Name: rs34622619
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.

rs34622619

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:4496870-4496885 (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 / dupTTT / dup(T)₄ / dup(T)₁₀
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.3400 (1918/5642, ALFA)
dupT=0.4515 (2261/5008, 1000G)
(T)₁₆=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: HDGFL2 : 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	5642	TTTTTTTTTTTTTTTT=0.6599	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.3400, TTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTT=0.0000	0.557801	0.237589	0.20461	32
European	Sub	5084	TTTTTTTTTTTTTTTT=0.6231	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.3767, TTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTT=0.0000	0.510035	0.263282	0.226682	32
African	Sub	292	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	8	TTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	284	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	48	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	32	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	28	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	72	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	28	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	90	TTTTTTTTTTTTTTTT=0.97	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.03, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	0.955556	0.022222	0.022222	11

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	5642	(T)₁₆=0.6599	del(T)₄=0.0000, delT=0.0000, dupT=0.3400, dupTT=0.0002, dupTTT=0.0000
Allele Frequency Aggregator	European	Sub	5084	(T)₁₆=0.6231	del(T)₄=0.0000, delT=0.0000, dupT=0.3767, dupTT=0.0002, dupTTT=0.0000
Allele Frequency Aggregator	African	Sub	292	(T)₁₆=1.000	del(T)₄=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	90	(T)₁₆=0.97	del(T)₄=0.00, delT=0.00, dupT=0.03, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Latin American 2	Sub	72	(T)₁₆=1.00	del(T)₄=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Asian	Sub	48	(T)₁₆=1.00	del(T)₄=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	28	(T)₁₆=1.00	del(T)₄=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	28	(T)₁₆=1.00	del(T)₄=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.4515
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.4985
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.3135
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.5070
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.430
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.512
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=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 19	NC_000019.10:g.4496882_4496885del
GRCh38.p14 chr 19	NC_000019.10:g.4496883_4496885del
GRCh38.p14 chr 19	NC_000019.10:g.4496884_4496885del
GRCh38.p14 chr 19	NC_000019.10:g.4496885del
GRCh38.p14 chr 19	NC_000019.10:g.4496885dup
GRCh38.p14 chr 19	NC_000019.10:g.4496884_4496885dup
GRCh38.p14 chr 19	NC_000019.10:g.4496883_4496885dup
GRCh38.p14 chr 19	NC_000019.10:g.4496882_4496885dup
GRCh38.p14 chr 19	NC_000019.10:g.4496876_4496885dup
GRCh37.p13 chr 19	NC_000019.9:g.4496879_4496882del
GRCh37.p13 chr 19	NC_000019.9:g.4496880_4496882del
GRCh37.p13 chr 19	NC_000019.9:g.4496881_4496882del
GRCh37.p13 chr 19	NC_000019.9:g.4496882del
GRCh37.p13 chr 19	NC_000019.9:g.4496882dup
GRCh37.p13 chr 19	NC_000019.9:g.4496881_4496882dup
GRCh37.p13 chr 19	NC_000019.9:g.4496880_4496882dup
GRCh37.p13 chr 19	NC_000019.9:g.4496879_4496882dup
GRCh37.p13 chr 19	NC_000019.9:g.4496873_4496882dup

Gene: HDGFL2, HDGF like 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
HDGFL2 transcript variant 1	NM_001001520.3:c.1328+477… NM_001001520.3:c.1328+477_1328+480del	N/A	Intron Variant
HDGFL2 transcript variant 3	NM_001348169.2:c.1400+477… NM_001348169.2:c.1400+477_1400+480del	N/A	Intron Variant
HDGFL2 transcript variant 2	NM_032631.4:c.1328+477_13… NM_032631.4:c.1328+477_1328+480del	N/A	Intron Variant
HDGFL2 transcript variant X2	XM_011528376.4:c.1397+477… XM_011528376.4:c.1397+477_1397+480del	N/A	Intron Variant
HDGFL2 transcript variant X1	XM_011528377.4:c.1400+477… XM_011528377.4:c.1400+477_1400+480del	N/A	Intron Variant
HDGFL2 transcript variant X3	XM_047439547.1:c.1325+477… XM_047439547.1:c.1325+477_1325+480del	N/A	Intron Variant
HDGFL2 transcript variant X4	XM_047439548.1:c.1325+477… XM_047439548.1:c.1325+477_1325+480del	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	(T)₁₆=	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₁₀
GRCh38.p14 chr 19	NC_000019.10:g.4496870_4496885=	NC_000019.10:g.4496882_4496885del	NC_000019.10:g.4496883_4496885del	NC_000019.10:g.4496884_4496885del	NC_000019.10:g.4496885del	NC_000019.10:g.4496885dup	NC_000019.10:g.4496884_4496885dup	NC_000019.10:g.4496883_4496885dup	NC_000019.10:g.4496882_4496885dup	NC_000019.10:g.4496876_4496885dup
GRCh37.p13 chr 19	NC_000019.9:g.4496867_4496882=	NC_000019.9:g.4496879_4496882del	NC_000019.9:g.4496880_4496882del	NC_000019.9:g.4496881_4496882del	NC_000019.9:g.4496882del	NC_000019.9:g.4496882dup	NC_000019.9:g.4496881_4496882dup	NC_000019.9:g.4496880_4496882dup	NC_000019.9:g.4496879_4496882dup	NC_000019.9:g.4496873_4496882dup
HDGFRP2 transcript variant 1	NM_001001520.1:c.1328+465=	NM_001001520.1:c.1328+477_1328+480del	NM_001001520.1:c.1328+478_1328+480del	NM_001001520.1:c.1328+479_1328+480del	NM_001001520.1:c.1328+480del	NM_001001520.1:c.1328+480dup	NM_001001520.1:c.1328+479_1328+480dup	NM_001001520.1:c.1328+478_1328+480dup	NM_001001520.1:c.1328+477_1328+480dup	NM_001001520.1:c.1328+471_1328+480dup
HDGFL2 transcript variant 1	NM_001001520.3:c.1328+465=	NM_001001520.3:c.1328+477_1328+480del	NM_001001520.3:c.1328+478_1328+480del	NM_001001520.3:c.1328+479_1328+480del	NM_001001520.3:c.1328+480del	NM_001001520.3:c.1328+480dup	NM_001001520.3:c.1328+479_1328+480dup	NM_001001520.3:c.1328+478_1328+480dup	NM_001001520.3:c.1328+477_1328+480dup	NM_001001520.3:c.1328+471_1328+480dup
HDGFL2 transcript variant 3	NM_001348169.2:c.1400+465=	NM_001348169.2:c.1400+477_1400+480del	NM_001348169.2:c.1400+478_1400+480del	NM_001348169.2:c.1400+479_1400+480del	NM_001348169.2:c.1400+480del	NM_001348169.2:c.1400+480dup	NM_001348169.2:c.1400+479_1400+480dup	NM_001348169.2:c.1400+478_1400+480dup	NM_001348169.2:c.1400+477_1400+480dup	NM_001348169.2:c.1400+471_1400+480dup
HDGFRP2 transcript variant 2	NM_032631.2:c.1328+465=	NM_032631.2:c.1328+477_1328+480del	NM_032631.2:c.1328+478_1328+480del	NM_032631.2:c.1328+479_1328+480del	NM_032631.2:c.1328+480del	NM_032631.2:c.1328+480dup	NM_032631.2:c.1328+479_1328+480dup	NM_032631.2:c.1328+478_1328+480dup	NM_032631.2:c.1328+477_1328+480dup	NM_032631.2:c.1328+471_1328+480dup
HDGFL2 transcript variant 2	NM_032631.4:c.1328+465=	NM_032631.4:c.1328+477_1328+480del	NM_032631.4:c.1328+478_1328+480del	NM_032631.4:c.1328+479_1328+480del	NM_032631.4:c.1328+480del	NM_032631.4:c.1328+480dup	NM_032631.4:c.1328+479_1328+480dup	NM_032631.4:c.1328+478_1328+480dup	NM_032631.4:c.1328+477_1328+480dup	NM_032631.4:c.1328+471_1328+480dup
HDGFL2 transcript variant X2	XM_011528376.4:c.1397+465=	XM_011528376.4:c.1397+477_1397+480del	XM_011528376.4:c.1397+478_1397+480del	XM_011528376.4:c.1397+479_1397+480del	XM_011528376.4:c.1397+480del	XM_011528376.4:c.1397+480dup	XM_011528376.4:c.1397+479_1397+480dup	XM_011528376.4:c.1397+478_1397+480dup	XM_011528376.4:c.1397+477_1397+480dup	XM_011528376.4:c.1397+471_1397+480dup
HDGFL2 transcript variant X1	XM_011528377.4:c.1400+465=	XM_011528377.4:c.1400+477_1400+480del	XM_011528377.4:c.1400+478_1400+480del	XM_011528377.4:c.1400+479_1400+480del	XM_011528377.4:c.1400+480del	XM_011528377.4:c.1400+480dup	XM_011528377.4:c.1400+479_1400+480dup	XM_011528377.4:c.1400+478_1400+480dup	XM_011528377.4:c.1400+477_1400+480dup	XM_011528377.4:c.1400+471_1400+480dup
HDGFL2 transcript variant X3	XM_047439547.1:c.1325+465=	XM_047439547.1:c.1325+477_1325+480del	XM_047439547.1:c.1325+478_1325+480del	XM_047439547.1:c.1325+479_1325+480del	XM_047439547.1:c.1325+480del	XM_047439547.1:c.1325+480dup	XM_047439547.1:c.1325+479_1325+480dup	XM_047439547.1:c.1325+478_1325+480dup	XM_047439547.1:c.1325+477_1325+480dup	XM_047439547.1:c.1325+471_1325+480dup
HDGFL2 transcript variant X4	XM_047439548.1:c.1325+465=	XM_047439548.1:c.1325+477_1325+480del	XM_047439548.1:c.1325+478_1325+480del	XM_047439548.1:c.1325+479_1325+480del	XM_047439548.1:c.1325+480del	XM_047439548.1:c.1325+480dup	XM_047439548.1:c.1325+479_1325+480dup	XM_047439548.1:c.1325+478_1325+480dup	XM_047439548.1:c.1325+477_1325+480dup	XM_047439548.1:c.1325+471_1325+480dup

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#.

48 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40998792	Oct 12, 2018 (152)
2	HUMANGENOME_JCVI	ss96277223	Feb 13, 2009 (130)
3	PJP	ss294951825	May 09, 2011 (137)
4	BILGI_BIOE	ss666722593	Apr 25, 2013 (138)
5	1000GENOMES	ss1377875945	Aug 21, 2014 (142)
6	EVA_GENOME_DK	ss1575223967	Apr 01, 2015 (144)
7	EVA_EXAC	ss1712179186	Apr 01, 2015 (144)
8	EVA_EXAC	ss1712179187	Jan 10, 2018 (151)
9	EVA_EXAC	ss1712179188	Apr 01, 2015 (144)
10	EVA_EXAC	ss1712179189	Apr 01, 2015 (144)
11	EVA_EXAC	ss1712179190	Apr 01, 2015 (144)
12	EVA_EXAC	ss1712179191	Apr 01, 2015 (144)
13	SYSTEMSBIOZJU	ss2629265171	Nov 08, 2017 (151)
14	SWEGEN	ss3017006457	Nov 08, 2017 (151)
15	MCHAISSO	ss3065697400	Nov 08, 2017 (151)
16	EVA_DECODE	ss3702238994	Jul 13, 2019 (153)
17	EVA_DECODE	ss3702238995	Jul 13, 2019 (153)
18	EVA_DECODE	ss3702238996	Jul 13, 2019 (153)
19	EVA_DECODE	ss3702238997	Jul 13, 2019 (153)
20	PACBIO	ss3788452971	Jul 13, 2019 (153)
21	PACBIO	ss3793375435	Jul 13, 2019 (153)
22	PACBIO	ss3798262016	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3821005931	Jul 13, 2019 (153)
24	EVA	ss3835323688	Apr 27, 2020 (154)
25	FSA-LAB	ss3984139876	Apr 26, 2021 (155)
26	GNOMAD	ss4326804815	Apr 26, 2021 (155)
27	GNOMAD	ss4326804816	Apr 26, 2021 (155)
28	GNOMAD	ss4326804817	Apr 26, 2021 (155)
29	GNOMAD	ss4326804818	Apr 26, 2021 (155)
30	GNOMAD	ss4326804819	Apr 26, 2021 (155)
31	GNOMAD	ss4326804820	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5226489034	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5226489035	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5226489036	Apr 26, 2021 (155)
35	1000G_HIGH_COVERAGE	ss5306309040	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5306309041	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5306309042	Oct 16, 2022 (156)
38	HUGCELL_USP	ss5498963644	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5498963645	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5498963646	Oct 16, 2022 (156)
41	TOMMO_GENOMICS	ss5784681964	Oct 16, 2022 (156)
42	TOMMO_GENOMICS	ss5784681965	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5784681966	Oct 16, 2022 (156)
44	EVA	ss5840183974	Oct 16, 2022 (156)
45	EVA	ss5840183975	Oct 16, 2022 (156)
46	EVA	ss5840183976	Oct 16, 2022 (156)
47	EVA	ss5852183900	Oct 16, 2022 (156)
48	EVA	ss5927107010	Oct 16, 2022 (156)
49	1000Genomes	NC_000019.9 - 4496867	Oct 12, 2018 (152)
50	ExAC Submission ignored due to conflicting rows: Row 3760119 (NC_000019.9:4496866:TTT: 1/202) Row 3760120 (NC_000019.9:4496866:TT: 5/202) Row 3760121 (NC_000019.9:4496866:T: 10/202) Row 3760122 (NC_000019.9:4496866::T 14/202) Row 3760123 (NC_000019.9:4496866::TT 3/202) Row 3760124 (NC_000019.9:4496866::TTT 1/202)	-	Oct 12, 2018 (152)
51	ExAC Submission ignored due to conflicting rows: Row 3760119 (NC_000019.9:4496866:TTT: 1/202) Row 3760120 (NC_000019.9:4496866:TT: 5/202) Row 3760121 (NC_000019.9:4496866:T: 10/202) Row 3760122 (NC_000019.9:4496866::T 14/202) Row 3760123 (NC_000019.9:4496866::TT 3/202) Row 3760124 (NC_000019.9:4496866::TTT 1/202)	-	Oct 12, 2018 (152)
52	ExAC Submission ignored due to conflicting rows: Row 3760119 (NC_000019.9:4496866:TTT: 1/202) Row 3760120 (NC_000019.9:4496866:TT: 5/202) Row 3760121 (NC_000019.9:4496866:T: 10/202) Row 3760122 (NC_000019.9:4496866::T 14/202) Row 3760123 (NC_000019.9:4496866::TT 3/202) Row 3760124 (NC_000019.9:4496866::TTT 1/202)	-	Oct 12, 2018 (152)
53	ExAC Submission ignored due to conflicting rows: Row 3760119 (NC_000019.9:4496866:TTT: 1/202) Row 3760120 (NC_000019.9:4496866:TT: 5/202) Row 3760121 (NC_000019.9:4496866:T: 10/202) Row 3760122 (NC_000019.9:4496866::T 14/202) Row 3760123 (NC_000019.9:4496866::TT 3/202) Row 3760124 (NC_000019.9:4496866::TTT 1/202)	-	Oct 12, 2018 (152)
54	ExAC Submission ignored due to conflicting rows: Row 3760119 (NC_000019.9:4496866:TTT: 1/202) Row 3760120 (NC_000019.9:4496866:TT: 5/202) Row 3760121 (NC_000019.9:4496866:T: 10/202) Row 3760122 (NC_000019.9:4496866::T 14/202) Row 3760123 (NC_000019.9:4496866::TT 3/202) Row 3760124 (NC_000019.9:4496866::TTT 1/202)	-	Oct 12, 2018 (152)
55	ExAC Submission ignored due to conflicting rows: Row 3760119 (NC_000019.9:4496866:TTT: 1/202) Row 3760120 (NC_000019.9:4496866:TT: 5/202) Row 3760121 (NC_000019.9:4496866:T: 10/202) Row 3760122 (NC_000019.9:4496866::T 14/202) Row 3760123 (NC_000019.9:4496866::TT 3/202) Row 3760124 (NC_000019.9:4496866::TTT 1/202)	-	Oct 12, 2018 (152)
56	The Danish reference pan genome	NC_000019.9 - 4496867	Apr 27, 2020 (154)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532664989 (NC_000019.10:4496869::T 82924/126240) Row 532664990 (NC_000019.10:4496869::TT 545/126272) Row 532664991 (NC_000019.10:4496869::TTT 5/126298)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532664989 (NC_000019.10:4496869::T 82924/126240) Row 532664990 (NC_000019.10:4496869::TT 545/126272) Row 532664991 (NC_000019.10:4496869::TTT 5/126298)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532664989 (NC_000019.10:4496869::T 82924/126240) Row 532664990 (NC_000019.10:4496869::TT 545/126272) Row 532664991 (NC_000019.10:4496869::TTT 5/126298)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532664989 (NC_000019.10:4496869::T 82924/126240) Row 532664990 (NC_000019.10:4496869::TT 545/126272) Row 532664991 (NC_000019.10:4496869::TTT 5/126298)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532664989 (NC_000019.10:4496869::T 82924/126240) Row 532664990 (NC_000019.10:4496869::TT 545/126272) Row 532664991 (NC_000019.10:4496869::TTT 5/126298)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532664989 (NC_000019.10:4496869::T 82924/126240) Row 532664990 (NC_000019.10:4496869::TT 545/126272) Row 532664991 (NC_000019.10:4496869::TTT 5/126298)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532664989 (NC_000019.10:4496869::T 82924/126240) Row 532664990 (NC_000019.10:4496869::TT 545/126272) Row 532664991 (NC_000019.10:4496869::TTT 5/126298)...	-	Apr 26, 2021 (155)
64	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12806922 (NC_000019.9:4496866::T 14457/36566) Row 12806923 (NC_000019.9:4496866::TT 2690/36566) Row 12806924 (NC_000019.9:4496866::TTT 311/36566)...	-	Jul 13, 2019 (153)
65	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12806922 (NC_000019.9:4496866::T 14457/36566) Row 12806923 (NC_000019.9:4496866::TT 2690/36566) Row 12806924 (NC_000019.9:4496866::TTT 311/36566)...	-	Jul 13, 2019 (153)
66	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12806922 (NC_000019.9:4496866::T 14457/36566) Row 12806923 (NC_000019.9:4496866::TT 2690/36566) Row 12806924 (NC_000019.9:4496866::TTT 311/36566)...	-	Jul 13, 2019 (153)
67	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12806922 (NC_000019.9:4496866::T 14457/36566) Row 12806923 (NC_000019.9:4496866::TT 2690/36566) Row 12806924 (NC_000019.9:4496866::TTT 311/36566)...	-	Jul 13, 2019 (153)
68	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12806922 (NC_000019.9:4496866::T 14457/36566) Row 12806923 (NC_000019.9:4496866::TT 2690/36566) Row 12806924 (NC_000019.9:4496866::TTT 311/36566)...	-	Jul 13, 2019 (153)
69	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12806922 (NC_000019.9:4496866::T 14457/36566) Row 12806923 (NC_000019.9:4496866::TT 2690/36566) Row 12806924 (NC_000019.9:4496866::TTT 311/36566)...	-	Jul 13, 2019 (153)
70	8.3KJPN Submission ignored due to conflicting rows: Row 84458341 (NC_000019.9:4496866::T 5806/16582) Row 84458342 (NC_000019.9:4496866:T: 16/16582) Row 84458343 (NC_000019.9:4496866::TT 71/16582)	-	Apr 26, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 84458341 (NC_000019.9:4496866::T 5806/16582) Row 84458342 (NC_000019.9:4496866:T: 16/16582) Row 84458343 (NC_000019.9:4496866::TT 71/16582)	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 84458341 (NC_000019.9:4496866::T 5806/16582) Row 84458342 (NC_000019.9:4496866:T: 16/16582) Row 84458343 (NC_000019.9:4496866::TT 71/16582)	-	Apr 26, 2021 (155)
73	14KJPN Submission ignored due to conflicting rows: Row 118519068 (NC_000019.10:4496869::T 10386/28238) Row 118519069 (NC_000019.10:4496869:T: 20/28238) Row 118519070 (NC_000019.10:4496869::TT 119/28238)	-	Oct 16, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 118519068 (NC_000019.10:4496869::T 10386/28238) Row 118519069 (NC_000019.10:4496869:T: 20/28238) Row 118519070 (NC_000019.10:4496869::TT 119/28238)	-	Oct 16, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 118519068 (NC_000019.10:4496869::T 10386/28238) Row 118519069 (NC_000019.10:4496869:T: 20/28238) Row 118519070 (NC_000019.10:4496869::TT 119/28238)	-	Oct 16, 2022 (156)
76	ALFA	NC_000019.10 - 4496870	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)
rs34639607	May 11, 2012 (137)
rs71826633	May 11, 2012 (137)
rs146508067	May 11, 2012 (137)
rs796933801	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
2242433057	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss1712179191	NC_000019.9:4496866:TTT:	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4326804820	NC_000019.10:4496869:TTT:	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss1712179187	NC_000019.9:4496866:TT:	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4326804819	NC_000019.10:4496869:TT:	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss1712179186, ss5226489035	NC_000019.9:4496866:T:	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3702238994, ss5306309041, ss5498963646, ss5784681965	NC_000019.10:4496869:T:	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
2242433057	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss294951825	NC_000019.8:4447867::T	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
75531071, 616202, ss666722593, ss1377875945, ss1575223967, ss1712179188, ss2629265171, ss3017006457, ss3788452971, ss3793375435, ss3798262016, ss3835323688, ss3984139876, ss5226489034, ss5840183974	NC_000019.9:4496866::T	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3065697400, ss3821005931, ss4326804815, ss5306309040, ss5498963644, ss5784681964, ss5852183900, ss5927107010	NC_000019.10:4496869::T	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
2242433057	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3702238995	NC_000019.10:4496870::T	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss96277223	NT_011255.14:4436866::T	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss40998792	NT_011255.14:4436882::T	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss1712179189, ss5226489036, ss5840183975	NC_000019.9:4496866::TT	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4326804816, ss5306309042, ss5498963645, ss5784681966	NC_000019.10:4496869::TT	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
2242433057	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3702238996	NC_000019.10:4496870::TT	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss1712179190, ss5840183976	NC_000019.9:4496866::TTT	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4326804817	NC_000019.10:4496869::TTT	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
2242433057	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4326804818	NC_000019.10:4496869::TTTT	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3702238997	NC_000019.10:4496870::TTTTTTTTTT	NC_000019.10:4496869:TTTTTTTTTTTTT… NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs34622619

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

rs34622619