Name: rs71014176
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.

rs71014176

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:21249940-21249958 (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)₇ / del(T)₆ / del(T)₄ / delT…
del(T)₇ / del(T)₆ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆
Variation Type: Indel Insertion and Deletion
Frequency: dup(T)₄=0.04633 (514/11094, ALFA)
delT=0.1619 (811/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ECE1 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

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	11094	(T)₁₉=0.92879	del(T)₇=0.00000, del(T)₆=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00054, dupT=0.00279, dupTT=0.02100, dupTTT=0.00000, dup(T)₄=0.04633, dup(T)₅=0.00054, dup(T)₆=0.00000
Allele Frequency Aggregator	European	Sub	9152	(T)₁₉=0.9140	del(T)₇=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0007, dupT=0.0034, dupTT=0.0253, dupTTT=0.0000, dup(T)₄=0.0559, dup(T)₅=0.0007, dup(T)₆=0.0000
Allele Frequency Aggregator	African	Sub	1050	(T)₁₉=1.0000	del(T)₇=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	410	(T)₁₉=1.000	del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000
Allele Frequency Aggregator	Other	Sub	272	(T)₁₉=0.989	del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.004, dupTTT=0.000, dup(T)₄=0.007, dup(T)₅=0.000, dup(T)₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	84	(T)₁₉=1.00	del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00
Allele Frequency Aggregator	Asian	Sub	76	(T)₁₉=1.00	del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	50	(T)₁₉=1.00	del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₉=0.8381	delT=0.1619
1000Genomes	African	Sub	1322	(T)₁₉=0.7693	delT=0.2307
1000Genomes	East Asian	Sub	1008	(T)₁₉=0.8601	delT=0.1399
1000Genomes	Europe	Sub	1006	(T)₁₉=0.8837	delT=0.1163
1000Genomes	South Asian	Sub	978	(T)₁₉=0.873	delT=0.127
1000Genomes	American	Sub	694	(T)₁₉=0.821	delT=0.179

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 1	NC_000001.11:g.21249952_21249958del
GRCh38.p14 chr 1	NC_000001.11:g.21249953_21249958del
GRCh38.p14 chr 1	NC_000001.11:g.21249955_21249958del
GRCh38.p14 chr 1	NC_000001.11:g.21249956_21249958del
GRCh38.p14 chr 1	NC_000001.11:g.21249957_21249958del
GRCh38.p14 chr 1	NC_000001.11:g.21249958del
GRCh38.p14 chr 1	NC_000001.11:g.21249958dup
GRCh38.p14 chr 1	NC_000001.11:g.21249957_21249958dup
GRCh38.p14 chr 1	NC_000001.11:g.21249956_21249958dup
GRCh38.p14 chr 1	NC_000001.11:g.21249955_21249958dup
GRCh38.p14 chr 1	NC_000001.11:g.21249954_21249958dup
GRCh38.p14 chr 1	NC_000001.11:g.21249953_21249958dup
GRCh37.p13 chr 1	NC_000001.10:g.21576445_21576451del
GRCh37.p13 chr 1	NC_000001.10:g.21576446_21576451del
GRCh37.p13 chr 1	NC_000001.10:g.21576448_21576451del
GRCh37.p13 chr 1	NC_000001.10:g.21576449_21576451del
GRCh37.p13 chr 1	NC_000001.10:g.21576450_21576451del
GRCh37.p13 chr 1	NC_000001.10:g.21576451del
GRCh37.p13 chr 1	NC_000001.10:g.21576451dup
GRCh37.p13 chr 1	NC_000001.10:g.21576450_21576451dup
GRCh37.p13 chr 1	NC_000001.10:g.21576449_21576451dup
GRCh37.p13 chr 1	NC_000001.10:g.21576448_21576451dup
GRCh37.p13 chr 1	NC_000001.10:g.21576447_21576451dup
GRCh37.p13 chr 1	NC_000001.10:g.21576446_21576451dup
ECE1 RefSeqGene	NG_013008.2:g.100596_100602del
ECE1 RefSeqGene	NG_013008.2:g.100597_100602del
ECE1 RefSeqGene	NG_013008.2:g.100599_100602del
ECE1 RefSeqGene	NG_013008.2:g.100600_100602del
ECE1 RefSeqGene	NG_013008.2:g.100601_100602del
ECE1 RefSeqGene	NG_013008.2:g.100602del
ECE1 RefSeqGene	NG_013008.2:g.100602dup
ECE1 RefSeqGene	NG_013008.2:g.100601_100602dup
ECE1 RefSeqGene	NG_013008.2:g.100600_100602dup
ECE1 RefSeqGene	NG_013008.2:g.100599_100602dup
ECE1 RefSeqGene	NG_013008.2:g.100598_100602dup
ECE1 RefSeqGene	NG_013008.2:g.100597_100602dup

Gene: ECE1, endothelin converting enzyme 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ECE1 transcript variant 3	NM_001113347.2:c.985-2583… NM_001113347.2:c.985-2583_985-2577del	N/A	Intron Variant
ECE1 transcript variant 4	NM_001113348.2:c.973-2583… NM_001113348.2:c.973-2583_973-2577del	N/A	Intron Variant
ECE1 transcript variant 2	NM_001113349.2:c.1012-258… NM_001113349.2:c.1012-2583_1012-2577del	N/A	Intron Variant
ECE1 transcript variant 1	NM_001397.3:c.1021-2583_1… NM_001397.3:c.1021-2583_1021-2577del	N/A	Intron Variant
ECE1 transcript variant X3	XM_006710398.3:c.970-2583… XM_006710398.3:c.970-2583_970-2577del	N/A	Intron Variant
ECE1 transcript variant X1	XM_011540872.3:c.1045-258… XM_011540872.3:c.1045-2583_1045-2577del	N/A	Intron Variant
ECE1 transcript variant X4	XM_011540873.3:c.970-2583… XM_011540873.3:c.970-2583_970-2577del	N/A	Intron Variant
ECE1 transcript variant X2	XM_047448096.1:c.970-2583… XM_047448096.1:c.970-2583_970-2577del	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)₁₉=	del(T)₇	del(T)₆	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆
GRCh38.p14 chr 1	NC_000001.11:g.21249940_21249958=	NC_000001.11:g.21249952_21249958del	NC_000001.11:g.21249953_21249958del	NC_000001.11:g.21249955_21249958del	NC_000001.11:g.21249956_21249958del	NC_000001.11:g.21249957_21249958del	NC_000001.11:g.21249958del	NC_000001.11:g.21249958dup	NC_000001.11:g.21249957_21249958dup	NC_000001.11:g.21249956_21249958dup	NC_000001.11:g.21249955_21249958dup	NC_000001.11:g.21249954_21249958dup	NC_000001.11:g.21249953_21249958dup
GRCh37.p13 chr 1	NC_000001.10:g.21576433_21576451=	NC_000001.10:g.21576445_21576451del	NC_000001.10:g.21576446_21576451del	NC_000001.10:g.21576448_21576451del	NC_000001.10:g.21576449_21576451del	NC_000001.10:g.21576450_21576451del	NC_000001.10:g.21576451del	NC_000001.10:g.21576451dup	NC_000001.10:g.21576450_21576451dup	NC_000001.10:g.21576449_21576451dup	NC_000001.10:g.21576448_21576451dup	NC_000001.10:g.21576447_21576451dup	NC_000001.10:g.21576446_21576451dup
ECE1 RefSeqGene	NG_013008.2:g.100584_100602=	NG_013008.2:g.100596_100602del	NG_013008.2:g.100597_100602del	NG_013008.2:g.100599_100602del	NG_013008.2:g.100600_100602del	NG_013008.2:g.100601_100602del	NG_013008.2:g.100602del	NG_013008.2:g.100602dup	NG_013008.2:g.100601_100602dup	NG_013008.2:g.100600_100602dup	NG_013008.2:g.100599_100602dup	NG_013008.2:g.100598_100602dup	NG_013008.2:g.100597_100602dup
ECE1 transcript variant 3	NM_001113347.1:c.985-2577=	NM_001113347.1:c.985-2583_985-2577del	NM_001113347.1:c.985-2582_985-2577del	NM_001113347.1:c.985-2580_985-2577del	NM_001113347.1:c.985-2579_985-2577del	NM_001113347.1:c.985-2578_985-2577del	NM_001113347.1:c.985-2577del	NM_001113347.1:c.985-2577dup	NM_001113347.1:c.985-2578_985-2577dup	NM_001113347.1:c.985-2579_985-2577dup	NM_001113347.1:c.985-2580_985-2577dup	NM_001113347.1:c.985-2581_985-2577dup	NM_001113347.1:c.985-2582_985-2577dup
ECE1 transcript variant 3	NM_001113347.2:c.985-2577=	NM_001113347.2:c.985-2583_985-2577del	NM_001113347.2:c.985-2582_985-2577del	NM_001113347.2:c.985-2580_985-2577del	NM_001113347.2:c.985-2579_985-2577del	NM_001113347.2:c.985-2578_985-2577del	NM_001113347.2:c.985-2577del	NM_001113347.2:c.985-2577dup	NM_001113347.2:c.985-2578_985-2577dup	NM_001113347.2:c.985-2579_985-2577dup	NM_001113347.2:c.985-2580_985-2577dup	NM_001113347.2:c.985-2581_985-2577dup	NM_001113347.2:c.985-2582_985-2577dup
ECE1 transcript variant 4	NM_001113348.1:c.973-2577=	NM_001113348.1:c.973-2583_973-2577del	NM_001113348.1:c.973-2582_973-2577del	NM_001113348.1:c.973-2580_973-2577del	NM_001113348.1:c.973-2579_973-2577del	NM_001113348.1:c.973-2578_973-2577del	NM_001113348.1:c.973-2577del	NM_001113348.1:c.973-2577dup	NM_001113348.1:c.973-2578_973-2577dup	NM_001113348.1:c.973-2579_973-2577dup	NM_001113348.1:c.973-2580_973-2577dup	NM_001113348.1:c.973-2581_973-2577dup	NM_001113348.1:c.973-2582_973-2577dup
ECE1 transcript variant 4	NM_001113348.2:c.973-2577=	NM_001113348.2:c.973-2583_973-2577del	NM_001113348.2:c.973-2582_973-2577del	NM_001113348.2:c.973-2580_973-2577del	NM_001113348.2:c.973-2579_973-2577del	NM_001113348.2:c.973-2578_973-2577del	NM_001113348.2:c.973-2577del	NM_001113348.2:c.973-2577dup	NM_001113348.2:c.973-2578_973-2577dup	NM_001113348.2:c.973-2579_973-2577dup	NM_001113348.2:c.973-2580_973-2577dup	NM_001113348.2:c.973-2581_973-2577dup	NM_001113348.2:c.973-2582_973-2577dup
ECE1 transcript variant 2	NM_001113349.1:c.1012-2577=	NM_001113349.1:c.1012-2583_1012-2577del	NM_001113349.1:c.1012-2582_1012-2577del	NM_001113349.1:c.1012-2580_1012-2577del	NM_001113349.1:c.1012-2579_1012-2577del	NM_001113349.1:c.1012-2578_1012-2577del	NM_001113349.1:c.1012-2577del	NM_001113349.1:c.1012-2577dup	NM_001113349.1:c.1012-2578_1012-2577dup	NM_001113349.1:c.1012-2579_1012-2577dup	NM_001113349.1:c.1012-2580_1012-2577dup	NM_001113349.1:c.1012-2581_1012-2577dup	NM_001113349.1:c.1012-2582_1012-2577dup
ECE1 transcript variant 2	NM_001113349.2:c.1012-2577=	NM_001113349.2:c.1012-2583_1012-2577del	NM_001113349.2:c.1012-2582_1012-2577del	NM_001113349.2:c.1012-2580_1012-2577del	NM_001113349.2:c.1012-2579_1012-2577del	NM_001113349.2:c.1012-2578_1012-2577del	NM_001113349.2:c.1012-2577del	NM_001113349.2:c.1012-2577dup	NM_001113349.2:c.1012-2578_1012-2577dup	NM_001113349.2:c.1012-2579_1012-2577dup	NM_001113349.2:c.1012-2580_1012-2577dup	NM_001113349.2:c.1012-2581_1012-2577dup	NM_001113349.2:c.1012-2582_1012-2577dup
ECE1 transcript variant 1	NM_001397.2:c.1021-2577=	NM_001397.2:c.1021-2583_1021-2577del	NM_001397.2:c.1021-2582_1021-2577del	NM_001397.2:c.1021-2580_1021-2577del	NM_001397.2:c.1021-2579_1021-2577del	NM_001397.2:c.1021-2578_1021-2577del	NM_001397.2:c.1021-2577del	NM_001397.2:c.1021-2577dup	NM_001397.2:c.1021-2578_1021-2577dup	NM_001397.2:c.1021-2579_1021-2577dup	NM_001397.2:c.1021-2580_1021-2577dup	NM_001397.2:c.1021-2581_1021-2577dup	NM_001397.2:c.1021-2582_1021-2577dup
ECE1 transcript variant 1	NM_001397.3:c.1021-2577=	NM_001397.3:c.1021-2583_1021-2577del	NM_001397.3:c.1021-2582_1021-2577del	NM_001397.3:c.1021-2580_1021-2577del	NM_001397.3:c.1021-2579_1021-2577del	NM_001397.3:c.1021-2578_1021-2577del	NM_001397.3:c.1021-2577del	NM_001397.3:c.1021-2577dup	NM_001397.3:c.1021-2578_1021-2577dup	NM_001397.3:c.1021-2579_1021-2577dup	NM_001397.3:c.1021-2580_1021-2577dup	NM_001397.3:c.1021-2581_1021-2577dup	NM_001397.3:c.1021-2582_1021-2577dup
ECE1 transcript variant X1	XM_005245750.1:c.1021-2577=	XM_005245750.1:c.1021-2583_1021-2577del	XM_005245750.1:c.1021-2582_1021-2577del	XM_005245750.1:c.1021-2580_1021-2577del	XM_005245750.1:c.1021-2579_1021-2577del	XM_005245750.1:c.1021-2578_1021-2577del	XM_005245750.1:c.1021-2577del	XM_005245750.1:c.1021-2577dup	XM_005245750.1:c.1021-2578_1021-2577dup	XM_005245750.1:c.1021-2579_1021-2577dup	XM_005245750.1:c.1021-2580_1021-2577dup	XM_005245750.1:c.1021-2581_1021-2577dup	XM_005245750.1:c.1021-2582_1021-2577dup
ECE1 transcript variant X3	XM_006710398.3:c.970-2577=	XM_006710398.3:c.970-2583_970-2577del	XM_006710398.3:c.970-2582_970-2577del	XM_006710398.3:c.970-2580_970-2577del	XM_006710398.3:c.970-2579_970-2577del	XM_006710398.3:c.970-2578_970-2577del	XM_006710398.3:c.970-2577del	XM_006710398.3:c.970-2577dup	XM_006710398.3:c.970-2578_970-2577dup	XM_006710398.3:c.970-2579_970-2577dup	XM_006710398.3:c.970-2580_970-2577dup	XM_006710398.3:c.970-2581_970-2577dup	XM_006710398.3:c.970-2582_970-2577dup
ECE1 transcript variant X1	XM_011540872.3:c.1045-2577=	XM_011540872.3:c.1045-2583_1045-2577del	XM_011540872.3:c.1045-2582_1045-2577del	XM_011540872.3:c.1045-2580_1045-2577del	XM_011540872.3:c.1045-2579_1045-2577del	XM_011540872.3:c.1045-2578_1045-2577del	XM_011540872.3:c.1045-2577del	XM_011540872.3:c.1045-2577dup	XM_011540872.3:c.1045-2578_1045-2577dup	XM_011540872.3:c.1045-2579_1045-2577dup	XM_011540872.3:c.1045-2580_1045-2577dup	XM_011540872.3:c.1045-2581_1045-2577dup	XM_011540872.3:c.1045-2582_1045-2577dup
ECE1 transcript variant X4	XM_011540873.3:c.970-2577=	XM_011540873.3:c.970-2583_970-2577del	XM_011540873.3:c.970-2582_970-2577del	XM_011540873.3:c.970-2580_970-2577del	XM_011540873.3:c.970-2579_970-2577del	XM_011540873.3:c.970-2578_970-2577del	XM_011540873.3:c.970-2577del	XM_011540873.3:c.970-2577dup	XM_011540873.3:c.970-2578_970-2577dup	XM_011540873.3:c.970-2579_970-2577dup	XM_011540873.3:c.970-2580_970-2577dup	XM_011540873.3:c.970-2581_970-2577dup	XM_011540873.3:c.970-2582_970-2577dup
ECE1 transcript variant X2	XM_047448096.1:c.970-2577=	XM_047448096.1:c.970-2583_970-2577del	XM_047448096.1:c.970-2582_970-2577del	XM_047448096.1:c.970-2580_970-2577del	XM_047448096.1:c.970-2579_970-2577del	XM_047448096.1:c.970-2578_970-2577del	XM_047448096.1:c.970-2577del	XM_047448096.1:c.970-2577dup	XM_047448096.1:c.970-2578_970-2577dup	XM_047448096.1:c.970-2579_970-2577dup	XM_047448096.1:c.970-2580_970-2577dup	XM_047448096.1:c.970-2581_970-2577dup	XM_047448096.1:c.970-2582_970-2577dup

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#.

56 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95223292	Feb 13, 2009 (130)
2	PJP	ss294569117	May 09, 2011 (137)
3	SSMP	ss663156666	Apr 01, 2015 (144)
4	SSIP	ss947015116	Aug 21, 2014 (142)
5	1000GENOMES	ss1367670386	Aug 21, 2014 (142)
6	EVA_UK10K_TWINSUK	ss1700351961	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1700351962	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1700351965	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1700351967	Apr 01, 2015 (144)
10	SWEGEN	ss2986440339	Nov 08, 2017 (151)
11	MCHAISSO	ss3063579979	Nov 08, 2017 (151)
12	MCHAISSO	ss3065290983	Nov 08, 2017 (151)
13	URBANLAB	ss3646618587	Oct 11, 2018 (152)
14	EVA_DECODE	ss3686314627	Jul 12, 2019 (153)
15	EVA_DECODE	ss3686314628	Jul 12, 2019 (153)
16	EVA_DECODE	ss3686314629	Jul 12, 2019 (153)
17	EVA_DECODE	ss3686314630	Jul 12, 2019 (153)
18	EVA_DECODE	ss3686314631	Jul 12, 2019 (153)
19	KHV_HUMAN_GENOMES	ss3798941543	Jul 12, 2019 (153)
20	EVA	ss3826062725	Apr 25, 2020 (154)
21	GNOMAD	ss3989573514	Apr 27, 2021 (155)
22	GNOMAD	ss3989573515	Apr 27, 2021 (155)
23	GNOMAD	ss3989573516	Apr 27, 2021 (155)
24	GNOMAD	ss3989573517	Apr 27, 2021 (155)
25	GNOMAD	ss3989573518	Apr 27, 2021 (155)
26	GNOMAD	ss3989573519	Apr 27, 2021 (155)
27	GNOMAD	ss3989573521	Apr 27, 2021 (155)
28	GNOMAD	ss3989573522	Apr 27, 2021 (155)
29	GNOMAD	ss3989573523	Apr 27, 2021 (155)
30	GNOMAD	ss3989573524	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5142856621	Apr 27, 2021 (155)
32	TOMMO_GENOMICS	ss5142856622	Apr 27, 2021 (155)
33	TOMMO_GENOMICS	ss5142856623	Apr 27, 2021 (155)
34	TOMMO_GENOMICS	ss5142856624	Apr 27, 2021 (155)
35	TOMMO_GENOMICS	ss5142856625	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5142856626	Apr 27, 2021 (155)
37	1000G_HIGH_COVERAGE	ss5241454022	Oct 12, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5241454023	Oct 12, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5241454024	Oct 12, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5241454025	Oct 12, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5241454026	Oct 12, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5241454027	Oct 12, 2022 (156)
43	HUGCELL_USP	ss5442610195	Oct 12, 2022 (156)
44	HUGCELL_USP	ss5442610196	Oct 12, 2022 (156)
45	HUGCELL_USP	ss5442610197	Oct 12, 2022 (156)
46	HUGCELL_USP	ss5442610198	Oct 12, 2022 (156)
47	HUGCELL_USP	ss5442610199	Oct 12, 2022 (156)
48	HUGCELL_USP	ss5442610200	Oct 12, 2022 (156)
49	TOMMO_GENOMICS	ss5667271151	Oct 12, 2022 (156)
50	TOMMO_GENOMICS	ss5667271152	Oct 12, 2022 (156)
51	TOMMO_GENOMICS	ss5667271153	Oct 12, 2022 (156)
52	TOMMO_GENOMICS	ss5667271154	Oct 12, 2022 (156)
53	TOMMO_GENOMICS	ss5667271155	Oct 12, 2022 (156)
54	TOMMO_GENOMICS	ss5667271156	Oct 12, 2022 (156)
55	EVA	ss5831647226	Oct 12, 2022 (156)
56	EVA	ss5831647227	Oct 12, 2022 (156)
57	1000Genomes	NC_000001.10 - 21576433	Oct 11, 2018 (152)
58	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 349743 (NC_000001.10:21576432::TT 391/3854) Row 349744 (NC_000001.10:21576432::TTTT 432/3854)	-	Oct 11, 2018 (152)
59	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 349743 (NC_000001.10:21576432::TT 391/3854) Row 349744 (NC_000001.10:21576432::TTTT 432/3854)	-	Oct 11, 2018 (152)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4603785 (NC_000001.11:21249939::T 1979/123748) Row 4603786 (NC_000001.11:21249939::TT 8253/123716) Row 4603787 (NC_000001.11:21249939::TTT 306/123746)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4603785 (NC_000001.11:21249939::T 1979/123748) Row 4603786 (NC_000001.11:21249939::TT 8253/123716) Row 4603787 (NC_000001.11:21249939::TTT 306/123746)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4603785 (NC_000001.11:21249939::T 1979/123748) Row 4603786 (NC_000001.11:21249939::TT 8253/123716) Row 4603787 (NC_000001.11:21249939::TTT 306/123746)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4603785 (NC_000001.11:21249939::T 1979/123748) Row 4603786 (NC_000001.11:21249939::TT 8253/123716) Row 4603787 (NC_000001.11:21249939::TTT 306/123746)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4603785 (NC_000001.11:21249939::T 1979/123748) Row 4603786 (NC_000001.11:21249939::TT 8253/123716) Row 4603787 (NC_000001.11:21249939::TTT 306/123746)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4603785 (NC_000001.11:21249939::T 1979/123748) Row 4603786 (NC_000001.11:21249939::TT 8253/123716) Row 4603787 (NC_000001.11:21249939::TTT 306/123746)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4603785 (NC_000001.11:21249939::T 1979/123748) Row 4603786 (NC_000001.11:21249939::TT 8253/123716) Row 4603787 (NC_000001.11:21249939::TTT 306/123746)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4603785 (NC_000001.11:21249939::T 1979/123748) Row 4603786 (NC_000001.11:21249939::TT 8253/123716) Row 4603787 (NC_000001.11:21249939::TTT 306/123746)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4603785 (NC_000001.11:21249939::T 1979/123748) Row 4603786 (NC_000001.11:21249939::TT 8253/123716) Row 4603787 (NC_000001.11:21249939::TTT 306/123746)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4603785 (NC_000001.11:21249939::T 1979/123748) Row 4603786 (NC_000001.11:21249939::TT 8253/123716) Row 4603787 (NC_000001.11:21249939::TTT 306/123746)...	-	Apr 27, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 825928 (NC_000001.10:21576432::TTTT 3009/16730) Row 825929 (NC_000001.10:21576432::T 143/16730) Row 825930 (NC_000001.10:21576432::TTT 130/16730)...	-	Apr 27, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 825928 (NC_000001.10:21576432::TTTT 3009/16730) Row 825929 (NC_000001.10:21576432::T 143/16730) Row 825930 (NC_000001.10:21576432::TTT 130/16730)...	-	Apr 27, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 825928 (NC_000001.10:21576432::TTTT 3009/16730) Row 825929 (NC_000001.10:21576432::T 143/16730) Row 825930 (NC_000001.10:21576432::TTT 130/16730)...	-	Apr 27, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 825928 (NC_000001.10:21576432::TTTT 3009/16730) Row 825929 (NC_000001.10:21576432::T 143/16730) Row 825930 (NC_000001.10:21576432::TTT 130/16730)...	-	Apr 27, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 825928 (NC_000001.10:21576432::TTTT 3009/16730) Row 825929 (NC_000001.10:21576432::T 143/16730) Row 825930 (NC_000001.10:21576432::TTT 130/16730)...	-	Apr 27, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 825928 (NC_000001.10:21576432::TTTT 3009/16730) Row 825929 (NC_000001.10:21576432::T 143/16730) Row 825930 (NC_000001.10:21576432::TTT 130/16730)...	-	Apr 27, 2021 (155)
76	14KJPN Submission ignored due to conflicting rows: Row 1108255 (NC_000001.11:21249939::TTTT 4593/28174) Row 1108256 (NC_000001.11:21249939::T 234/28174) Row 1108257 (NC_000001.11:21249939:T: 118/28174)...	-	Oct 12, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 1108255 (NC_000001.11:21249939::TTTT 4593/28174) Row 1108256 (NC_000001.11:21249939::T 234/28174) Row 1108257 (NC_000001.11:21249939:T: 118/28174)...	-	Oct 12, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 1108255 (NC_000001.11:21249939::TTTT 4593/28174) Row 1108256 (NC_000001.11:21249939::T 234/28174) Row 1108257 (NC_000001.11:21249939:T: 118/28174)...	-	Oct 12, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 1108255 (NC_000001.11:21249939::TTTT 4593/28174) Row 1108256 (NC_000001.11:21249939::T 234/28174) Row 1108257 (NC_000001.11:21249939:T: 118/28174)...	-	Oct 12, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 1108255 (NC_000001.11:21249939::TTTT 4593/28174) Row 1108256 (NC_000001.11:21249939::T 234/28174) Row 1108257 (NC_000001.11:21249939:T: 118/28174)...	-	Oct 12, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 1108255 (NC_000001.11:21249939::TTTT 4593/28174) Row 1108256 (NC_000001.11:21249939::T 234/28174) Row 1108257 (NC_000001.11:21249939:T: 118/28174)...	-	Oct 12, 2022 (156)
82	UK 10K study - Twins Submission ignored due to conflicting rows: Row 349743 (NC_000001.10:21576432::TT 349/3708) Row 349744 (NC_000001.10:21576432::TTTT 412/3708)	-	Oct 11, 2018 (152)
83	UK 10K study - Twins Submission ignored due to conflicting rows: Row 349743 (NC_000001.10:21576432::TT 349/3708) Row 349744 (NC_000001.10:21576432::TTTT 412/3708)	-	Oct 11, 2018 (152)
84	ALFA	NC_000001.11 - 21249940	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)
rs141898808	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3020109369	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
3020109369	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3989573524	NC_000001.11:21249939:TTTT:	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
3020109369	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3989573523	NC_000001.11:21249939:TTT:	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
3020109369	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3989573522	NC_000001.11:21249939:TT:	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
3020109369	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
661557, ss1367670386, ss2986440339, ss3826062725, ss5142856624	NC_000001.10:21576432:T:	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3686314627, ss3798941543, ss3989573521, ss5241454024, ss5442610195, ss5667271153	NC_000001.11:21249939:T:	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
3020109369	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5142856622	NC_000001.10:21576432::T	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3989573514, ss5241454027, ss5442610196, ss5667271152	NC_000001.11:21249939::T	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
3020109369	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3686314628	NC_000001.11:21249940::T	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss294569117	NC_000001.9:21449037::TT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss1700351961, ss1700351962, ss5142856626	NC_000001.10:21576432::TT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3646618587, ss3989573515, ss5241454022, ss5442610197, ss5667271156	NC_000001.11:21249939::TT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
3020109369	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3686314629	NC_000001.11:21249940::TT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss95223292	NT_004610.19:8256539::TT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5142856623, ss5831647227	NC_000001.10:21576432::TTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3989573516, ss5241454026, ss5442610200, ss5667271154	NC_000001.11:21249939::TTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
3020109369	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3686314630	NC_000001.11:21249940::TTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss663156666, ss1700351965, ss1700351967, ss5142856621, ss5831647226	NC_000001.10:21576432::TTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss947015116	NC_000001.10:21576433::TTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3063579979, ss3065290983, ss3989573517, ss5241454025, ss5442610199, ss5667271151	NC_000001.11:21249939::TTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
3020109369	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3686314631	NC_000001.11:21249940::TTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5142856625	NC_000001.10:21576432::TTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3989573518, ss5241454023, ss5442610198, ss5667271155	NC_000001.11:21249939::TTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
3020109369	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3989573519	NC_000001.11:21249939::TTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3020109369	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:21249939:TTTTTTTTTTTT… NC_000001.11:21249939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs71014176

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

rs71014176