Name: rs34304441
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.

rs34304441

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:3960804-3960824 (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(A)₁₄ / del(A)₇ / del(A)₆ / del…
del(A)₁₄ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.3433 (1719/5008, 1000G)
del(A)₁₄=0.000 (0/586, ALFA)
del(A)₇=0.000 (0/586, ALFA) (+ 9 more)
del(A)₆=0.000 (0/586, ALFA)
del(A)₅=0.000 (0/586, ALFA)
del(A)₄=0.000 (0/586, ALFA)
delAAA=0.000 (0/586, ALFA)
delAA=0.000 (0/586, ALFA)
delA=0.000 (0/586, ALFA)
dupA=0.000 (0/586, ALFA)
dupAA=0.000 (0/586, ALFA)
dupAAA=0.000 (0/586, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DAPK3 : 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	586	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	300	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	248	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	10	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	238	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	4	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	16	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	8	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	10	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A

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
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.3433
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.3775
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.3046
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.3529
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.378
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.271
Allele Frequency Aggregator	Total	Global	586	(A)₂₁=1.000	del(A)₁₄=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	European	Sub	300	(A)₂₁=1.000	del(A)₁₄=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	African	Sub	248	(A)₂₁=1.000	del(A)₁₄=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	16	(A)₂₁=1.00	del(A)₁₄=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Other	Sub	10	(A)₂₁=1.0	del(A)₁₄=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	South Asian	Sub	8	(A)₂₁=1.0	del(A)₁₄=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	4	(A)₂₁=1.0	del(A)₁₄=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₁=0	del(A)₁₄=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0

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 19	NC_000019.10:g.3960811_3960824del
GRCh38.p14 chr 19	NC_000019.10:g.3960818_3960824del
GRCh38.p14 chr 19	NC_000019.10:g.3960819_3960824del
GRCh38.p14 chr 19	NC_000019.10:g.3960820_3960824del
GRCh38.p14 chr 19	NC_000019.10:g.3960821_3960824del
GRCh38.p14 chr 19	NC_000019.10:g.3960822_3960824del
GRCh38.p14 chr 19	NC_000019.10:g.3960823_3960824del
GRCh38.p14 chr 19	NC_000019.10:g.3960824del
GRCh38.p14 chr 19	NC_000019.10:g.3960824dup
GRCh38.p14 chr 19	NC_000019.10:g.3960823_3960824dup
GRCh38.p14 chr 19	NC_000019.10:g.3960822_3960824dup
GRCh38.p14 chr 19	NC_000019.10:g.3960821_3960824dup
GRCh38.p14 chr 19	NC_000019.10:g.3960820_3960824dup
GRCh37.p13 chr 19	NC_000019.9:g.3960809_3960822del
GRCh37.p13 chr 19	NC_000019.9:g.3960816_3960822del
GRCh37.p13 chr 19	NC_000019.9:g.3960817_3960822del
GRCh37.p13 chr 19	NC_000019.9:g.3960818_3960822del
GRCh37.p13 chr 19	NC_000019.9:g.3960819_3960822del
GRCh37.p13 chr 19	NC_000019.9:g.3960820_3960822del
GRCh37.p13 chr 19	NC_000019.9:g.3960821_3960822del
GRCh37.p13 chr 19	NC_000019.9:g.3960822del
GRCh37.p13 chr 19	NC_000019.9:g.3960822dup
GRCh37.p13 chr 19	NC_000019.9:g.3960821_3960822dup
GRCh37.p13 chr 19	NC_000019.9:g.3960820_3960822dup
GRCh37.p13 chr 19	NC_000019.9:g.3960819_3960822dup
GRCh37.p13 chr 19	NC_000019.9:g.3960818_3960822dup

Gene: DAPK3, death associated protein kinase 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DAPK3 transcript variant 1	NM_001348.3:c.782+192_782… NM_001348.3:c.782+192_782+205del	N/A	Intron Variant
DAPK3 transcript variant 2	NM_001375658.1:c.782+192_… NM_001375658.1:c.782+192_782+205del	N/A	Intron 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	(A)₂₁=	del(A)₁₄	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅
GRCh38.p14 chr 19	NC_000019.10:g.3960804_3960824=	NC_000019.10:g.3960811_3960824del	NC_000019.10:g.3960818_3960824del	NC_000019.10:g.3960819_3960824del	NC_000019.10:g.3960820_3960824del	NC_000019.10:g.3960821_3960824del	NC_000019.10:g.3960822_3960824del	NC_000019.10:g.3960823_3960824del	NC_000019.10:g.3960824del	NC_000019.10:g.3960824dup	NC_000019.10:g.3960823_3960824dup	NC_000019.10:g.3960822_3960824dup	NC_000019.10:g.3960821_3960824dup	NC_000019.10:g.3960820_3960824dup
GRCh37.p13 chr 19	NC_000019.9:g.3960802_3960822=	NC_000019.9:g.3960809_3960822del	NC_000019.9:g.3960816_3960822del	NC_000019.9:g.3960817_3960822del	NC_000019.9:g.3960818_3960822del	NC_000019.9:g.3960819_3960822del	NC_000019.9:g.3960820_3960822del	NC_000019.9:g.3960821_3960822del	NC_000019.9:g.3960822del	NC_000019.9:g.3960822dup	NC_000019.9:g.3960821_3960822dup	NC_000019.9:g.3960820_3960822dup	NC_000019.9:g.3960819_3960822dup	NC_000019.9:g.3960818_3960822dup
DAPK3 transcript	NM_001348.1:c.782+205=	NM_001348.1:c.782+192_782+205del	NM_001348.1:c.782+199_782+205del	NM_001348.1:c.782+200_782+205del	NM_001348.1:c.782+201_782+205del	NM_001348.1:c.782+202_782+205del	NM_001348.1:c.782+203_782+205del	NM_001348.1:c.782+204_782+205del	NM_001348.1:c.782+205del	NM_001348.1:c.782+205dup	NM_001348.1:c.782+204_782+205dup	NM_001348.1:c.782+203_782+205dup	NM_001348.1:c.782+202_782+205dup	NM_001348.1:c.782+201_782+205dup
DAPK3 transcript variant 1	NM_001348.3:c.782+205=	NM_001348.3:c.782+192_782+205del	NM_001348.3:c.782+199_782+205del	NM_001348.3:c.782+200_782+205del	NM_001348.3:c.782+201_782+205del	NM_001348.3:c.782+202_782+205del	NM_001348.3:c.782+203_782+205del	NM_001348.3:c.782+204_782+205del	NM_001348.3:c.782+205del	NM_001348.3:c.782+205dup	NM_001348.3:c.782+204_782+205dup	NM_001348.3:c.782+203_782+205dup	NM_001348.3:c.782+202_782+205dup	NM_001348.3:c.782+201_782+205dup
DAPK3 transcript variant 2	NM_001375658.1:c.782+205=	NM_001375658.1:c.782+192_782+205del	NM_001375658.1:c.782+199_782+205del	NM_001375658.1:c.782+200_782+205del	NM_001375658.1:c.782+201_782+205del	NM_001375658.1:c.782+202_782+205del	NM_001375658.1:c.782+203_782+205del	NM_001375658.1:c.782+204_782+205del	NM_001375658.1:c.782+205del	NM_001375658.1:c.782+205dup	NM_001375658.1:c.782+204_782+205dup	NM_001375658.1:c.782+203_782+205dup	NM_001375658.1:c.782+202_782+205dup	NM_001375658.1:c.782+201_782+205dup
DAPK3 transcript variant X1	XM_005259508.1:c.782+205=	XM_005259508.1:c.782+192_782+205del	XM_005259508.1:c.782+199_782+205del	XM_005259508.1:c.782+200_782+205del	XM_005259508.1:c.782+201_782+205del	XM_005259508.1:c.782+202_782+205del	XM_005259508.1:c.782+203_782+205del	XM_005259508.1:c.782+204_782+205del	XM_005259508.1:c.782+205del	XM_005259508.1:c.782+205dup	XM_005259508.1:c.782+204_782+205dup	XM_005259508.1:c.782+203_782+205dup	XM_005259508.1:c.782+202_782+205dup	XM_005259508.1:c.782+201_782+205dup
DAPK3 transcript variant X2	XM_005259509.1:c.782+205=	XM_005259509.1:c.782+192_782+205del	XM_005259509.1:c.782+199_782+205del	XM_005259509.1:c.782+200_782+205del	XM_005259509.1:c.782+201_782+205del	XM_005259509.1:c.782+202_782+205del	XM_005259509.1:c.782+203_782+205del	XM_005259509.1:c.782+204_782+205del	XM_005259509.1:c.782+205del	XM_005259509.1:c.782+205dup	XM_005259509.1:c.782+204_782+205dup	XM_005259509.1:c.782+203_782+205dup	XM_005259509.1:c.782+202_782+205dup	XM_005259509.1:c.782+201_782+205dup

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#.

53 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41031945	Mar 13, 2006 (126)
2	HUMANGENOME_JCVI	ss95719884	Oct 12, 2018 (152)
3	PJP	ss294951669	May 09, 2011 (135)
4	SSIP	ss947387794	Aug 21, 2014 (142)
5	1000GENOMES	ss1377868051	Aug 21, 2014 (142)
6	EVA_UK10K_ALSPAC	ss1709098507	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1709098509	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1709098510	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1709098581	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1709098582	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1709098583	Apr 01, 2015 (144)
12	SWEGEN	ss3016997805	Nov 17, 2017 (151)
13	URBANLAB	ss3650856177	Oct 12, 2018 (152)
14	EVA_DECODE	ss3702229313	Jul 13, 2019 (153)
15	EVA_DECODE	ss3702229314	Jul 13, 2019 (153)
16	EVA_DECODE	ss3702229315	Jul 13, 2019 (153)
17	EVA_DECODE	ss3702229316	Jul 13, 2019 (153)
18	PACBIO	ss3788451702	Jul 13, 2019 (153)
19	PACBIO	ss3793374360	Jul 13, 2019 (153)
20	PACBIO	ss3798260939	Jul 13, 2019 (153)
21	KHV_HUMAN_GENOMES	ss3821000435	Jul 13, 2019 (153)
22	EVA	ss3835321281	Apr 27, 2020 (154)
23	GNOMAD	ss4326722856	Apr 26, 2021 (155)
24	GNOMAD	ss4326722857	Apr 26, 2021 (155)
25	GNOMAD	ss4326722858	Apr 26, 2021 (155)
26	GNOMAD	ss4326722859	Apr 26, 2021 (155)
27	GNOMAD	ss4326722860	Apr 26, 2021 (155)
28	GNOMAD	ss4326722862	Apr 26, 2021 (155)
29	GNOMAD	ss4326722863	Apr 26, 2021 (155)
30	GNOMAD	ss4326722864	Apr 26, 2021 (155)
31	GNOMAD	ss4326722865	Apr 26, 2021 (155)
32	GNOMAD	ss4326722866	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5226464224	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5226464225	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5226464226	Apr 26, 2021 (155)
36	1000G_HIGH_COVERAGE	ss5306290764	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5306290765	Oct 16, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5306290766	Oct 16, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5306290767	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5498949083	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5498949084	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5498949085	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5498949086	Oct 16, 2022 (156)
44	SANFORD_IMAGENETICS	ss5661866527	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5784647455	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5784647457	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5784647458	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5784647459	Oct 16, 2022 (156)
49	EVA	ss5840177193	Oct 16, 2022 (156)
50	EVA	ss5840177194	Oct 16, 2022 (156)
51	EVA	ss5840177195	Oct 16, 2022 (156)
52	EVA	ss5927088144	Oct 16, 2022 (156)
53	EVA	ss5981025678	Oct 16, 2022 (156)
54	1000Genomes	NC_000019.9 - 3960802	Oct 12, 2018 (152)
55	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 41848591 (NC_000019.9:3960801::A 2271/3854) Row 41848592 (NC_000019.9:3960801::AA 1372/3854) Row 41848593 (NC_000019.9:3960801::AAA 167/3854)	-	Oct 12, 2018 (152)
56	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 41848591 (NC_000019.9:3960801::A 2271/3854) Row 41848592 (NC_000019.9:3960801::AA 1372/3854) Row 41848593 (NC_000019.9:3960801::AAA 167/3854)	-	Oct 12, 2018 (152)
57	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 41848591 (NC_000019.9:3960801::A 2271/3854) Row 41848592 (NC_000019.9:3960801::AA 1372/3854) Row 41848593 (NC_000019.9:3960801::AAA 167/3854)	-	Oct 12, 2018 (152)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532523074 (NC_000019.10:3960803::A 67613/87064) Row 532523075 (NC_000019.10:3960803::AA 2152/86748) Row 532523076 (NC_000019.10:3960803::AAA 47/86974)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532523074 (NC_000019.10:3960803::A 67613/87064) Row 532523075 (NC_000019.10:3960803::AA 2152/86748) Row 532523076 (NC_000019.10:3960803::AAA 47/86974)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532523074 (NC_000019.10:3960803::A 67613/87064) Row 532523075 (NC_000019.10:3960803::AA 2152/86748) Row 532523076 (NC_000019.10:3960803::AAA 47/86974)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532523074 (NC_000019.10:3960803::A 67613/87064) Row 532523075 (NC_000019.10:3960803::AA 2152/86748) Row 532523076 (NC_000019.10:3960803::AAA 47/86974)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532523074 (NC_000019.10:3960803::A 67613/87064) Row 532523075 (NC_000019.10:3960803::AA 2152/86748) Row 532523076 (NC_000019.10:3960803::AAA 47/86974)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532523074 (NC_000019.10:3960803::A 67613/87064) Row 532523075 (NC_000019.10:3960803::AA 2152/86748) Row 532523076 (NC_000019.10:3960803::AAA 47/86974)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532523074 (NC_000019.10:3960803::A 67613/87064) Row 532523075 (NC_000019.10:3960803::AA 2152/86748) Row 532523076 (NC_000019.10:3960803::AAA 47/86974)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532523074 (NC_000019.10:3960803::A 67613/87064) Row 532523075 (NC_000019.10:3960803::AA 2152/86748) Row 532523076 (NC_000019.10:3960803::AAA 47/86974)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532523074 (NC_000019.10:3960803::A 67613/87064) Row 532523075 (NC_000019.10:3960803::AA 2152/86748) Row 532523076 (NC_000019.10:3960803::AAA 47/86974)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532523074 (NC_000019.10:3960803::A 67613/87064) Row 532523075 (NC_000019.10:3960803::AA 2152/86748) Row 532523076 (NC_000019.10:3960803::AAA 47/86974)...	-	Apr 26, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 84433531 (NC_000019.9:3960801::A 12892/15528) Row 84433532 (NC_000019.9:3960801::AA 130/15528) Row 84433533 (NC_000019.9:3960801:A: 58/15528)	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 84433531 (NC_000019.9:3960801::A 12892/15528) Row 84433532 (NC_000019.9:3960801::AA 130/15528) Row 84433533 (NC_000019.9:3960801:A: 58/15528)	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 84433531 (NC_000019.9:3960801::A 12892/15528) Row 84433532 (NC_000019.9:3960801::AA 130/15528) Row 84433533 (NC_000019.9:3960801:A: 58/15528)	-	Apr 26, 2021 (155)
71	14KJPN Submission ignored due to conflicting rows: Row 118484559 (NC_000019.10:3960803::A 22718/27016) Row 118484561 (NC_000019.10:3960803::AA 214/27016) Row 118484562 (NC_000019.10:3960803:A: 105/27016)...	-	Oct 16, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 118484559 (NC_000019.10:3960803::A 22718/27016) Row 118484561 (NC_000019.10:3960803::AA 214/27016) Row 118484562 (NC_000019.10:3960803:A: 105/27016)...	-	Oct 16, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 118484559 (NC_000019.10:3960803::A 22718/27016) Row 118484561 (NC_000019.10:3960803::AA 214/27016) Row 118484562 (NC_000019.10:3960803:A: 105/27016)...	-	Oct 16, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 118484559 (NC_000019.10:3960803::A 22718/27016) Row 118484561 (NC_000019.10:3960803::AA 214/27016) Row 118484562 (NC_000019.10:3960803:A: 105/27016)...	-	Oct 16, 2022 (156)
75	UK 10K study - Twins Submission ignored due to conflicting rows: Row 41848591 (NC_000019.9:3960801::A 2229/3708) Row 41848592 (NC_000019.9:3960801::AA 1311/3708) Row 41848593 (NC_000019.9:3960801::AAA 130/3708)	-	Oct 12, 2018 (152)
76	UK 10K study - Twins Submission ignored due to conflicting rows: Row 41848591 (NC_000019.9:3960801::A 2229/3708) Row 41848592 (NC_000019.9:3960801::AA 1311/3708) Row 41848593 (NC_000019.9:3960801::AAA 130/3708)	-	Oct 12, 2018 (152)
77	UK 10K study - Twins Submission ignored due to conflicting rows: Row 41848591 (NC_000019.9:3960801::A 2229/3708) Row 41848592 (NC_000019.9:3960801::AA 1311/3708) Row 41848593 (NC_000019.9:3960801::AAA 130/3708)	-	Oct 12, 2018 (152)
78	ALFA	NC_000019.10 - 3960804	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)
rs67230754	Feb 26, 2009 (130)
rs67864957	May 11, 2012 (137)
rs67864958	Feb 27, 2009 (130)
rs71166947	May 11, 2012 (137)
rs72132078	May 11, 2012 (137)
rs148421113	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
2853251905	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA	(self)
ss4326722866	NC_000019.10:3960803:AAAAAAA:	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
2853251905	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
2853251905	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
2853251905	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4326722865	NC_000019.10:3960803:AAAA:	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
2853251905	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4326722864, ss5927088144	NC_000019.10:3960803:AAA:	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
2853251905	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3016997805	NC_000019.9:3960801:AA:	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3702229316, ss4326722863, ss5306290767, ss5498949086	NC_000019.10:3960803:AA:	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
2853251905	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5226464226	NC_000019.9:3960801:A:	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4326722862, ss5306290766, ss5498949085, ss5784647458	NC_000019.10:3960803:A:	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
2853251905	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3702229315	NC_000019.10:3960804:A:	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss294951669	NC_000019.8:3911802::A	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
75511339, ss1377868051, ss1709098507, ss1709098581, ss3788451702, ss3793374360, ss3798260939, ss3835321281, ss5226464224, ss5661866527, ss5840177194	NC_000019.9:3960801::A	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3650856177, ss3821000435, ss4326722856, ss5306290764, ss5498949083, ss5784647455	NC_000019.10:3960803::A	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
2853251905	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3702229314	NC_000019.10:3960805::A	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss41031945	NT_011255.14:3900801::A	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss95719884	NT_011255.14:3900822::A	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss947387794, ss1709098509, ss1709098582, ss5226464225, ss5840177193, ss5981025678	NC_000019.9:3960801::AA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4326722857, ss5306290765, ss5498949084, ss5784647457	NC_000019.10:3960803::AA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
2853251905	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3702229313	NC_000019.10:3960805::AA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1709098510, ss1709098583, ss5840177195	NC_000019.9:3960801::AAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4326722858, ss5784647459	NC_000019.10:3960803::AAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
2853251905	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4326722859	NC_000019.10:3960803::AAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4326722860	NC_000019.10:3960803::AAAAA	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3286480083	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAA:	NC_000019.10:3960803:AAAAAAAAAAAAA… NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA

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

No publications for rs34304441

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

rs34304441