Name: rs70976272
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.

rs70976272

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:37041871-37041884 (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)₄ / delTTT / delTT…
del(T)₇ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₅
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₇=0.000030 (8/264690, TOPMED)
dupT=0.04543 (556/12238, ALFA)
delT=0.1666 (669/4015, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NIPBL : 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	12238	TTTTTTTTTTTTTT=0.91608	TTTTTTT=0.00000, TTTTTTTTTT=0.00008, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.03808, TTTTTTTTTTTTTTT=0.04543, TTTTTTTTTTTTTTTT=0.00033, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000	0.922263	0.008637	0.069099	32
European	Sub	10862	TTTTTTTTTTTTTT=0.90545	TTTTTTT=0.00000, TTTTTTTTTT=0.00009, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.04290, TTTTTTTTTTTTTTT=0.05119, TTTTTTTTTTTTTTTT=0.00037, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000	0.911535	0.009829	0.078636	32
African	Sub	774	TTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	24	TTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	750	TTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	68	TTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	54	TTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	TTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	66	TTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	158	TTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	62	TTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	248	TTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(T)₁₄=0.999970	del(T)₇=0.000030
Allele Frequency Aggregator	Total	Global	12238	(T)₁₄=0.91608	del(T)₇=0.00000, del(T)₄=0.00008, delTTT=0.00000, delTT=0.00000, delT=0.03808, dupT=0.04543, dupTT=0.00033, dupTTT=0.00000, dup(T)₅=0.00000
Allele Frequency Aggregator	European	Sub	10862	(T)₁₄=0.90545	del(T)₇=0.00000, del(T)₄=0.00009, delTTT=0.00000, delTT=0.00000, delT=0.04290, dupT=0.05119, dupTT=0.00037, dupTTT=0.00000, dup(T)₅=0.00000
Allele Frequency Aggregator	African	Sub	774	(T)₁₄=1.000	del(T)₇=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Other	Sub	248	(T)₁₄=1.000	del(T)₇=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	158	(T)₁₄=1.000	del(T)₇=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Asian	Sub	68	(T)₁₄=1.00	del(T)₇=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)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	66	(T)₁₄=1.00	del(T)₇=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)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	62	(T)₁₄=1.00	del(T)₇=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)₅=0.00
1000Genomes	Global	Study-wide	4015	(T)₁₄=0.8334	delT=0.1666
1000Genomes	East Asian	Sub	946	(T)₁₄=0.852	delT=0.148
1000Genomes	Europe	Sub	883	(T)₁₄=0.886	delT=0.114
1000Genomes	South Asian	Sub	870	(T)₁₄=0.852	delT=0.148
1000Genomes	African	Sub	816	(T)₁₄=0.801	delT=0.199
1000Genomes	American	Sub	500	(T)₁₄=0.726	delT=0.274

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 5	NC_000005.10:g.37041878_37041884del
GRCh38.p14 chr 5	NC_000005.10:g.37041881_37041884del
GRCh38.p14 chr 5	NC_000005.10:g.37041882_37041884del
GRCh38.p14 chr 5	NC_000005.10:g.37041883_37041884del
GRCh38.p14 chr 5	NC_000005.10:g.37041884del
GRCh38.p14 chr 5	NC_000005.10:g.37041884dup
GRCh38.p14 chr 5	NC_000005.10:g.37041883_37041884dup
GRCh38.p14 chr 5	NC_000005.10:g.37041882_37041884dup
GRCh38.p14 chr 5	NC_000005.10:g.37041880_37041884dup
GRCh37.p13 chr 5	NC_000005.9:g.37041980_37041986del
GRCh37.p13 chr 5	NC_000005.9:g.37041983_37041986del
GRCh37.p13 chr 5	NC_000005.9:g.37041984_37041986del
GRCh37.p13 chr 5	NC_000005.9:g.37041985_37041986del
GRCh37.p13 chr 5	NC_000005.9:g.37041986del
GRCh37.p13 chr 5	NC_000005.9:g.37041986dup
GRCh37.p13 chr 5	NC_000005.9:g.37041985_37041986dup
GRCh37.p13 chr 5	NC_000005.9:g.37041984_37041986dup
GRCh37.p13 chr 5	NC_000005.9:g.37041982_37041986dup
NIPBL RefSeqGene	NG_006987.2:g.169996_170002del
NIPBL RefSeqGene	NG_006987.2:g.169999_170002del
NIPBL RefSeqGene	NG_006987.2:g.170000_170002del
NIPBL RefSeqGene	NG_006987.2:g.170001_170002del
NIPBL RefSeqGene	NG_006987.2:g.170002del
NIPBL RefSeqGene	NG_006987.2:g.170002dup
NIPBL RefSeqGene	NG_006987.2:g.170001_170002dup
NIPBL RefSeqGene	NG_006987.2:g.170000_170002dup
NIPBL RefSeqGene	NG_006987.2:g.169998_170002dup

Gene: NIPBL, NIPBL cohesin loading factor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NIPBL transcript variant B	NM_015384.5:c.6109-2469_6… NM_015384.5:c.6109-2469_6109-2463del	N/A	Intron Variant
NIPBL transcript variant A	NM_133433.4:c.6109-2469_6… NM_133433.4:c.6109-2469_6109-2463del	N/A	Intron Variant
NIPBL transcript variant X3	XM_005248280.4:c.6109-246… XM_005248280.4:c.6109-2469_6109-2463del	N/A	Intron Variant
NIPBL transcript variant X5	XM_005248282.6:c.5449-246… XM_005248282.6:c.5449-2469_5449-2463del	N/A	Intron Variant
NIPBL transcript variant X1	XM_006714467.3:c.6109-246… XM_006714467.3:c.6109-2469_6109-2463del	N/A	Intron Variant
NIPBL transcript variant X2	XM_006714468.3:c.5911-246… XM_006714468.3:c.5911-2469_5911-2463del	N/A	Intron Variant
NIPBL transcript variant X6	XM_011514015.2:c.6109-246… XM_011514015.2:c.6109-2469_6109-2463del	N/A	Intron Variant
NIPBL transcript variant X4	XM_017009329.2:c.6109-246… XM_017009329.2:c.6109-2469_6109-2463del	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)₁₄=	del(T)₇	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₅
GRCh38.p14 chr 5	NC_000005.10:g.37041871_37041884=	NC_000005.10:g.37041878_37041884del	NC_000005.10:g.37041881_37041884del	NC_000005.10:g.37041882_37041884del	NC_000005.10:g.37041883_37041884del	NC_000005.10:g.37041884del	NC_000005.10:g.37041884dup	NC_000005.10:g.37041883_37041884dup	NC_000005.10:g.37041882_37041884dup	NC_000005.10:g.37041880_37041884dup
GRCh37.p13 chr 5	NC_000005.9:g.37041973_37041986=	NC_000005.9:g.37041980_37041986del	NC_000005.9:g.37041983_37041986del	NC_000005.9:g.37041984_37041986del	NC_000005.9:g.37041985_37041986del	NC_000005.9:g.37041986del	NC_000005.9:g.37041986dup	NC_000005.9:g.37041985_37041986dup	NC_000005.9:g.37041984_37041986dup	NC_000005.9:g.37041982_37041986dup
NIPBL RefSeqGene	NG_006987.2:g.169989_170002=	NG_006987.2:g.169996_170002del	NG_006987.2:g.169999_170002del	NG_006987.2:g.170000_170002del	NG_006987.2:g.170001_170002del	NG_006987.2:g.170002del	NG_006987.2:g.170002dup	NG_006987.2:g.170001_170002dup	NG_006987.2:g.170000_170002dup	NG_006987.2:g.169998_170002dup
NIPBL transcript variant B	NM_015384.4:c.6109-2476=	NM_015384.4:c.6109-2469_6109-2463del	NM_015384.4:c.6109-2466_6109-2463del	NM_015384.4:c.6109-2465_6109-2463del	NM_015384.4:c.6109-2464_6109-2463del	NM_015384.4:c.6109-2463del	NM_015384.4:c.6109-2463dup	NM_015384.4:c.6109-2464_6109-2463dup	NM_015384.4:c.6109-2465_6109-2463dup	NM_015384.4:c.6109-2467_6109-2463dup
NIPBL transcript variant B	NM_015384.5:c.6109-2476=	NM_015384.5:c.6109-2469_6109-2463del	NM_015384.5:c.6109-2466_6109-2463del	NM_015384.5:c.6109-2465_6109-2463del	NM_015384.5:c.6109-2464_6109-2463del	NM_015384.5:c.6109-2463del	NM_015384.5:c.6109-2463dup	NM_015384.5:c.6109-2464_6109-2463dup	NM_015384.5:c.6109-2465_6109-2463dup	NM_015384.5:c.6109-2467_6109-2463dup
NIPBL transcript variant A	NM_133433.3:c.6109-2476=	NM_133433.3:c.6109-2469_6109-2463del	NM_133433.3:c.6109-2466_6109-2463del	NM_133433.3:c.6109-2465_6109-2463del	NM_133433.3:c.6109-2464_6109-2463del	NM_133433.3:c.6109-2463del	NM_133433.3:c.6109-2463dup	NM_133433.3:c.6109-2464_6109-2463dup	NM_133433.3:c.6109-2465_6109-2463dup	NM_133433.3:c.6109-2467_6109-2463dup
NIPBL transcript variant A	NM_133433.4:c.6109-2476=	NM_133433.4:c.6109-2469_6109-2463del	NM_133433.4:c.6109-2466_6109-2463del	NM_133433.4:c.6109-2465_6109-2463del	NM_133433.4:c.6109-2464_6109-2463del	NM_133433.4:c.6109-2463del	NM_133433.4:c.6109-2463dup	NM_133433.4:c.6109-2464_6109-2463dup	NM_133433.4:c.6109-2465_6109-2463dup	NM_133433.4:c.6109-2467_6109-2463dup
NIPBL transcript variant X1	XM_005248280.1:c.6109-2476=	XM_005248280.1:c.6109-2469_6109-2463del	XM_005248280.1:c.6109-2466_6109-2463del	XM_005248280.1:c.6109-2465_6109-2463del	XM_005248280.1:c.6109-2464_6109-2463del	XM_005248280.1:c.6109-2463del	XM_005248280.1:c.6109-2463dup	XM_005248280.1:c.6109-2464_6109-2463dup	XM_005248280.1:c.6109-2465_6109-2463dup	XM_005248280.1:c.6109-2467_6109-2463dup
NIPBL transcript variant X3	XM_005248280.4:c.6109-2476=	XM_005248280.4:c.6109-2469_6109-2463del	XM_005248280.4:c.6109-2466_6109-2463del	XM_005248280.4:c.6109-2465_6109-2463del	XM_005248280.4:c.6109-2464_6109-2463del	XM_005248280.4:c.6109-2463del	XM_005248280.4:c.6109-2463dup	XM_005248280.4:c.6109-2464_6109-2463dup	XM_005248280.4:c.6109-2465_6109-2463dup	XM_005248280.4:c.6109-2467_6109-2463dup
NIPBL transcript variant X2	XM_005248281.1:c.5749-2476=	XM_005248281.1:c.5749-2469_5749-2463del	XM_005248281.1:c.5749-2466_5749-2463del	XM_005248281.1:c.5749-2465_5749-2463del	XM_005248281.1:c.5749-2464_5749-2463del	XM_005248281.1:c.5749-2463del	XM_005248281.1:c.5749-2463dup	XM_005248281.1:c.5749-2464_5749-2463dup	XM_005248281.1:c.5749-2465_5749-2463dup	XM_005248281.1:c.5749-2467_5749-2463dup
NIPBL transcript variant X3	XM_005248282.1:c.5449-2476=	XM_005248282.1:c.5449-2469_5449-2463del	XM_005248282.1:c.5449-2466_5449-2463del	XM_005248282.1:c.5449-2465_5449-2463del	XM_005248282.1:c.5449-2464_5449-2463del	XM_005248282.1:c.5449-2463del	XM_005248282.1:c.5449-2463dup	XM_005248282.1:c.5449-2464_5449-2463dup	XM_005248282.1:c.5449-2465_5449-2463dup	XM_005248282.1:c.5449-2467_5449-2463dup
NIPBL transcript variant X5	XM_005248282.6:c.5449-2476=	XM_005248282.6:c.5449-2469_5449-2463del	XM_005248282.6:c.5449-2466_5449-2463del	XM_005248282.6:c.5449-2465_5449-2463del	XM_005248282.6:c.5449-2464_5449-2463del	XM_005248282.6:c.5449-2463del	XM_005248282.6:c.5449-2463dup	XM_005248282.6:c.5449-2464_5449-2463dup	XM_005248282.6:c.5449-2465_5449-2463dup	XM_005248282.6:c.5449-2467_5449-2463dup
NIPBL transcript variant X4	XM_005248283.1:c.4492-2476=	XM_005248283.1:c.4492-2469_4492-2463del	XM_005248283.1:c.4492-2466_4492-2463del	XM_005248283.1:c.4492-2465_4492-2463del	XM_005248283.1:c.4492-2464_4492-2463del	XM_005248283.1:c.4492-2463del	XM_005248283.1:c.4492-2463dup	XM_005248283.1:c.4492-2464_4492-2463dup	XM_005248283.1:c.4492-2465_4492-2463dup	XM_005248283.1:c.4492-2467_4492-2463dup
NIPBL transcript variant X1	XM_006714467.3:c.6109-2476=	XM_006714467.3:c.6109-2469_6109-2463del	XM_006714467.3:c.6109-2466_6109-2463del	XM_006714467.3:c.6109-2465_6109-2463del	XM_006714467.3:c.6109-2464_6109-2463del	XM_006714467.3:c.6109-2463del	XM_006714467.3:c.6109-2463dup	XM_006714467.3:c.6109-2464_6109-2463dup	XM_006714467.3:c.6109-2465_6109-2463dup	XM_006714467.3:c.6109-2467_6109-2463dup
NIPBL transcript variant X2	XM_006714468.3:c.5911-2476=	XM_006714468.3:c.5911-2469_5911-2463del	XM_006714468.3:c.5911-2466_5911-2463del	XM_006714468.3:c.5911-2465_5911-2463del	XM_006714468.3:c.5911-2464_5911-2463del	XM_006714468.3:c.5911-2463del	XM_006714468.3:c.5911-2463dup	XM_006714468.3:c.5911-2464_5911-2463dup	XM_006714468.3:c.5911-2465_5911-2463dup	XM_006714468.3:c.5911-2467_5911-2463dup
NIPBL transcript variant X6	XM_011514015.2:c.6109-2476=	XM_011514015.2:c.6109-2469_6109-2463del	XM_011514015.2:c.6109-2466_6109-2463del	XM_011514015.2:c.6109-2465_6109-2463del	XM_011514015.2:c.6109-2464_6109-2463del	XM_011514015.2:c.6109-2463del	XM_011514015.2:c.6109-2463dup	XM_011514015.2:c.6109-2464_6109-2463dup	XM_011514015.2:c.6109-2465_6109-2463dup	XM_011514015.2:c.6109-2467_6109-2463dup
NIPBL transcript variant X4	XM_017009329.2:c.6109-2476=	XM_017009329.2:c.6109-2469_6109-2463del	XM_017009329.2:c.6109-2466_6109-2463del	XM_017009329.2:c.6109-2465_6109-2463del	XM_017009329.2:c.6109-2464_6109-2463del	XM_017009329.2:c.6109-2463del	XM_017009329.2:c.6109-2463dup	XM_017009329.2:c.6109-2464_6109-2463dup	XM_017009329.2:c.6109-2465_6109-2463dup	XM_017009329.2:c.6109-2467_6109-2463dup

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#.

45 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95391938	Feb 13, 2009 (130)
2	SSMP	ss663601228	Apr 01, 2015 (144)
3	1000GENOMES	ss1373674458	Aug 21, 2014 (142)
4	1000GENOMES	ss1373674460	Oct 12, 2018 (152)
5	SWEGEN	ss2996749428	Nov 08, 2017 (151)
6	MCHAISSO	ss3065025315	Nov 08, 2017 (151)
7	MCHAISSO	ss3066012962	Nov 08, 2017 (151)
8	URBANLAB	ss3648034276	Oct 12, 2018 (152)
9	EVA_DECODE	ss3714481388	Jul 13, 2019 (153)
10	EVA_DECODE	ss3714481389	Jul 13, 2019 (153)
11	EVA_DECODE	ss3714481390	Jul 13, 2019 (153)
12	ACPOP	ss3732263343	Jul 13, 2019 (153)
13	ACPOP	ss3732263344	Jul 13, 2019 (153)
14	KHV_HUMAN_GENOMES	ss3806478059	Jul 13, 2019 (153)
15	KHV_HUMAN_GENOMES	ss3806478060	Jul 13, 2019 (153)
16	EVA	ss3829196366	Apr 26, 2020 (154)
17	EVA	ss3838067636	Apr 26, 2020 (154)
18	EVA	ss3843506923	Apr 26, 2020 (154)
19	KOGIC	ss3956442382	Apr 26, 2020 (154)
20	KOGIC	ss3956442383	Apr 26, 2020 (154)
21	KOGIC	ss3956442384	Apr 26, 2020 (154)
22	GNOMAD	ss4102587555	Apr 26, 2021 (155)
23	GNOMAD	ss4102587556	Apr 26, 2021 (155)
24	GNOMAD	ss4102587557	Apr 26, 2021 (155)
25	GNOMAD	ss4102587558	Apr 26, 2021 (155)
26	GNOMAD	ss4102587559	Apr 26, 2021 (155)
27	GNOMAD	ss4102587560	Apr 26, 2021 (155)
28	GNOMAD	ss4102587561	Apr 26, 2021 (155)
29	GNOMAD	ss4102587562	Apr 26, 2021 (155)
30	GNOMAD	ss4102587563	Apr 26, 2021 (155)
31	TOPMED	ss4656162528	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5171246076	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5171246077	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5171246078	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5171246079	Apr 26, 2021 (155)
36	1000G_HIGH_COVERAGE	ss5263560644	Oct 17, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5263560645	Oct 17, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5263560646	Oct 17, 2022 (156)
39	HUGCELL_USP	ss5461827997	Oct 17, 2022 (156)
40	HUGCELL_USP	ss5461827998	Oct 17, 2022 (156)
41	TOMMO_GENOMICS	ss5707155523	Oct 17, 2022 (156)
42	TOMMO_GENOMICS	ss5707155524	Oct 17, 2022 (156)
43	TOMMO_GENOMICS	ss5707155525	Oct 17, 2022 (156)
44	TOMMO_GENOMICS	ss5707155526	Oct 17, 2022 (156)
45	EVA	ss5854770702	Oct 17, 2022 (156)
46	1000Genomes	NC_000005.9 - 37041973	Oct 12, 2018 (152)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185462804 (NC_000005.10:37041870::T 29817/133798) Row 185462805 (NC_000005.10:37041870::TT 77/133922) Row 185462806 (NC_000005.10:37041870::TTT 1/133932)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185462804 (NC_000005.10:37041870::T 29817/133798) Row 185462805 (NC_000005.10:37041870::TT 77/133922) Row 185462806 (NC_000005.10:37041870::TTT 1/133932)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185462804 (NC_000005.10:37041870::T 29817/133798) Row 185462805 (NC_000005.10:37041870::TT 77/133922) Row 185462806 (NC_000005.10:37041870::TTT 1/133932)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185462804 (NC_000005.10:37041870::T 29817/133798) Row 185462805 (NC_000005.10:37041870::TT 77/133922) Row 185462806 (NC_000005.10:37041870::TTT 1/133932)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185462804 (NC_000005.10:37041870::T 29817/133798) Row 185462805 (NC_000005.10:37041870::TT 77/133922) Row 185462806 (NC_000005.10:37041870::TTT 1/133932)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185462804 (NC_000005.10:37041870::T 29817/133798) Row 185462805 (NC_000005.10:37041870::TT 77/133922) Row 185462806 (NC_000005.10:37041870::TTT 1/133932)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185462804 (NC_000005.10:37041870::T 29817/133798) Row 185462805 (NC_000005.10:37041870::TT 77/133922) Row 185462806 (NC_000005.10:37041870::TTT 1/133932)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185462804 (NC_000005.10:37041870::T 29817/133798) Row 185462805 (NC_000005.10:37041870::TT 77/133922) Row 185462806 (NC_000005.10:37041870::TTT 1/133932)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185462804 (NC_000005.10:37041870::T 29817/133798) Row 185462805 (NC_000005.10:37041870::TT 77/133922) Row 185462806 (NC_000005.10:37041870::TTT 1/133932)...	-	Apr 26, 2021 (155)
56	Korean Genome Project Submission ignored due to conflicting rows: Row 12820383 (NC_000005.10:37041870:T: 224/1832) Row 12820384 (NC_000005.10:37041871::T 156/1832) Row 12820385 (NC_000005.10:37041871::TT 4/1832)	-	Apr 26, 2020 (154)
57	Korean Genome Project Submission ignored due to conflicting rows: Row 12820383 (NC_000005.10:37041870:T: 224/1832) Row 12820384 (NC_000005.10:37041871::T 156/1832) Row 12820385 (NC_000005.10:37041871::TT 4/1832)	-	Apr 26, 2020 (154)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 12820383 (NC_000005.10:37041870:T: 224/1832) Row 12820384 (NC_000005.10:37041871::T 156/1832) Row 12820385 (NC_000005.10:37041871::TT 4/1832)	-	Apr 26, 2020 (154)
59	Northern Sweden Submission ignored due to conflicting rows: Row 5548208 (NC_000005.9:37041972::T 60/600) Row 5548209 (NC_000005.9:37041972:T: 44/600)	-	Jul 13, 2019 (153)
60	Northern Sweden Submission ignored due to conflicting rows: Row 5548208 (NC_000005.9:37041972::T 60/600) Row 5548209 (NC_000005.9:37041972:T: 44/600)	-	Jul 13, 2019 (153)
61	8.3KJPN Submission ignored due to conflicting rows: Row 29215383 (NC_000005.9:37041972::T 1799/16756) Row 29215384 (NC_000005.9:37041972:T: 1269/16756) Row 29215385 (NC_000005.9:37041972:TT: 2/16756)...	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 29215383 (NC_000005.9:37041972::T 1799/16756) Row 29215384 (NC_000005.9:37041972:T: 1269/16756) Row 29215385 (NC_000005.9:37041972:TT: 2/16756)...	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 29215383 (NC_000005.9:37041972::T 1799/16756) Row 29215384 (NC_000005.9:37041972:T: 1269/16756) Row 29215385 (NC_000005.9:37041972:TT: 2/16756)...	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 29215383 (NC_000005.9:37041972::T 1799/16756) Row 29215384 (NC_000005.9:37041972:T: 1269/16756) Row 29215385 (NC_000005.9:37041972:TT: 2/16756)...	-	Apr 26, 2021 (155)
65	14KJPN Submission ignored due to conflicting rows: Row 40992627 (NC_000005.10:37041870::T 2976/28258) Row 40992628 (NC_000005.10:37041870:T: 2125/28258) Row 40992629 (NC_000005.10:37041870:TT: 1/28258)...	-	Oct 17, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 40992627 (NC_000005.10:37041870::T 2976/28258) Row 40992628 (NC_000005.10:37041870:T: 2125/28258) Row 40992629 (NC_000005.10:37041870:TT: 1/28258)...	-	Oct 17, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 40992627 (NC_000005.10:37041870::T 2976/28258) Row 40992628 (NC_000005.10:37041870:T: 2125/28258) Row 40992629 (NC_000005.10:37041870:TT: 1/28258)...	-	Oct 17, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 40992627 (NC_000005.10:37041870::T 2976/28258) Row 40992628 (NC_000005.10:37041870:T: 2125/28258) Row 40992629 (NC_000005.10:37041870:TT: 1/28258)...	-	Oct 17, 2022 (156)
69	TopMed	NC_000005.10 - 37041871	Apr 26, 2021 (155)
70	ALFA	NC_000005.10 - 37041871	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
493540085, ss4102587563, ss4656162528	NC_000005.10:37041870:TTTTTTT:	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTT	(self)
6913422891	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTT	(self)
ss4102587562	NC_000005.10:37041870:TTTT:	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTT	(self)
6913422891	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4102587561	NC_000005.10:37041870:TTT:	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
6913422891	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss5171246078	NC_000005.9:37041972:TT:	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3714481388, ss4102587560, ss5707155525	NC_000005.10:37041870:TT:	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
6913422891	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
26252915, ss663601228, ss1373674458, ss2996749428, ss3732263344, ss5171246077	NC_000005.9:37041972:T:	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3806478059, ss3956442382, ss4102587559, ss5263560646, ss5461827997, ss5707155524, ss5854770702	NC_000005.10:37041870:T:	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
6913422891	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3714481389	NC_000005.10:37041871:T:	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3732263343, ss3829196366, ss3838067636, ss5171246076	NC_000005.9:37041972::T	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss1373674460	NC_000005.9:37041973::T	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3065025315, ss3066012962, ss3648034276, ss3843506923, ss4102587555, ss5263560644, ss5461827998, ss5707155523	NC_000005.10:37041870::T	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
6913422891	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3806478060, ss3956442383	NC_000005.10:37041871::T	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3714481390	NC_000005.10:37041872::T	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss95391938	NT_006576.16:37031986::T	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5171246079	NC_000005.9:37041972::TT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4102587556, ss5263560645, ss5707155526	NC_000005.10:37041870::TT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
6913422891	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3956442384	NC_000005.10:37041871::TT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4102587557	NC_000005.10:37041870::TTT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
6913422891	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4102587558	NC_000005.10:37041870::TTTTT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
6913422891	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000005.10:37041870:TTTTTTTTTTTT… NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(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 rs70976272

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs70976272