Name: rs56894912
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.

rs56894912

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:74533134-74533152 (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)₄ / delTTT / delTT / delT / …
del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.00845 (127/15034, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: WBSCR23 : Non Coding Transcript Variant
GTF2IRD1 : 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	15034	TTTTTTTTTTTTTTTTTTT=0.98829	TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00845, TTTTTTTTTTTTTTTTTTTT=0.00326, TTTTTTTTTTTTTTTTTTTTT=0.00000	0.983914	0.000536	0.01555	13
European	Sub	11446	TTTTTTTTTTTTTTTTTTT=0.98480	TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.01092, TTTTTTTTTTTTTTTTTTTT=0.00428, TTTTTTTTTTTTTTTTTTTTT=0.00000	0.979174	0.000706	0.02012	10
African	Sub	2278	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	82	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	2196	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	92	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	70	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	22	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	132	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	578	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	88	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	420	TTTTTTTTTTTTTTTTTTT=0.995	TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.005, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	0.990476	0.0	0.009524	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	15034	(T)₁₉=0.98829	del(T)₄=0.00000, delTT=0.00000, delT=0.00845, dupT=0.00326, dupTT=0.00000
Allele Frequency Aggregator	European	Sub	11446	(T)₁₉=0.98480	del(T)₄=0.00000, delTT=0.00000, delT=0.01092, dupT=0.00428, dupTT=0.00000
Allele Frequency Aggregator	African	Sub	2278	(T)₁₉=1.0000	del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	578	(T)₁₉=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	420	(T)₁₉=0.995	del(T)₄=0.000, delTT=0.000, delT=0.005, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	132	(T)₁₉=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Asian	Sub	92	(T)₁₉=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	South Asian	Sub	88	(T)₁₉=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 7	NC_000007.14:g.74533149_74533152del
GRCh38.p14 chr 7	NC_000007.14:g.74533150_74533152del
GRCh38.p14 chr 7	NC_000007.14:g.74533151_74533152del
GRCh38.p14 chr 7	NC_000007.14:g.74533152del
GRCh38.p14 chr 7	NC_000007.14:g.74533152dup
GRCh38.p14 chr 7	NC_000007.14:g.74533151_74533152dup
GRCh38.p14 chr 7	NC_000007.14:g.74533150_74533152dup
GRCh37.p13 chr 7 fix patch HG1257_PATCH	NW_003871064.1:g.2062385_2062388del
GRCh37.p13 chr 7 fix patch HG1257_PATCH	NW_003871064.1:g.2062386_2062388del
GRCh37.p13 chr 7 fix patch HG1257_PATCH	NW_003871064.1:g.2062387_2062388del
GRCh37.p13 chr 7 fix patch HG1257_PATCH	NW_003871064.1:g.2062388del
GRCh37.p13 chr 7 fix patch HG1257_PATCH	NW_003871064.1:g.2062388dup
GRCh37.p13 chr 7 fix patch HG1257_PATCH	NW_003871064.1:g.2062387_2062388dup
GRCh37.p13 chr 7 fix patch HG1257_PATCH	NW_003871064.1:g.2062386_2062388dup
GTF2IRD1 RefSeqGene	NG_027954.2:g.84245_84248del
GTF2IRD1 RefSeqGene	NG_027954.2:g.84246_84248del
GTF2IRD1 RefSeqGene	NG_027954.2:g.84247_84248del
GTF2IRD1 RefSeqGene	NG_027954.2:g.84248del
GTF2IRD1 RefSeqGene	NG_027954.2:g.84248dup
GTF2IRD1 RefSeqGene	NG_027954.2:g.84247_84248dup
GTF2IRD1 RefSeqGene	NG_027954.2:g.84246_84248dup
GTF2IRD1 RefSeqGene	NG_027954.1:g.84360_84363del
GTF2IRD1 RefSeqGene	NG_027954.1:g.84361_84363del
GTF2IRD1 RefSeqGene	NG_027954.1:g.84362_84363del
GTF2IRD1 RefSeqGene	NG_027954.1:g.84363del
GTF2IRD1 RefSeqGene	NG_027954.1:g.84363dup
GTF2IRD1 RefSeqGene	NG_027954.1:g.84362_84363dup
GTF2IRD1 RefSeqGene	NG_027954.1:g.84361_84363dup
GRCh37.p13 chr 7	NC_000007.13:g.73947479_73947482del
GRCh37.p13 chr 7	NC_000007.13:g.73947480_73947482del
GRCh37.p13 chr 7	NC_000007.13:g.73947481_73947482del
GRCh37.p13 chr 7	NC_000007.13:g.73947482del
GRCh37.p13 chr 7	NC_000007.13:g.73947482dup
GRCh37.p13 chr 7	NC_000007.13:g.73947481_73947482dup
GRCh37.p13 chr 7	NC_000007.13:g.73947480_73947482dup

Gene: GTF2IRD1, GTF2I repeat domain containing 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GTF2IRD1 transcript variant 3	NM_001199207.2:c.1371-196… NM_001199207.2:c.1371-1964_1371-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant 2	NM_005685.4:c.1275-1964_1… NM_005685.4:c.1275-1964_1275-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant 1	NM_016328.3:c.1275-1964_1… NM_016328.3:c.1275-1964_1275-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X8	XM_006716182.4:c.1275-196… XM_006716182.4:c.1275-1964_1275-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X9	XM_006716183.4:c.1275-196… XM_006716183.4:c.1275-1964_1275-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X16	XM_011516713.2:c.1275-196… XM_011516713.2:c.1275-1964_1275-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X5	XM_017012802.2:c.1275-196… XM_017012802.2:c.1275-1964_1275-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X12	XM_017012804.2:c.1275-196… XM_017012804.2:c.1275-1964_1275-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X14	XM_017012805.2:c.1275-196… XM_017012805.2:c.1275-1964_1275-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X1	XM_047421056.1:c.1371-196… XM_047421056.1:c.1371-1964_1371-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X2	XM_047421057.1:c.1371-196… XM_047421057.1:c.1371-1964_1371-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X3	XM_047421058.1:c.1371-196… XM_047421058.1:c.1371-1964_1371-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X4	XM_047421059.1:c.1371-196… XM_047421059.1:c.1371-1964_1371-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X6	XM_047421060.1:c.1275-196… XM_047421060.1:c.1275-1964_1275-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X7	XM_047421061.1:c.1371-196… XM_047421061.1:c.1371-1964_1371-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X9	XM_047421062.1:c.1275-196… XM_047421062.1:c.1275-1964_1275-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X10	XM_047421063.1:c.1275-196… XM_047421063.1:c.1275-1964_1275-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X11	XM_047421064.1:c.1371-196… XM_047421064.1:c.1371-1964_1371-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X13	XM_047421065.1:c.1275-196… XM_047421065.1:c.1275-1964_1275-1961del	N/A	Intron Variant
GTF2IRD1 transcript variant X15	XM_047421066.1:c.1275-196… XM_047421066.1:c.1275-1964_1275-1961del	N/A	Intron Variant

Gene: WBSCR23, uncharacterized WBSCR23 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
WBSCR23 transcript	XR_007060383.1:n.558_561d… XR_007060383.1:n.558_561del	N/A	Non Coding Transcript Variant
WBSCR23 transcript	XR_007060383.1:n.559_561d… XR_007060383.1:n.559_561del	N/A	Non Coding Transcript Variant
WBSCR23 transcript	XR_007060383.1:n.560_561d… XR_007060383.1:n.560_561del	N/A	Non Coding Transcript Variant
WBSCR23 transcript	XR_007060383.1:n.561del	N/A	Non Coding Transcript Variant
WBSCR23 transcript	XR_007060383.1:n.561dup	N/A	Non Coding Transcript Variant
WBSCR23 transcript	XR_007060383.1:n.560_561d… XR_007060383.1:n.560_561dup	N/A	Non Coding Transcript Variant
WBSCR23 transcript	XR_007060383.1:n.559_561d… XR_007060383.1:n.559_561dup	N/A	Non Coding Transcript Variant

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

Not Reported in ClinVar

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

Placement	(T)₁₉=	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT
GRCh38.p14 chr 7	NC_000007.14:g.74533134_74533152=	NC_000007.14:g.74533149_74533152del	NC_000007.14:g.74533150_74533152del	NC_000007.14:g.74533151_74533152del	NC_000007.14:g.74533152del	NC_000007.14:g.74533152dup	NC_000007.14:g.74533151_74533152dup	NC_000007.14:g.74533150_74533152dup
GRCh37.p13 chr 7 fix patch HG1257_PATCH	NW_003871064.1:g.2062370_2062388=	NW_003871064.1:g.2062385_2062388del	NW_003871064.1:g.2062386_2062388del	NW_003871064.1:g.2062387_2062388del	NW_003871064.1:g.2062388del	NW_003871064.1:g.2062388dup	NW_003871064.1:g.2062387_2062388dup	NW_003871064.1:g.2062386_2062388dup
GTF2IRD1 RefSeqGene	NG_027954.2:g.84230_84248=	NG_027954.2:g.84245_84248del	NG_027954.2:g.84246_84248del	NG_027954.2:g.84247_84248del	NG_027954.2:g.84248del	NG_027954.2:g.84248dup	NG_027954.2:g.84247_84248dup	NG_027954.2:g.84246_84248dup
GTF2IRD1 RefSeqGene	NG_027954.1:g.84345_84363=	NG_027954.1:g.84360_84363del	NG_027954.1:g.84361_84363del	NG_027954.1:g.84362_84363del	NG_027954.1:g.84363del	NG_027954.1:g.84363dup	NG_027954.1:g.84362_84363dup	NG_027954.1:g.84361_84363dup
GRCh37.p13 chr 7	NC_000007.13:g.73947464_73947482=	NC_000007.13:g.73947479_73947482del	NC_000007.13:g.73947480_73947482del	NC_000007.13:g.73947481_73947482del	NC_000007.13:g.73947482del	NC_000007.13:g.73947482dup	NC_000007.13:g.73947481_73947482dup	NC_000007.13:g.73947480_73947482dup
WBSCR23 transcript	NM_025042.2:c.443_461=	NM_025042.2:c.458_461del	NM_025042.2:c.459_461del	NM_025042.2:c.460_461del	NM_025042.2:c.461del	NM_025042.2:c.461dup	NM_025042.2:c.460_461dup	NM_025042.2:c.459_461dup
WBSCR23 transcript	NM_025042.1:c.443_461=	NM_025042.1:c.458_461del	NM_025042.1:c.459_461del	NM_025042.1:c.460_461del	NM_025042.1:c.461del	NM_025042.1:c.461dup	NM_025042.1:c.460_461dup	NM_025042.1:c.459_461dup
WBSCR23 transcript	NM_001039145.1:c.443_461=	NM_001039145.1:c.458_461del	NM_001039145.1:c.459_461del	NM_001039145.1:c.460_461del	NM_001039145.1:c.461del	NM_001039145.1:c.461dup	NM_001039145.1:c.460_461dup	NM_001039145.1:c.459_461dup
WBSCR23 transcript	XR_007060383.1:n.543_561=	XR_007060383.1:n.558_561del	XR_007060383.1:n.559_561del	XR_007060383.1:n.560_561del	XR_007060383.1:n.561del	XR_007060383.1:n.561dup	XR_007060383.1:n.560_561dup	XR_007060383.1:n.559_561dup
GTF2IRD1 transcript variant 3	NM_001199207.1:c.1371-1979=	NM_001199207.1:c.1371-1964_1371-1961del	NM_001199207.1:c.1371-1963_1371-1961del	NM_001199207.1:c.1371-1962_1371-1961del	NM_001199207.1:c.1371-1961del	NM_001199207.1:c.1371-1961dup	NM_001199207.1:c.1371-1962_1371-1961dup	NM_001199207.1:c.1371-1963_1371-1961dup
GTF2IRD1 transcript variant 3	NM_001199207.2:c.1371-1979=	NM_001199207.2:c.1371-1964_1371-1961del	NM_001199207.2:c.1371-1963_1371-1961del	NM_001199207.2:c.1371-1962_1371-1961del	NM_001199207.2:c.1371-1961del	NM_001199207.2:c.1371-1961dup	NM_001199207.2:c.1371-1962_1371-1961dup	NM_001199207.2:c.1371-1963_1371-1961dup
GTF2IRD1 transcript variant 2	NM_005685.3:c.1275-1979=	NM_005685.3:c.1275-1964_1275-1961del	NM_005685.3:c.1275-1963_1275-1961del	NM_005685.3:c.1275-1962_1275-1961del	NM_005685.3:c.1275-1961del	NM_005685.3:c.1275-1961dup	NM_005685.3:c.1275-1962_1275-1961dup	NM_005685.3:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant 2	NM_005685.4:c.1275-1979=	NM_005685.4:c.1275-1964_1275-1961del	NM_005685.4:c.1275-1963_1275-1961del	NM_005685.4:c.1275-1962_1275-1961del	NM_005685.4:c.1275-1961del	NM_005685.4:c.1275-1961dup	NM_005685.4:c.1275-1962_1275-1961dup	NM_005685.4:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant 1	NM_016328.2:c.1275-1979=	NM_016328.2:c.1275-1964_1275-1961del	NM_016328.2:c.1275-1963_1275-1961del	NM_016328.2:c.1275-1962_1275-1961del	NM_016328.2:c.1275-1961del	NM_016328.2:c.1275-1961dup	NM_016328.2:c.1275-1962_1275-1961dup	NM_016328.2:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant 1	NM_016328.3:c.1275-1979=	NM_016328.3:c.1275-1964_1275-1961del	NM_016328.3:c.1275-1963_1275-1961del	NM_016328.3:c.1275-1962_1275-1961del	NM_016328.3:c.1275-1961del	NM_016328.3:c.1275-1961dup	NM_016328.3:c.1275-1962_1275-1961dup	NM_016328.3:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X1	XM_005250720.1:c.1275-1979=	XM_005250720.1:c.1275-1964_1275-1961del	XM_005250720.1:c.1275-1963_1275-1961del	XM_005250720.1:c.1275-1962_1275-1961del	XM_005250720.1:c.1275-1961del	XM_005250720.1:c.1275-1961dup	XM_005250720.1:c.1275-1962_1275-1961dup	XM_005250720.1:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X2	XM_005250721.1:c.1275-1979=	XM_005250721.1:c.1275-1964_1275-1961del	XM_005250721.1:c.1275-1963_1275-1961del	XM_005250721.1:c.1275-1962_1275-1961del	XM_005250721.1:c.1275-1961del	XM_005250721.1:c.1275-1961dup	XM_005250721.1:c.1275-1962_1275-1961dup	XM_005250721.1:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X3	XM_005250722.1:c.1275-1979=	XM_005250722.1:c.1275-1964_1275-1961del	XM_005250722.1:c.1275-1963_1275-1961del	XM_005250722.1:c.1275-1962_1275-1961del	XM_005250722.1:c.1275-1961del	XM_005250722.1:c.1275-1961dup	XM_005250722.1:c.1275-1962_1275-1961dup	XM_005250722.1:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X4	XM_005250723.1:c.312-1979=	XM_005250723.1:c.312-1964_312-1961del	XM_005250723.1:c.312-1963_312-1961del	XM_005250723.1:c.312-1962_312-1961del	XM_005250723.1:c.312-1961del	XM_005250723.1:c.312-1961dup	XM_005250723.1:c.312-1962_312-1961dup	XM_005250723.1:c.312-1963_312-1961dup
GTF2IRD1 transcript variant X1	XM_005277614.1:c.1275-1979=	XM_005277614.1:c.1275-1964_1275-1961del	XM_005277614.1:c.1275-1963_1275-1961del	XM_005277614.1:c.1275-1962_1275-1961del	XM_005277614.1:c.1275-1961del	XM_005277614.1:c.1275-1961dup	XM_005277614.1:c.1275-1962_1275-1961dup	XM_005277614.1:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X2	XM_005277615.1:c.1275-1979=	XM_005277615.1:c.1275-1964_1275-1961del	XM_005277615.1:c.1275-1963_1275-1961del	XM_005277615.1:c.1275-1962_1275-1961del	XM_005277615.1:c.1275-1961del	XM_005277615.1:c.1275-1961dup	XM_005277615.1:c.1275-1962_1275-1961dup	XM_005277615.1:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X3	XM_005277616.1:c.1275-1979=	XM_005277616.1:c.1275-1964_1275-1961del	XM_005277616.1:c.1275-1963_1275-1961del	XM_005277616.1:c.1275-1962_1275-1961del	XM_005277616.1:c.1275-1961del	XM_005277616.1:c.1275-1961dup	XM_005277616.1:c.1275-1962_1275-1961dup	XM_005277616.1:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X4	XM_005277617.1:c.312-1979=	XM_005277617.1:c.312-1964_312-1961del	XM_005277617.1:c.312-1963_312-1961del	XM_005277617.1:c.312-1962_312-1961del	XM_005277617.1:c.312-1961del	XM_005277617.1:c.312-1961dup	XM_005277617.1:c.312-1962_312-1961dup	XM_005277617.1:c.312-1963_312-1961dup
GTF2IRD1 transcript variant X8	XM_006716182.4:c.1275-1979=	XM_006716182.4:c.1275-1964_1275-1961del	XM_006716182.4:c.1275-1963_1275-1961del	XM_006716182.4:c.1275-1962_1275-1961del	XM_006716182.4:c.1275-1961del	XM_006716182.4:c.1275-1961dup	XM_006716182.4:c.1275-1962_1275-1961dup	XM_006716182.4:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X9	XM_006716183.4:c.1275-1979=	XM_006716183.4:c.1275-1964_1275-1961del	XM_006716183.4:c.1275-1963_1275-1961del	XM_006716183.4:c.1275-1962_1275-1961del	XM_006716183.4:c.1275-1961del	XM_006716183.4:c.1275-1961dup	XM_006716183.4:c.1275-1962_1275-1961dup	XM_006716183.4:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X16	XM_011516713.2:c.1275-1979=	XM_011516713.2:c.1275-1964_1275-1961del	XM_011516713.2:c.1275-1963_1275-1961del	XM_011516713.2:c.1275-1962_1275-1961del	XM_011516713.2:c.1275-1961del	XM_011516713.2:c.1275-1961dup	XM_011516713.2:c.1275-1962_1275-1961dup	XM_011516713.2:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X5	XM_017012802.2:c.1275-1979=	XM_017012802.2:c.1275-1964_1275-1961del	XM_017012802.2:c.1275-1963_1275-1961del	XM_017012802.2:c.1275-1962_1275-1961del	XM_017012802.2:c.1275-1961del	XM_017012802.2:c.1275-1961dup	XM_017012802.2:c.1275-1962_1275-1961dup	XM_017012802.2:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X12	XM_017012804.2:c.1275-1979=	XM_017012804.2:c.1275-1964_1275-1961del	XM_017012804.2:c.1275-1963_1275-1961del	XM_017012804.2:c.1275-1962_1275-1961del	XM_017012804.2:c.1275-1961del	XM_017012804.2:c.1275-1961dup	XM_017012804.2:c.1275-1962_1275-1961dup	XM_017012804.2:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X14	XM_017012805.2:c.1275-1979=	XM_017012805.2:c.1275-1964_1275-1961del	XM_017012805.2:c.1275-1963_1275-1961del	XM_017012805.2:c.1275-1962_1275-1961del	XM_017012805.2:c.1275-1961del	XM_017012805.2:c.1275-1961dup	XM_017012805.2:c.1275-1962_1275-1961dup	XM_017012805.2:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X1	XM_047421056.1:c.1371-1979=	XM_047421056.1:c.1371-1964_1371-1961del	XM_047421056.1:c.1371-1963_1371-1961del	XM_047421056.1:c.1371-1962_1371-1961del	XM_047421056.1:c.1371-1961del	XM_047421056.1:c.1371-1961dup	XM_047421056.1:c.1371-1962_1371-1961dup	XM_047421056.1:c.1371-1963_1371-1961dup
GTF2IRD1 transcript variant X2	XM_047421057.1:c.1371-1979=	XM_047421057.1:c.1371-1964_1371-1961del	XM_047421057.1:c.1371-1963_1371-1961del	XM_047421057.1:c.1371-1962_1371-1961del	XM_047421057.1:c.1371-1961del	XM_047421057.1:c.1371-1961dup	XM_047421057.1:c.1371-1962_1371-1961dup	XM_047421057.1:c.1371-1963_1371-1961dup
GTF2IRD1 transcript variant X3	XM_047421058.1:c.1371-1979=	XM_047421058.1:c.1371-1964_1371-1961del	XM_047421058.1:c.1371-1963_1371-1961del	XM_047421058.1:c.1371-1962_1371-1961del	XM_047421058.1:c.1371-1961del	XM_047421058.1:c.1371-1961dup	XM_047421058.1:c.1371-1962_1371-1961dup	XM_047421058.1:c.1371-1963_1371-1961dup
GTF2IRD1 transcript variant X4	XM_047421059.1:c.1371-1979=	XM_047421059.1:c.1371-1964_1371-1961del	XM_047421059.1:c.1371-1963_1371-1961del	XM_047421059.1:c.1371-1962_1371-1961del	XM_047421059.1:c.1371-1961del	XM_047421059.1:c.1371-1961dup	XM_047421059.1:c.1371-1962_1371-1961dup	XM_047421059.1:c.1371-1963_1371-1961dup
GTF2IRD1 transcript variant X6	XM_047421060.1:c.1275-1979=	XM_047421060.1:c.1275-1964_1275-1961del	XM_047421060.1:c.1275-1963_1275-1961del	XM_047421060.1:c.1275-1962_1275-1961del	XM_047421060.1:c.1275-1961del	XM_047421060.1:c.1275-1961dup	XM_047421060.1:c.1275-1962_1275-1961dup	XM_047421060.1:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X7	XM_047421061.1:c.1371-1979=	XM_047421061.1:c.1371-1964_1371-1961del	XM_047421061.1:c.1371-1963_1371-1961del	XM_047421061.1:c.1371-1962_1371-1961del	XM_047421061.1:c.1371-1961del	XM_047421061.1:c.1371-1961dup	XM_047421061.1:c.1371-1962_1371-1961dup	XM_047421061.1:c.1371-1963_1371-1961dup
GTF2IRD1 transcript variant X9	XM_047421062.1:c.1275-1979=	XM_047421062.1:c.1275-1964_1275-1961del	XM_047421062.1:c.1275-1963_1275-1961del	XM_047421062.1:c.1275-1962_1275-1961del	XM_047421062.1:c.1275-1961del	XM_047421062.1:c.1275-1961dup	XM_047421062.1:c.1275-1962_1275-1961dup	XM_047421062.1:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X10	XM_047421063.1:c.1275-1979=	XM_047421063.1:c.1275-1964_1275-1961del	XM_047421063.1:c.1275-1963_1275-1961del	XM_047421063.1:c.1275-1962_1275-1961del	XM_047421063.1:c.1275-1961del	XM_047421063.1:c.1275-1961dup	XM_047421063.1:c.1275-1962_1275-1961dup	XM_047421063.1:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X11	XM_047421064.1:c.1371-1979=	XM_047421064.1:c.1371-1964_1371-1961del	XM_047421064.1:c.1371-1963_1371-1961del	XM_047421064.1:c.1371-1962_1371-1961del	XM_047421064.1:c.1371-1961del	XM_047421064.1:c.1371-1961dup	XM_047421064.1:c.1371-1962_1371-1961dup	XM_047421064.1:c.1371-1963_1371-1961dup
GTF2IRD1 transcript variant X13	XM_047421065.1:c.1275-1979=	XM_047421065.1:c.1275-1964_1275-1961del	XM_047421065.1:c.1275-1963_1275-1961del	XM_047421065.1:c.1275-1962_1275-1961del	XM_047421065.1:c.1275-1961del	XM_047421065.1:c.1275-1961dup	XM_047421065.1:c.1275-1962_1275-1961dup	XM_047421065.1:c.1275-1963_1275-1961dup
GTF2IRD1 transcript variant X15	XM_047421066.1:c.1275-1979=	XM_047421066.1:c.1275-1964_1275-1961del	XM_047421066.1:c.1275-1963_1275-1961del	XM_047421066.1:c.1275-1962_1275-1961del	XM_047421066.1:c.1275-1961del	XM_047421066.1:c.1275-1961dup	XM_047421066.1:c.1275-1962_1275-1961dup	XM_047421066.1:c.1275-1963_1275-1961dup

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#.

25 SubSNP, 10 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81781551	Dec 14, 2007 (129)
2	HGSV	ss81788161	Dec 14, 2007 (129)
3	HGSV	ss81867244	Dec 14, 2007 (129)
4	TMC_SNPDB	ss1997201121	Sep 28, 2016 (149)
5	TMC_SNPDB	ss1997201123	Sep 28, 2016 (149)
6	MCHAISSO	ss3066150939	Nov 08, 2017 (151)
7	EVA	ss3830642450	Apr 26, 2020 (154)
8	GNOMAD	ss4166210357	Apr 26, 2021 (155)
9	GNOMAD	ss4166210358	Apr 26, 2021 (155)
10	GNOMAD	ss4166210359	Apr 26, 2021 (155)
11	GNOMAD	ss4166210361	Apr 26, 2021 (155)
12	GNOMAD	ss4166210362	Apr 26, 2021 (155)
13	TOMMO_GENOMICS	ss5183863304	Apr 26, 2021 (155)
14	TOMMO_GENOMICS	ss5183863305	Apr 26, 2021 (155)
15	1000G_HIGH_COVERAGE	ss5273430457	Oct 16, 2022 (156)
16	1000G_HIGH_COVERAGE	ss5273430458	Oct 16, 2022 (156)
17	1000G_HIGH_COVERAGE	ss5273430459	Oct 16, 2022 (156)
18	HUGCELL_USP	ss5470475172	Oct 16, 2022 (156)
19	HUGCELL_USP	ss5470475173	Oct 16, 2022 (156)
20	HUGCELL_USP	ss5470475174	Oct 16, 2022 (156)
21	HUGCELL_USP	ss5470475176	Oct 16, 2022 (156)
22	TOMMO_GENOMICS	ss5724337618	Oct 16, 2022 (156)
23	TOMMO_GENOMICS	ss5724337619	Oct 16, 2022 (156)
24	EVA	ss5800139635	Oct 16, 2022 (156)
25	TMC_SNPDB2	ss5846974589	Oct 16, 2022 (156)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 265586896 (NC_000007.14:74533133::T 4336/102554) Row 265586897 (NC_000007.14:74533133::TT 21/102568) Row 265586898 (NC_000007.14:74533133::TTT 1/102578)...	-	Apr 26, 2021 (155)
27	gnomAD - Genomes Submission ignored due to conflicting rows: Row 265586896 (NC_000007.14:74533133::T 4336/102554) Row 265586897 (NC_000007.14:74533133::TT 21/102568) Row 265586898 (NC_000007.14:74533133::TTT 1/102578)...	-	Apr 26, 2021 (155)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 265586896 (NC_000007.14:74533133::T 4336/102554) Row 265586897 (NC_000007.14:74533133::TT 21/102568) Row 265586898 (NC_000007.14:74533133::TTT 1/102578)...	-	Apr 26, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 265586896 (NC_000007.14:74533133::T 4336/102554) Row 265586897 (NC_000007.14:74533133::TT 21/102568) Row 265586898 (NC_000007.14:74533133::TTT 1/102578)...	-	Apr 26, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 265586896 (NC_000007.14:74533133::T 4336/102554) Row 265586897 (NC_000007.14:74533133::TT 21/102568) Row 265586898 (NC_000007.14:74533133::TTT 1/102578)...	-	Apr 26, 2021 (155)
31	8.3KJPN Submission ignored due to conflicting rows: Row 41832611 (NC_000007.13:73947463:T: 816/16742) Row 41832612 (NC_000007.13:73947463::T 428/16742)	-	Apr 26, 2021 (155)
32	8.3KJPN Submission ignored due to conflicting rows: Row 41832611 (NC_000007.13:73947463:T: 816/16742) Row 41832612 (NC_000007.13:73947463::T 428/16742)	-	Apr 26, 2021 (155)
33	14KJPN Submission ignored due to conflicting rows: Row 58174722 (NC_000007.14:74533133:T: 1403/28146) Row 58174723 (NC_000007.14:74533133::T 711/28146)	-	Oct 16, 2022 (156)
34	14KJPN Submission ignored due to conflicting rows: Row 58174722 (NC_000007.14:74533133:T: 1403/28146) Row 58174723 (NC_000007.14:74533133::T 711/28146)	-	Oct 16, 2022 (156)
35	ALFA	NC_000007.14 - 74533134	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)
rs67108382	May 11, 2012 (137)
rs67108383	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
13257283678	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5846974589	NC_000007.14:74533133:TTT:	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
ss1997201121	NC_000007.13:73947463:TT:	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4166210362, ss5273430459, ss5470475173	NC_000007.14:74533133:TT:	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
13257283678	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss1997201123, ss3830642450, ss5183863304, ss5800139635	NC_000007.13:73947463:T:	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3066150939, ss4166210361, ss5273430458, ss5470475172, ss5724337618	NC_000007.14:74533133:T:	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
13257283678	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5183863305	NC_000007.13:73947463::T	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4166210357, ss5273430457, ss5470475174, ss5724337619	NC_000007.14:74533133::T	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
13257283678	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss81781551, ss81788161, ss81867244	NT_007933.15:11980325::T	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4166210358, ss5470475176	NC_000007.14:74533133::TT	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
13257283678	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4166210359	NC_000007.14:74533133::TTT	NC_000007.14:74533133:TTTTTTTTTTTT… NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(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 rs56894912

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs56894912