Name: rs71130650
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.

rs71130650

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:184067925-184067942 (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(A)₆ / del(A)₅ / del(A)₄ / delA…
del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₃ / dup(A)₁₆ / dup(A)₁₈ / ins(A)₂₀ / ins(A)₂₁
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₅=0.00000 (0/10010, ALFA)
del(A)₄=0.00000 (0/10010, ALFA)
delAAA=0.00000 (0/10010, ALFA) (+ 12 more)
delAA=0.00000 (0/10010, ALFA)
delA=0.00000 (0/10010, ALFA)
dupA=0.00000 (0/10010, ALFA)
dupAA=0.00000 (0/10010, ALFA)
dupAAA=0.00000 (0/10010, ALFA)
dup(A)₄=0.00000 (0/10010, ALFA)
dup(A)₅=0.00000 (0/10010, ALFA)
dup(A)₆=0.00000 (0/10010, ALFA)
dup(A)₇=0.00000 (0/10010, ALFA)
dup(A)₈=0.00000 (0/10010, ALFA)
dup(A)₉=0.00000 (0/10010, ALFA)
dup(A)₁₀=0.00000 (0/10010, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TSEN15 : 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	HWEP
Total	Global	10010	AAAAAAAAAAAAAAAAAA=1.00000	AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000	1.0	N/A
European	Sub	6778	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	2002	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	66	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1936	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	98	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	76	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	22	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	132	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Latin American 2	Sub	528	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	76	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	396	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A

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	10010	(A)₁₈=1.00000	del(A)₅=0.00000, del(A)₄=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00000, dupA=0.00000, dupAA=0.00000, dupAAA=0.00000, dup(A)₄=0.00000, dup(A)₅=0.00000, dup(A)₆=0.00000, dup(A)₇=0.00000, dup(A)₈=0.00000, dup(A)₉=0.00000, dup(A)₁₀=0.00000
Allele Frequency Aggregator	European	Sub	6778	(A)₁₈=1.0000	del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000, dup(A)₇=0.0000, dup(A)₈=0.0000, dup(A)₉=0.0000, dup(A)₁₀=0.0000
Allele Frequency Aggregator	African	Sub	2002	(A)₁₈=1.0000	del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000, dup(A)₇=0.0000, dup(A)₈=0.0000, dup(A)₉=0.0000, dup(A)₁₀=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	528	(A)₁₈=1.000	del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000, dup(A)₈=0.000, dup(A)₉=0.000, dup(A)₁₀=0.000
Allele Frequency Aggregator	Other	Sub	396	(A)₁₈=1.000	del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000, dup(A)₈=0.000, dup(A)₉=0.000, dup(A)₁₀=0.000
Allele Frequency Aggregator	Latin American 1	Sub	132	(A)₁₈=1.000	del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000, dup(A)₈=0.000, dup(A)₉=0.000, dup(A)₁₀=0.000
Allele Frequency Aggregator	Asian	Sub	98	(A)₁₈=1.00	del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00, dup(A)₈=0.00, dup(A)₉=0.00, dup(A)₁₀=0.00
Allele Frequency Aggregator	South Asian	Sub	76	(A)₁₈=1.00	del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00, dup(A)₈=0.00, dup(A)₉=0.00, dup(A)₁₀=0.00

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.184067937_184067942del
GRCh38.p14 chr 1	NC_000001.11:g.184067938_184067942del
GRCh38.p14 chr 1	NC_000001.11:g.184067939_184067942del
GRCh38.p14 chr 1	NC_000001.11:g.184067940_184067942del
GRCh38.p14 chr 1	NC_000001.11:g.184067941_184067942del
GRCh38.p14 chr 1	NC_000001.11:g.184067942del
GRCh38.p14 chr 1	NC_000001.11:g.184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067941_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067940_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067939_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067938_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067937_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067936_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067935_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067934_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067933_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067932_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067930_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067927_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067925_184067942dup
GRCh38.p14 chr 1	NC_000001.11:g.184067942_184067943insAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1	NC_000001.11:g.184067942_184067943insAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1	NC_000001.10:g.184037071_184037076del
GRCh37.p13 chr 1	NC_000001.10:g.184037072_184037076del
GRCh37.p13 chr 1	NC_000001.10:g.184037073_184037076del
GRCh37.p13 chr 1	NC_000001.10:g.184037074_184037076del
GRCh37.p13 chr 1	NC_000001.10:g.184037075_184037076del
GRCh37.p13 chr 1	NC_000001.10:g.184037076del
GRCh37.p13 chr 1	NC_000001.10:g.184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037075_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037074_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037073_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037072_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037071_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037070_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037069_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037068_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037067_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037066_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037064_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037061_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037059_184037076dup
GRCh37.p13 chr 1	NC_000001.10:g.184037076_184037077insAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1	NC_000001.10:g.184037076_184037077insAAAAAAAAAAAAAAAAAAAAA
TSEN15 RefSeqGene	NG_050569.1:g.21287_21292del
TSEN15 RefSeqGene	NG_050569.1:g.21288_21292del
TSEN15 RefSeqGene	NG_050569.1:g.21289_21292del
TSEN15 RefSeqGene	NG_050569.1:g.21290_21292del
TSEN15 RefSeqGene	NG_050569.1:g.21291_21292del
TSEN15 RefSeqGene	NG_050569.1:g.21292del
TSEN15 RefSeqGene	NG_050569.1:g.21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21291_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21290_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21289_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21288_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21287_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21286_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21285_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21284_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21283_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21282_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21280_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21277_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21275_21292dup
TSEN15 RefSeqGene	NG_050569.1:g.21292_21293insAAAAAAAAAAAAAAAAAAAA
TSEN15 RefSeqGene	NG_050569.1:g.21292_21293insAAAAAAAAAAAAAAAAAAAAA

Gene: TSEN15, tRNA splicing endonuclease subunit 15 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TSEN15 transcript variant 2	NM_001127394.4:c.354-4890… NM_001127394.4:c.354-4890_354-4885del	N/A	Intron Variant
TSEN15 transcript variant 4	NM_001300764.2:c.354-4220… NM_001300764.2:c.354-4220_354-4215del	N/A	Intron Variant
TSEN15 transcript variant 5	NM_001300766.2:c.354-4220… NM_001300766.2:c.354-4220_354-4215del	N/A	Intron Variant
TSEN15 transcript variant 7	NM_001363643.2:c.353+1307… NM_001363643.2:c.353+13074_353+13079del	N/A	Intron Variant
TSEN15 transcript variant 1	NM_052965.4:c.354-4220_35… NM_052965.4:c.354-4220_354-4215del	N/A	Intron Variant
TSEN15 transcript variant 3	NR_023349.3:n.	N/A	Intron Variant
TSEN15 transcript variant 6	NR_125335.2:n.	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	(A)₁₈=	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₁	dup(A)₁₃	dup(A)₁₆	dup(A)₁₈	ins(A)₂₀	ins(A)₂₁
GRCh38.p14 chr 1	NC_000001.11:g.184067925_184067942=	NC_000001.11:g.184067937_184067942del	NC_000001.11:g.184067938_184067942del	NC_000001.11:g.184067939_184067942del	NC_000001.11:g.184067940_184067942del	NC_000001.11:g.184067941_184067942del	NC_000001.11:g.184067942del	NC_000001.11:g.184067942dup	NC_000001.11:g.184067941_184067942dup	NC_000001.11:g.184067940_184067942dup	NC_000001.11:g.184067939_184067942dup	NC_000001.11:g.184067938_184067942dup	NC_000001.11:g.184067937_184067942dup	NC_000001.11:g.184067936_184067942dup	NC_000001.11:g.184067935_184067942dup	NC_000001.11:g.184067934_184067942dup	NC_000001.11:g.184067933_184067942dup	NC_000001.11:g.184067932_184067942dup	NC_000001.11:g.184067930_184067942dup	NC_000001.11:g.184067927_184067942dup	NC_000001.11:g.184067925_184067942dup	NC_000001.11:g.184067942_184067943insAAAAAAAAAAAAAAAAAAAA	NC_000001.11:g.184067942_184067943insAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1	NC_000001.10:g.184037059_184037076=	NC_000001.10:g.184037071_184037076del	NC_000001.10:g.184037072_184037076del	NC_000001.10:g.184037073_184037076del	NC_000001.10:g.184037074_184037076del	NC_000001.10:g.184037075_184037076del	NC_000001.10:g.184037076del	NC_000001.10:g.184037076dup	NC_000001.10:g.184037075_184037076dup	NC_000001.10:g.184037074_184037076dup	NC_000001.10:g.184037073_184037076dup	NC_000001.10:g.184037072_184037076dup	NC_000001.10:g.184037071_184037076dup	NC_000001.10:g.184037070_184037076dup	NC_000001.10:g.184037069_184037076dup	NC_000001.10:g.184037068_184037076dup	NC_000001.10:g.184037067_184037076dup	NC_000001.10:g.184037066_184037076dup	NC_000001.10:g.184037064_184037076dup	NC_000001.10:g.184037061_184037076dup	NC_000001.10:g.184037059_184037076dup	NC_000001.10:g.184037076_184037077insAAAAAAAAAAAAAAAAAAAA	NC_000001.10:g.184037076_184037077insAAAAAAAAAAAAAAAAAAAAA
TSEN15 RefSeqGene	NG_050569.1:g.21275_21292=	NG_050569.1:g.21287_21292del	NG_050569.1:g.21288_21292del	NG_050569.1:g.21289_21292del	NG_050569.1:g.21290_21292del	NG_050569.1:g.21291_21292del	NG_050569.1:g.21292del	NG_050569.1:g.21292dup	NG_050569.1:g.21291_21292dup	NG_050569.1:g.21290_21292dup	NG_050569.1:g.21289_21292dup	NG_050569.1:g.21288_21292dup	NG_050569.1:g.21287_21292dup	NG_050569.1:g.21286_21292dup	NG_050569.1:g.21285_21292dup	NG_050569.1:g.21284_21292dup	NG_050569.1:g.21283_21292dup	NG_050569.1:g.21282_21292dup	NG_050569.1:g.21280_21292dup	NG_050569.1:g.21277_21292dup	NG_050569.1:g.21275_21292dup	NG_050569.1:g.21292_21293insAAAAAAAAAAAAAAAAAAAA	NG_050569.1:g.21292_21293insAAAAAAAAAAAAAAAAAAAAA
TSEN15 transcript variant 2	NM_001127394.2:c.354-4902=	NM_001127394.2:c.354-4890_354-4885del	NM_001127394.2:c.354-4889_354-4885del	NM_001127394.2:c.354-4888_354-4885del	NM_001127394.2:c.354-4887_354-4885del	NM_001127394.2:c.354-4886_354-4885del	NM_001127394.2:c.354-4885del	NM_001127394.2:c.354-4885dup	NM_001127394.2:c.354-4886_354-4885dup	NM_001127394.2:c.354-4887_354-4885dup	NM_001127394.2:c.354-4888_354-4885dup	NM_001127394.2:c.354-4889_354-4885dup	NM_001127394.2:c.354-4890_354-4885dup	NM_001127394.2:c.354-4891_354-4885dup	NM_001127394.2:c.354-4892_354-4885dup	NM_001127394.2:c.354-4893_354-4885dup	NM_001127394.2:c.354-4894_354-4885dup	NM_001127394.2:c.354-4895_354-4885dup	NM_001127394.2:c.354-4897_354-4885dup	NM_001127394.2:c.354-4900_354-4885dup	NM_001127394.2:c.354-4902_354-4885dup	NM_001127394.2:c.354-4885_354-4884insAAAAAAAAAAAAAAAAAAAA	NM_001127394.2:c.354-4885_354-4884insAAAAAAAAAAAAAAAAAAAAA
TSEN15 transcript variant 2	NM_001127394.4:c.354-4902=	NM_001127394.4:c.354-4890_354-4885del	NM_001127394.4:c.354-4889_354-4885del	NM_001127394.4:c.354-4888_354-4885del	NM_001127394.4:c.354-4887_354-4885del	NM_001127394.4:c.354-4886_354-4885del	NM_001127394.4:c.354-4885del	NM_001127394.4:c.354-4885dup	NM_001127394.4:c.354-4886_354-4885dup	NM_001127394.4:c.354-4887_354-4885dup	NM_001127394.4:c.354-4888_354-4885dup	NM_001127394.4:c.354-4889_354-4885dup	NM_001127394.4:c.354-4890_354-4885dup	NM_001127394.4:c.354-4891_354-4885dup	NM_001127394.4:c.354-4892_354-4885dup	NM_001127394.4:c.354-4893_354-4885dup	NM_001127394.4:c.354-4894_354-4885dup	NM_001127394.4:c.354-4895_354-4885dup	NM_001127394.4:c.354-4897_354-4885dup	NM_001127394.4:c.354-4900_354-4885dup	NM_001127394.4:c.354-4902_354-4885dup	NM_001127394.4:c.354-4885_354-4884insAAAAAAAAAAAAAAAAAAAA	NM_001127394.4:c.354-4885_354-4884insAAAAAAAAAAAAAAAAAAAAA
TSEN15 transcript variant 4	NM_001300764.2:c.354-4232=	NM_001300764.2:c.354-4220_354-4215del	NM_001300764.2:c.354-4219_354-4215del	NM_001300764.2:c.354-4218_354-4215del	NM_001300764.2:c.354-4217_354-4215del	NM_001300764.2:c.354-4216_354-4215del	NM_001300764.2:c.354-4215del	NM_001300764.2:c.354-4215dup	NM_001300764.2:c.354-4216_354-4215dup	NM_001300764.2:c.354-4217_354-4215dup	NM_001300764.2:c.354-4218_354-4215dup	NM_001300764.2:c.354-4219_354-4215dup	NM_001300764.2:c.354-4220_354-4215dup	NM_001300764.2:c.354-4221_354-4215dup	NM_001300764.2:c.354-4222_354-4215dup	NM_001300764.2:c.354-4223_354-4215dup	NM_001300764.2:c.354-4224_354-4215dup	NM_001300764.2:c.354-4225_354-4215dup	NM_001300764.2:c.354-4227_354-4215dup	NM_001300764.2:c.354-4230_354-4215dup	NM_001300764.2:c.354-4232_354-4215dup	NM_001300764.2:c.354-4215_354-4214insAAAAAAAAAAAAAAAAAAAA	NM_001300764.2:c.354-4215_354-4214insAAAAAAAAAAAAAAAAAAAAA
TSEN15 transcript variant 5	NM_001300766.2:c.354-4232=	NM_001300766.2:c.354-4220_354-4215del	NM_001300766.2:c.354-4219_354-4215del	NM_001300766.2:c.354-4218_354-4215del	NM_001300766.2:c.354-4217_354-4215del	NM_001300766.2:c.354-4216_354-4215del	NM_001300766.2:c.354-4215del	NM_001300766.2:c.354-4215dup	NM_001300766.2:c.354-4216_354-4215dup	NM_001300766.2:c.354-4217_354-4215dup	NM_001300766.2:c.354-4218_354-4215dup	NM_001300766.2:c.354-4219_354-4215dup	NM_001300766.2:c.354-4220_354-4215dup	NM_001300766.2:c.354-4221_354-4215dup	NM_001300766.2:c.354-4222_354-4215dup	NM_001300766.2:c.354-4223_354-4215dup	NM_001300766.2:c.354-4224_354-4215dup	NM_001300766.2:c.354-4225_354-4215dup	NM_001300766.2:c.354-4227_354-4215dup	NM_001300766.2:c.354-4230_354-4215dup	NM_001300766.2:c.354-4232_354-4215dup	NM_001300766.2:c.354-4215_354-4214insAAAAAAAAAAAAAAAAAAAA	NM_001300766.2:c.354-4215_354-4214insAAAAAAAAAAAAAAAAAAAAA
TSEN15 transcript variant 7	NM_001363643.2:c.353+13062=	NM_001363643.2:c.353+13074_353+13079del	NM_001363643.2:c.353+13075_353+13079del	NM_001363643.2:c.353+13076_353+13079del	NM_001363643.2:c.353+13077_353+13079del	NM_001363643.2:c.353+13078_353+13079del	NM_001363643.2:c.353+13079del	NM_001363643.2:c.353+13079dup	NM_001363643.2:c.353+13078_353+13079dup	NM_001363643.2:c.353+13077_353+13079dup	NM_001363643.2:c.353+13076_353+13079dup	NM_001363643.2:c.353+13075_353+13079dup	NM_001363643.2:c.353+13074_353+13079dup	NM_001363643.2:c.353+13073_353+13079dup	NM_001363643.2:c.353+13072_353+13079dup	NM_001363643.2:c.353+13071_353+13079dup	NM_001363643.2:c.353+13070_353+13079dup	NM_001363643.2:c.353+13069_353+13079dup	NM_001363643.2:c.353+13067_353+13079dup	NM_001363643.2:c.353+13064_353+13079dup	NM_001363643.2:c.353+13062_353+13079dup	NM_001363643.2:c.353+13079_353+13080insAAAAAAAAAAAAAAAAAAAA	NM_001363643.2:c.353+13079_353+13080insAAAAAAAAAAAAAAAAAAAAA
TSEN15 transcript variant 1	NM_052965.2:c.354-4232=	NM_052965.2:c.354-4220_354-4215del	NM_052965.2:c.354-4219_354-4215del	NM_052965.2:c.354-4218_354-4215del	NM_052965.2:c.354-4217_354-4215del	NM_052965.2:c.354-4216_354-4215del	NM_052965.2:c.354-4215del	NM_052965.2:c.354-4215dup	NM_052965.2:c.354-4216_354-4215dup	NM_052965.2:c.354-4217_354-4215dup	NM_052965.2:c.354-4218_354-4215dup	NM_052965.2:c.354-4219_354-4215dup	NM_052965.2:c.354-4220_354-4215dup	NM_052965.2:c.354-4221_354-4215dup	NM_052965.2:c.354-4222_354-4215dup	NM_052965.2:c.354-4223_354-4215dup	NM_052965.2:c.354-4224_354-4215dup	NM_052965.2:c.354-4225_354-4215dup	NM_052965.2:c.354-4227_354-4215dup	NM_052965.2:c.354-4230_354-4215dup	NM_052965.2:c.354-4232_354-4215dup	NM_052965.2:c.354-4215_354-4214insAAAAAAAAAAAAAAAAAAAA	NM_052965.2:c.354-4215_354-4214insAAAAAAAAAAAAAAAAAAAAA
TSEN15 transcript variant 1	NM_052965.4:c.354-4232=	NM_052965.4:c.354-4220_354-4215del	NM_052965.4:c.354-4219_354-4215del	NM_052965.4:c.354-4218_354-4215del	NM_052965.4:c.354-4217_354-4215del	NM_052965.4:c.354-4216_354-4215del	NM_052965.4:c.354-4215del	NM_052965.4:c.354-4215dup	NM_052965.4:c.354-4216_354-4215dup	NM_052965.4:c.354-4217_354-4215dup	NM_052965.4:c.354-4218_354-4215dup	NM_052965.4:c.354-4219_354-4215dup	NM_052965.4:c.354-4220_354-4215dup	NM_052965.4:c.354-4221_354-4215dup	NM_052965.4:c.354-4222_354-4215dup	NM_052965.4:c.354-4223_354-4215dup	NM_052965.4:c.354-4224_354-4215dup	NM_052965.4:c.354-4225_354-4215dup	NM_052965.4:c.354-4227_354-4215dup	NM_052965.4:c.354-4230_354-4215dup	NM_052965.4:c.354-4232_354-4215dup	NM_052965.4:c.354-4215_354-4214insAAAAAAAAAAAAAAAAAAAA	NM_052965.4:c.354-4215_354-4214insAAAAAAAAAAAAAAAAAAAAA

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#.

54 SubSNP, 37 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95248721	Feb 13, 2009 (130)
2	HUMANGENOME_JCVI	ss98579202	Oct 11, 2018 (152)
3	SWEGEN	ss2988078926	Nov 08, 2017 (151)
4	EVA_DECODE	ss3688179199	Jul 12, 2019 (153)
5	EVA_DECODE	ss3688179200	Jul 12, 2019 (153)
6	EVA_DECODE	ss3688179201	Jul 12, 2019 (153)
7	EVA_DECODE	ss3688179202	Jul 12, 2019 (153)
8	EVA_DECODE	ss3688179203	Jul 12, 2019 (153)
9	EVA_DECODE	ss3688179204	Jul 12, 2019 (153)
10	KOGIC	ss3946052159	Apr 25, 2020 (154)
11	KOGIC	ss3946052160	Apr 25, 2020 (154)
12	KOGIC	ss3946052161	Apr 25, 2020 (154)
13	GNOMAD	ss4007247138	Apr 25, 2021 (155)
14	GNOMAD	ss4007247139	Apr 25, 2021 (155)
15	GNOMAD	ss4007247140	Apr 25, 2021 (155)
16	GNOMAD	ss4007247141	Apr 25, 2021 (155)
17	GNOMAD	ss4007247142	Apr 25, 2021 (155)
18	GNOMAD	ss4007247143	Apr 25, 2021 (155)
19	GNOMAD	ss4007247144	Apr 25, 2021 (155)
20	GNOMAD	ss4007247145	Apr 25, 2021 (155)
21	GNOMAD	ss4007247146	Apr 25, 2021 (155)
22	GNOMAD	ss4007247147	Apr 25, 2021 (155)
23	GNOMAD	ss4007247148	Apr 25, 2021 (155)
24	GNOMAD	ss4007247149	Apr 25, 2021 (155)
25	GNOMAD	ss4007247150	Apr 25, 2021 (155)
26	GNOMAD	ss4007247151	Apr 25, 2021 (155)
27	GNOMAD	ss4007247152	Apr 25, 2021 (155)
28	GNOMAD	ss4007247153	Apr 25, 2021 (155)
29	GNOMAD	ss4007247158	Apr 25, 2021 (155)
30	GNOMAD	ss4007247159	Apr 25, 2021 (155)
31	GNOMAD	ss4007247160	Apr 25, 2021 (155)
32	GNOMAD	ss4007247161	Apr 25, 2021 (155)
33	TOMMO_GENOMICS	ss5147399367	Apr 25, 2021 (155)
34	TOMMO_GENOMICS	ss5147399368	Apr 25, 2021 (155)
35	TOMMO_GENOMICS	ss5147399369	Apr 25, 2021 (155)
36	TOMMO_GENOMICS	ss5147399370	Apr 25, 2021 (155)
37	TOMMO_GENOMICS	ss5147399371	Apr 25, 2021 (155)
38	TOMMO_GENOMICS	ss5147399372	Apr 25, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5244997577	Oct 12, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5244997578	Oct 12, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5244997579	Oct 12, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5244997580	Oct 12, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5244997581	Oct 12, 2022 (156)
44	HUGCELL_USP	ss5445512809	Oct 12, 2022 (156)
45	HUGCELL_USP	ss5445512810	Oct 12, 2022 (156)
46	HUGCELL_USP	ss5445512811	Oct 12, 2022 (156)
47	HUGCELL_USP	ss5445512812	Oct 12, 2022 (156)
48	HUGCELL_USP	ss5445512813	Oct 12, 2022 (156)
49	TOMMO_GENOMICS	ss5674863193	Oct 12, 2022 (156)
50	TOMMO_GENOMICS	ss5674863194	Oct 12, 2022 (156)
51	TOMMO_GENOMICS	ss5674863195	Oct 12, 2022 (156)
52	TOMMO_GENOMICS	ss5674863196	Oct 12, 2022 (156)
53	TOMMO_GENOMICS	ss5674863197	Oct 12, 2022 (156)
54	TOMMO_GENOMICS	ss5674863198	Oct 12, 2022 (156)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32917354 (NC_000001.11:184067924::A 1110/49592) Row 32917355 (NC_000001.11:184067924::AA 978/49584) Row 32917356 (NC_000001.11:184067924::AAA 117/49706)...	-	Apr 25, 2021 (155)
76	Korean Genome Project Submission ignored due to conflicting rows: Row 2430160 (NC_000001.11:184067924::A 117/1760) Row 2430161 (NC_000001.11:184067924::AA 75/1760) Row 2430162 (NC_000001.11:184067924::AAAA 8/1760)	-	Apr 25, 2020 (154)
77	Korean Genome Project Submission ignored due to conflicting rows: Row 2430160 (NC_000001.11:184067924::A 117/1760) Row 2430161 (NC_000001.11:184067924::AA 75/1760) Row 2430162 (NC_000001.11:184067924::AAAA 8/1760)	-	Apr 25, 2020 (154)
78	Korean Genome Project Submission ignored due to conflicting rows: Row 2430160 (NC_000001.11:184067924::A 117/1760) Row 2430161 (NC_000001.11:184067924::AA 75/1760) Row 2430162 (NC_000001.11:184067924::AAAA 8/1760)	-	Apr 25, 2020 (154)
79	8.3KJPN Submission ignored due to conflicting rows: Row 5368674 (NC_000001.10:184037058::A 1266/16490) Row 5368675 (NC_000001.10:184037058::AA 367/16490) Row 5368676 (NC_000001.10:184037058::AAA 47/16490)...	-	Apr 25, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 5368674 (NC_000001.10:184037058::A 1266/16490) Row 5368675 (NC_000001.10:184037058::AA 367/16490) Row 5368676 (NC_000001.10:184037058::AAA 47/16490)...	-	Apr 25, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 5368674 (NC_000001.10:184037058::A 1266/16490) Row 5368675 (NC_000001.10:184037058::AA 367/16490) Row 5368676 (NC_000001.10:184037058::AAA 47/16490)...	-	Apr 25, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 5368674 (NC_000001.10:184037058::A 1266/16490) Row 5368675 (NC_000001.10:184037058::AA 367/16490) Row 5368676 (NC_000001.10:184037058::AAA 47/16490)...	-	Apr 25, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 5368674 (NC_000001.10:184037058::A 1266/16490) Row 5368675 (NC_000001.10:184037058::AA 367/16490) Row 5368676 (NC_000001.10:184037058::AAA 47/16490)...	-	Apr 25, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 5368674 (NC_000001.10:184037058::A 1266/16490) Row 5368675 (NC_000001.10:184037058::AA 367/16490) Row 5368676 (NC_000001.10:184037058::AAA 47/16490)...	-	Apr 25, 2021 (155)
85	14KJPN Submission ignored due to conflicting rows: Row 8700297 (NC_000001.11:184067924:A: 34/28208) Row 8700298 (NC_000001.11:184067924:AA: 30/28208) Row 8700299 (NC_000001.11:184067924::AA 664/28208)...	-	Oct 12, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 8700297 (NC_000001.11:184067924:A: 34/28208) Row 8700298 (NC_000001.11:184067924:AA: 30/28208) Row 8700299 (NC_000001.11:184067924::AA 664/28208)...	-	Oct 12, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 8700297 (NC_000001.11:184067924:A: 34/28208) Row 8700298 (NC_000001.11:184067924:AA: 30/28208) Row 8700299 (NC_000001.11:184067924::AA 664/28208)...	-	Oct 12, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 8700297 (NC_000001.11:184067924:A: 34/28208) Row 8700298 (NC_000001.11:184067924:AA: 30/28208) Row 8700299 (NC_000001.11:184067924::AA 664/28208)...	-	Oct 12, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 8700297 (NC_000001.11:184067924:A: 34/28208) Row 8700298 (NC_000001.11:184067924:AA: 30/28208) Row 8700299 (NC_000001.11:184067924::AA 664/28208)...	-	Oct 12, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 8700297 (NC_000001.11:184067924:A: 34/28208) Row 8700298 (NC_000001.11:184067924:AA: 30/28208) Row 8700299 (NC_000001.11:184067924::AA 664/28208)...	-	Oct 12, 2022 (156)
91	ALFA	NC_000001.11 - 184067925	Apr 25, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4007247161	NC_000001.11:184067924:AAAAAA:	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4007247160	NC_000001.11:184067924:AAAA:	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4007247159, ss5244997578, ss5445512813	NC_000001.11:184067924:AAA:	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss2988078926, ss5147399371	NC_000001.10:184037058:AA:	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4007247158, ss5445512812, ss5674863194	NC_000001.11:184067924:AA:	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5147399370	NC_000001.10:184037058:A:	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3688179204, ss5674863193	NC_000001.11:184067924:A:	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss95248721	NT_004487.19:35525717:A:	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss98579202	NT_004487.19:35525717:AT:T	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5147399367	NC_000001.10:184037058::A	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3946052159, ss4007247138, ss5244997579, ss5445512809, ss5674863196	NC_000001.11:184067924::A	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3688179203	NC_000001.11:184067925::A	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5147399368	NC_000001.10:184037058::AA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3946052160, ss4007247139, ss5244997577, ss5445512811, ss5674863195	NC_000001.11:184067924::AA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3688179202	NC_000001.11:184067925::AA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5147399369	NC_000001.10:184037058::AAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247140, ss5244997580, ss5445512810, ss5674863197	NC_000001.11:184067924::AAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3688179201	NC_000001.11:184067925::AAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5147399372	NC_000001.10:184037058::AAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3946052161, ss4007247141, ss5674863198	NC_000001.11:184067924::AAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3688179200	NC_000001.11:184067925::AAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247142, ss5244997581	NC_000001.11:184067924::AAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3688179199	NC_000001.11:184067925::AAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247143	NC_000001.11:184067924::AAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247144	NC_000001.11:184067924::AAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247145	NC_000001.11:184067924::AAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247146	NC_000001.11:184067924::AAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247147	NC_000001.11:184067924::AAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5042831867	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247148	NC_000001.11:184067924::AAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247149	NC_000001.11:184067924::AAAAAAAAAA… NC_000001.11:184067924::AAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247150	NC_000001.11:184067924::AAAAAAAAAA… NC_000001.11:184067924::AAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247151	NC_000001.11:184067924::AAAAAAAAAA… NC_000001.11:184067924::AAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247152	NC_000001.11:184067924::AAAAAAAAAA… NC_000001.11:184067924::AAAAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4007247153	NC_000001.11:184067924::AAAAAAAAAA… NC_000001.11:184067924::AAAAAAAAAAAAAAAAAAAAA	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3097425028	NC_000001.11:184067924:AAAAA:	NC_000001.11:184067924:AAAAAAAAAAA… NC_000001.11:184067924:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

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

No publications for rs71130650

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

rs71130650