCTCTCTCT=0.00
Latin American 1 Sub 146 CTCTCT=1.000 CT=0.000, CTCT=0.000, CTCTCTCTCT=0.000
Latin American 2 Sub 610 CTCTCT=1.000 CT=0.000, CTCT=0.000, CTCTCTCTCT=0.000
South Asian Sub 98 CTCTCT=1.00 CT=0.00, CTCT=0.00, CTCTCTCTCT=0.00
Other Sub 2780 CTCTCT=1.0000 CT=0.0000, CTCT=0.0000, CTCTCTCTCT=0.0000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
14KJPN JAPANESE Study-wide 28258 (CT)3=0.99989 delCTCT=0.00011
Allele Frequency Aggregator Total Global 27508 (CT)3=0.99978 delCTCT=0.00007, delCT=0.00015, dupCTCT=0.00000
Allele Frequency Aggregator European Sub 20214 (CT)3=0.99970 delCTCT=0.00010, delCT=0.00020, dupCTCT=0.00000
Allele Frequency Aggregator African Sub 3492 (CT)3=1.0000 delCTCT=0.0000, delCT=0.0000, dupCTCT=0.0000
Allele Frequency Aggregator Other Sub 2780 (CT)3=1.0000 delCTCT=0.0000, delCT=0.0000, dupCTCT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 (CT)3=1.000 delCTCT=0.000, delCT=0.000, dupCTCT=0.000
Allele Frequency Aggregator Asian Sub 168 (CT)3=1.000 delCTCT=0.000, delCT=0.000, dupCTCT=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (CT)3=1.000 delCTCT=0.000, delCT=0.000, dupCTCT=0.000
Allele Frequency Aggregator South Asian Sub 98 (CT)3=1.00 delCTCT=0.00, delCT=0.00, dupCTCT=0.00
8.3KJPN JAPANESE Study-wide 16760 (CT)3=0.99994 delCTCT=0.00006
Genetic variation in the Estonian population Estonian Study-wide 4480 (CT)3=0.9996 delCTCT=0.0004
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (CT)3=1.0000 delCT=0.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 (CT)3=0.9997 delCT=0.0003
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 6 NC_000006.12:g.15523011CT[1]
GRCh38.p14 chr 6 NC_000006.12:g.15523011CT[2]
GRCh38.p14 chr 6 NC_000006.12:g.15523011CT[5]
GRCh37.p13 chr 6 NC_000006.11:g.15523242CT[1]
GRCh37.p13 chr 6 NC_000006.11:g.15523242CT[2]
GRCh37.p13 chr 6 NC_000006.11:g.15523242CT[5]
DTNBP1 RefSeqGene (LRG_588) NG_009309.1:g.145025AG[1]
DTNBP1 RefSeqGene (LRG_588) NG_009309.1:g.145025AG[2]
DTNBP1 RefSeqGene (LRG_588) NG_009309.1:g.145025AG[5]
Gene: DTNBP1, dystrobrevin binding protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DTNBP1 transcript variant 2 NM_183040.2:c. N/A Genic Downstream Transcript Variant
DTNBP1 transcript variant 1 NM_032122.5:c.1017_1020del R [AGA] > R [AG] Coding Sequence Variant
dysbindin isoform a NP_115498.2:p.Glu340fs R (Arg) > R (Arg) Frameshift Variant
DTNBP1 transcript variant 1 NM_032122.5:c.1019_1020del E [GA] > G [G] Coding Sequence Variant
dysbindin isoform a NP_115498.2:p.Glu340fs E (Glu) > G (Gly) Frameshift Variant
DTNBP1 transcript variant 1 NM_032122.5:c.1017_1020dup A [GCC] > R [AGAGGCC] Coding Sequence Variant
dysbindin isoform a NP_115498.2:p.Ala341fs A (Ala) > R (Arg) Frameshift Variant
DTNBP1 transcript variant 3 NM_001271667.2:c.774_777d…

NM_001271667.2:c.774_777del

R [AGA] > R [AG] Coding Sequence Variant
dysbindin isoform C NP_001258596.1:p.Glu259fs R (Arg) > R (Arg) Frameshift Variant
DTNBP1 transcript variant 3 NM_001271667.2:c.776_777d…

NM_001271667.2:c.776_777del

E [GA] > G [G] Coding Sequence Variant
dysbindin isoform C NP_001258596.1:p.Glu259fs E (Glu) > G (Gly) Frameshift Variant
DTNBP1 transcript variant 3 NM_001271667.2:c.774_777d…

NM_001271667.2:c.774_777dup

A [GCC] > R [AGAGGCC] Coding Sequence Variant
dysbindin isoform C NP_001258596.1:p.Ala260fs A (Ala) > R (Arg) Frameshift Variant
DTNBP1 transcript variant 6 NM_001271669.2:c.912_915d…

NM_001271669.2:c.912_915del

R [AGA] > R [AG] Coding Sequence Variant
dysbindin isoform e NP_001258598.1:p.Glu305fs R (Arg) > R (Arg) Frameshift Variant
DTNBP1 transcript variant 6 NM_001271669.2:c.914_915d…

NM_001271669.2:c.914_915del

E [GA] > G [G] Coding Sequence Variant
dysbindin isoform e NP_001258598.1:p.Glu305fs E (Glu) > G (Gly) Frameshift Variant
DTNBP1 transcript variant 6 NM_001271669.2:c.912_915d…

NM_001271669.2:c.912_915dup

A [GCC] > R [AGAGGCC] Coding Sequence Variant
dysbindin isoform e NP_001258598.1:p.Ala306fs A (Ala) > R (Arg) Frameshift Variant
DTNBP1 transcript variant 5 NM_001271668.2:c.966_969d…

NM_001271668.2:c.966_969del

R [AGA] > R [AG] Coding Sequence Variant
dysbindin isoform d NP_001258597.1:p.Glu323fs R (Arg) > R (Arg) Frameshift Variant
DTNBP1 transcript variant 5 NM_001271668.2:c.968_969d…

NM_001271668.2:c.968_969del

E [GA] > G [G] Coding Sequence Variant
dysbindin isoform d NP_001258597.1:p.Glu323fs E (Glu) > G (Gly) Frameshift Variant
DTNBP1 transcript variant 5 NM_001271668.2:c.966_969d…

NM_001271668.2:c.966_969dup

A [GCC] > R [AGAGGCC] Coding Sequence Variant
dysbindin isoform d NP_001258597.1:p.Ala324fs A (Ala) > R (Arg) Frameshift Variant
DTNBP1 transcript variant 4 NR_036448.3:n. N/A Genic Downstream Transcript Variant
DTNBP1 transcript variant X1 XM_047419394.1:c.978_981d…

XM_047419394.1:c.978_981del

R [AGA] > R [AG] Coding Sequence Variant
dysbindin isoform X1 XP_047275350.1:p.Glu327fs R (Arg) > R (Arg) Frameshift Variant
DTNBP1 transcript variant X1 XM_047419394.1:c.980_981d…

XM_047419394.1:c.980_981del

E [GA] > G [G] Coding Sequence Variant
dysbindin isoform X1 XP_047275350.1:p.Glu327fs E (Glu) > G (Gly) Frameshift Variant
DTNBP1 transcript variant X1 XM_047419394.1:c.978_981d…

XM_047419394.1:c.978_981dup

A [GCC] > R [AGAGGCC] Coding Sequence Variant
dysbindin isoform X1 XP_047275350.1:p.Ala328fs A (Ala) > R (Arg) Frameshift Variant
DTNBP1 transcript variant X2 XM_047419395.1:c.927_930d…

XM_047419395.1:c.927_930del

R [AGA] > R [AG] Coding Sequence Variant
dysbindin isoform X2 XP_047275351.1:p.Glu310fs R (Arg) > R (Arg) Frameshift Variant
DTNBP1 transcript variant X2 XM_047419395.1:c.929_930d…

XM_047419395.1:c.929_930del

E [GA] > G [G] Coding Sequence Variant
dysbindin isoform X2 XP_047275351.1:p.Glu310fs E (Glu) > G (Gly) Frameshift Variant
DTNBP1 transcript variant X2 XM_047419395.1:c.927_930d…

XM_047419395.1:c.927_930dup

A [GCC] > R [AGAGGCC] Coding Sequence Variant
dysbindin isoform X2 XP_047275351.1:p.Ala311fs A (Ala) > R (Arg) Frameshift Variant
DTNBP1 transcript variant X3 XM_011514937.3:c.549_552d…

XM_011514937.3:c.549_552del

R [AGA] > R [AG] Coding Sequence Variant
dysbindin isoform X3 XP_011513239.1:p.Glu184fs R (Arg) > R (Arg) Frameshift Variant
DTNBP1 transcript variant X3 XM_011514937.3:c.551_552d…

XM_011514937.3:c.551_552del

E [GA] > G [G] Coding Sequence Variant
dysbindin isoform X3 XP_011513239.1:p.Glu184fs E (Glu) > G (Gly) Frameshift Variant
DTNBP1 transcript variant X3 XM_011514937.3:c.549_552d…

XM_011514937.3:c.549_552dup

A [GCC] > R [AGAGGCC] Coding Sequence Variant
dysbindin isoform X3 XP_011513239.1:p.Ala185fs A (Ala) > R (Arg) Frameshift Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: delCTCT (allele ID: 615412 )
ClinVar Accession Disease Names Clinical Significance
RCV000778784.2 Hermansky-Pudlak syndrome 7 Uncertain-Significance
RCV000851631.1 Hermansky-Pudlak syndrome Pathogenic
Allele: delCT (allele ID: 428536 )
ClinVar Accession Disease Names Clinical Significance
RCV000501240.6 not specified Uncertain-Significance
RCV000778783.5 Hermansky-Pudlak syndrome 7 Uncertain-Significance
RCV001851409.2 not provided Uncertain-Significance
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (CT)3= delCTCT delCT dupCTCT
GRCh38.p14 chr 6 NC_000006.12:g.15523011_15523016= NC_000006.12:g.15523011CT[1] NC_000006.12:g.15523011CT[2] NC_000006.12:g.15523011CT[5]
GRCh37.p13 chr 6 NC_000006.11:g.15523242_15523247= NC_000006.11:g.15523242CT[1] NC_000006.11:g.15523242CT[2] NC_000006.11:g.15523242CT[5]
DTNBP1 RefSeqGene (LRG_588) NG_009309.1:g.145025_145030= NG_009309.1:g.145025AG[1] NG_009309.1:g.145025AG[2] NG_009309.1:g.145025AG[5]
DTNBP1 transcript variant 1 NM_032122.5:c.1015_1020= NM_032122.5:c.1017_1020del NM_032122.5:c.1019_1020del NM_032122.5:c.1017_1020dup
DTNBP1 transcript variant 1 NM_032122.4:c.1015_1020= NM_032122.4:c.1017_1020del NM_032122.4:c.1019_1020del NM_032122.4:c.1017_1020dup
DTNBP1 transcript variant 3 NM_001271667.2:c.772_777= NM_001271667.2:c.774_777del NM_001271667.2:c.776_777del NM_001271667.2:c.774_777dup
DTNBP1 transcript variant 3 NM_001271667.1:c.772_777= NM_001271667.1:c.774_777del NM_001271667.1:c.776_777del NM_001271667.1:c.774_777dup
DTNBP1 transcript variant 5 NM_001271668.2:c.964_969= NM_001271668.2:c.966_969del NM_001271668.2:c.968_969del NM_001271668.2:c.966_969dup
DTNBP1 transcript variant 5 NM_001271668.1:c.964_969= NM_001271668.1:c.966_969del NM_001271668.1:c.968_969del NM_001271668.1:c.966_969dup
DTNBP1 transcript variant 6 NM_001271669.2:c.910_915= NM_001271669.2:c.912_915del NM_001271669.2:c.914_915del NM_001271669.2:c.912_915dup
DTNBP1 transcript variant 6 NM_001271669.1:c.910_915= NM_001271669.1:c.912_915del NM_001271669.1:c.914_915del NM_001271669.1:c.912_915dup
DTNBP1 transcript variant X3 XM_011514937.3:c.547_552= XM_011514937.3:c.549_552del XM_011514937.3:c.551_552del XM_011514937.3:c.549_552dup
DTNBP1 transcript variant X6 XM_011514937.2:c.547_552= XM_011514937.2:c.549_552del XM_011514937.2:c.551_552del XM_011514937.2:c.549_552dup
DTNBP1 transcript variant X3 XM_011514937.1:c.547_552= XM_011514937.1:c.549_552del XM_011514937.1:c.551_552del XM_011514937.1:c.549_552dup
DTNBP1 transcript variant 3 NM_183041.1:c.772_777= NM_183041.1:c.774_777del NM_183041.1:c.776_777del NM_183041.1:c.774_777dup
DTNBP1 transcript variant X1 XM_047419394.1:c.976_981= XM_047419394.1:c.978_981del XM_047419394.1:c.980_981del XM_047419394.1:c.978_981dup
DTNBP1 transcript variant X2 XM_047419395.1:c.925_930= XM_047419395.1:c.927_930del XM_047419395.1:c.929_930del XM_047419395.1:c.927_930dup
dysbindin isoform a NP_115498.2:p.Arg339_Glu340= NP_115498.2:p.Glu340fs NP_115498.2:p.Glu340fs NP_115498.2:p.Ala341fs
dysbindin isoform C NP_001258596.1:p.Arg258_Glu259= NP_001258596.1:p.Glu259fs NP_001258596.1:p.Glu259fs NP_001258596.1:p.Ala260fs
dysbindin isoform d NP_001258597.1:p.Arg322_Glu323= NP_001258597.1:p.Glu323fs NP_001258597.1:p.Glu323fs NP_001258597.1:p.Ala324fs
dysbindin isoform e NP_001258598.1:p.Arg304_Glu305= NP_001258598.1:p.Glu305fs NP_001258598.1:p.Glu305fs NP_001258598.1:p.Ala306fs
dysbindin isoform X3 XP_011513239.1:p.Arg183_Glu184= XP_011513239.1:p.Glu184fs XP_011513239.1:p.Glu184fs XP_011513239.1:p.Ala185fs
dysbindin isoform X1 XP_047275350.1:p.Arg326_Glu327= XP_047275350.1:p.Glu327fs XP_047275350.1:p.Glu327fs XP_047275350.1:p.Ala328fs
dysbindin isoform X2 XP_047275351.1:p.Arg309_Glu310= XP_047275351.1:p.Glu310fs XP_047275351.1:p.Glu310fs XP_047275351.1:p.Ala311fs
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

16 SubSNP, 15 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_UK10K_ALSPAC ss1705053857 Apr 01, 2015 (144)
2 EVA_UK10K_TWINSUK ss1705053959 Apr 01, 2015 (144)
3 EVA_EXAC ss1711812244 Apr 01, 2015 (144)
4 EVA_EXAC ss1711812245 Apr 01, 2015 (144)
5 AFFY ss2985354520 Nov 08, 2017 (151)
6 AFFY ss2985983075 Nov 08, 2017 (151)
7 ILLUMINA ss3654122701 Oct 12, 2018 (152)
8 EGCUT_WGS ss3666496466 Jul 13, 2019 (153)
9 EVA_DECODE ss3716648695 Jul 13, 2019 (153)
10 GNOMAD ss4137438822 Apr 26, 2021 (155)
11 GNOMAD ss4137438823 Apr 26, 2021 (155)
12 TOPMED ss4694686380 Apr 26, 2021 (155)
13 TOPMED ss4694686382 Apr 26, 2021 (155)
14 TOPMED ss4694686383 Apr 26, 2021 (155)
15 TOMMO_GENOMICS ss5176301279 Apr 26, 2021 (155)
16 TOMMO_GENOMICS ss5714007355 Oct 13, 2022 (156)
17 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 15523242 Oct 12, 2018 (152)
18 Genetic variation in the Estonian population NC_000006.11 - 15523242 Oct 12, 2018 (152)
19 ExAC

Submission ignored due to conflicting rows:
Row 8185851 (NC_000006.11:15523241:CTCT: 6/121412)
Row 8185852 (NC_000006.11:15523241:CT: 12/121412)

- Oct 12, 2018 (152)
20 ExAC

Submission ignored due to conflicting rows:
Row 8185851 (NC_000006.11:15523241:CTCT: 6/121412)
Row 8185852 (NC_000006.11:15523241:CT: 12/121412)

- Oct 12, 2018 (152)
21 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217983015 (NC_000006.12:15523010:CT: 17/140290)
Row 217983016 (NC_000006.12:15523010:CTCT: 33/140290)

- Apr 26, 2021 (155)
22 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217983015 (NC_000006.12:15523010:CT: 17/140290)
Row 217983016 (NC_000006.12:15523010:CTCT: 33/140290)

- Apr 26, 2021 (155)
23 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 4688856 (NC_000006.11:15523241:CT: 31/251488)
Row 4688857 (NC_000006.11:15523241:CTCT: 31/251488)

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

Submission ignored due to conflicting rows:
Row 4688856 (NC_000006.11:15523241:CT: 31/251488)
Row 4688857 (NC_000006.11:15523241:CTCT: 31/251488)

- Jul 13, 2019 (153)
25 8.3KJPN NC_000006.11 - 15523242 Apr 26, 2021 (155)
26 14KJPN NC_000006.12 - 15523011 Oct 13, 2022 (156)
27 TopMed

Submission ignored due to conflicting rows:
Row 532063938 (NC_000006.12:15523010::CTCT 1/264690)
Row 532063940 (NC_000006.12:15523010:CT: 25/264690)
Row 532063941 (NC_000006.12:15523010:CTCT: 69/264690)

- Apr 26, 2021 (155)
28 TopMed

Submission ignored due to conflicting rows:
Row 532063938 (NC_000006.12:15523010::CTCT 1/264690)
Row 532063940 (NC_000006.12:15523010:CT: 25/264690)
Row 532063941 (NC_000006.12:15523010:CTCT: 69/264690)

- Apr 26, 2021 (155)
29 TopMed

Submission ignored due to conflicting rows:
Row 532063938 (NC_000006.12:15523010::CTCT 1/264690)
Row 532063940 (NC_000006.12:15523010:CT: 25/264690)
Row 532063941 (NC_000006.12:15523010:CTCT: 69/264690)

- Apr 26, 2021 (155)
30 UK 10K study - Twins NC_000006.11 - 15523242 Oct 12, 2018 (152)
31 ALFA NC_000006.12 - 15523011 Apr 26, 2021 (155)
32 ClinVar RCV000501240.6 Oct 13, 2022 (156)
33 ClinVar RCV000778783.5 Oct 13, 2022 (156)
34 ClinVar RCV000778784.2 Oct 13, 2022 (156)
35 ClinVar RCV000851631.1 Apr 26, 2020 (154)
36 ClinVar RCV001851409.2 Oct 13, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
12234714, 34270586, ss1711812245, ss2985354520, ss2985983075, ss3654122701, ss3666496466, ss5176301279 NC_000006.11:15523241:CTCT: NC_000006.12:15523010:CTCTCT:CT (self)
47844459, ss3716648695, ss4137438823, ss4694686383, ss5714007355 NC_000006.12:15523010:CTCT: NC_000006.12:15523010:CTCTCT:CT (self)
RCV000778784.2, RCV000851631.1, 3812319827 NC_000006.12:15523010:CTCTCT:CT NC_000006.12:15523010:CTCTCT:CT (self)
17179043, 17179043, ss1705053857, ss1705053959, ss1711812244 NC_000006.11:15523241:CT: NC_000006.12:15523010:CTCTCT:CTCT (self)
ss4137438822, ss4694686382 NC_000006.12:15523010:CT: NC_000006.12:15523010:CTCTCT:CTCT (self)
RCV000501240.6, RCV000778783.5, RCV001851409.2, 3812319827 NC_000006.12:15523010:CTCTCT:CTCT NC_000006.12:15523010:CTCTCT:CTCT (self)
ss4694686380 NC_000006.12:15523010::CTCT NC_000006.12:15523010:CTCTCT:CTCTC…

NC_000006.12:15523010:CTCTCT:CTCTCTCTCT

(self)
3812319827 NC_000006.12:15523010:CTCTCT:CTCTC…

NC_000006.12:15523010:CTCTCT:CTCTCTCTCT

NC_000006.12:15523010:CTCTCT:CTCTC…

NC_000006.12:15523010:CTCTCT:CTCTCTCTCT

(self)
Help

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

1 citation for rs752074481
PMID Title Author Year Journal
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
Help

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.

Software version is: 2.0.1.post761+d5e8e07