Name: rs71070960
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.

rs71070960

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:45153977-45154000 (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)₁₄ / del(A)₁₃ / del(A)₁₂ / d…
del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₈ / ins(A)₂₇ / ins(A)₃₁
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₂=0.0800 (797/9961, ALFA)
del(A)₁₂=0.2510 (1257/5008, 1000G)
(A)₂₄=0.03 (1/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GTF2F2 : 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	9961	AAAAAAAAAAAAAAAAAAAAAAAA=0.8898	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0800, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0133, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0167, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0003, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.852413	0.016232	0.131354	32
European	Sub	8387	AAAAAAAAAAAAAAAAAAAAAAAA=0.8694	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0948, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0157, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0197, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0004, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.823152	0.019507	0.157341	26
African	Sub	708	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	22	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	686	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	76	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	60	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	84	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	406	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	56	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	244	AAAAAAAAAAAAAAAAAAAAAAAA=0.988	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.008, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.004, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	0.983471	0.0	0.016529	0

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	9961	(A)₂₄=0.8898	del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0800, del(A)₁₁=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0133, dupAA=0.0167, dupAAA=0.0000, ins(A)₂₇=0.0003
Allele Frequency Aggregator	European	Sub	8387	(A)₂₄=0.8694	del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0948, del(A)₁₁=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0157, dupAA=0.0197, dupAAA=0.0000, ins(A)₂₇=0.0004
Allele Frequency Aggregator	African	Sub	708	(A)₂₄=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, 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, ins(A)₂₇=0.000
Allele Frequency Aggregator	Latin American 2	Sub	406	(A)₂₄=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, 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, ins(A)₂₇=0.000
Allele Frequency Aggregator	Other	Sub	244	(A)₂₄=0.988	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.008, del(A)₁₁=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.004, dupAAA=0.000, ins(A)₂₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	84	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, 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, ins(A)₂₇=0.00
Allele Frequency Aggregator	Asian	Sub	76	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, 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, ins(A)₂₇=0.00
Allele Frequency Aggregator	South Asian	Sub	56	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, 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, ins(A)₂₇=0.00
1000Genomes	Global	Study-wide	5008	(A)₂₄=0.7490	del(A)₁₂=0.2510
1000Genomes	African	Sub	1322	(A)₂₄=0.5560	del(A)₁₂=0.4440
1000Genomes	East Asian	Sub	1008	(A)₂₄=0.8780	del(A)₁₂=0.1220
1000Genomes	Europe	Sub	1006	(A)₂₄=0.7376	del(A)₁₂=0.2624
1000Genomes	South Asian	Sub	978	(A)₂₄=0.866	del(A)₁₂=0.134
1000Genomes	American	Sub	694	(A)₂₄=0.781	del(A)₁₂=0.219
The Danish reference pan genome	Danish	Study-wide	40	(A)₂₄=0.03	del(A)₁₂=0.97

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 13	NC_000013.11:g.45153987_45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45153988_45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45153989_45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45153990_45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45153992_45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45153993_45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45153994_45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45153995_45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45153996_45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45153997_45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45153998_45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45153999_45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45154000del
GRCh38.p14 chr 13	NC_000013.11:g.45154000dup
GRCh38.p14 chr 13	NC_000013.11:g.45153999_45154000dup
GRCh38.p14 chr 13	NC_000013.11:g.45153998_45154000dup
GRCh38.p14 chr 13	NC_000013.11:g.45153997_45154000dup
GRCh38.p14 chr 13	NC_000013.11:g.45153996_45154000dup
GRCh38.p14 chr 13	NC_000013.11:g.45153993_45154000dup
GRCh38.p14 chr 13	NC_000013.11:g.45154000_45154001insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 13	NC_000013.11:g.45154000_45154001insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 13	NC_000013.10:g.45728122_45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728123_45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728124_45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728125_45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728127_45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728128_45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728129_45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728130_45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728131_45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728132_45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728133_45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728134_45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728135del
GRCh37.p13 chr 13	NC_000013.10:g.45728135dup
GRCh37.p13 chr 13	NC_000013.10:g.45728134_45728135dup
GRCh37.p13 chr 13	NC_000013.10:g.45728133_45728135dup
GRCh37.p13 chr 13	NC_000013.10:g.45728132_45728135dup
GRCh37.p13 chr 13	NC_000013.10:g.45728131_45728135dup
GRCh37.p13 chr 13	NC_000013.10:g.45728128_45728135dup
GRCh37.p13 chr 13	NC_000013.10:g.45728135_45728136insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 13	NC_000013.10:g.45728135_45728136insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: GTF2F2, general transcription factor IIF subunit 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GTF2F2 transcript	NM_004128.3:c.304+2156_30… NM_004128.3:c.304+2156_304+2169del	N/A	Intron Variant
GTF2F2 transcript variant X1	XM_011535052.4:c.304+2156… XM_011535052.4:c.304+2156_304+2169del	N/A	Intron Variant
GTF2F2 transcript variant X3	XM_011535053.4:c.304+2156… XM_011535053.4:c.304+2156_304+2169del	N/A	Intron Variant
GTF2F2 transcript variant X2	XM_017020551.2:c.	N/A	Genic Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₄=	del(A)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₈	ins(A)₂₇	ins(A)₃₁
GRCh38.p14 chr 13	NC_000013.11:g.45153977_45154000=	NC_000013.11:g.45153987_45154000del	NC_000013.11:g.45153988_45154000del	NC_000013.11:g.45153989_45154000del	NC_000013.11:g.45153990_45154000del	NC_000013.11:g.45153992_45154000del	NC_000013.11:g.45153993_45154000del	NC_000013.11:g.45153994_45154000del	NC_000013.11:g.45153995_45154000del	NC_000013.11:g.45153996_45154000del	NC_000013.11:g.45153997_45154000del	NC_000013.11:g.45153998_45154000del	NC_000013.11:g.45153999_45154000del	NC_000013.11:g.45154000del	NC_000013.11:g.45154000dup	NC_000013.11:g.45153999_45154000dup	NC_000013.11:g.45153998_45154000dup	NC_000013.11:g.45153997_45154000dup	NC_000013.11:g.45153996_45154000dup	NC_000013.11:g.45153993_45154000dup	NC_000013.11:g.45154000_45154001insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:g.45154000_45154001insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 13	NC_000013.10:g.45728112_45728135=	NC_000013.10:g.45728122_45728135del	NC_000013.10:g.45728123_45728135del	NC_000013.10:g.45728124_45728135del	NC_000013.10:g.45728125_45728135del	NC_000013.10:g.45728127_45728135del	NC_000013.10:g.45728128_45728135del	NC_000013.10:g.45728129_45728135del	NC_000013.10:g.45728130_45728135del	NC_000013.10:g.45728131_45728135del	NC_000013.10:g.45728132_45728135del	NC_000013.10:g.45728133_45728135del	NC_000013.10:g.45728134_45728135del	NC_000013.10:g.45728135del	NC_000013.10:g.45728135dup	NC_000013.10:g.45728134_45728135dup	NC_000013.10:g.45728133_45728135dup	NC_000013.10:g.45728132_45728135dup	NC_000013.10:g.45728131_45728135dup	NC_000013.10:g.45728128_45728135dup	NC_000013.10:g.45728135_45728136insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.10:g.45728135_45728136insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GTF2F2 transcript	NM_004128.2:c.304+2146=	NM_004128.2:c.304+2156_304+2169del	NM_004128.2:c.304+2157_304+2169del	NM_004128.2:c.304+2158_304+2169del	NM_004128.2:c.304+2159_304+2169del	NM_004128.2:c.304+2161_304+2169del	NM_004128.2:c.304+2162_304+2169del	NM_004128.2:c.304+2163_304+2169del	NM_004128.2:c.304+2164_304+2169del	NM_004128.2:c.304+2165_304+2169del	NM_004128.2:c.304+2166_304+2169del	NM_004128.2:c.304+2167_304+2169del	NM_004128.2:c.304+2168_304+2169del	NM_004128.2:c.304+2169del	NM_004128.2:c.304+2169dup	NM_004128.2:c.304+2168_304+2169dup	NM_004128.2:c.304+2167_304+2169dup	NM_004128.2:c.304+2166_304+2169dup	NM_004128.2:c.304+2165_304+2169dup	NM_004128.2:c.304+2162_304+2169dup	NM_004128.2:c.304+2169_304+2170insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_004128.2:c.304+2169_304+2170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GTF2F2 transcript	NM_004128.3:c.304+2146=	NM_004128.3:c.304+2156_304+2169del	NM_004128.3:c.304+2157_304+2169del	NM_004128.3:c.304+2158_304+2169del	NM_004128.3:c.304+2159_304+2169del	NM_004128.3:c.304+2161_304+2169del	NM_004128.3:c.304+2162_304+2169del	NM_004128.3:c.304+2163_304+2169del	NM_004128.3:c.304+2164_304+2169del	NM_004128.3:c.304+2165_304+2169del	NM_004128.3:c.304+2166_304+2169del	NM_004128.3:c.304+2167_304+2169del	NM_004128.3:c.304+2168_304+2169del	NM_004128.3:c.304+2169del	NM_004128.3:c.304+2169dup	NM_004128.3:c.304+2168_304+2169dup	NM_004128.3:c.304+2167_304+2169dup	NM_004128.3:c.304+2166_304+2169dup	NM_004128.3:c.304+2165_304+2169dup	NM_004128.3:c.304+2162_304+2169dup	NM_004128.3:c.304+2169_304+2170insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_004128.3:c.304+2169_304+2170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GTF2F2 transcript variant X1	XM_011535052.4:c.304+2146=	XM_011535052.4:c.304+2156_304+2169del	XM_011535052.4:c.304+2157_304+2169del	XM_011535052.4:c.304+2158_304+2169del	XM_011535052.4:c.304+2159_304+2169del	XM_011535052.4:c.304+2161_304+2169del	XM_011535052.4:c.304+2162_304+2169del	XM_011535052.4:c.304+2163_304+2169del	XM_011535052.4:c.304+2164_304+2169del	XM_011535052.4:c.304+2165_304+2169del	XM_011535052.4:c.304+2166_304+2169del	XM_011535052.4:c.304+2167_304+2169del	XM_011535052.4:c.304+2168_304+2169del	XM_011535052.4:c.304+2169del	XM_011535052.4:c.304+2169dup	XM_011535052.4:c.304+2168_304+2169dup	XM_011535052.4:c.304+2167_304+2169dup	XM_011535052.4:c.304+2166_304+2169dup	XM_011535052.4:c.304+2165_304+2169dup	XM_011535052.4:c.304+2162_304+2169dup	XM_011535052.4:c.304+2169_304+2170insAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_011535052.4:c.304+2169_304+2170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GTF2F2 transcript variant X3	XM_011535053.4:c.304+2146=	XM_011535053.4:c.304+2156_304+2169del	XM_011535053.4:c.304+2157_304+2169del	XM_011535053.4:c.304+2158_304+2169del	XM_011535053.4:c.304+2159_304+2169del	XM_011535053.4:c.304+2161_304+2169del	XM_011535053.4:c.304+2162_304+2169del	XM_011535053.4:c.304+2163_304+2169del	XM_011535053.4:c.304+2164_304+2169del	XM_011535053.4:c.304+2165_304+2169del	XM_011535053.4:c.304+2166_304+2169del	XM_011535053.4:c.304+2167_304+2169del	XM_011535053.4:c.304+2168_304+2169del	XM_011535053.4:c.304+2169del	XM_011535053.4:c.304+2169dup	XM_011535053.4:c.304+2168_304+2169dup	XM_011535053.4:c.304+2167_304+2169dup	XM_011535053.4:c.304+2166_304+2169dup	XM_011535053.4:c.304+2165_304+2169dup	XM_011535053.4:c.304+2162_304+2169dup	XM_011535053.4:c.304+2169_304+2170insAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_011535053.4:c.304+2169_304+2170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

55 SubSNP, 37 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95619223	Feb 13, 2009 (130)
2	BILGI_BIOE	ss666597765	Apr 25, 2013 (138)
3	1000GENOMES	ss1373114358	Aug 21, 2014 (142)
4	EVA_GENOME_DK	ss1576447167	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1707771438	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1707771829	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1710600330	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1710600331	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710600366	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1710600367	Apr 01, 2015 (144)
11	HAMMER_LAB	ss1807594669	Sep 08, 2015 (146)
12	SWEGEN	ss3010962661	Nov 08, 2017 (151)
13	EVA_DECODE	ss3695220698	Jul 13, 2019 (153)
14	EVA_DECODE	ss3695220699	Jul 13, 2019 (153)
15	EVA_DECODE	ss3695220700	Jul 13, 2019 (153)
16	EVA_DECODE	ss3695220701	Jul 13, 2019 (153)
17	EVA_DECODE	ss3695220702	Jul 13, 2019 (153)
18	KHV_HUMAN_GENOMES	ss3816751716	Jul 13, 2019 (153)
19	EVA	ss3833528719	Apr 27, 2020 (154)
20	GNOMAD	ss4265237793	Apr 26, 2021 (155)
21	GNOMAD	ss4265237794	Apr 26, 2021 (155)
22	GNOMAD	ss4265237795	Apr 26, 2021 (155)
23	GNOMAD	ss4265237796	Apr 26, 2021 (155)
24	GNOMAD	ss4265237797	Apr 26, 2021 (155)
25	GNOMAD	ss4265237798	Apr 26, 2021 (155)
26	GNOMAD	ss4265237799	Apr 26, 2021 (155)
27	GNOMAD	ss4265237800	Apr 26, 2021 (155)
28	GNOMAD	ss4265237801	Apr 26, 2021 (155)
29	GNOMAD	ss4265237802	Apr 26, 2021 (155)
30	GNOMAD	ss4265237803	Apr 26, 2021 (155)
31	GNOMAD	ss4265237804	Apr 26, 2021 (155)
32	GNOMAD	ss4265237805	Apr 26, 2021 (155)
33	GNOMAD	ss4265237806	Apr 26, 2021 (155)
34	GNOMAD	ss4265237807	Apr 26, 2021 (155)
35	GNOMAD	ss4265237808	Apr 26, 2021 (155)
36	GNOMAD	ss4265237809	Apr 26, 2021 (155)
37	GNOMAD	ss4265237810	Apr 26, 2021 (155)
38	GNOMAD	ss4265237811	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5209836437	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5209836438	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5209836439	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5209836440	Apr 26, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5293611569	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5293611570	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5293611571	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5487987358	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5487987359	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5487987360	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5487987361	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5761665382	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5761665383	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5761665384	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5761665385	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5761665387	Oct 16, 2022 (156)
55	EVA	ss5850714377	Oct 16, 2022 (156)
56	1000Genomes	NC_000013.10 - 45728112	Oct 12, 2018 (152)
57	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 33859745 (NC_000013.10:45728112:AAAAAAAAAAA: 3173/3854) Row 33859746 (NC_000013.10:45728111:AAAAAAAAAAAAA: 197/3854) Row 33859747 (NC_000013.10:45728113:AAAAAAAAA: 108/3854)	-	Oct 12, 2018 (152)
58	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 33859745 (NC_000013.10:45728112:AAAAAAAAAAA: 3173/3854) Row 33859746 (NC_000013.10:45728111:AAAAAAAAAAAAA: 197/3854) Row 33859747 (NC_000013.10:45728113:AAAAAAAAA: 108/3854)	-	Oct 12, 2018 (152)
59	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 33859745 (NC_000013.10:45728112:AAAAAAAAAAA: 3173/3854) Row 33859746 (NC_000013.10:45728111:AAAAAAAAAAAAA: 197/3854) Row 33859747 (NC_000013.10:45728113:AAAAAAAAA: 108/3854)	-	Oct 12, 2018 (152)
60	The Danish reference pan genome	NC_000013.10 - 45728112	Apr 27, 2020 (154)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 429706919 (NC_000013.11:45153976::A 7865/65844) Row 429706920 (NC_000013.11:45153976::AA 467/65208) Row 429706921 (NC_000013.11:45153976::AAA 58/67084)...	-	Apr 26, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 67805744 (NC_000013.10:45728111:AAAAAAAAAAAA: 54/16692) Row 67805745 (NC_000013.10:45728111::A 976/16692) Row 67805746 (NC_000013.10:45728111::AA 219/16692)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 67805744 (NC_000013.10:45728111:AAAAAAAAAAAA: 54/16692) Row 67805745 (NC_000013.10:45728111::A 976/16692) Row 67805746 (NC_000013.10:45728111::AA 219/16692)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 67805744 (NC_000013.10:45728111:AAAAAAAAAAAA: 54/16692) Row 67805745 (NC_000013.10:45728111::A 976/16692) Row 67805746 (NC_000013.10:45728111::AA 219/16692)...	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 67805744 (NC_000013.10:45728111:AAAAAAAAAAAA: 54/16692) Row 67805745 (NC_000013.10:45728111::A 976/16692) Row 67805746 (NC_000013.10:45728111::AA 219/16692)...	-	Apr 26, 2021 (155)
84	14KJPN Submission ignored due to conflicting rows: Row 95502486 (NC_000013.11:45153976::AA 387/28146) Row 95502487 (NC_000013.11:45153976::A 1595/28146) Row 95502488 (NC_000013.11:45153976:AAAAAAAAAAAA: 104/28146)...	-	Oct 16, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 95502486 (NC_000013.11:45153976::AA 387/28146) Row 95502487 (NC_000013.11:45153976::A 1595/28146) Row 95502488 (NC_000013.11:45153976:AAAAAAAAAAAA: 104/28146)...	-	Oct 16, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 95502486 (NC_000013.11:45153976::AA 387/28146) Row 95502487 (NC_000013.11:45153976::A 1595/28146) Row 95502488 (NC_000013.11:45153976:AAAAAAAAAAAA: 104/28146)...	-	Oct 16, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 95502486 (NC_000013.11:45153976::AA 387/28146) Row 95502487 (NC_000013.11:45153976::A 1595/28146) Row 95502488 (NC_000013.11:45153976:AAAAAAAAAAAA: 104/28146)...	-	Oct 16, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 95502486 (NC_000013.11:45153976::AA 387/28146) Row 95502487 (NC_000013.11:45153976::A 1595/28146) Row 95502488 (NC_000013.11:45153976:AAAAAAAAAAAA: 104/28146)...	-	Oct 16, 2022 (156)
89	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33859745 (NC_000013.10:45728112:AAAAAAAAAAA: 3031/3708) Row 33859746 (NC_000013.10:45728111:AAAAAAAAAAAAA: 153/3708) Row 33859747 (NC_000013.10:45728113:AAAAAAAAA: 111/3708)	-	Oct 12, 2018 (152)
90	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33859745 (NC_000013.10:45728112:AAAAAAAAAAA: 3031/3708) Row 33859746 (NC_000013.10:45728111:AAAAAAAAAAAAA: 153/3708) Row 33859747 (NC_000013.10:45728113:AAAAAAAAA: 111/3708)	-	Oct 12, 2018 (152)
91	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33859745 (NC_000013.10:45728112:AAAAAAAAAAA: 3031/3708) Row 33859746 (NC_000013.10:45728111:AAAAAAAAAAAAA: 153/3708) Row 33859747 (NC_000013.10:45728113:AAAAAAAAA: 111/3708)	-	Oct 12, 2018 (152)
92	ALFA	NC_000013.11 - 45153977	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss1707771438, ss1707771829	NC_000013.10:45728111:AAAAAAAAAAAA… NC_000013.10:45728111:AAAAAAAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3695220702, ss4265237811	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
60949582, 27907, ss666597765, ss1373114358, ss1576447167, ss1807594669, ss3010962661, ss5209836437	NC_000013.10:45728111:AAAAAAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss1710600330, ss1710600366	NC_000013.10:45728112:AAAAAAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3816751716, ss4265237810, ss5293611570, ss5487987358, ss5761665384, ss5850714377	NC_000013.11:45153976:AAAAAAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3695220701	NC_000013.11:45153977:AAAAAAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
	NC_000013.10:45728112:AAAAAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss1710600331, ss1710600367	NC_000013.10:45728113:AAAAAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4265237809, ss5761665387	NC_000013.11:45153976:AAAAAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3695220700	NC_000013.11:45153978:AAAAAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
	NC_000013.10:45728113:AAAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4265237808	NC_000013.11:45153976:AAAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4265237807	NC_000013.11:45153976:AAAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4265237806	NC_000013.11:45153976:AAAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4265237805	NC_000013.11:45153976:AAAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4265237804	NC_000013.11:45153976:AAAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4265237803	NC_000013.11:45153976:AAAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4265237802	NC_000013.11:45153976:AAA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4265237801	NC_000013.11:45153976:AA:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5209836440	NC_000013.10:45728111:A:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4265237800, ss5293611571, ss5487987359, ss5761665385	NC_000013.11:45153976:A:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3695220699	NC_000013.11:45153988:A:	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5209836438	NC_000013.10:45728111::A	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4265237793, ss5487987360, ss5761665383	NC_000013.11:45153976::A	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3695220698	NC_000013.11:45153989::A	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95619223	NT_024524.14:26708135::A	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3833528719, ss5209836439	NC_000013.10:45728111::AA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4265237794, ss5293611569, ss5487987361, ss5761665382	NC_000013.11:45153976::AA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4265237795	NC_000013.11:45153976::AAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4265237796	NC_000013.11:45153976::AAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4265237797	NC_000013.11:45153976::AAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4265237798	NC_000013.11:45153976::AAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11914248874	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4265237799	NC_000013.11:45153976::AAAAAAAAAAA… NC_000013.11:45153976::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:45153976:AAAAAAAAAAAA… NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs71070960

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

rs71070960