Name: rs71148422
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.

rs71148422

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:1058137-1058156 (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)₅ / del(…
del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₂ / ins(T)₂₆
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.4383 (2195/5008, 1000G)
(T)₂₀=0.3088 (1439/4660, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ABR : 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	4660	TTTTTTTTTTTTTTTTTTTT=0.3088	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.1223, TTTTTTTTTTTTTTTTTTTTTT=0.4309, TTTTTTTTTTTTTTTTTTTTTTT=0.0893, TTTTTTTTTTTTTTTTTTTTTTTT=0.0474, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0013	0.434753	0.489011	0.076236	32
European	Sub	4558	TTTTTTTTTTTTTTTTTTTT=0.2946	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.1248, TTTTTTTTTTTTTTTTTTTTTT=0.4397, TTTTTTTTTTTTTTTTTTTTTTT=0.0910, TTTTTTTTTTTTTTTTTTTTTTTT=0.0485, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0013	0.415778	0.50533	0.078891	32
African	Sub	80	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African Others	Sub	6	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	74	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	4	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	6	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other	Sub	12	TTTTTTTTTTTTTTTTTTTT=0.50	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.08, TTTTTTTTTTTTTTTTTTTTTT=0.33, TTTTTTTTTTTTTTTTTTTTTTT=0.08, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	0.75	0.25	0.0	3

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
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.4383
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.4130
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.4861
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.4235
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.463
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.403
Allele Frequency Aggregator	Total	Global	4660	(T)₂₀=0.3088	del(T)₇=0.0000, 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=0.1223, dupTT=0.4309, dupTTT=0.0893, dup(T)₄=0.0474, dup(T)₅=0.0013
Allele Frequency Aggregator	European	Sub	4558	(T)₂₀=0.2946	del(T)₇=0.0000, 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=0.1248, dupTT=0.4397, dupTTT=0.0910, dup(T)₄=0.0485, dup(T)₅=0.0013
Allele Frequency Aggregator	African	Sub	80	(T)₂₀=1.00	del(T)₇=0.00, 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, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Other	Sub	12	(T)₂₀=0.50	del(T)₇=0.00, 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=0.08, dupTT=0.33, dupTTT=0.08, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Latin American 2	Sub	6	(T)₂₀=1.0	del(T)₇=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0
Allele Frequency Aggregator	Latin American 1	Sub	4	(T)₂₀=1.0	del(T)₇=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(T)₂₀=0	del(T)₇=0, del(T)₆=0, del(T)₅=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₄=0, dup(T)₅=0
Allele Frequency Aggregator	Asian	Sub	0	(T)₂₀=0	del(T)₇=0, del(T)₆=0, del(T)₅=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₄=0, dup(T)₅=0

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 17	NC_000017.11:g.1058150_1058156del
GRCh38.p14 chr 17	NC_000017.11:g.1058151_1058156del
GRCh38.p14 chr 17	NC_000017.11:g.1058152_1058156del
GRCh38.p14 chr 17	NC_000017.11:g.1058153_1058156del
GRCh38.p14 chr 17	NC_000017.11:g.1058154_1058156del
GRCh38.p14 chr 17	NC_000017.11:g.1058155_1058156del
GRCh38.p14 chr 17	NC_000017.11:g.1058156del
GRCh38.p14 chr 17	NC_000017.11:g.1058156dup
GRCh38.p14 chr 17	NC_000017.11:g.1058155_1058156dup
GRCh38.p14 chr 17	NC_000017.11:g.1058154_1058156dup
GRCh38.p14 chr 17	NC_000017.11:g.1058153_1058156dup
GRCh38.p14 chr 17	NC_000017.11:g.1058152_1058156dup
GRCh38.p14 chr 17	NC_000017.11:g.1058151_1058156dup
GRCh38.p14 chr 17	NC_000017.11:g.1058150_1058156dup
GRCh38.p14 chr 17	NC_000017.11:g.1058149_1058156dup
GRCh38.p14 chr 17	NC_000017.11:g.1058148_1058156dup
GRCh38.p14 chr 17	NC_000017.11:g.1058147_1058156dup
GRCh38.p14 chr 17	NC_000017.11:g.1058146_1058156dup
GRCh38.p14 chr 17	NC_000017.11:g.1058145_1058156dup
GRCh38.p14 chr 17	NC_000017.11:g.1058156_1058157insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 17	NC_000017.10:g.961390_961396del
GRCh37.p13 chr 17	NC_000017.10:g.961391_961396del
GRCh37.p13 chr 17	NC_000017.10:g.961392_961396del
GRCh37.p13 chr 17	NC_000017.10:g.961393_961396del
GRCh37.p13 chr 17	NC_000017.10:g.961394_961396del
GRCh37.p13 chr 17	NC_000017.10:g.961395_961396del
GRCh37.p13 chr 17	NC_000017.10:g.961396del
GRCh37.p13 chr 17	NC_000017.10:g.961396dup
GRCh37.p13 chr 17	NC_000017.10:g.961395_961396dup
GRCh37.p13 chr 17	NC_000017.10:g.961394_961396dup
GRCh37.p13 chr 17	NC_000017.10:g.961393_961396dup
GRCh37.p13 chr 17	NC_000017.10:g.961392_961396dup
GRCh37.p13 chr 17	NC_000017.10:g.961391_961396dup
GRCh37.p13 chr 17	NC_000017.10:g.961390_961396dup
GRCh37.p13 chr 17	NC_000017.10:g.961389_961396dup
GRCh37.p13 chr 17	NC_000017.10:g.961388_961396dup
GRCh37.p13 chr 17	NC_000017.10:g.961387_961396dup
GRCh37.p13 chr 17	NC_000017.10:g.961386_961396dup
GRCh37.p13 chr 17	NC_000017.10:g.961385_961396dup
GRCh37.p13 chr 17	NC_000017.10:g.961396_961397insTTTTTTTTTTTTTTTTTTTTTTTTTT
ABR RefSeqGene	NG_011987.2:g.176538_176544del
ABR RefSeqGene	NG_011987.2:g.176539_176544del
ABR RefSeqGene	NG_011987.2:g.176540_176544del
ABR RefSeqGene	NG_011987.2:g.176541_176544del
ABR RefSeqGene	NG_011987.2:g.176542_176544del
ABR RefSeqGene	NG_011987.2:g.176543_176544del
ABR RefSeqGene	NG_011987.2:g.176544del
ABR RefSeqGene	NG_011987.2:g.176544dup
ABR RefSeqGene	NG_011987.2:g.176543_176544dup
ABR RefSeqGene	NG_011987.2:g.176542_176544dup
ABR RefSeqGene	NG_011987.2:g.176541_176544dup
ABR RefSeqGene	NG_011987.2:g.176540_176544dup
ABR RefSeqGene	NG_011987.2:g.176539_176544dup
ABR RefSeqGene	NG_011987.2:g.176538_176544dup
ABR RefSeqGene	NG_011987.2:g.176537_176544dup
ABR RefSeqGene	NG_011987.2:g.176536_176544dup
ABR RefSeqGene	NG_011987.2:g.176535_176544dup
ABR RefSeqGene	NG_011987.2:g.176534_176544dup
ABR RefSeqGene	NG_011987.2:g.176533_176544dup
ABR RefSeqGene	NG_011987.2:g.176544_176545insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96653_96659del
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96654_96659del
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96655_96659del
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96656_96659del
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96657_96659del
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96658_96659del
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96659del
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96659dup
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96658_96659dup
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96657_96659dup
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96656_96659dup
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96655_96659dup
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96654_96659dup
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96653_96659dup
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96652_96659dup
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96651_96659dup
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96650_96659dup
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96649_96659dup
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96648_96659dup
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96659_96660insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96503_96509del
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96504_96509del
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96505_96509del
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96506_96509del
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96507_96509del
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96508_96509del
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96509del
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96509dup
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96508_96509dup
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96507_96509dup
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96506_96509dup
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96505_96509dup
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96504_96509dup
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96503_96509dup
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96502_96509dup
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96501_96509dup
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96500_96509dup
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96499_96509dup
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96498_96509dup
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96509_96510insTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: ABR, ABR activator of RhoGEF and GTPase (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABR transcript variant 2	NM_001092.5:c.1195-98_119… NM_001092.5:c.1195-98_1195-92del	N/A	Intron Variant
ABR transcript variant 3	NM_001159746.3:c.1168-98_… NM_001159746.3:c.1168-98_1168-92del	N/A	Intron Variant
ABR transcript variant 5	NM_001282149.2:c.652-98_6… NM_001282149.2:c.652-98_652-92del	N/A	Intron Variant
ABR transcript variant 6	NM_001322840.2:c.1168-98_… NM_001322840.2:c.1168-98_1168-92del	N/A	Intron Variant
ABR transcript variant 7	NM_001322841.2:c.2083-98_… NM_001322841.2:c.2083-98_2083-92del	N/A	Intron Variant
ABR transcript variant 1	NM_021962.5:c.1306-98_130… NM_021962.5:c.1306-98_1306-92del	N/A	Intron Variant
ABR transcript variant 4	NM_001256847.3:c.	N/A	Genic Upstream Transcript Variant
ABR transcript variant 8	NM_001322842.2:c.	N/A	Genic Downstream Transcript Variant
ABR transcript variant X7	XM_011523810.4:c.1306-98_… XM_011523810.4:c.1306-98_1306-92del	N/A	Intron Variant
ABR transcript variant X9	XM_011523811.4:c.2083-98_… XM_011523811.4:c.2083-98_2083-92del	N/A	Intron Variant
ABR transcript variant X10	XM_011523812.4:c.1267-98_… XM_011523812.4:c.1267-98_1267-92del	N/A	Intron Variant
ABR transcript variant X11	XM_011523813.4:c.1195-98_… XM_011523813.4:c.1195-98_1195-92del	N/A	Intron Variant
ABR transcript variant X12	XM_011523814.4:c.1168-98_… XM_011523814.4:c.1168-98_1168-92del	N/A	Intron Variant
ABR transcript variant X13	XM_011523815.4:c.1168-98_… XM_011523815.4:c.1168-98_1168-92del	N/A	Intron Variant
ABR transcript variant X1	XM_017024539.2:c.2083-98_… XM_017024539.2:c.2083-98_2083-92del	N/A	Intron Variant
ABR transcript variant X2	XM_017024540.3:c.1984-98_… XM_017024540.3:c.1984-98_1984-92del	N/A	Intron Variant
ABR transcript variant X16	XM_017024542.3:c.661-98_6… XM_017024542.3:c.661-98_661-92del	N/A	Intron Variant
ABR transcript variant X17	XM_017024543.3:c.652-98_6… XM_017024543.3:c.652-98_652-92del	N/A	Intron Variant
ABR transcript variant X3	XM_047435860.1:c.1984-98_… XM_047435860.1:c.1984-98_1984-92del	N/A	Intron Variant
ABR transcript variant X4	XM_047435861.1:c.2083-98_… XM_047435861.1:c.2083-98_2083-92del	N/A	Intron Variant
ABR transcript variant X5	XM_047435862.1:c.2083-98_… XM_047435862.1:c.2083-98_2083-92del	N/A	Intron Variant
ABR transcript variant X8	XM_047435863.1:c.1303-98_… XM_047435863.1:c.1303-98_1303-92del	N/A	Intron Variant
ABR transcript variant X14	XM_047435864.1:c.1168-98_… XM_047435864.1:c.1168-98_1168-92del	N/A	Intron Variant
ABR transcript variant X15	XM_047435865.1:c.1036-98_… XM_047435865.1:c.1036-98_1036-92del	N/A	Intron Variant
ABR transcript variant X6	XR_007065294.1: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	(T)₂₀=	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₁	dup(T)₁₂	ins(T)₂₆
GRCh38.p14 chr 17	NC_000017.11:g.1058137_1058156=	NC_000017.11:g.1058150_1058156del	NC_000017.11:g.1058151_1058156del	NC_000017.11:g.1058152_1058156del	NC_000017.11:g.1058153_1058156del	NC_000017.11:g.1058154_1058156del	NC_000017.11:g.1058155_1058156del	NC_000017.11:g.1058156del	NC_000017.11:g.1058156dup	NC_000017.11:g.1058155_1058156dup	NC_000017.11:g.1058154_1058156dup	NC_000017.11:g.1058153_1058156dup	NC_000017.11:g.1058152_1058156dup	NC_000017.11:g.1058151_1058156dup	NC_000017.11:g.1058150_1058156dup	NC_000017.11:g.1058149_1058156dup	NC_000017.11:g.1058148_1058156dup	NC_000017.11:g.1058147_1058156dup	NC_000017.11:g.1058146_1058156dup	NC_000017.11:g.1058145_1058156dup	NC_000017.11:g.1058156_1058157insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 17	NC_000017.10:g.961377_961396=	NC_000017.10:g.961390_961396del	NC_000017.10:g.961391_961396del	NC_000017.10:g.961392_961396del	NC_000017.10:g.961393_961396del	NC_000017.10:g.961394_961396del	NC_000017.10:g.961395_961396del	NC_000017.10:g.961396del	NC_000017.10:g.961396dup	NC_000017.10:g.961395_961396dup	NC_000017.10:g.961394_961396dup	NC_000017.10:g.961393_961396dup	NC_000017.10:g.961392_961396dup	NC_000017.10:g.961391_961396dup	NC_000017.10:g.961390_961396dup	NC_000017.10:g.961389_961396dup	NC_000017.10:g.961388_961396dup	NC_000017.10:g.961387_961396dup	NC_000017.10:g.961386_961396dup	NC_000017.10:g.961385_961396dup	NC_000017.10:g.961396_961397insTTTTTTTTTTTTTTTTTTTTTTTTTT
ABR RefSeqGene	NG_011987.2:g.176525_176544=	NG_011987.2:g.176538_176544del	NG_011987.2:g.176539_176544del	NG_011987.2:g.176540_176544del	NG_011987.2:g.176541_176544del	NG_011987.2:g.176542_176544del	NG_011987.2:g.176543_176544del	NG_011987.2:g.176544del	NG_011987.2:g.176544dup	NG_011987.2:g.176543_176544dup	NG_011987.2:g.176542_176544dup	NG_011987.2:g.176541_176544dup	NG_011987.2:g.176540_176544dup	NG_011987.2:g.176539_176544dup	NG_011987.2:g.176538_176544dup	NG_011987.2:g.176537_176544dup	NG_011987.2:g.176536_176544dup	NG_011987.2:g.176535_176544dup	NG_011987.2:g.176534_176544dup	NG_011987.2:g.176533_176544dup	NG_011987.2:g.176544_176545insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG2	NT_187613.1:g.96638_96659=	NT_187613.1:g.96653_96659del	NT_187613.1:g.96654_96659del	NT_187613.1:g.96655_96659del	NT_187613.1:g.96656_96659del	NT_187613.1:g.96657_96659del	NT_187613.1:g.96658_96659del	NT_187613.1:g.96659del	NT_187613.1:g.96659dup	NT_187613.1:g.96658_96659dup	NT_187613.1:g.96657_96659dup	NT_187613.1:g.96656_96659dup	NT_187613.1:g.96655_96659dup	NT_187613.1:g.96654_96659dup	NT_187613.1:g.96653_96659dup	NT_187613.1:g.96652_96659dup	NT_187613.1:g.96651_96659dup	NT_187613.1:g.96650_96659dup	NT_187613.1:g.96649_96659dup	NT_187613.1:g.96648_96659dup	NT_187613.1:g.96659_96660insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 17 alt locus HSCHR17_3_CTG2	NT_187664.1:g.96488_96509=	NT_187664.1:g.96503_96509del	NT_187664.1:g.96504_96509del	NT_187664.1:g.96505_96509del	NT_187664.1:g.96506_96509del	NT_187664.1:g.96507_96509del	NT_187664.1:g.96508_96509del	NT_187664.1:g.96509del	NT_187664.1:g.96509dup	NT_187664.1:g.96508_96509dup	NT_187664.1:g.96507_96509dup	NT_187664.1:g.96506_96509dup	NT_187664.1:g.96505_96509dup	NT_187664.1:g.96504_96509dup	NT_187664.1:g.96503_96509dup	NT_187664.1:g.96502_96509dup	NT_187664.1:g.96501_96509dup	NT_187664.1:g.96500_96509dup	NT_187664.1:g.96499_96509dup	NT_187664.1:g.96498_96509dup	NT_187664.1:g.96509_96510insTTTTTTTTTTTTTTTTTTTTTTTTTT
ABR transcript variant 2	NM_001092.4:c.1195-92=	NM_001092.4:c.1195-98_1195-92del	NM_001092.4:c.1195-97_1195-92del	NM_001092.4:c.1195-96_1195-92del	NM_001092.4:c.1195-95_1195-92del	NM_001092.4:c.1195-94_1195-92del	NM_001092.4:c.1195-93_1195-92del	NM_001092.4:c.1195-92del	NM_001092.4:c.1195-92dup	NM_001092.4:c.1195-93_1195-92dup	NM_001092.4:c.1195-94_1195-92dup	NM_001092.4:c.1195-95_1195-92dup	NM_001092.4:c.1195-96_1195-92dup	NM_001092.4:c.1195-97_1195-92dup	NM_001092.4:c.1195-98_1195-92dup	NM_001092.4:c.1195-99_1195-92dup	NM_001092.4:c.1195-100_1195-92dup	NM_001092.4:c.1195-101_1195-92dup	NM_001092.4:c.1195-102_1195-92dup	NM_001092.4:c.1195-103_1195-92dup	NM_001092.4:c.1195-92_1195-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant 2	NM_001092.5:c.1195-92=	NM_001092.5:c.1195-98_1195-92del	NM_001092.5:c.1195-97_1195-92del	NM_001092.5:c.1195-96_1195-92del	NM_001092.5:c.1195-95_1195-92del	NM_001092.5:c.1195-94_1195-92del	NM_001092.5:c.1195-93_1195-92del	NM_001092.5:c.1195-92del	NM_001092.5:c.1195-92dup	NM_001092.5:c.1195-93_1195-92dup	NM_001092.5:c.1195-94_1195-92dup	NM_001092.5:c.1195-95_1195-92dup	NM_001092.5:c.1195-96_1195-92dup	NM_001092.5:c.1195-97_1195-92dup	NM_001092.5:c.1195-98_1195-92dup	NM_001092.5:c.1195-99_1195-92dup	NM_001092.5:c.1195-100_1195-92dup	NM_001092.5:c.1195-101_1195-92dup	NM_001092.5:c.1195-102_1195-92dup	NM_001092.5:c.1195-103_1195-92dup	NM_001092.5:c.1195-92_1195-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant 3	NM_001159746.2:c.1168-92=	NM_001159746.2:c.1168-98_1168-92del	NM_001159746.2:c.1168-97_1168-92del	NM_001159746.2:c.1168-96_1168-92del	NM_001159746.2:c.1168-95_1168-92del	NM_001159746.2:c.1168-94_1168-92del	NM_001159746.2:c.1168-93_1168-92del	NM_001159746.2:c.1168-92del	NM_001159746.2:c.1168-92dup	NM_001159746.2:c.1168-93_1168-92dup	NM_001159746.2:c.1168-94_1168-92dup	NM_001159746.2:c.1168-95_1168-92dup	NM_001159746.2:c.1168-96_1168-92dup	NM_001159746.2:c.1168-97_1168-92dup	NM_001159746.2:c.1168-98_1168-92dup	NM_001159746.2:c.1168-99_1168-92dup	NM_001159746.2:c.1168-100_1168-92dup	NM_001159746.2:c.1168-101_1168-92dup	NM_001159746.2:c.1168-102_1168-92dup	NM_001159746.2:c.1168-103_1168-92dup	NM_001159746.2:c.1168-92_1168-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant 3	NM_001159746.3:c.1168-92=	NM_001159746.3:c.1168-98_1168-92del	NM_001159746.3:c.1168-97_1168-92del	NM_001159746.3:c.1168-96_1168-92del	NM_001159746.3:c.1168-95_1168-92del	NM_001159746.3:c.1168-94_1168-92del	NM_001159746.3:c.1168-93_1168-92del	NM_001159746.3:c.1168-92del	NM_001159746.3:c.1168-92dup	NM_001159746.3:c.1168-93_1168-92dup	NM_001159746.3:c.1168-94_1168-92dup	NM_001159746.3:c.1168-95_1168-92dup	NM_001159746.3:c.1168-96_1168-92dup	NM_001159746.3:c.1168-97_1168-92dup	NM_001159746.3:c.1168-98_1168-92dup	NM_001159746.3:c.1168-99_1168-92dup	NM_001159746.3:c.1168-100_1168-92dup	NM_001159746.3:c.1168-101_1168-92dup	NM_001159746.3:c.1168-102_1168-92dup	NM_001159746.3:c.1168-103_1168-92dup	NM_001159746.3:c.1168-92_1168-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant 5	NM_001282149.2:c.652-92=	NM_001282149.2:c.652-98_652-92del	NM_001282149.2:c.652-97_652-92del	NM_001282149.2:c.652-96_652-92del	NM_001282149.2:c.652-95_652-92del	NM_001282149.2:c.652-94_652-92del	NM_001282149.2:c.652-93_652-92del	NM_001282149.2:c.652-92del	NM_001282149.2:c.652-92dup	NM_001282149.2:c.652-93_652-92dup	NM_001282149.2:c.652-94_652-92dup	NM_001282149.2:c.652-95_652-92dup	NM_001282149.2:c.652-96_652-92dup	NM_001282149.2:c.652-97_652-92dup	NM_001282149.2:c.652-98_652-92dup	NM_001282149.2:c.652-99_652-92dup	NM_001282149.2:c.652-100_652-92dup	NM_001282149.2:c.652-101_652-92dup	NM_001282149.2:c.652-102_652-92dup	NM_001282149.2:c.652-103_652-92dup	NM_001282149.2:c.652-92_652-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant 6	NM_001322840.2:c.1168-92=	NM_001322840.2:c.1168-98_1168-92del	NM_001322840.2:c.1168-97_1168-92del	NM_001322840.2:c.1168-96_1168-92del	NM_001322840.2:c.1168-95_1168-92del	NM_001322840.2:c.1168-94_1168-92del	NM_001322840.2:c.1168-93_1168-92del	NM_001322840.2:c.1168-92del	NM_001322840.2:c.1168-92dup	NM_001322840.2:c.1168-93_1168-92dup	NM_001322840.2:c.1168-94_1168-92dup	NM_001322840.2:c.1168-95_1168-92dup	NM_001322840.2:c.1168-96_1168-92dup	NM_001322840.2:c.1168-97_1168-92dup	NM_001322840.2:c.1168-98_1168-92dup	NM_001322840.2:c.1168-99_1168-92dup	NM_001322840.2:c.1168-100_1168-92dup	NM_001322840.2:c.1168-101_1168-92dup	NM_001322840.2:c.1168-102_1168-92dup	NM_001322840.2:c.1168-103_1168-92dup	NM_001322840.2:c.1168-92_1168-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant 7	NM_001322841.2:c.2083-92=	NM_001322841.2:c.2083-98_2083-92del	NM_001322841.2:c.2083-97_2083-92del	NM_001322841.2:c.2083-96_2083-92del	NM_001322841.2:c.2083-95_2083-92del	NM_001322841.2:c.2083-94_2083-92del	NM_001322841.2:c.2083-93_2083-92del	NM_001322841.2:c.2083-92del	NM_001322841.2:c.2083-92dup	NM_001322841.2:c.2083-93_2083-92dup	NM_001322841.2:c.2083-94_2083-92dup	NM_001322841.2:c.2083-95_2083-92dup	NM_001322841.2:c.2083-96_2083-92dup	NM_001322841.2:c.2083-97_2083-92dup	NM_001322841.2:c.2083-98_2083-92dup	NM_001322841.2:c.2083-99_2083-92dup	NM_001322841.2:c.2083-100_2083-92dup	NM_001322841.2:c.2083-101_2083-92dup	NM_001322841.2:c.2083-102_2083-92dup	NM_001322841.2:c.2083-103_2083-92dup	NM_001322841.2:c.2083-92_2083-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant 1	NM_021962.3:c.1306-92=	NM_021962.3:c.1306-98_1306-92del	NM_021962.3:c.1306-97_1306-92del	NM_021962.3:c.1306-96_1306-92del	NM_021962.3:c.1306-95_1306-92del	NM_021962.3:c.1306-94_1306-92del	NM_021962.3:c.1306-93_1306-92del	NM_021962.3:c.1306-92del	NM_021962.3:c.1306-92dup	NM_021962.3:c.1306-93_1306-92dup	NM_021962.3:c.1306-94_1306-92dup	NM_021962.3:c.1306-95_1306-92dup	NM_021962.3:c.1306-96_1306-92dup	NM_021962.3:c.1306-97_1306-92dup	NM_021962.3:c.1306-98_1306-92dup	NM_021962.3:c.1306-99_1306-92dup	NM_021962.3:c.1306-100_1306-92dup	NM_021962.3:c.1306-101_1306-92dup	NM_021962.3:c.1306-102_1306-92dup	NM_021962.3:c.1306-103_1306-92dup	NM_021962.3:c.1306-92_1306-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant 1	NM_021962.5:c.1306-92=	NM_021962.5:c.1306-98_1306-92del	NM_021962.5:c.1306-97_1306-92del	NM_021962.5:c.1306-96_1306-92del	NM_021962.5:c.1306-95_1306-92del	NM_021962.5:c.1306-94_1306-92del	NM_021962.5:c.1306-93_1306-92del	NM_021962.5:c.1306-92del	NM_021962.5:c.1306-92dup	NM_021962.5:c.1306-93_1306-92dup	NM_021962.5:c.1306-94_1306-92dup	NM_021962.5:c.1306-95_1306-92dup	NM_021962.5:c.1306-96_1306-92dup	NM_021962.5:c.1306-97_1306-92dup	NM_021962.5:c.1306-98_1306-92dup	NM_021962.5:c.1306-99_1306-92dup	NM_021962.5:c.1306-100_1306-92dup	NM_021962.5:c.1306-101_1306-92dup	NM_021962.5:c.1306-102_1306-92dup	NM_021962.5:c.1306-103_1306-92dup	NM_021962.5:c.1306-92_1306-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X7	XM_011523810.4:c.1306-92=	XM_011523810.4:c.1306-98_1306-92del	XM_011523810.4:c.1306-97_1306-92del	XM_011523810.4:c.1306-96_1306-92del	XM_011523810.4:c.1306-95_1306-92del	XM_011523810.4:c.1306-94_1306-92del	XM_011523810.4:c.1306-93_1306-92del	XM_011523810.4:c.1306-92del	XM_011523810.4:c.1306-92dup	XM_011523810.4:c.1306-93_1306-92dup	XM_011523810.4:c.1306-94_1306-92dup	XM_011523810.4:c.1306-95_1306-92dup	XM_011523810.4:c.1306-96_1306-92dup	XM_011523810.4:c.1306-97_1306-92dup	XM_011523810.4:c.1306-98_1306-92dup	XM_011523810.4:c.1306-99_1306-92dup	XM_011523810.4:c.1306-100_1306-92dup	XM_011523810.4:c.1306-101_1306-92dup	XM_011523810.4:c.1306-102_1306-92dup	XM_011523810.4:c.1306-103_1306-92dup	XM_011523810.4:c.1306-92_1306-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X9	XM_011523811.4:c.2083-92=	XM_011523811.4:c.2083-98_2083-92del	XM_011523811.4:c.2083-97_2083-92del	XM_011523811.4:c.2083-96_2083-92del	XM_011523811.4:c.2083-95_2083-92del	XM_011523811.4:c.2083-94_2083-92del	XM_011523811.4:c.2083-93_2083-92del	XM_011523811.4:c.2083-92del	XM_011523811.4:c.2083-92dup	XM_011523811.4:c.2083-93_2083-92dup	XM_011523811.4:c.2083-94_2083-92dup	XM_011523811.4:c.2083-95_2083-92dup	XM_011523811.4:c.2083-96_2083-92dup	XM_011523811.4:c.2083-97_2083-92dup	XM_011523811.4:c.2083-98_2083-92dup	XM_011523811.4:c.2083-99_2083-92dup	XM_011523811.4:c.2083-100_2083-92dup	XM_011523811.4:c.2083-101_2083-92dup	XM_011523811.4:c.2083-102_2083-92dup	XM_011523811.4:c.2083-103_2083-92dup	XM_011523811.4:c.2083-92_2083-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X10	XM_011523812.4:c.1267-92=	XM_011523812.4:c.1267-98_1267-92del	XM_011523812.4:c.1267-97_1267-92del	XM_011523812.4:c.1267-96_1267-92del	XM_011523812.4:c.1267-95_1267-92del	XM_011523812.4:c.1267-94_1267-92del	XM_011523812.4:c.1267-93_1267-92del	XM_011523812.4:c.1267-92del	XM_011523812.4:c.1267-92dup	XM_011523812.4:c.1267-93_1267-92dup	XM_011523812.4:c.1267-94_1267-92dup	XM_011523812.4:c.1267-95_1267-92dup	XM_011523812.4:c.1267-96_1267-92dup	XM_011523812.4:c.1267-97_1267-92dup	XM_011523812.4:c.1267-98_1267-92dup	XM_011523812.4:c.1267-99_1267-92dup	XM_011523812.4:c.1267-100_1267-92dup	XM_011523812.4:c.1267-101_1267-92dup	XM_011523812.4:c.1267-102_1267-92dup	XM_011523812.4:c.1267-103_1267-92dup	XM_011523812.4:c.1267-92_1267-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X11	XM_011523813.4:c.1195-92=	XM_011523813.4:c.1195-98_1195-92del	XM_011523813.4:c.1195-97_1195-92del	XM_011523813.4:c.1195-96_1195-92del	XM_011523813.4:c.1195-95_1195-92del	XM_011523813.4:c.1195-94_1195-92del	XM_011523813.4:c.1195-93_1195-92del	XM_011523813.4:c.1195-92del	XM_011523813.4:c.1195-92dup	XM_011523813.4:c.1195-93_1195-92dup	XM_011523813.4:c.1195-94_1195-92dup	XM_011523813.4:c.1195-95_1195-92dup	XM_011523813.4:c.1195-96_1195-92dup	XM_011523813.4:c.1195-97_1195-92dup	XM_011523813.4:c.1195-98_1195-92dup	XM_011523813.4:c.1195-99_1195-92dup	XM_011523813.4:c.1195-100_1195-92dup	XM_011523813.4:c.1195-101_1195-92dup	XM_011523813.4:c.1195-102_1195-92dup	XM_011523813.4:c.1195-103_1195-92dup	XM_011523813.4:c.1195-92_1195-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X12	XM_011523814.4:c.1168-92=	XM_011523814.4:c.1168-98_1168-92del	XM_011523814.4:c.1168-97_1168-92del	XM_011523814.4:c.1168-96_1168-92del	XM_011523814.4:c.1168-95_1168-92del	XM_011523814.4:c.1168-94_1168-92del	XM_011523814.4:c.1168-93_1168-92del	XM_011523814.4:c.1168-92del	XM_011523814.4:c.1168-92dup	XM_011523814.4:c.1168-93_1168-92dup	XM_011523814.4:c.1168-94_1168-92dup	XM_011523814.4:c.1168-95_1168-92dup	XM_011523814.4:c.1168-96_1168-92dup	XM_011523814.4:c.1168-97_1168-92dup	XM_011523814.4:c.1168-98_1168-92dup	XM_011523814.4:c.1168-99_1168-92dup	XM_011523814.4:c.1168-100_1168-92dup	XM_011523814.4:c.1168-101_1168-92dup	XM_011523814.4:c.1168-102_1168-92dup	XM_011523814.4:c.1168-103_1168-92dup	XM_011523814.4:c.1168-92_1168-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X13	XM_011523815.4:c.1168-92=	XM_011523815.4:c.1168-98_1168-92del	XM_011523815.4:c.1168-97_1168-92del	XM_011523815.4:c.1168-96_1168-92del	XM_011523815.4:c.1168-95_1168-92del	XM_011523815.4:c.1168-94_1168-92del	XM_011523815.4:c.1168-93_1168-92del	XM_011523815.4:c.1168-92del	XM_011523815.4:c.1168-92dup	XM_011523815.4:c.1168-93_1168-92dup	XM_011523815.4:c.1168-94_1168-92dup	XM_011523815.4:c.1168-95_1168-92dup	XM_011523815.4:c.1168-96_1168-92dup	XM_011523815.4:c.1168-97_1168-92dup	XM_011523815.4:c.1168-98_1168-92dup	XM_011523815.4:c.1168-99_1168-92dup	XM_011523815.4:c.1168-100_1168-92dup	XM_011523815.4:c.1168-101_1168-92dup	XM_011523815.4:c.1168-102_1168-92dup	XM_011523815.4:c.1168-103_1168-92dup	XM_011523815.4:c.1168-92_1168-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X1	XM_017024539.2:c.2083-92=	XM_017024539.2:c.2083-98_2083-92del	XM_017024539.2:c.2083-97_2083-92del	XM_017024539.2:c.2083-96_2083-92del	XM_017024539.2:c.2083-95_2083-92del	XM_017024539.2:c.2083-94_2083-92del	XM_017024539.2:c.2083-93_2083-92del	XM_017024539.2:c.2083-92del	XM_017024539.2:c.2083-92dup	XM_017024539.2:c.2083-93_2083-92dup	XM_017024539.2:c.2083-94_2083-92dup	XM_017024539.2:c.2083-95_2083-92dup	XM_017024539.2:c.2083-96_2083-92dup	XM_017024539.2:c.2083-97_2083-92dup	XM_017024539.2:c.2083-98_2083-92dup	XM_017024539.2:c.2083-99_2083-92dup	XM_017024539.2:c.2083-100_2083-92dup	XM_017024539.2:c.2083-101_2083-92dup	XM_017024539.2:c.2083-102_2083-92dup	XM_017024539.2:c.2083-103_2083-92dup	XM_017024539.2:c.2083-92_2083-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X2	XM_017024540.3:c.1984-92=	XM_017024540.3:c.1984-98_1984-92del	XM_017024540.3:c.1984-97_1984-92del	XM_017024540.3:c.1984-96_1984-92del	XM_017024540.3:c.1984-95_1984-92del	XM_017024540.3:c.1984-94_1984-92del	XM_017024540.3:c.1984-93_1984-92del	XM_017024540.3:c.1984-92del	XM_017024540.3:c.1984-92dup	XM_017024540.3:c.1984-93_1984-92dup	XM_017024540.3:c.1984-94_1984-92dup	XM_017024540.3:c.1984-95_1984-92dup	XM_017024540.3:c.1984-96_1984-92dup	XM_017024540.3:c.1984-97_1984-92dup	XM_017024540.3:c.1984-98_1984-92dup	XM_017024540.3:c.1984-99_1984-92dup	XM_017024540.3:c.1984-100_1984-92dup	XM_017024540.3:c.1984-101_1984-92dup	XM_017024540.3:c.1984-102_1984-92dup	XM_017024540.3:c.1984-103_1984-92dup	XM_017024540.3:c.1984-92_1984-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X16	XM_017024542.3:c.661-92=	XM_017024542.3:c.661-98_661-92del	XM_017024542.3:c.661-97_661-92del	XM_017024542.3:c.661-96_661-92del	XM_017024542.3:c.661-95_661-92del	XM_017024542.3:c.661-94_661-92del	XM_017024542.3:c.661-93_661-92del	XM_017024542.3:c.661-92del	XM_017024542.3:c.661-92dup	XM_017024542.3:c.661-93_661-92dup	XM_017024542.3:c.661-94_661-92dup	XM_017024542.3:c.661-95_661-92dup	XM_017024542.3:c.661-96_661-92dup	XM_017024542.3:c.661-97_661-92dup	XM_017024542.3:c.661-98_661-92dup	XM_017024542.3:c.661-99_661-92dup	XM_017024542.3:c.661-100_661-92dup	XM_017024542.3:c.661-101_661-92dup	XM_017024542.3:c.661-102_661-92dup	XM_017024542.3:c.661-103_661-92dup	XM_017024542.3:c.661-92_661-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X17	XM_017024543.3:c.652-92=	XM_017024543.3:c.652-98_652-92del	XM_017024543.3:c.652-97_652-92del	XM_017024543.3:c.652-96_652-92del	XM_017024543.3:c.652-95_652-92del	XM_017024543.3:c.652-94_652-92del	XM_017024543.3:c.652-93_652-92del	XM_017024543.3:c.652-92del	XM_017024543.3:c.652-92dup	XM_017024543.3:c.652-93_652-92dup	XM_017024543.3:c.652-94_652-92dup	XM_017024543.3:c.652-95_652-92dup	XM_017024543.3:c.652-96_652-92dup	XM_017024543.3:c.652-97_652-92dup	XM_017024543.3:c.652-98_652-92dup	XM_017024543.3:c.652-99_652-92dup	XM_017024543.3:c.652-100_652-92dup	XM_017024543.3:c.652-101_652-92dup	XM_017024543.3:c.652-102_652-92dup	XM_017024543.3:c.652-103_652-92dup	XM_017024543.3:c.652-92_652-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X3	XM_047435860.1:c.1984-92=	XM_047435860.1:c.1984-98_1984-92del	XM_047435860.1:c.1984-97_1984-92del	XM_047435860.1:c.1984-96_1984-92del	XM_047435860.1:c.1984-95_1984-92del	XM_047435860.1:c.1984-94_1984-92del	XM_047435860.1:c.1984-93_1984-92del	XM_047435860.1:c.1984-92del	XM_047435860.1:c.1984-92dup	XM_047435860.1:c.1984-93_1984-92dup	XM_047435860.1:c.1984-94_1984-92dup	XM_047435860.1:c.1984-95_1984-92dup	XM_047435860.1:c.1984-96_1984-92dup	XM_047435860.1:c.1984-97_1984-92dup	XM_047435860.1:c.1984-98_1984-92dup	XM_047435860.1:c.1984-99_1984-92dup	XM_047435860.1:c.1984-100_1984-92dup	XM_047435860.1:c.1984-101_1984-92dup	XM_047435860.1:c.1984-102_1984-92dup	XM_047435860.1:c.1984-103_1984-92dup	XM_047435860.1:c.1984-92_1984-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X4	XM_047435861.1:c.2083-92=	XM_047435861.1:c.2083-98_2083-92del	XM_047435861.1:c.2083-97_2083-92del	XM_047435861.1:c.2083-96_2083-92del	XM_047435861.1:c.2083-95_2083-92del	XM_047435861.1:c.2083-94_2083-92del	XM_047435861.1:c.2083-93_2083-92del	XM_047435861.1:c.2083-92del	XM_047435861.1:c.2083-92dup	XM_047435861.1:c.2083-93_2083-92dup	XM_047435861.1:c.2083-94_2083-92dup	XM_047435861.1:c.2083-95_2083-92dup	XM_047435861.1:c.2083-96_2083-92dup	XM_047435861.1:c.2083-97_2083-92dup	XM_047435861.1:c.2083-98_2083-92dup	XM_047435861.1:c.2083-99_2083-92dup	XM_047435861.1:c.2083-100_2083-92dup	XM_047435861.1:c.2083-101_2083-92dup	XM_047435861.1:c.2083-102_2083-92dup	XM_047435861.1:c.2083-103_2083-92dup	XM_047435861.1:c.2083-92_2083-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X5	XM_047435862.1:c.2083-92=	XM_047435862.1:c.2083-98_2083-92del	XM_047435862.1:c.2083-97_2083-92del	XM_047435862.1:c.2083-96_2083-92del	XM_047435862.1:c.2083-95_2083-92del	XM_047435862.1:c.2083-94_2083-92del	XM_047435862.1:c.2083-93_2083-92del	XM_047435862.1:c.2083-92del	XM_047435862.1:c.2083-92dup	XM_047435862.1:c.2083-93_2083-92dup	XM_047435862.1:c.2083-94_2083-92dup	XM_047435862.1:c.2083-95_2083-92dup	XM_047435862.1:c.2083-96_2083-92dup	XM_047435862.1:c.2083-97_2083-92dup	XM_047435862.1:c.2083-98_2083-92dup	XM_047435862.1:c.2083-99_2083-92dup	XM_047435862.1:c.2083-100_2083-92dup	XM_047435862.1:c.2083-101_2083-92dup	XM_047435862.1:c.2083-102_2083-92dup	XM_047435862.1:c.2083-103_2083-92dup	XM_047435862.1:c.2083-92_2083-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X8	XM_047435863.1:c.1303-92=	XM_047435863.1:c.1303-98_1303-92del	XM_047435863.1:c.1303-97_1303-92del	XM_047435863.1:c.1303-96_1303-92del	XM_047435863.1:c.1303-95_1303-92del	XM_047435863.1:c.1303-94_1303-92del	XM_047435863.1:c.1303-93_1303-92del	XM_047435863.1:c.1303-92del	XM_047435863.1:c.1303-92dup	XM_047435863.1:c.1303-93_1303-92dup	XM_047435863.1:c.1303-94_1303-92dup	XM_047435863.1:c.1303-95_1303-92dup	XM_047435863.1:c.1303-96_1303-92dup	XM_047435863.1:c.1303-97_1303-92dup	XM_047435863.1:c.1303-98_1303-92dup	XM_047435863.1:c.1303-99_1303-92dup	XM_047435863.1:c.1303-100_1303-92dup	XM_047435863.1:c.1303-101_1303-92dup	XM_047435863.1:c.1303-102_1303-92dup	XM_047435863.1:c.1303-103_1303-92dup	XM_047435863.1:c.1303-92_1303-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X14	XM_047435864.1:c.1168-92=	XM_047435864.1:c.1168-98_1168-92del	XM_047435864.1:c.1168-97_1168-92del	XM_047435864.1:c.1168-96_1168-92del	XM_047435864.1:c.1168-95_1168-92del	XM_047435864.1:c.1168-94_1168-92del	XM_047435864.1:c.1168-93_1168-92del	XM_047435864.1:c.1168-92del	XM_047435864.1:c.1168-92dup	XM_047435864.1:c.1168-93_1168-92dup	XM_047435864.1:c.1168-94_1168-92dup	XM_047435864.1:c.1168-95_1168-92dup	XM_047435864.1:c.1168-96_1168-92dup	XM_047435864.1:c.1168-97_1168-92dup	XM_047435864.1:c.1168-98_1168-92dup	XM_047435864.1:c.1168-99_1168-92dup	XM_047435864.1:c.1168-100_1168-92dup	XM_047435864.1:c.1168-101_1168-92dup	XM_047435864.1:c.1168-102_1168-92dup	XM_047435864.1:c.1168-103_1168-92dup	XM_047435864.1:c.1168-92_1168-91insAAAAAAAAAAAAAAAAAAAAAAAAAA
ABR transcript variant X15	XM_047435865.1:c.1036-92=	XM_047435865.1:c.1036-98_1036-92del	XM_047435865.1:c.1036-97_1036-92del	XM_047435865.1:c.1036-96_1036-92del	XM_047435865.1:c.1036-95_1036-92del	XM_047435865.1:c.1036-94_1036-92del	XM_047435865.1:c.1036-93_1036-92del	XM_047435865.1:c.1036-92del	XM_047435865.1:c.1036-92dup	XM_047435865.1:c.1036-93_1036-92dup	XM_047435865.1:c.1036-94_1036-92dup	XM_047435865.1:c.1036-95_1036-92dup	XM_047435865.1:c.1036-96_1036-92dup	XM_047435865.1:c.1036-97_1036-92dup	XM_047435865.1:c.1036-98_1036-92dup	XM_047435865.1:c.1036-99_1036-92dup	XM_047435865.1:c.1036-100_1036-92dup	XM_047435865.1:c.1036-101_1036-92dup	XM_047435865.1:c.1036-102_1036-92dup	XM_047435865.1:c.1036-103_1036-92dup	XM_047435865.1:c.1036-92_1036-91insAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

61 SubSNP, 31 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95685915	Feb 13, 2009 (130)
2	1000GENOMES	ss1376268911	Aug 21, 2014 (142)
3	SWEGEN	ss3015061371	Nov 08, 2017 (151)
4	SWEGEN	ss3015061372	Nov 08, 2017 (151)
5	SWEGEN	ss3015061373	Nov 08, 2017 (151)
6	SWEGEN	ss3015061374	Nov 08, 2017 (151)
7	MCHAISSO	ss3063856525	Nov 08, 2017 (151)
8	MCHAISSO	ss3064698167	Nov 08, 2017 (151)
9	MCHAISSO	ss3065635250	Nov 08, 2017 (151)
10	EVA_DECODE	ss3699926743	Jul 13, 2019 (153)
11	EVA_DECODE	ss3699926744	Jul 13, 2019 (153)
12	EVA_DECODE	ss3699926745	Jul 13, 2019 (153)
13	EVA_DECODE	ss3699926746	Jul 13, 2019 (153)
14	EVA_DECODE	ss3699926747	Jul 13, 2019 (153)
15	PACBIO	ss3793098097	Jul 13, 2019 (153)
16	PACBIO	ss3793098098	Jul 13, 2019 (153)
17	PACBIO	ss3797983605	Jul 13, 2019 (153)
18	PACBIO	ss3797983606	Jul 13, 2019 (153)
19	KHV_HUMAN_GENOMES	ss3819625942	Jul 13, 2019 (153)
20	EVA	ss3834737673	Apr 27, 2020 (154)
21	KOGIC	ss3978240675	Apr 27, 2020 (154)
22	KOGIC	ss3978240676	Apr 27, 2020 (154)
23	KOGIC	ss3978240677	Apr 27, 2020 (154)
24	GNOMAD	ss4306668346	Apr 26, 2021 (155)
25	GNOMAD	ss4306668347	Apr 26, 2021 (155)
26	GNOMAD	ss4306668348	Apr 26, 2021 (155)
27	GNOMAD	ss4306668349	Apr 26, 2021 (155)
28	GNOMAD	ss4306668350	Apr 26, 2021 (155)
29	GNOMAD	ss4306668351	Apr 26, 2021 (155)
30	GNOMAD	ss4306668352	Apr 26, 2021 (155)
31	GNOMAD	ss4306668353	Apr 26, 2021 (155)
32	GNOMAD	ss4306668354	Apr 26, 2021 (155)
33	GNOMAD	ss4306668355	Apr 26, 2021 (155)
34	GNOMAD	ss4306668356	Apr 26, 2021 (155)
35	GNOMAD	ss4306668357	Apr 26, 2021 (155)
36	GNOMAD	ss4306668358	Apr 26, 2021 (155)
37	GNOMAD	ss4306668360	Apr 26, 2021 (155)
38	GNOMAD	ss4306668361	Apr 26, 2021 (155)
39	GNOMAD	ss4306668362	Apr 26, 2021 (155)
40	GNOMAD	ss4306668363	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5221124181	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5221124182	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5221124183	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5221124184	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5221124185	Apr 26, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5302147022	Oct 17, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5302147023	Oct 17, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5302147024	Oct 17, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5302147025	Oct 17, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5302147026	Oct 17, 2022 (156)
51	HUGCELL_USP	ss5495358729	Oct 17, 2022 (156)
52	HUGCELL_USP	ss5495358730	Oct 17, 2022 (156)
53	HUGCELL_USP	ss5495358731	Oct 17, 2022 (156)
54	HUGCELL_USP	ss5495358732	Oct 17, 2022 (156)
55	HUGCELL_USP	ss5495358733	Oct 17, 2022 (156)
56	EVA	ss5623969161	Oct 17, 2022 (156)
57	TOMMO_GENOMICS	ss5776601959	Oct 17, 2022 (156)
58	TOMMO_GENOMICS	ss5776601960	Oct 17, 2022 (156)
59	TOMMO_GENOMICS	ss5776601961	Oct 17, 2022 (156)
60	TOMMO_GENOMICS	ss5776601963	Oct 17, 2022 (156)
61	EVA	ss5980944187	Oct 17, 2022 (156)
62	1000Genomes	NC_000017.10 - 961377	Oct 12, 2018 (152)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 499288656 (NC_000017.11:1058136::T 19890/102636) Row 499288657 (NC_000017.11:1058136::TT 58419/102708) Row 499288658 (NC_000017.11:1058136::TTT 9071/102826)...	-	Apr 26, 2021 (155)
80	Korean Genome Project Submission ignored due to conflicting rows: Row 34618676 (NC_000017.11:1058136::T 79/394) Row 34618677 (NC_000017.11:1058136::TTT 14/394) Row 34618678 (NC_000017.11:1058136::TT 29/394)	-	Apr 27, 2020 (154)
81	Korean Genome Project Submission ignored due to conflicting rows: Row 34618676 (NC_000017.11:1058136::T 79/394) Row 34618677 (NC_000017.11:1058136::TTT 14/394) Row 34618678 (NC_000017.11:1058136::TT 29/394)	-	Apr 27, 2020 (154)
82	Korean Genome Project Submission ignored due to conflicting rows: Row 34618676 (NC_000017.11:1058136::T 79/394) Row 34618677 (NC_000017.11:1058136::TTT 14/394) Row 34618678 (NC_000017.11:1058136::TT 29/394)	-	Apr 27, 2020 (154)
83	8.3KJPN Submission ignored due to conflicting rows: Row 79093488 (NC_000017.10:961376::TT 11204/15890) Row 79093489 (NC_000017.10:961376::T 1683/15890) Row 79093490 (NC_000017.10:961376::TTT 201/15890)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 79093488 (NC_000017.10:961376::TT 11204/15890) Row 79093489 (NC_000017.10:961376::T 1683/15890) Row 79093490 (NC_000017.10:961376::TTT 201/15890)...	-	Apr 26, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 79093488 (NC_000017.10:961376::TT 11204/15890) Row 79093489 (NC_000017.10:961376::T 1683/15890) Row 79093490 (NC_000017.10:961376::TTT 201/15890)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 79093488 (NC_000017.10:961376::TT 11204/15890) Row 79093489 (NC_000017.10:961376::T 1683/15890) Row 79093490 (NC_000017.10:961376::TTT 201/15890)...	-	Apr 26, 2021 (155)
87	8.3KJPN Submission ignored due to conflicting rows: Row 79093488 (NC_000017.10:961376::TT 11204/15890) Row 79093489 (NC_000017.10:961376::T 1683/15890) Row 79093490 (NC_000017.10:961376::TTT 201/15890)...	-	Apr 26, 2021 (155)
88	14KJPN Submission ignored due to conflicting rows: Row 110439063 (NC_000017.11:1058136::T 2847/27026) Row 110439064 (NC_000017.11:1058136::TT 19745/27026) Row 110439065 (NC_000017.11:1058136::TTT 280/27026)...	-	Oct 17, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 110439063 (NC_000017.11:1058136::T 2847/27026) Row 110439064 (NC_000017.11:1058136::TT 19745/27026) Row 110439065 (NC_000017.11:1058136::TTT 280/27026)...	-	Oct 17, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 110439063 (NC_000017.11:1058136::T 2847/27026) Row 110439064 (NC_000017.11:1058136::TT 19745/27026) Row 110439065 (NC_000017.11:1058136::TTT 280/27026)...	-	Oct 17, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 110439063 (NC_000017.11:1058136::T 2847/27026) Row 110439064 (NC_000017.11:1058136::TT 19745/27026) Row 110439065 (NC_000017.11:1058136::TTT 280/27026)...	-	Oct 17, 2022 (156)
92	ALFA	NC_000017.11 - 1058137	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)
rs72053859	May 11, 2012 (137)
rs72284947	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4306668363	NC_000017.11:1058136:TTTTTTT:	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
4780149539	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
4780149539	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5221124185	NC_000017.10:961376:TTTTT:	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
4780149539	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
4780149539	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4306668362	NC_000017.11:1058136:TTT:	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
4780149539	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4306668361	NC_000017.11:1058136:TT:	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
4780149539	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3699926743, ss4306668360, ss5302147026, ss5495358733	NC_000017.11:1058136:T:	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
4780149539	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
70803772, ss1376268911, ss3015061373, ss3793098097, ss3797983605, ss5221124182, ss5623969161, ss5980944187	NC_000017.10:961376::T	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3819625942, ss3978240675, ss4306668346, ss5302147022, ss5495358729, ss5776601959	NC_000017.11:1058136::T	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
4780149539	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3699926744	NC_000017.11:1058137::T	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss95685915	NT_010718.16:564770::T	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3015061371, ss3793098098, ss3797983606, ss3834737673, ss5221124181	NC_000017.10:961376::TT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3063856525, ss3064698167, ss3065635250, ss3978240677, ss4306668347, ss5302147023, ss5495358730, ss5776601960	NC_000017.11:1058136::TT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
4780149539	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3699926745	NC_000017.11:1058137::TT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3015061372, ss5221124183	NC_000017.10:961376::TTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3978240676, ss4306668348, ss5302147024, ss5495358731, ss5776601961	NC_000017.11:1058136::TTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
4780149539	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3699926746	NC_000017.11:1058137::TTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3015061374, ss5221124184	NC_000017.10:961376::TTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4306668349, ss5302147025, ss5495358732, ss5776601963	NC_000017.11:1058136::TTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
4780149539	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3699926747	NC_000017.11:1058137::TTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4306668350	NC_000017.11:1058136::TTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
4780149539	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4306668351	NC_000017.11:1058136::TTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4306668352	NC_000017.11:1058136::TTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4306668353	NC_000017.11:1058136::TTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4306668354	NC_000017.11:1058136::TTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4306668355	NC_000017.11:1058136::TTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4306668356	NC_000017.11:1058136::TTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4306668357	NC_000017.11:1058136::TTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4306668358	NC_000017.11:1058136::TTTTTTTTTTTT… NC_000017.11:1058136::TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:1058136:TTTTTTTTTTTTT… NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs71148422

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

rs71148422