Name: rs34648545
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.

rs34648545

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:70725831-70725851 (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(AC)₄ / delACAC / delAC / dupAC…
del(AC)₄ / delACAC / delAC / dupAC / dupACAC / dup(AC)₃ / dup(AC)₄
Variation Type: Indel Insertion and Deletion
Frequency: dupAC=0.1669 (1246/7466, ALFA)
delAC=0.3919 (1772/4522, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MAP3K9 : 3 Prime UTR 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	7466	CACACACACACACACACACAC=0.6763	CACACACACACAC=0.0000, CACACACACACACACAC=0.0000, CACACACACACACACACAC=0.1562, CACACACACACACACACACACAC=0.1669, CACACACACACACACACACACACACAC=0.0003, CACACACACACACACACACACACAC=0.0004, CACACACACACACACACACACACACACAC=0.0000	0.718439	0.066618	0.214943	32
European	Sub	6320	CACACACACACACACACACAC=0.6185	CACACACACACAC=0.0000, CACACACACACACACAC=0.0000, CACACACACACACACACAC=0.1840, CACACACACACACACACACACAC=0.1967, CACACACACACACACACACACACACAC=0.0003, CACACACACACACACACACACACAC=0.0005, CACACACACACACACACACACACACACAC=0.0000	0.644455	0.084343	0.271202	32
African	Sub	768	CACACACACACACACACACAC=1.000	CACACACACACAC=0.000, CACACACACACACACAC=0.000, CACACACACACACACACAC=0.000, CACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACAC=0.000	1.0	0.0	0.0	N/A
African Others	Sub	22	CACACACACACACACACACAC=1.00	CACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
African American	Sub	746	CACACACACACACACACACAC=1.000	CACACACACACAC=0.000, CACACACACACACACAC=0.000, CACACACACACACACACAC=0.000, CACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACAC=0.000	1.0	0.0	0.0	N/A
Asian	Sub	34	CACACACACACACACACACAC=1.00	CACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	30	CACACACACACACACACACAC=1.00	CACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	CACACACACACACACACACAC=1.0	CACACACACACAC=0.0, CACACACACACACACAC=0.0, CACACACACACACACACAC=0.0, CACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACAC=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	46	CACACACACACACACACACAC=1.00	CACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	124	CACACACACACACACACACAC=1.000	CACACACACACAC=0.000, CACACACACACACACAC=0.000, CACACACACACACACACAC=0.000, CACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACAC=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	36	CACACACACACACACACACAC=1.00	CACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Other	Sub	138	CACACACACACACACACACAC=0.957	CACACACACACAC=0.000, CACACACACACACACAC=0.000, CACACACACACACACACAC=0.022, CACACACACACACACACACACAC=0.022, CACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACAC=0.000	0.970149	0.0	0.029851	0

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	7466	(CA)₁₀C=0.6763	del(AC)₄=0.0000, delACAC=0.0000, delAC=0.1562, dupAC=0.1669, dupACAC=0.0004, dup(AC)₃=0.0003, dup(AC)₄=0.0000
Allele Frequency Aggregator	European	Sub	6320	(CA)₁₀C=0.6185	del(AC)₄=0.0000, delACAC=0.0000, delAC=0.1840, dupAC=0.1967, dupACAC=0.0005, dup(AC)₃=0.0003, dup(AC)₄=0.0000
Allele Frequency Aggregator	African	Sub	768	(CA)₁₀C=1.000	del(AC)₄=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)₃=0.000, dup(AC)₄=0.000
Allele Frequency Aggregator	Other	Sub	138	(CA)₁₀C=0.957	del(AC)₄=0.000, delACAC=0.000, delAC=0.022, dupAC=0.022, dupACAC=0.000, dup(AC)₃=0.000, dup(AC)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	124	(CA)₁₀C=1.000	del(AC)₄=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)₃=0.000, dup(AC)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	46	(CA)₁₀C=1.00	del(AC)₄=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	36	(CA)₁₀C=1.00	del(AC)₄=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00
Allele Frequency Aggregator	Asian	Sub	34	(CA)₁₀C=1.00	del(AC)₄=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00
1000Genomes	Global	Study-wide	4522	(CA)₁₀C=0.6081	delAC=0.3919
1000Genomes	African	Sub	1287	(CA)₁₀C=0.5680	delAC=0.4320
1000Genomes	East Asian	Sub	1006	(CA)₁₀C=0.5596	delAC=0.4404
1000Genomes	South Asian	Sub	864	(CA)₁₀C=0.715	delAC=0.285
1000Genomes	Europe	Sub	797	(CA)₁₀C=0.646	delAC=0.354
1000Genomes	American	Sub	568	(CA)₁₀C=0.569	delAC=0.431

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 14	NC_000014.9:g.70725832AC[6]
GRCh38.p14 chr 14	NC_000014.9:g.70725832AC[8]
GRCh38.p14 chr 14	NC_000014.9:g.70725832AC[9]
GRCh38.p14 chr 14	NC_000014.9:g.70725832AC[11]
GRCh38.p14 chr 14	NC_000014.9:g.70725832AC[12]
GRCh38.p14 chr 14	NC_000014.9:g.70725832AC[13]
GRCh38.p14 chr 14	NC_000014.9:g.70725832AC[14]
GRCh37.p13 chr 14	NC_000014.8:g.71192549AC[6]
GRCh37.p13 chr 14	NC_000014.8:g.71192549AC[8]
GRCh37.p13 chr 14	NC_000014.8:g.71192549AC[9]
GRCh37.p13 chr 14	NC_000014.8:g.71192549AC[11]
GRCh37.p13 chr 14	NC_000014.8:g.71192549AC[12]
GRCh37.p13 chr 14	NC_000014.8:g.71192549AC[13]
GRCh37.p13 chr 14	NC_000014.8:g.71192549AC[14]

Gene: MAP3K9, mitogen-activated protein kinase kinase kinase 9 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MAP3K9 transcript variant 3	NM_001284231.1:c.4529_4… NM_001284231.1:c.4529_4549=	N/A	3 Prime UTR Variant
MAP3K9 transcript variant 4	NM_001284232.1:c.4529_4… NM_001284232.1:c.4529_4549=	N/A	3 Prime UTR Variant
MAP3K9 transcript variant 1	NM_033141.4:c.4529_4549=	N/A	3 Prime UTR Variant
MAP3K9 transcript variant 2	NM_001284230.2:c.4529_4… NM_001284230.2:c.4529_4549=	N/A	3 Prime UTR Variant
MAP3K9 transcript variant X3	XM_011536792.1:c.4529_4… XM_011536792.1:c.4529_4549=	N/A	3 Prime UTR Variant
MAP3K9 transcript variant X1	XM_011536788.4:c.4529_4… XM_011536788.4:c.4529_4549=	N/A	3 Prime UTR Variant
MAP3K9 transcript variant X2	XM_005267683.6:c.4529_4… XM_005267683.6:c.4529_4549=	N/A	3 Prime UTR Variant
MAP3K9 transcript variant X4	XM_011536794.3:c.4529_4… XM_011536794.3:c.4529_4549=	N/A	3 Prime UTR 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	(CA)₁₀C=	del(AC)₄	delACAC	delAC	dupAC	dupACAC	dup(AC)₃	dup(AC)₄
GRCh38.p14 chr 14	NC_000014.9:g.70725831_70725851=	NC_000014.9:g.70725832AC[6]	NC_000014.9:g.70725832AC[8]	NC_000014.9:g.70725832AC[9]	NC_000014.9:g.70725832AC[11]	NC_000014.9:g.70725832AC[12]	NC_000014.9:g.70725832AC[13]	NC_000014.9:g.70725832AC[14]
GRCh37.p13 chr 14	NC_000014.8:g.71192548_71192568=	NC_000014.8:g.71192549AC[6]	NC_000014.8:g.71192549AC[8]	NC_000014.8:g.71192549AC[9]	NC_000014.8:g.71192549AC[11]	NC_000014.8:g.71192549AC[12]	NC_000014.8:g.71192549AC[13]	NC_000014.8:g.71192549AC[14]
MAP3K9 transcript variant X2	XM_005267683.6:c.4529_4549=	XM_005267683.6:c.*4530TG[6]	XM_005267683.6:c.*4530TG[8]	XM_005267683.6:c.*4530TG[9]	XM_005267683.6:c.*4530TG[11]	XM_005267683.6:c.*4530TG[12]	XM_005267683.6:c.*4530TG[13]	XM_005267683.6:c.*4530TG[14]
MAP3K9 transcript variant X2	XM_005267683.5:c.4529_4549=	XM_005267683.5:c.*4530TG[6]	XM_005267683.5:c.*4530TG[8]	XM_005267683.5:c.*4530TG[9]	XM_005267683.5:c.*4530TG[11]	XM_005267683.5:c.*4530TG[12]	XM_005267683.5:c.*4530TG[13]	XM_005267683.5:c.*4530TG[14]
MAP3K9 transcript variant X2	XM_005267683.4:c.4529_4549=	XM_005267683.4:c.*4530TG[6]	XM_005267683.4:c.*4530TG[8]	XM_005267683.4:c.*4530TG[9]	XM_005267683.4:c.*4530TG[11]	XM_005267683.4:c.*4530TG[12]	XM_005267683.4:c.*4530TG[13]	XM_005267683.4:c.*4530TG[14]
MAP3K9 transcript variant X5	XM_005267683.3:c.4529_4549=	XM_005267683.3:c.*4530TG[6]	XM_005267683.3:c.*4530TG[8]	XM_005267683.3:c.*4530TG[9]	XM_005267683.3:c.*4530TG[11]	XM_005267683.3:c.*4530TG[12]	XM_005267683.3:c.*4530TG[13]	XM_005267683.3:c.*4530TG[14]
MAP3K9 transcript variant X2	XM_005267683.2:c.4529_4549=	XM_005267683.2:c.*4530TG[6]	XM_005267683.2:c.*4530TG[8]	XM_005267683.2:c.*4530TG[9]	XM_005267683.2:c.*4530TG[11]	XM_005267683.2:c.*4530TG[12]	XM_005267683.2:c.*4530TG[13]	XM_005267683.2:c.*4530TG[14]
MAP3K9 transcript variant X2	XM_005267683.1:c.4529_4549=	XM_005267683.1:c.*4530TG[6]	XM_005267683.1:c.*4530TG[8]	XM_005267683.1:c.*4530TG[9]	XM_005267683.1:c.*4530TG[11]	XM_005267683.1:c.*4530TG[12]	XM_005267683.1:c.*4530TG[13]	XM_005267683.1:c.*4530TG[14]
MAP3K9 transcript variant X1	XM_011536788.4:c.4529_4549=	XM_011536788.4:c.*4530TG[6]	XM_011536788.4:c.*4530TG[8]	XM_011536788.4:c.*4530TG[9]	XM_011536788.4:c.*4530TG[11]	XM_011536788.4:c.*4530TG[12]	XM_011536788.4:c.*4530TG[13]	XM_011536788.4:c.*4530TG[14]
MAP3K9 transcript variant X1	XM_011536788.3:c.4529_4549=	XM_011536788.3:c.*4530TG[6]	XM_011536788.3:c.*4530TG[8]	XM_011536788.3:c.*4530TG[9]	XM_011536788.3:c.*4530TG[11]	XM_011536788.3:c.*4530TG[12]	XM_011536788.3:c.*4530TG[13]	XM_011536788.3:c.*4530TG[14]
MAP3K9 transcript variant X1	XM_011536788.2:c.4529_4549=	XM_011536788.2:c.*4530TG[6]	XM_011536788.2:c.*4530TG[8]	XM_011536788.2:c.*4530TG[9]	XM_011536788.2:c.*4530TG[11]	XM_011536788.2:c.*4530TG[12]	XM_011536788.2:c.*4530TG[13]	XM_011536788.2:c.*4530TG[14]
MAP3K9 transcript variant X1	XM_011536788.1:c.4529_4549=	XM_011536788.1:c.*4530TG[6]	XM_011536788.1:c.*4530TG[8]	XM_011536788.1:c.*4530TG[9]	XM_011536788.1:c.*4530TG[11]	XM_011536788.1:c.*4530TG[12]	XM_011536788.1:c.*4530TG[13]	XM_011536788.1:c.*4530TG[14]
MAP3K9 transcript variant 1	NM_033141.4:c.4529_4549=	NM_033141.4:c.*4530TG[6]	NM_033141.4:c.*4530TG[8]	NM_033141.4:c.*4530TG[9]	NM_033141.4:c.*4530TG[11]	NM_033141.4:c.*4530TG[12]	NM_033141.4:c.*4530TG[13]	NM_033141.4:c.*4530TG[14]
MAP3K9 transcript variant 1	NM_033141.3:c.4529_4549=	NM_033141.3:c.*4530TG[6]	NM_033141.3:c.*4530TG[8]	NM_033141.3:c.*4530TG[9]	NM_033141.3:c.*4530TG[11]	NM_033141.3:c.*4530TG[12]	NM_033141.3:c.*4530TG[13]	NM_033141.3:c.*4530TG[14]
MAP3K9 transcript variant X4	XM_011536794.3:c.4529_4549=	XM_011536794.3:c.*4530TG[6]	XM_011536794.3:c.*4530TG[8]	XM_011536794.3:c.*4530TG[9]	XM_011536794.3:c.*4530TG[11]	XM_011536794.3:c.*4530TG[12]	XM_011536794.3:c.*4530TG[13]	XM_011536794.3:c.*4530TG[14]
MAP3K9 transcript variant X4	XM_011536794.2:c.4529_4549=	XM_011536794.2:c.*4530TG[6]	XM_011536794.2:c.*4530TG[8]	XM_011536794.2:c.*4530TG[9]	XM_011536794.2:c.*4530TG[11]	XM_011536794.2:c.*4530TG[12]	XM_011536794.2:c.*4530TG[13]	XM_011536794.2:c.*4530TG[14]
MAP3K9 transcript variant X8	XM_011536794.1:c.4529_4549=	XM_011536794.1:c.*4530TG[6]	XM_011536794.1:c.*4530TG[8]	XM_011536794.1:c.*4530TG[9]	XM_011536794.1:c.*4530TG[11]	XM_011536794.1:c.*4530TG[12]	XM_011536794.1:c.*4530TG[13]	XM_011536794.1:c.*4530TG[14]
MAP3K9 transcript variant 2	NM_001284230.2:c.4529_4549=	NM_001284230.2:c.*4530TG[6]	NM_001284230.2:c.*4530TG[8]	NM_001284230.2:c.*4530TG[9]	NM_001284230.2:c.*4530TG[11]	NM_001284230.2:c.*4530TG[12]	NM_001284230.2:c.*4530TG[13]	NM_001284230.2:c.*4530TG[14]
MAP3K9 transcript variant 2	NM_001284230.1:c.4529_4549=	NM_001284230.1:c.*4530TG[6]	NM_001284230.1:c.*4530TG[8]	NM_001284230.1:c.*4530TG[9]	NM_001284230.1:c.*4530TG[11]	NM_001284230.1:c.*4530TG[12]	NM_001284230.1:c.*4530TG[13]	NM_001284230.1:c.*4530TG[14]
MAP3K9 transcript variant X3	XM_011536792.1:c.4529_4549=	XM_011536792.1:c.*4530TG[6]	XM_011536792.1:c.*4530TG[8]	XM_011536792.1:c.*4530TG[9]	XM_011536792.1:c.*4530TG[11]	XM_011536792.1:c.*4530TG[12]	XM_011536792.1:c.*4530TG[13]	XM_011536792.1:c.*4530TG[14]
MAP3K9 transcript variant 3	NM_001284231.1:c.4529_4549=	NM_001284231.1:c.*4530TG[6]	NM_001284231.1:c.*4530TG[8]	NM_001284231.1:c.*4530TG[9]	NM_001284231.1:c.*4530TG[11]	NM_001284231.1:c.*4530TG[12]	NM_001284231.1:c.*4530TG[13]	NM_001284231.1:c.*4530TG[14]
MAP3K9 transcript variant 4	NM_001284232.1:c.4529_4549=	NM_001284232.1:c.*4530TG[6]	NM_001284232.1:c.*4530TG[8]	NM_001284232.1:c.*4530TG[9]	NM_001284232.1:c.*4530TG[11]	NM_001284232.1:c.*4530TG[12]	NM_001284232.1:c.*4530TG[13]	NM_001284232.1:c.*4530TG[14]

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#.

71 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40497959	Mar 14, 2006 (126)
2	HGSV	ss79759592	Dec 14, 2007 (129)
3	HGSV	ss80992347	Dec 14, 2007 (129)
4	HUMANGENOME_JCVI	ss95953722	Feb 13, 2009 (130)
5	BUSHMAN	ss193358748	Jul 04, 2010 (132)
6	BL	ss256172026	Jan 10, 2018 (151)
7	GMI	ss287920180	May 09, 2011 (134)
8	GMI	ss289228837	Jan 10, 2018 (151)
9	PJP	ss294837635	Sep 08, 2015 (146)
10	1000GENOMES	ss327617585	Jan 10, 2018 (151)
11	1000GENOMES	ss327730927	May 09, 2011 (135)
12	LUNTER	ss552372248	Apr 25, 2013 (138)
13	LUNTER	ss553554082	Jan 10, 2018 (151)
14	TISHKOFF	ss554743035	Apr 25, 2013 (142)
15	SSMP	ss664240645	Jan 10, 2018 (151)
16	1000GENOMES	ss1374248801	Jan 10, 2018 (151)
17	1000GENOMES	ss1374248806	Aug 21, 2014 (142)
18	EVA_DECODE	ss1695289721	Jan 10, 2018 (151)
19	EVA_DECODE	ss1695289722	Apr 01, 2015 (144)
20	EVA_DECODE	ss1695289723	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1708109297	Jan 10, 2018 (151)
22	EVA_UK10K_ALSPAC	ss1708109299	Apr 01, 2015 (144)
23	EVA_UK10K_TWINSUK	ss1708109378	Jan 10, 2018 (151)
24	EVA_UK10K_TWINSUK	ss1708109379	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1710642320	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1710642331	Apr 01, 2015 (144)
27	HAMMER_LAB	ss1807978046	Jan 10, 2018 (151)
28	GENOMED	ss1967992380	Jan 10, 2018 (151)
29	SYSTEMSBIOZJU	ss2628544030	Jan 10, 2018 (151)
30	SWEGEN	ss3012416201	Jan 10, 2018 (151)
31	MCHAISSO	ss3063799111	Jan 10, 2018 (151)
32	URBANLAB	ss3650232847	Oct 12, 2018 (152)
33	EVA_DECODE	ss3696939565	Jul 13, 2019 (153)
34	EVA_DECODE	ss3696939566	Jul 13, 2019 (153)
35	EVA_DECODE	ss3696939567	Jul 13, 2019 (153)
36	ACPOP	ss3740498448	Jul 13, 2019 (153)
37	ACPOP	ss3740498449	Jul 13, 2019 (153)
38	ACPOP	ss3740498450	Jul 13, 2019 (153)
39	PACBIO	ss3787701929	Jul 13, 2019 (153)
40	PACBIO	ss3792734348	Jul 13, 2019 (153)
41	PACBIO	ss3797618669	Jul 13, 2019 (153)
42	KHV_HUMAN_GENOMES	ss3817814178	Jul 13, 2019 (153)
43	KHV_HUMAN_GENOMES	ss3817814179	Jul 13, 2019 (153)
44	EVA	ss3833987012	Apr 27, 2020 (154)
45	EVA	ss3840584774	Apr 27, 2020 (154)
46	EVA	ss3846074270	Apr 27, 2020 (154)
47	KOGIC	ss3975191560	Apr 27, 2020 (154)
48	KOGIC	ss3975191561	Apr 27, 2020 (154)
49	GNOMAD	ss4280331995	Apr 27, 2021 (155)
50	GNOMAD	ss4280331996	Apr 27, 2021 (155)
51	GNOMAD	ss4280331997	Apr 27, 2021 (155)
52	GNOMAD	ss4280331998	Apr 27, 2021 (155)
53	GNOMAD	ss4280331999	Apr 27, 2021 (155)
54	GNOMAD	ss4280332000	Apr 27, 2021 (155)
55	TOMMO_GENOMICS	ss5213827796	Apr 27, 2021 (155)
56	TOMMO_GENOMICS	ss5213827797	Apr 27, 2021 (155)
57	TOMMO_GENOMICS	ss5213827798	Apr 27, 2021 (155)
58	1000G_HIGH_COVERAGE	ss5296685507	Oct 16, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5296685508	Oct 16, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5296685509	Oct 16, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5296685510	Oct 16, 2022 (156)
62	HUGCELL_USP	ss5490683880	Oct 16, 2022 (156)
63	HUGCELL_USP	ss5490683881	Oct 16, 2022 (156)
64	HUGCELL_USP	ss5490683882	Oct 16, 2022 (156)
65	TOMMO_GENOMICS	ss5766802485	Oct 16, 2022 (156)
66	TOMMO_GENOMICS	ss5766802486	Oct 16, 2022 (156)
67	TOMMO_GENOMICS	ss5766802487	Oct 16, 2022 (156)
68	EVA	ss5841291857	Oct 16, 2022 (156)
69	EVA	ss5841291858	Oct 16, 2022 (156)
70	EVA	ss5851090189	Oct 16, 2022 (156)
71	EVA	ss5980835002	Oct 16, 2022 (156)
72	1000Genomes	NC_000014.8 - 71192548	Oct 12, 2018 (152)
73	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 35857337 (NC_000014.8:71192547:CA: 1008/3854) Row 35857338 (NC_000014.8:71192547::CA 922/3854) Row 35857339 (NC_000014.8:71192548::AC 1128/3854)	-	Oct 12, 2018 (152)
74	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 35857337 (NC_000014.8:71192547:CA: 1008/3854) Row 35857338 (NC_000014.8:71192547::CA 922/3854) Row 35857339 (NC_000014.8:71192548::AC 1128/3854)	-	Oct 12, 2018 (152)
75	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 35857337 (NC_000014.8:71192547:CA: 1008/3854) Row 35857338 (NC_000014.8:71192547::CA 922/3854) Row 35857339 (NC_000014.8:71192548::AC 1128/3854)	-	Oct 12, 2018 (152)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455003912 (NC_000014.9:70725830::CA 24161/138870) Row 455003913 (NC_000014.9:70725830::CACA 104/138960) Row 455003914 (NC_000014.9:70725830::CACACA 12/138962)...	-	Apr 27, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455003912 (NC_000014.9:70725830::CA 24161/138870) Row 455003913 (NC_000014.9:70725830::CACA 104/138960) Row 455003914 (NC_000014.9:70725830::CACACA 12/138962)...	-	Apr 27, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455003912 (NC_000014.9:70725830::CA 24161/138870) Row 455003913 (NC_000014.9:70725830::CACA 104/138960) Row 455003914 (NC_000014.9:70725830::CACACA 12/138962)...	-	Apr 27, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455003912 (NC_000014.9:70725830::CA 24161/138870) Row 455003913 (NC_000014.9:70725830::CACA 104/138960) Row 455003914 (NC_000014.9:70725830::CACACA 12/138962)...	-	Apr 27, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455003912 (NC_000014.9:70725830::CA 24161/138870) Row 455003913 (NC_000014.9:70725830::CACA 104/138960) Row 455003914 (NC_000014.9:70725830::CACACA 12/138962)...	-	Apr 27, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455003912 (NC_000014.9:70725830::CA 24161/138870) Row 455003913 (NC_000014.9:70725830::CACA 104/138960) Row 455003914 (NC_000014.9:70725830::CACACA 12/138962)...	-	Apr 27, 2021 (155)
82	Korean Genome Project Submission ignored due to conflicting rows: Row 31569561 (NC_000014.9:70725830:CA: 797/1832) Row 31569562 (NC_000014.9:70725832::CA 13/1832)	-	Apr 27, 2020 (154)
83	Korean Genome Project Submission ignored due to conflicting rows: Row 31569561 (NC_000014.9:70725830:CA: 797/1832) Row 31569562 (NC_000014.9:70725832::CA 13/1832)	-	Apr 27, 2020 (154)
84	Northern Sweden Submission ignored due to conflicting rows: Row 13783313 (NC_000014.8:71192547::CA 135/600) Row 13783314 (NC_000014.8:71192547:CA: 198/600) Row 13783315 (NC_000014.8:71192547:CACA: 1/600)	-	Jul 13, 2019 (153)
85	Northern Sweden Submission ignored due to conflicting rows: Row 13783313 (NC_000014.8:71192547::CA 135/600) Row 13783314 (NC_000014.8:71192547:CA: 198/600) Row 13783315 (NC_000014.8:71192547:CACA: 1/600)	-	Jul 13, 2019 (153)
86	Northern Sweden Submission ignored due to conflicting rows: Row 13783313 (NC_000014.8:71192547::CA 135/600) Row 13783314 (NC_000014.8:71192547:CA: 198/600) Row 13783315 (NC_000014.8:71192547:CACA: 1/600)	-	Jul 13, 2019 (153)
87	8.3KJPN Submission ignored due to conflicting rows: Row 71797103 (NC_000014.8:71192547:CA: 6584/16760) Row 71797104 (NC_000014.8:71192547::CA 85/16760) Row 71797105 (NC_000014.8:71192547::CACA 1/16760)	-	Apr 27, 2021 (155)
88	8.3KJPN Submission ignored due to conflicting rows: Row 71797103 (NC_000014.8:71192547:CA: 6584/16760) Row 71797104 (NC_000014.8:71192547::CA 85/16760) Row 71797105 (NC_000014.8:71192547::CACA 1/16760)	-	Apr 27, 2021 (155)
89	8.3KJPN Submission ignored due to conflicting rows: Row 71797103 (NC_000014.8:71192547:CA: 6584/16760) Row 71797104 (NC_000014.8:71192547::CA 85/16760) Row 71797105 (NC_000014.8:71192547::CACA 1/16760)	-	Apr 27, 2021 (155)
90	14KJPN Submission ignored due to conflicting rows: Row 100639589 (NC_000014.9:70725830:CA: 11145/28258) Row 100639590 (NC_000014.9:70725830::CA 128/28258) Row 100639591 (NC_000014.9:70725830::CACA 2/28258)	-	Oct 16, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 100639589 (NC_000014.9:70725830:CA: 11145/28258) Row 100639590 (NC_000014.9:70725830::CA 128/28258) Row 100639591 (NC_000014.9:70725830::CACA 2/28258)	-	Oct 16, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 100639589 (NC_000014.9:70725830:CA: 11145/28258) Row 100639590 (NC_000014.9:70725830::CA 128/28258) Row 100639591 (NC_000014.9:70725830::CACA 2/28258)	-	Oct 16, 2022 (156)
93	UK 10K study - Twins Submission ignored due to conflicting rows: Row 35857337 (NC_000014.8:71192547:CA: 974/3708) Row 35857338 (NC_000014.8:71192547::CA 936/3708) Row 35857339 (NC_000014.8:71192548::AC 1156/3708)	-	Oct 12, 2018 (152)
94	UK 10K study - Twins Submission ignored due to conflicting rows: Row 35857337 (NC_000014.8:71192547:CA: 974/3708) Row 35857338 (NC_000014.8:71192547::CA 936/3708) Row 35857339 (NC_000014.8:71192548::AC 1156/3708)	-	Oct 12, 2018 (152)
95	UK 10K study - Twins Submission ignored due to conflicting rows: Row 35857337 (NC_000014.8:71192547:CA: 974/3708) Row 35857338 (NC_000014.8:71192547::CA 936/3708) Row 35857339 (NC_000014.8:71192548::AC 1156/3708)	-	Oct 12, 2018 (152)
96	ALFA	NC_000014.9 - 70725831	Apr 27, 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)
rs72393336	May 04, 2012 (137)
rs140293660	May 11, 2012 (137)
rs145212926	May 11, 2012 (137)
rs146255330	Sep 17, 2011 (135)
rs796887047	Nov 08, 2017 (151)
rs71886558	May 11, 2012 (137)
rs72258767	May 11, 2012 (137)
rs72411196	May 11, 2012 (137)
rs372255198	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4280332000	NC_000014.9:70725830:CACACACA:	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACAC	(self)
2680569339	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACAC	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACAC	(self)
ss3740498450, ss5980835002	NC_000014.8:71192547:CACA:	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACAC	(self)
ss4280331999, ss5296685509	NC_000014.9:70725830:CACA:	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACAC	(self)
2680569339	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACAC	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACAC	(self)
ss256172026, ss289228837, ss327617585, ss553554082, ss1695289721	NC_000014.7:70262300:CA:	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACAC	(self)
ss294837635	NC_000014.7:70262308:CA:	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACAC	(self)
ss79759592, ss80992347	NC_000014.7:70262319:AC:	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACAC	(self)
64532221, ss664240645, ss1374248801, ss1708109297, ss1708109378, ss1807978046, ss1967992380, ss2628544030, ss3012416201, ss3740498449, ss3787701929, ss3792734348, ss3797618669, ss3833987012, ss5213827796, ss5841291857	NC_000014.8:71192547:CA:	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACAC	(self)
ss554743035	NC_000014.8:71192566:AC:	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACAC	(self)
ss3063799111, ss3696939567, ss3817814178, ss3975191560, ss4280331998, ss5296685507, ss5490683880, ss5766802485, ss5851090189	NC_000014.9:70725830:CA:	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACAC	(self)
2680569339	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACAC	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACAC	(self)
ss193358748	NT_026437.13:52502307:CA:	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACAC	(self)
ss327730927, ss552372248, ss1695289722	NC_000014.7:70262300::CA	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACAC	(self)
ss3740498448, ss5213827797, ss5841291858	NC_000014.8:71192547::CA	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACAC	(self)
ss1708109299, ss1708109379	NC_000014.8:71192548::AC	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACAC	(self)
ss1374248806, ss1710642320, ss1710642331, ss3840584774	NC_000014.8:71192549::CA	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACAC	(self)
ss3650232847, ss4280331995, ss5296685508, ss5490683881, ss5766802486	NC_000014.9:70725830::CA	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACAC	(self)
2680569339	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACAC	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACAC	(self)
ss3696939566, ss3817814179, ss3846074270, ss3975191561	NC_000014.9:70725832::CA	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACAC	(self)
ss40497959	NT_026437.12:52192547::CA	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACAC	(self)
ss95953722, ss287920180	NT_026437.12:52192568::AC	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACAC	(self)
ss1695289723	NC_000014.7:70262300::CACA	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACACAC	(self)
ss5213827798	NC_000014.8:71192547::CACA	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACACAC	(self)
ss4280331996, ss5296685510, ss5490683882, ss5766802487	NC_000014.9:70725830::CACA	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACACAC	(self)
2680569339	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACACAC	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACACAC	(self)
ss3696939565	NC_000014.9:70725832::CACA	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACACAC	(self)
ss4280331997	NC_000014.9:70725830::CACACA	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACACACAC	(self)
2680569339	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACACACAC	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACACACAC	(self)
2680569339	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACACACACAC	NC_000014.9:70725830:CACACACACACAC… NC_000014.9:70725830:CACACACACACACACACACAC:CACACACACACACACACACACACACACAC	(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 rs34648545

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

rs34648545