Name: rs34619047
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.

rs34619047

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:27530068-27530080 (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)₇ / dup(T)₁₂
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.27751 (4651/16760, 8.3KJPN)
delT=0.04396 (476/10828, ALFA)
delT=0.3630 (1818/5008, 1000G) (+ 4 more)
delT=0.1596 (615/3854, ALSPAC)
delT=0.1750 (649/3708, TWINSUK)
delT=0.097 (58/598, NorthernSweden)
delT=0.25 (10/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: EPHX2 : 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	10828	TTTTTTTTTTTTT=0.95456	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.04396, TTTTTTTTTTTTTT=0.00148	0.917933	0.005928	0.076139	26
European	Sub	9644	TTTTTTTTTTTTT=0.9491	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0493, TTTTTTTTTTTTTT=0.0017	0.908032	0.006658	0.08531	21
African	Sub	286	TTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	8	TTTTTTTTTTTTT=1.0	TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	278	TTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	80	TTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	64	TTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	TTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	60	TTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	438	TTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	68	TTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	252	TTTTTTTTTTTTT=0.996	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.004, TTTTTTTTTTTTTT=0.000	0.992063	0.0	0.007937	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
8.3KJPN	JAPANESE	Study-wide	16760	(T)₁₃=0.72249	delT=0.27751
Allele Frequency Aggregator	Total	Global	10828	(T)₁₃=0.95456	del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.04396, dupT=0.00148
Allele Frequency Aggregator	European	Sub	9644	(T)₁₃=0.9491	del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0493, dupT=0.0017
Allele Frequency Aggregator	Latin American 2	Sub	438	(T)₁₃=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator	African	Sub	286	(T)₁₃=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator	Other	Sub	252	(T)₁₃=0.996	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.004, dupT=0.000
Allele Frequency Aggregator	Asian	Sub	80	(T)₁₃=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator	South Asian	Sub	68	(T)₁₃=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	60	(T)₁₃=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₃=0.6370	delT=0.3630
1000Genomes	African	Sub	1322	(T)₁₃=0.2292	delT=0.7708
1000Genomes	East Asian	Sub	1008	(T)₁₃=0.7937	delT=0.2063
1000Genomes	Europe	Sub	1006	(T)₁₃=0.8141	delT=0.1859
1000Genomes	South Asian	Sub	978	(T)₁₃=0.756	delT=0.244
1000Genomes	American	Sub	694	(T)₁₃=0.762	delT=0.238
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(T)₁₃=0.8404	delT=0.1596
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(T)₁₃=0.8250	delT=0.1750
Northern Sweden	ACPOP	Study-wide	598	(T)₁₃=0.903	delT=0.097
The Danish reference pan genome	Danish	Study-wide	40	(T)₁₃=0.75	delT=0.25

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 8	NC_000008.11:g.27530077_27530080del
GRCh38.p14 chr 8	NC_000008.11:g.27530078_27530080del
GRCh38.p14 chr 8	NC_000008.11:g.27530079_27530080del
GRCh38.p14 chr 8	NC_000008.11:g.27530080del
GRCh38.p14 chr 8	NC_000008.11:g.27530080dup
GRCh38.p14 chr 8	NC_000008.11:g.27530079_27530080dup
GRCh38.p14 chr 8	NC_000008.11:g.27530078_27530080dup
GRCh38.p14 chr 8	NC_000008.11:g.27530077_27530080dup
GRCh38.p14 chr 8	NC_000008.11:g.27530074_27530080dup
GRCh38.p14 chr 8	NC_000008.11:g.27530069_27530080dup
GRCh37.p13 chr 8	NC_000008.10:g.27387594_27387597del
GRCh37.p13 chr 8	NC_000008.10:g.27387595_27387597del
GRCh37.p13 chr 8	NC_000008.10:g.27387596_27387597del
GRCh37.p13 chr 8	NC_000008.10:g.27387597del
GRCh37.p13 chr 8	NC_000008.10:g.27387597dup
GRCh37.p13 chr 8	NC_000008.10:g.27387596_27387597dup
GRCh37.p13 chr 8	NC_000008.10:g.27387595_27387597dup
GRCh37.p13 chr 8	NC_000008.10:g.27387594_27387597dup
GRCh37.p13 chr 8	NC_000008.10:g.27387591_27387597dup
GRCh37.p13 chr 8	NC_000008.10:g.27387586_27387597dup
EPHX2 RefSeqGene	NG_012064.1:g.43950_43953del
EPHX2 RefSeqGene	NG_012064.1:g.43951_43953del
EPHX2 RefSeqGene	NG_012064.1:g.43952_43953del
EPHX2 RefSeqGene	NG_012064.1:g.43953del
EPHX2 RefSeqGene	NG_012064.1:g.43953dup
EPHX2 RefSeqGene	NG_012064.1:g.43952_43953dup
EPHX2 RefSeqGene	NG_012064.1:g.43951_43953dup
EPHX2 RefSeqGene	NG_012064.1:g.43950_43953dup
EPHX2 RefSeqGene	NG_012064.1:g.43947_43953dup
EPHX2 RefSeqGene	NG_012064.1:g.43942_43953dup

Gene: EPHX2, epoxide hydrolase 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EPHX2 transcript variant 2	NM_001256482.2:c.1011+460… NM_001256482.2:c.1011+4604_1011+4607del	N/A	Intron Variant
EPHX2 transcript variant 3	NM_001256483.2:c.972+4604… NM_001256483.2:c.972+4604_972+4607del	N/A	Intron Variant
EPHX2 transcript variant 4	NM_001256484.2:c.1011+460… NM_001256484.2:c.1011+4604_1011+4607del	N/A	Intron Variant
EPHX2 transcript variant 1	NM_001979.6:c.1170+4604_1… NM_001979.6:c.1170+4604_1170+4607del	N/A	Intron Variant
EPHX2 transcript variant X1	XM_017013199.2:c.1047+460… XM_017013199.2:c.1047+4604_1047+4607del	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)₁₃=	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₇	dup(T)₁₂
GRCh38.p14 chr 8	NC_000008.11:g.27530068_27530080=	NC_000008.11:g.27530077_27530080del	NC_000008.11:g.27530078_27530080del	NC_000008.11:g.27530079_27530080del	NC_000008.11:g.27530080del	NC_000008.11:g.27530080dup	NC_000008.11:g.27530079_27530080dup	NC_000008.11:g.27530078_27530080dup	NC_000008.11:g.27530077_27530080dup	NC_000008.11:g.27530074_27530080dup	NC_000008.11:g.27530069_27530080dup
GRCh37.p13 chr 8	NC_000008.10:g.27387585_27387597=	NC_000008.10:g.27387594_27387597del	NC_000008.10:g.27387595_27387597del	NC_000008.10:g.27387596_27387597del	NC_000008.10:g.27387597del	NC_000008.10:g.27387597dup	NC_000008.10:g.27387596_27387597dup	NC_000008.10:g.27387595_27387597dup	NC_000008.10:g.27387594_27387597dup	NC_000008.10:g.27387591_27387597dup	NC_000008.10:g.27387586_27387597dup
EPHX2 RefSeqGene	NG_012064.1:g.43941_43953=	NG_012064.1:g.43950_43953del	NG_012064.1:g.43951_43953del	NG_012064.1:g.43952_43953del	NG_012064.1:g.43953del	NG_012064.1:g.43953dup	NG_012064.1:g.43952_43953dup	NG_012064.1:g.43951_43953dup	NG_012064.1:g.43950_43953dup	NG_012064.1:g.43947_43953dup	NG_012064.1:g.43942_43953dup
EPHX2 transcript variant 2	NM_001256482.1:c.1011+4595=	NM_001256482.1:c.1011+4604_1011+4607del	NM_001256482.1:c.1011+4605_1011+4607del	NM_001256482.1:c.1011+4606_1011+4607del	NM_001256482.1:c.1011+4607del	NM_001256482.1:c.1011+4607dup	NM_001256482.1:c.1011+4606_1011+4607dup	NM_001256482.1:c.1011+4605_1011+4607dup	NM_001256482.1:c.1011+4604_1011+4607dup	NM_001256482.1:c.1011+4601_1011+4607dup	NM_001256482.1:c.1011+4596_1011+4607dup
EPHX2 transcript variant 2	NM_001256482.2:c.1011+4595=	NM_001256482.2:c.1011+4604_1011+4607del	NM_001256482.2:c.1011+4605_1011+4607del	NM_001256482.2:c.1011+4606_1011+4607del	NM_001256482.2:c.1011+4607del	NM_001256482.2:c.1011+4607dup	NM_001256482.2:c.1011+4606_1011+4607dup	NM_001256482.2:c.1011+4605_1011+4607dup	NM_001256482.2:c.1011+4604_1011+4607dup	NM_001256482.2:c.1011+4601_1011+4607dup	NM_001256482.2:c.1011+4596_1011+4607dup
EPHX2 transcript variant 3	NM_001256483.1:c.972+4595=	NM_001256483.1:c.972+4604_972+4607del	NM_001256483.1:c.972+4605_972+4607del	NM_001256483.1:c.972+4606_972+4607del	NM_001256483.1:c.972+4607del	NM_001256483.1:c.972+4607dup	NM_001256483.1:c.972+4606_972+4607dup	NM_001256483.1:c.972+4605_972+4607dup	NM_001256483.1:c.972+4604_972+4607dup	NM_001256483.1:c.972+4601_972+4607dup	NM_001256483.1:c.972+4596_972+4607dup
EPHX2 transcript variant 3	NM_001256483.2:c.972+4595=	NM_001256483.2:c.972+4604_972+4607del	NM_001256483.2:c.972+4605_972+4607del	NM_001256483.2:c.972+4606_972+4607del	NM_001256483.2:c.972+4607del	NM_001256483.2:c.972+4607dup	NM_001256483.2:c.972+4606_972+4607dup	NM_001256483.2:c.972+4605_972+4607dup	NM_001256483.2:c.972+4604_972+4607dup	NM_001256483.2:c.972+4601_972+4607dup	NM_001256483.2:c.972+4596_972+4607dup
EPHX2 transcript variant 4	NM_001256484.1:c.1011+4595=	NM_001256484.1:c.1011+4604_1011+4607del	NM_001256484.1:c.1011+4605_1011+4607del	NM_001256484.1:c.1011+4606_1011+4607del	NM_001256484.1:c.1011+4607del	NM_001256484.1:c.1011+4607dup	NM_001256484.1:c.1011+4606_1011+4607dup	NM_001256484.1:c.1011+4605_1011+4607dup	NM_001256484.1:c.1011+4604_1011+4607dup	NM_001256484.1:c.1011+4601_1011+4607dup	NM_001256484.1:c.1011+4596_1011+4607dup
EPHX2 transcript variant 4	NM_001256484.2:c.1011+4595=	NM_001256484.2:c.1011+4604_1011+4607del	NM_001256484.2:c.1011+4605_1011+4607del	NM_001256484.2:c.1011+4606_1011+4607del	NM_001256484.2:c.1011+4607del	NM_001256484.2:c.1011+4607dup	NM_001256484.2:c.1011+4606_1011+4607dup	NM_001256484.2:c.1011+4605_1011+4607dup	NM_001256484.2:c.1011+4604_1011+4607dup	NM_001256484.2:c.1011+4601_1011+4607dup	NM_001256484.2:c.1011+4596_1011+4607dup
EPHX2 transcript variant 1	NM_001979.5:c.1170+4595=	NM_001979.5:c.1170+4604_1170+4607del	NM_001979.5:c.1170+4605_1170+4607del	NM_001979.5:c.1170+4606_1170+4607del	NM_001979.5:c.1170+4607del	NM_001979.5:c.1170+4607dup	NM_001979.5:c.1170+4606_1170+4607dup	NM_001979.5:c.1170+4605_1170+4607dup	NM_001979.5:c.1170+4604_1170+4607dup	NM_001979.5:c.1170+4601_1170+4607dup	NM_001979.5:c.1170+4596_1170+4607dup
EPHX2 transcript variant 1	NM_001979.6:c.1170+4595=	NM_001979.6:c.1170+4604_1170+4607del	NM_001979.6:c.1170+4605_1170+4607del	NM_001979.6:c.1170+4606_1170+4607del	NM_001979.6:c.1170+4607del	NM_001979.6:c.1170+4607dup	NM_001979.6:c.1170+4606_1170+4607dup	NM_001979.6:c.1170+4605_1170+4607dup	NM_001979.6:c.1170+4604_1170+4607dup	NM_001979.6:c.1170+4601_1170+4607dup	NM_001979.6:c.1170+4596_1170+4607dup
EPHX2 transcript variant X1	XM_017013199.2:c.1047+4595=	XM_017013199.2:c.1047+4604_1047+4607del	XM_017013199.2:c.1047+4605_1047+4607del	XM_017013199.2:c.1047+4606_1047+4607del	XM_017013199.2:c.1047+4607del	XM_017013199.2:c.1047+4607dup	XM_017013199.2:c.1047+4606_1047+4607dup	XM_017013199.2:c.1047+4605_1047+4607dup	XM_017013199.2:c.1047+4604_1047+4607dup	XM_017013199.2:c.1047+4601_1047+4607dup	XM_017013199.2:c.1047+4596_1047+4607dup

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#.

40 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81711722	Dec 15, 2007 (137)
2	HGSV	ss82376146	Dec 15, 2007 (137)
3	BUSHMAN	ss193968819	Jul 04, 2010 (137)
4	SSMP	ss663846416	Apr 01, 2015 (144)
5	BILGI_BIOE	ss666432672	Apr 25, 2013 (138)
6	1000GENOMES	ss1367879970	Aug 21, 2014 (142)
7	EVA_GENOME_DK	ss1577178596	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1705992278	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1705992350	Apr 01, 2015 (144)
10	SWEGEN	ss3002899892	Nov 08, 2017 (151)
11	MCHAISSO	ss3065180270	Nov 08, 2017 (151)
12	MCHAISSO	ss3066194382	Nov 08, 2017 (151)
13	BEROUKHIMLAB	ss3644258629	Oct 12, 2018 (152)
14	EVA_DECODE	ss3721678220	Jul 13, 2019 (153)
15	EVA_DECODE	ss3721678221	Jul 13, 2019 (153)
16	EVA_DECODE	ss3721678222	Jul 13, 2019 (153)
17	ACPOP	ss3735520573	Jul 13, 2019 (153)
18	KHV_HUMAN_GENOMES	ss3810955470	Jul 13, 2019 (153)
19	EVA	ss3831086242	Apr 26, 2020 (154)
20	EVA	ss3839052670	Apr 26, 2020 (154)
21	EVA	ss3844510953	Apr 26, 2020 (154)
22	KOGIC	ss3963524208	Apr 26, 2020 (154)
23	KOGIC	ss3963524209	Apr 26, 2020 (154)
24	GNOMAD	ss4181338916	Apr 26, 2021 (155)
25	GNOMAD	ss4181338917	Apr 26, 2021 (155)
26	GNOMAD	ss4181338918	Apr 26, 2021 (155)
27	GNOMAD	ss4181338919	Apr 26, 2021 (155)
28	GNOMAD	ss4181338920	Apr 26, 2021 (155)
29	GNOMAD	ss4181338921	Apr 26, 2021 (155)
30	GNOMAD	ss4181338922	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5187919315	Apr 26, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5276539666	Oct 16, 2022 (156)
33	HUGCELL_USP	ss5473170837	Oct 16, 2022 (156)
34	HUGCELL_USP	ss5473170838	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5729613420	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5729613421	Oct 16, 2022 (156)
37	EVA	ss5830306591	Oct 16, 2022 (156)
38	EVA	ss5856313103	Oct 16, 2022 (156)
39	EVA	ss5888266180	Oct 16, 2022 (156)
40	EVA	ss5974230850	Oct 16, 2022 (156)
41	1000Genomes	NC_000008.10 - 27387585	Oct 12, 2018 (152)
42	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 27387585	Oct 12, 2018 (152)
43	The Danish reference pan genome	NC_000008.10 - 27387585	Apr 26, 2020 (154)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 290899075 (NC_000008.11:27530067::T 527/133082) Row 290899076 (NC_000008.11:27530067::TT 2/133148) Row 290899077 (NC_000008.11:27530067::TTTT 1/133154)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 290899075 (NC_000008.11:27530067::T 527/133082) Row 290899076 (NC_000008.11:27530067::TT 2/133148) Row 290899077 (NC_000008.11:27530067::TTTT 1/133154)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 290899075 (NC_000008.11:27530067::T 527/133082) Row 290899076 (NC_000008.11:27530067::TT 2/133148) Row 290899077 (NC_000008.11:27530067::TTTT 1/133154)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 290899075 (NC_000008.11:27530067::T 527/133082) Row 290899076 (NC_000008.11:27530067::TT 2/133148) Row 290899077 (NC_000008.11:27530067::TTTT 1/133154)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 290899075 (NC_000008.11:27530067::T 527/133082) Row 290899076 (NC_000008.11:27530067::TT 2/133148) Row 290899077 (NC_000008.11:27530067::TTTT 1/133154)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 290899075 (NC_000008.11:27530067::T 527/133082) Row 290899076 (NC_000008.11:27530067::TT 2/133148) Row 290899077 (NC_000008.11:27530067::TTTT 1/133154)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 290899075 (NC_000008.11:27530067::T 527/133082) Row 290899076 (NC_000008.11:27530067::TT 2/133148) Row 290899077 (NC_000008.11:27530067::TTTT 1/133154)...	-	Apr 26, 2021 (155)
51	Korean Genome Project Submission ignored due to conflicting rows: Row 19902209 (NC_000008.11:27530067:T: 392/1832) Row 19902210 (NC_000008.11:27530068::T 55/1832)	-	Apr 26, 2020 (154)
52	Korean Genome Project Submission ignored due to conflicting rows: Row 19902209 (NC_000008.11:27530067:T: 392/1832) Row 19902210 (NC_000008.11:27530068::T 55/1832)	-	Apr 26, 2020 (154)
53	Northern Sweden	NC_000008.10 - 27387585	Jul 13, 2019 (153)
54	8.3KJPN	NC_000008.10 - 27387585	Apr 26, 2021 (155)
55	14KJPN Submission ignored due to conflicting rows: Row 63450524 (NC_000008.11:27530067:T: 7796/28258) Row 63450525 (NC_000008.11:27530067::T 3/28258)	-	Oct 16, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 63450524 (NC_000008.11:27530067:T: 7796/28258) Row 63450525 (NC_000008.11:27530067::T 3/28258)	-	Oct 16, 2022 (156)
57	UK 10K study - Twins	NC_000008.10 - 27387585	Oct 12, 2018 (152)
58	ALFA	NC_000008.11 - 27530068	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)
rs35679602	May 11, 2012 (137)
rs60953152	May 26, 2008 (130)
rs72005338	May 11, 2012 (137)
rs112249976	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
11264935032	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTT	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTT	(self)
11264935032	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTT	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4181338922	NC_000008.11:27530067:TT:	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
11264935032	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTT	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss81711722, ss82376146	NC_000008.9:27443513:T:	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
41257395, 22940290, 1210236, 8805438, 45888622, 22940290, ss663846416, ss666432672, ss1367879970, ss1577178596, ss1705992278, ss1705992350, ss3002899892, ss3644258629, ss3735520573, ss3831086242, ss3839052670, ss5187919315, ss5830306591, ss5974230850	NC_000008.10:27387584:T:	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3065180270, ss3066194382, ss3721678220, ss3810955470, ss3844510953, ss3963524208, ss4181338921, ss5276539666, ss5473170837, ss5729613420, ss5856313103, ss5888266180	NC_000008.11:27530067:T:	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
11264935032	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss193968819	NT_167187.2:15245722:T:	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4181338916, ss5473170838, ss5729613421	NC_000008.11:27530067::T	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
11264935032	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3721678221, ss3963524209	NC_000008.11:27530068::T	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4181338917	NC_000008.11:27530067::TT	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3721678222	NC_000008.11:27530068::TTT	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4181338918	NC_000008.11:27530067::TTTT	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4181338919	NC_000008.11:27530067::TTTTTTT	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4181338920	NC_000008.11:27530067::TTTTTTTTTTTT	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3557410837	NC_000008.11:27530067:TTT:	NC_000008.11:27530067:TTTTTTTTTTTT… NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTT

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

No publications for rs34619047

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

rs34619047