Name: rs11458918
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.

rs11458918

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:69131760-69131774 (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)₆ / del(T)₅ / del(T)₄ / delT…
del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₆=0.000008 (2/264690, TOPMED)
dupT=0.07116 (906/12732, ALFA)
dupT=0.215 (126/586, NorthernSweden) (+ 1 more)
dupT=0.28 (11/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DCAF5 : 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	12732	TTTTTTTTTTTTTTT=0.92782	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00071, TTTTTTTTTTTTTTTT=0.07116, TTTTTTTTTTTTTTTTT=0.00031	0.878974	0.021404	0.099622	32
European	Sub	9472	TTTTTTTTTTTTTTT=0.9033	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0010, TTTTTTTTTTTTTTTT=0.0953, TTTTTTTTTTTTTTTTT=0.0004	0.837638	0.028577	0.133785	32
African	Sub	2304	TTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	110	TTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African American	Sub	2194	TTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	108	TTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	86	TTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	22	TTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	82	TTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	374	TTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	86	TTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	306	TTTTTTTTTTTTTTT=0.990	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.010, TTTTTTTTTTTTTTTTT=0.000	0.986928	0.006536	0.006536	35

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
TopMed	Global	Study-wide	264690	(T)₁₅=0.999992	del(T)₆=0.000008
Allele Frequency Aggregator	Total	Global	12732	(T)₁₅=0.92782	del(T)₆=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00071, dupT=0.07116, dupTT=0.00031
Allele Frequency Aggregator	European	Sub	9472	(T)₁₅=0.9033	del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0010, dupT=0.0953, dupTT=0.0004
Allele Frequency Aggregator	African	Sub	2304	(T)₁₅=1.0000	del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	374	(T)₁₅=1.000	del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	306	(T)₁₅=0.990	del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.010, dupTT=0.000
Allele Frequency Aggregator	Asian	Sub	108	(T)₁₅=1.000	del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	South Asian	Sub	86	(T)₁₅=1.00	del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	82	(T)₁₅=1.00	del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Northern Sweden	ACPOP	Study-wide	586	- No frequency provided	dupT=0.215
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.28

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.69131769_69131774del
GRCh38.p14 chr 14	NC_000014.9:g.69131770_69131774del
GRCh38.p14 chr 14	NC_000014.9:g.69131771_69131774del
GRCh38.p14 chr 14	NC_000014.9:g.69131772_69131774del
GRCh38.p14 chr 14	NC_000014.9:g.69131773_69131774del
GRCh38.p14 chr 14	NC_000014.9:g.69131774del
GRCh38.p14 chr 14	NC_000014.9:g.69131774dup
GRCh38.p14 chr 14	NC_000014.9:g.69131773_69131774dup
GRCh38.p14 chr 14	NC_000014.9:g.69131772_69131774dup
GRCh37.p13 chr 14	NC_000014.8:g.69598486_69598491del
GRCh37.p13 chr 14	NC_000014.8:g.69598487_69598491del
GRCh37.p13 chr 14	NC_000014.8:g.69598488_69598491del
GRCh37.p13 chr 14	NC_000014.8:g.69598489_69598491del
GRCh37.p13 chr 14	NC_000014.8:g.69598490_69598491del
GRCh37.p13 chr 14	NC_000014.8:g.69598491del
GRCh37.p13 chr 14	NC_000014.8:g.69598491dup
GRCh37.p13 chr 14	NC_000014.8:g.69598490_69598491dup
GRCh37.p13 chr 14	NC_000014.8:g.69598489_69598491dup

Gene: DCAF5, DDB1 and CUL4 associated factor 5 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DCAF5 transcript variant 2	NM_001284206.1:c.215-9405… NM_001284206.1:c.215-9405_215-9400del	N/A	Intron Variant
DCAF5 transcript variant 3	NM_001284207.1:c.-32-9405… NM_001284207.1:c.-32-9405_-32-9400del	N/A	Intron Variant
DCAF5 transcript variant 4	NM_001284208.2:c.215-9405… NM_001284208.2:c.215-9405_215-9400del	N/A	Intron Variant
DCAF5 transcript variant 1	NM_003861.3:c.215-9405_21… NM_003861.3:c.215-9405_215-9400del	N/A	Intron Variant
DCAF5 transcript variant X1	XM_006720297.3:c.215-9405… XM_006720297.3:c.215-9405_215-9400del	N/A	Intron Variant
DCAF5 transcript variant X2	XM_006720298.3:c.215-9405… XM_006720298.3:c.215-9405_215-9400del	N/A	Intron Variant
DCAF5 transcript variant X3	XM_006720299.4:c.-32-9405… XM_006720299.4:c.-32-9405_-32-9400del	N/A	Intron Variant
DCAF5 transcript variant X7	XM_011537278.2:c.-32-9405… XM_011537278.2:c.-32-9405_-32-9400del	N/A	Intron Variant
DCAF5 transcript variant X4	XM_011537279.3:c.-32-9405… XM_011537279.3:c.-32-9405_-32-9400del	N/A	Intron Variant
DCAF5 transcript variant X5	XM_017021733.2:c.-32-9405… XM_017021733.2:c.-32-9405_-32-9400del	N/A	Intron Variant
DCAF5 transcript variant X6	XM_047431846.1:c.-32-9405… XM_047431846.1:c.-32-9405_-32-9400del	N/A	Intron Variant
DCAF5 transcript variant X8	XM_047431847.1:c.-32-9405… XM_047431847.1:c.-32-9405_-32-9400del	N/A	Intron Variant
DCAF5 transcript variant X9	XM_011537280.4:c.	N/A	Genic Upstream Transcript Variant
DCAF5 transcript variant X10	XM_017021737.2:c.	N/A	Genic Upstream Transcript 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)₁₅=	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT
GRCh38.p14 chr 14	NC_000014.9:g.69131760_69131774=	NC_000014.9:g.69131769_69131774del	NC_000014.9:g.69131770_69131774del	NC_000014.9:g.69131771_69131774del	NC_000014.9:g.69131772_69131774del	NC_000014.9:g.69131773_69131774del	NC_000014.9:g.69131774del	NC_000014.9:g.69131774dup	NC_000014.9:g.69131773_69131774dup	NC_000014.9:g.69131772_69131774dup
GRCh37.p13 chr 14	NC_000014.8:g.69598477_69598491=	NC_000014.8:g.69598486_69598491del	NC_000014.8:g.69598487_69598491del	NC_000014.8:g.69598488_69598491del	NC_000014.8:g.69598489_69598491del	NC_000014.8:g.69598490_69598491del	NC_000014.8:g.69598491del	NC_000014.8:g.69598491dup	NC_000014.8:g.69598490_69598491dup	NC_000014.8:g.69598489_69598491dup
DCAF5 transcript variant 2	NM_001284206.1:c.215-9400=	NM_001284206.1:c.215-9405_215-9400del	NM_001284206.1:c.215-9404_215-9400del	NM_001284206.1:c.215-9403_215-9400del	NM_001284206.1:c.215-9402_215-9400del	NM_001284206.1:c.215-9401_215-9400del	NM_001284206.1:c.215-9400del	NM_001284206.1:c.215-9400dup	NM_001284206.1:c.215-9401_215-9400dup	NM_001284206.1:c.215-9402_215-9400dup
DCAF5 transcript variant 3	NM_001284207.1:c.-32-9400=	NM_001284207.1:c.-32-9405_-32-9400del	NM_001284207.1:c.-32-9404_-32-9400del	NM_001284207.1:c.-32-9403_-32-9400del	NM_001284207.1:c.-32-9402_-32-9400del	NM_001284207.1:c.-32-9401_-32-9400del	NM_001284207.1:c.-32-9400del	NM_001284207.1:c.-32-9400dup	NM_001284207.1:c.-32-9401_-32-9400dup	NM_001284207.1:c.-32-9402_-32-9400dup
DCAF5 transcript variant 4	NM_001284208.2:c.215-9400=	NM_001284208.2:c.215-9405_215-9400del	NM_001284208.2:c.215-9404_215-9400del	NM_001284208.2:c.215-9403_215-9400del	NM_001284208.2:c.215-9402_215-9400del	NM_001284208.2:c.215-9401_215-9400del	NM_001284208.2:c.215-9400del	NM_001284208.2:c.215-9400dup	NM_001284208.2:c.215-9401_215-9400dup	NM_001284208.2:c.215-9402_215-9400dup
DCAF5 transcript variant 1	NM_003861.2:c.215-9400=	NM_003861.2:c.215-9405_215-9400del	NM_003861.2:c.215-9404_215-9400del	NM_003861.2:c.215-9403_215-9400del	NM_003861.2:c.215-9402_215-9400del	NM_003861.2:c.215-9401_215-9400del	NM_003861.2:c.215-9400del	NM_003861.2:c.215-9400dup	NM_003861.2:c.215-9401_215-9400dup	NM_003861.2:c.215-9402_215-9400dup
DCAF5 transcript variant 1	NM_003861.3:c.215-9400=	NM_003861.3:c.215-9405_215-9400del	NM_003861.3:c.215-9404_215-9400del	NM_003861.3:c.215-9403_215-9400del	NM_003861.3:c.215-9402_215-9400del	NM_003861.3:c.215-9401_215-9400del	NM_003861.3:c.215-9400del	NM_003861.3:c.215-9400dup	NM_003861.3:c.215-9401_215-9400dup	NM_003861.3:c.215-9402_215-9400dup
DCAF5 transcript variant X1	XM_005268161.1:c.215-9400=	XM_005268161.1:c.215-9405_215-9400del	XM_005268161.1:c.215-9404_215-9400del	XM_005268161.1:c.215-9403_215-9400del	XM_005268161.1:c.215-9402_215-9400del	XM_005268161.1:c.215-9401_215-9400del	XM_005268161.1:c.215-9400del	XM_005268161.1:c.215-9400dup	XM_005268161.1:c.215-9401_215-9400dup	XM_005268161.1:c.215-9402_215-9400dup
DCAF5 transcript variant X2	XM_005268162.1:c.-32-9400=	XM_005268162.1:c.-32-9405_-32-9400del	XM_005268162.1:c.-32-9404_-32-9400del	XM_005268162.1:c.-32-9403_-32-9400del	XM_005268162.1:c.-32-9402_-32-9400del	XM_005268162.1:c.-32-9401_-32-9400del	XM_005268162.1:c.-32-9400del	XM_005268162.1:c.-32-9400dup	XM_005268162.1:c.-32-9401_-32-9400dup	XM_005268162.1:c.-32-9402_-32-9400dup
DCAF5 transcript variant X1	XM_006720297.3:c.215-9400=	XM_006720297.3:c.215-9405_215-9400del	XM_006720297.3:c.215-9404_215-9400del	XM_006720297.3:c.215-9403_215-9400del	XM_006720297.3:c.215-9402_215-9400del	XM_006720297.3:c.215-9401_215-9400del	XM_006720297.3:c.215-9400del	XM_006720297.3:c.215-9400dup	XM_006720297.3:c.215-9401_215-9400dup	XM_006720297.3:c.215-9402_215-9400dup
DCAF5 transcript variant X2	XM_006720298.3:c.215-9400=	XM_006720298.3:c.215-9405_215-9400del	XM_006720298.3:c.215-9404_215-9400del	XM_006720298.3:c.215-9403_215-9400del	XM_006720298.3:c.215-9402_215-9400del	XM_006720298.3:c.215-9401_215-9400del	XM_006720298.3:c.215-9400del	XM_006720298.3:c.215-9400dup	XM_006720298.3:c.215-9401_215-9400dup	XM_006720298.3:c.215-9402_215-9400dup
DCAF5 transcript variant X3	XM_006720299.4:c.-32-9400=	XM_006720299.4:c.-32-9405_-32-9400del	XM_006720299.4:c.-32-9404_-32-9400del	XM_006720299.4:c.-32-9403_-32-9400del	XM_006720299.4:c.-32-9402_-32-9400del	XM_006720299.4:c.-32-9401_-32-9400del	XM_006720299.4:c.-32-9400del	XM_006720299.4:c.-32-9400dup	XM_006720299.4:c.-32-9401_-32-9400dup	XM_006720299.4:c.-32-9402_-32-9400dup
DCAF5 transcript variant X7	XM_011537278.2:c.-32-9400=	XM_011537278.2:c.-32-9405_-32-9400del	XM_011537278.2:c.-32-9404_-32-9400del	XM_011537278.2:c.-32-9403_-32-9400del	XM_011537278.2:c.-32-9402_-32-9400del	XM_011537278.2:c.-32-9401_-32-9400del	XM_011537278.2:c.-32-9400del	XM_011537278.2:c.-32-9400dup	XM_011537278.2:c.-32-9401_-32-9400dup	XM_011537278.2:c.-32-9402_-32-9400dup
DCAF5 transcript variant X4	XM_011537279.3:c.-32-9400=	XM_011537279.3:c.-32-9405_-32-9400del	XM_011537279.3:c.-32-9404_-32-9400del	XM_011537279.3:c.-32-9403_-32-9400del	XM_011537279.3:c.-32-9402_-32-9400del	XM_011537279.3:c.-32-9401_-32-9400del	XM_011537279.3:c.-32-9400del	XM_011537279.3:c.-32-9400dup	XM_011537279.3:c.-32-9401_-32-9400dup	XM_011537279.3:c.-32-9402_-32-9400dup
DCAF5 transcript variant X5	XM_017021733.2:c.-32-9400=	XM_017021733.2:c.-32-9405_-32-9400del	XM_017021733.2:c.-32-9404_-32-9400del	XM_017021733.2:c.-32-9403_-32-9400del	XM_017021733.2:c.-32-9402_-32-9400del	XM_017021733.2:c.-32-9401_-32-9400del	XM_017021733.2:c.-32-9400del	XM_017021733.2:c.-32-9400dup	XM_017021733.2:c.-32-9401_-32-9400dup	XM_017021733.2:c.-32-9402_-32-9400dup
DCAF5 transcript variant X6	XM_047431846.1:c.-32-9400=	XM_047431846.1:c.-32-9405_-32-9400del	XM_047431846.1:c.-32-9404_-32-9400del	XM_047431846.1:c.-32-9403_-32-9400del	XM_047431846.1:c.-32-9402_-32-9400del	XM_047431846.1:c.-32-9401_-32-9400del	XM_047431846.1:c.-32-9400del	XM_047431846.1:c.-32-9400dup	XM_047431846.1:c.-32-9401_-32-9400dup	XM_047431846.1:c.-32-9402_-32-9400dup
DCAF5 transcript variant X8	XM_047431847.1:c.-32-9400=	XM_047431847.1:c.-32-9405_-32-9400del	XM_047431847.1:c.-32-9404_-32-9400del	XM_047431847.1:c.-32-9403_-32-9400del	XM_047431847.1:c.-32-9402_-32-9400del	XM_047431847.1:c.-32-9401_-32-9400del	XM_047431847.1:c.-32-9400del	XM_047431847.1:c.-32-9400dup	XM_047431847.1:c.-32-9401_-32-9400dup	XM_047431847.1:c.-32-9402_-32-9400dup

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#.

37 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss96892796	Oct 12, 2018 (152)
2	PJP	ss294837171	May 09, 2011 (137)
3	SSIP	ss947331641	Aug 21, 2014 (142)
4	EVA_GENOME_DK	ss1574777428	Apr 01, 2015 (144)
5	SWEGEN	ss3012398391	Nov 08, 2017 (151)
6	MCHAISSO	ss3065562305	Nov 08, 2017 (151)
7	URBANLAB	ss3650230831	Oct 12, 2018 (152)
8	EVA_DECODE	ss3696917702	Jul 13, 2019 (153)
9	EVA_DECODE	ss3696917703	Jul 13, 2019 (153)
10	EVA_DECODE	ss3696917704	Jul 13, 2019 (153)
11	ACPOP	ss3740488246	Jul 13, 2019 (153)
12	PACBIO	ss3787698917	Jul 13, 2019 (153)
13	PACBIO	ss3797616165	Jul 13, 2019 (153)
14	EVA	ss3833980722	Apr 27, 2020 (154)
15	EVA	ss3840581609	Apr 27, 2020 (154)
16	EVA	ss3846071072	Apr 27, 2020 (154)
17	GNOMAD	ss4280144419	Apr 26, 2021 (155)
18	GNOMAD	ss4280144420	Apr 26, 2021 (155)
19	GNOMAD	ss4280144421	Apr 26, 2021 (155)
20	GNOMAD	ss4280144423	Apr 26, 2021 (155)
21	GNOMAD	ss4280144424	Apr 26, 2021 (155)
22	GNOMAD	ss4280144425	Apr 26, 2021 (155)
23	GNOMAD	ss4280144426	Apr 26, 2021 (155)
24	GNOMAD	ss4280144427	Apr 26, 2021 (155)
25	TOPMED	ss4974857915	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5213778590	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5213778591	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5213778592	Apr 26, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5296646633	Oct 16, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5296646634	Oct 16, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5296646635	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5490648242	Oct 16, 2022 (156)
33	HUGCELL_USP	ss5490648243	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5766739187	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5766739188	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5766739189	Oct 16, 2022 (156)
37	EVA	ss5841276276	Oct 16, 2022 (156)
38	The Danish reference pan genome	NC_000014.8 - 69598477	Apr 27, 2020 (154)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454689466 (NC_000014.9:69131759::T 33185/122930) Row 454689467 (NC_000014.9:69131759::TT 107/123054) Row 454689468 (NC_000014.9:69131759::TTT 3/123082)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454689466 (NC_000014.9:69131759::T 33185/122930) Row 454689467 (NC_000014.9:69131759::TT 107/123054) Row 454689468 (NC_000014.9:69131759::TTT 3/123082)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454689466 (NC_000014.9:69131759::T 33185/122930) Row 454689467 (NC_000014.9:69131759::TT 107/123054) Row 454689468 (NC_000014.9:69131759::TTT 3/123082)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454689466 (NC_000014.9:69131759::T 33185/122930) Row 454689467 (NC_000014.9:69131759::TT 107/123054) Row 454689468 (NC_000014.9:69131759::TTT 3/123082)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454689466 (NC_000014.9:69131759::T 33185/122930) Row 454689467 (NC_000014.9:69131759::TT 107/123054) Row 454689468 (NC_000014.9:69131759::TTT 3/123082)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454689466 (NC_000014.9:69131759::T 33185/122930) Row 454689467 (NC_000014.9:69131759::TT 107/123054) Row 454689468 (NC_000014.9:69131759::TTT 3/123082)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454689466 (NC_000014.9:69131759::T 33185/122930) Row 454689467 (NC_000014.9:69131759::TT 107/123054) Row 454689468 (NC_000014.9:69131759::TTT 3/123082)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 454689466 (NC_000014.9:69131759::T 33185/122930) Row 454689467 (NC_000014.9:69131759::TT 107/123054) Row 454689468 (NC_000014.9:69131759::TTT 3/123082)...	-	Apr 26, 2021 (155)
47	Northern Sweden	NC_000014.8 - 69598477	Jul 13, 2019 (153)
48	8.3KJPN Submission ignored due to conflicting rows: Row 71747897 (NC_000014.8:69598476:T: 105/16760) Row 71747898 (NC_000014.8:69598476::T 39/16760) Row 71747899 (NC_000014.8:69598476:TTTTT: 3/16760)	-	Apr 26, 2021 (155)
49	8.3KJPN Submission ignored due to conflicting rows: Row 71747897 (NC_000014.8:69598476:T: 105/16760) Row 71747898 (NC_000014.8:69598476::T 39/16760) Row 71747899 (NC_000014.8:69598476:TTTTT: 3/16760)	-	Apr 26, 2021 (155)
50	8.3KJPN Submission ignored due to conflicting rows: Row 71747897 (NC_000014.8:69598476:T: 105/16760) Row 71747898 (NC_000014.8:69598476::T 39/16760) Row 71747899 (NC_000014.8:69598476:TTTTT: 3/16760)	-	Apr 26, 2021 (155)
51	14KJPN Submission ignored due to conflicting rows: Row 100576291 (NC_000014.9:69131759::T 75/28258) Row 100576292 (NC_000014.9:69131759:T: 165/28258) Row 100576293 (NC_000014.9:69131759:TTTTT: 6/28258)	-	Oct 16, 2022 (156)
52	14KJPN Submission ignored due to conflicting rows: Row 100576291 (NC_000014.9:69131759::T 75/28258) Row 100576292 (NC_000014.9:69131759:T: 165/28258) Row 100576293 (NC_000014.9:69131759:TTTTT: 6/28258)	-	Oct 16, 2022 (156)
53	14KJPN Submission ignored due to conflicting rows: Row 100576291 (NC_000014.9:69131759::T 75/28258) Row 100576292 (NC_000014.9:69131759:T: 165/28258) Row 100576293 (NC_000014.9:69131759:TTTTT: 6/28258)	-	Oct 16, 2022 (156)
54	TopMed	NC_000014.9 - 69131760	Apr 26, 2021 (155)
55	ALFA	NC_000014.9 - 69131760	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)
rs71446372	May 11, 2012 (137)
rs141365883	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
190403574, ss4280144427, ss4974857915	NC_000014.9:69131759:TTTTTT:	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTT	(self)
9598483839	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTT	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss5213778592	NC_000014.8:69598476:TTTTT:	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss5766739189	NC_000014.9:69131759:TTTTT:	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTT
9598483839	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4280144426	NC_000014.9:69131759:TTTT:	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
9598483839	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4280144425	NC_000014.9:69131759:TTT:	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
9598483839	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4280144424	NC_000014.9:69131759:TT:	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
9598483839	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3012398391, ss5213778590	NC_000014.8:69598476:T:	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3065562305, ss3696917702, ss4280144423, ss5296646634, ss5490648243, ss5766739188	NC_000014.9:69131759:T:	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
9598483839	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss294837171	NC_000014.7:68668230::T	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
458443, 13773111, ss1574777428, ss3740488246, ss3787698917, ss3797616165, ss3833980722, ss3840581609, ss5213778591, ss5841276276	NC_000014.8:69598476::T	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss947331641	NC_000014.8:69598477::T	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3650230831, ss3846071072, ss4280144419, ss5296646633, ss5490648242, ss5766739187	NC_000014.9:69131759::T	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
9598483839	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3696917703	NC_000014.9:69131760::T	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss96892796	NT_026437.12:50598491::T	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4280144420, ss5296646635	NC_000014.9:69131759::TT	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
9598483839	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3696917704	NC_000014.9:69131760::TT	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4280144421	NC_000014.9:69131759::TTT	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2367362401	NC_000014.8:69598476:TTTT:	NC_000014.9:69131759:TTTTTTTTTTTTT… NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTT

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

No publications for rs11458918

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11458918