Name: rs11291612
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.

rs11291612

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:37030920-37030943 (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)₁₅ / del(T)₁₄ / del(T)₁₃ / d…
del(T)₁₅ / del(T)₁₄ / del(T)₁₃ / del(T)₁₂ / del(T)₁₁ / del(T)₁₀ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / insA(T)₃₆ / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / ins(T)₂₄C(T)₂₅
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₄=0.000004 (1/264690, TOPMED)
delTT=0.0441 (406/9216, ALFA)

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	9216	TTTTTTTTTTTTTTTTTTTTTTTT=0.8767	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTTTTT=0.0441, TTTTTTTTTTTTTTTTTTTTTTT=0.0411, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0319, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0047, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0012	0.926223	0.00803	0.065747	32
European	Sub	7918	TTTTTTTTTTTTTTTTTTTTTTTT=0.8565	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0004, TTTTTTTTTTTTTTTTTTTTTT=0.0513, TTTTTTTTTTTTTTTTTTTTTTT=0.0479, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0371, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0054, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0014	0.911871	0.009592	0.078537	32
African	Sub	806	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	26	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	780	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	36	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	26	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	10	TTTTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	44	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	190	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	38	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	184	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=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)₂₄=0.999996	del(T)₁₄=0.000004
Allele Frequency Aggregator	Total	Global	9216	(T)₂₄=0.8767	del(T)₁₅=0.0000, del(T)₁₄=0.0000, del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0003, delTT=0.0441, delT=0.0411, dupT=0.0319, dupTT=0.0047, dupTTT=0.0012
Allele Frequency Aggregator	European	Sub	7918	(T)₂₄=0.8565	del(T)₁₅=0.0000, del(T)₁₄=0.0000, del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0004, delTT=0.0513, delT=0.0479, dupT=0.0371, dupTT=0.0054, dupTTT=0.0014
Allele Frequency Aggregator	African	Sub	806	(T)₂₄=1.000	del(T)₁₅=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=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
Allele Frequency Aggregator	Latin American 2	Sub	190	(T)₂₄=1.000	del(T)₁₅=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=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
Allele Frequency Aggregator	Other	Sub	184	(T)₂₄=1.000	del(T)₁₅=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=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
Allele Frequency Aggregator	Latin American 1	Sub	44	(T)₂₄=1.00	del(T)₁₅=0.00, del(T)₁₄=0.00, del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	38	(T)₂₄=1.00	del(T)₁₅=0.00, del(T)₁₄=0.00, del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Asian	Sub	36	(T)₂₄=1.00	del(T)₁₅=0.00, del(T)₁₄=0.00, del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00

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.37030929_37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030930_37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030931_37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030932_37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030933_37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030934_37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030937_37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030938_37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030939_37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030940_37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030941_37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030942_37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030943del
GRCh38.p14 chr 5	NC_000005.10:g.37030920_37030943T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 5	NC_000005.10:g.37030943dup
GRCh38.p14 chr 5	NC_000005.10:g.37030942_37030943dup
GRCh38.p14 chr 5	NC_000005.10:g.37030941_37030943dup
GRCh38.p14 chr 5	NC_000005.10:g.37030940_37030943dup
GRCh38.p14 chr 5	NC_000005.10:g.37030939_37030943dup
GRCh38.p14 chr 5	NC_000005.10:g.37030938_37030943dup
GRCh38.p14 chr 5	NC_000005.10:g.37030937_37030943dup
GRCh38.p14 chr 5	NC_000005.10:g.37030920_37030943T[48]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 5	NC_000005.9:g.37031031_37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031032_37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031033_37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031034_37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031035_37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031036_37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031039_37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031040_37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031041_37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031042_37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031043_37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031044_37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031045del
GRCh37.p13 chr 5	NC_000005.9:g.37031022_37031045T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 5	NC_000005.9:g.37031045dup
GRCh37.p13 chr 5	NC_000005.9:g.37031044_37031045dup
GRCh37.p13 chr 5	NC_000005.9:g.37031043_37031045dup
GRCh37.p13 chr 5	NC_000005.9:g.37031042_37031045dup
GRCh37.p13 chr 5	NC_000005.9:g.37031041_37031045dup
GRCh37.p13 chr 5	NC_000005.9:g.37031040_37031045dup
GRCh37.p13 chr 5	NC_000005.9:g.37031039_37031045dup
GRCh37.p13 chr 5	NC_000005.9:g.37031022_37031045T[48]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]
NIPBL RefSeqGene	NG_006987.2:g.159047_159061del
NIPBL RefSeqGene	NG_006987.2:g.159048_159061del
NIPBL RefSeqGene	NG_006987.2:g.159049_159061del
NIPBL RefSeqGene	NG_006987.2:g.159050_159061del
NIPBL RefSeqGene	NG_006987.2:g.159051_159061del
NIPBL RefSeqGene	NG_006987.2:g.159052_159061del
NIPBL RefSeqGene	NG_006987.2:g.159055_159061del
NIPBL RefSeqGene	NG_006987.2:g.159056_159061del
NIPBL RefSeqGene	NG_006987.2:g.159057_159061del
NIPBL RefSeqGene	NG_006987.2:g.159058_159061del
NIPBL RefSeqGene	NG_006987.2:g.159059_159061del
NIPBL RefSeqGene	NG_006987.2:g.159060_159061del
NIPBL RefSeqGene	NG_006987.2:g.159061del
NIPBL RefSeqGene	NG_006987.2:g.159038_159061T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
NIPBL RefSeqGene	NG_006987.2:g.159061dup
NIPBL RefSeqGene	NG_006987.2:g.159060_159061dup
NIPBL RefSeqGene	NG_006987.2:g.159059_159061dup
NIPBL RefSeqGene	NG_006987.2:g.159058_159061dup
NIPBL RefSeqGene	NG_006987.2:g.159057_159061dup
NIPBL RefSeqGene	NG_006987.2:g.159056_159061dup
NIPBL RefSeqGene	NG_006987.2:g.159055_159061dup
NIPBL RefSeqGene	NG_006987.2:g.159038_159061T[48]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]

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

Molecule type	Change	Amino acid[Codon]	SO Term
NIPBL transcript variant B	NM_015384.5:c.5862+3517_5… NM_015384.5:c.5862+3517_5862+3531del	N/A	Intron Variant
NIPBL transcript variant A	NM_133433.4:c.5862+3517_5… NM_133433.4:c.5862+3517_5862+3531del	N/A	Intron Variant
NIPBL transcript variant X3	XM_005248280.4:c.5862+351… XM_005248280.4:c.5862+3517_5862+3531del	N/A	Intron Variant
NIPBL transcript variant X5	XM_005248282.6:c.5202+351… XM_005248282.6:c.5202+3517_5202+3531del	N/A	Intron Variant
NIPBL transcript variant X1	XM_006714467.3:c.5862+351… XM_006714467.3:c.5862+3517_5862+3531del	N/A	Intron Variant
NIPBL transcript variant X2	XM_006714468.3:c.5664+351… XM_006714468.3:c.5664+3517_5664+3531del	N/A	Intron Variant
NIPBL transcript variant X6	XM_011514015.2:c.5862+351… XM_011514015.2:c.5862+3517_5862+3531del	N/A	Intron Variant
NIPBL transcript variant X4	XM_017009329.2:c.5862+351… XM_017009329.2:c.5862+3517_5862+3531del	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)₂₄=	del(T)₁₅	del(T)₁₄	del(T)₁₃	del(T)₁₂	del(T)₁₁	del(T)₁₀	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	insA(T)₃₆	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	ins(T)₂₄C(T)₂₅
GRCh38.p14 chr 5	NC_000005.10:g.37030920_37030943=	NC_000005.10:g.37030929_37030943del	NC_000005.10:g.37030930_37030943del	NC_000005.10:g.37030931_37030943del	NC_000005.10:g.37030932_37030943del	NC_000005.10:g.37030933_37030943del	NC_000005.10:g.37030934_37030943del	NC_000005.10:g.37030937_37030943del	NC_000005.10:g.37030938_37030943del	NC_000005.10:g.37030939_37030943del	NC_000005.10:g.37030940_37030943del	NC_000005.10:g.37030941_37030943del	NC_000005.10:g.37030942_37030943del	NC_000005.10:g.37030943del	NC_000005.10:g.37030920_37030943T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000005.10:g.37030943dup	NC_000005.10:g.37030942_37030943dup	NC_000005.10:g.37030941_37030943dup	NC_000005.10:g.37030940_37030943dup	NC_000005.10:g.37030939_37030943dup	NC_000005.10:g.37030938_37030943dup	NC_000005.10:g.37030937_37030943dup	NC_000005.10:g.37030920_37030943T[48]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 5	NC_000005.9:g.37031022_37031045=	NC_000005.9:g.37031031_37031045del	NC_000005.9:g.37031032_37031045del	NC_000005.9:g.37031033_37031045del	NC_000005.9:g.37031034_37031045del	NC_000005.9:g.37031035_37031045del	NC_000005.9:g.37031036_37031045del	NC_000005.9:g.37031039_37031045del	NC_000005.9:g.37031040_37031045del	NC_000005.9:g.37031041_37031045del	NC_000005.9:g.37031042_37031045del	NC_000005.9:g.37031043_37031045del	NC_000005.9:g.37031044_37031045del	NC_000005.9:g.37031045del	NC_000005.9:g.37031022_37031045T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000005.9:g.37031045dup	NC_000005.9:g.37031044_37031045dup	NC_000005.9:g.37031043_37031045dup	NC_000005.9:g.37031042_37031045dup	NC_000005.9:g.37031041_37031045dup	NC_000005.9:g.37031040_37031045dup	NC_000005.9:g.37031039_37031045dup	NC_000005.9:g.37031022_37031045T[48]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]
NIPBL RefSeqGene	NG_006987.2:g.159038_159061=	NG_006987.2:g.159047_159061del	NG_006987.2:g.159048_159061del	NG_006987.2:g.159049_159061del	NG_006987.2:g.159050_159061del	NG_006987.2:g.159051_159061del	NG_006987.2:g.159052_159061del	NG_006987.2:g.159055_159061del	NG_006987.2:g.159056_159061del	NG_006987.2:g.159057_159061del	NG_006987.2:g.159058_159061del	NG_006987.2:g.159059_159061del	NG_006987.2:g.159060_159061del	NG_006987.2:g.159061del	NG_006987.2:g.159038_159061T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]	NG_006987.2:g.159061dup	NG_006987.2:g.159060_159061dup	NG_006987.2:g.159059_159061dup	NG_006987.2:g.159058_159061dup	NG_006987.2:g.159057_159061dup	NG_006987.2:g.159056_159061dup	NG_006987.2:g.159055_159061dup	NG_006987.2:g.159038_159061T[48]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]
NIPBL transcript variant B	NM_015384.4:c.5862+3508=	NM_015384.4:c.5862+3517_5862+3531del	NM_015384.4:c.5862+3518_5862+3531del	NM_015384.4:c.5862+3519_5862+3531del	NM_015384.4:c.5862+3520_5862+3531del	NM_015384.4:c.5862+3521_5862+3531del	NM_015384.4:c.5862+3522_5862+3531del	NM_015384.4:c.5862+3525_5862+3531del	NM_015384.4:c.5862+3526_5862+3531del	NM_015384.4:c.5862+3527_5862+3531del	NM_015384.4:c.5862+3528_5862+3531del	NM_015384.4:c.5862+3529_5862+3531del	NM_015384.4:c.5862+3530_5862+3531del	NM_015384.4:c.5862+3531del	NM_015384.4:c.5862+3531_5862+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_015384.4:c.5862+3531dup	NM_015384.4:c.5862+3530_5862+3531dup	NM_015384.4:c.5862+3529_5862+3531dup	NM_015384.4:c.5862+3528_5862+3531dup	NM_015384.4:c.5862+3527_5862+3531dup	NM_015384.4:c.5862+3526_5862+3531dup	NM_015384.4:c.5862+3525_5862+3531dup	NM_015384.4:c.5862+3531_5862+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant B	NM_015384.5:c.5862+3508=	NM_015384.5:c.5862+3517_5862+3531del	NM_015384.5:c.5862+3518_5862+3531del	NM_015384.5:c.5862+3519_5862+3531del	NM_015384.5:c.5862+3520_5862+3531del	NM_015384.5:c.5862+3521_5862+3531del	NM_015384.5:c.5862+3522_5862+3531del	NM_015384.5:c.5862+3525_5862+3531del	NM_015384.5:c.5862+3526_5862+3531del	NM_015384.5:c.5862+3527_5862+3531del	NM_015384.5:c.5862+3528_5862+3531del	NM_015384.5:c.5862+3529_5862+3531del	NM_015384.5:c.5862+3530_5862+3531del	NM_015384.5:c.5862+3531del	NM_015384.5:c.5862+3531_5862+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_015384.5:c.5862+3531dup	NM_015384.5:c.5862+3530_5862+3531dup	NM_015384.5:c.5862+3529_5862+3531dup	NM_015384.5:c.5862+3528_5862+3531dup	NM_015384.5:c.5862+3527_5862+3531dup	NM_015384.5:c.5862+3526_5862+3531dup	NM_015384.5:c.5862+3525_5862+3531dup	NM_015384.5:c.5862+3531_5862+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant A	NM_133433.3:c.5862+3508=	NM_133433.3:c.5862+3517_5862+3531del	NM_133433.3:c.5862+3518_5862+3531del	NM_133433.3:c.5862+3519_5862+3531del	NM_133433.3:c.5862+3520_5862+3531del	NM_133433.3:c.5862+3521_5862+3531del	NM_133433.3:c.5862+3522_5862+3531del	NM_133433.3:c.5862+3525_5862+3531del	NM_133433.3:c.5862+3526_5862+3531del	NM_133433.3:c.5862+3527_5862+3531del	NM_133433.3:c.5862+3528_5862+3531del	NM_133433.3:c.5862+3529_5862+3531del	NM_133433.3:c.5862+3530_5862+3531del	NM_133433.3:c.5862+3531del	NM_133433.3:c.5862+3531_5862+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_133433.3:c.5862+3531dup	NM_133433.3:c.5862+3530_5862+3531dup	NM_133433.3:c.5862+3529_5862+3531dup	NM_133433.3:c.5862+3528_5862+3531dup	NM_133433.3:c.5862+3527_5862+3531dup	NM_133433.3:c.5862+3526_5862+3531dup	NM_133433.3:c.5862+3525_5862+3531dup	NM_133433.3:c.5862+3531_5862+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant A	NM_133433.4:c.5862+3508=	NM_133433.4:c.5862+3517_5862+3531del	NM_133433.4:c.5862+3518_5862+3531del	NM_133433.4:c.5862+3519_5862+3531del	NM_133433.4:c.5862+3520_5862+3531del	NM_133433.4:c.5862+3521_5862+3531del	NM_133433.4:c.5862+3522_5862+3531del	NM_133433.4:c.5862+3525_5862+3531del	NM_133433.4:c.5862+3526_5862+3531del	NM_133433.4:c.5862+3527_5862+3531del	NM_133433.4:c.5862+3528_5862+3531del	NM_133433.4:c.5862+3529_5862+3531del	NM_133433.4:c.5862+3530_5862+3531del	NM_133433.4:c.5862+3531del	NM_133433.4:c.5862+3531_5862+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_133433.4:c.5862+3531dup	NM_133433.4:c.5862+3530_5862+3531dup	NM_133433.4:c.5862+3529_5862+3531dup	NM_133433.4:c.5862+3528_5862+3531dup	NM_133433.4:c.5862+3527_5862+3531dup	NM_133433.4:c.5862+3526_5862+3531dup	NM_133433.4:c.5862+3525_5862+3531dup	NM_133433.4:c.5862+3531_5862+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant X1	XM_005248280.1:c.5862+3508=	XM_005248280.1:c.5862+3517_5862+3531del	XM_005248280.1:c.5862+3518_5862+3531del	XM_005248280.1:c.5862+3519_5862+3531del	XM_005248280.1:c.5862+3520_5862+3531del	XM_005248280.1:c.5862+3521_5862+3531del	XM_005248280.1:c.5862+3522_5862+3531del	XM_005248280.1:c.5862+3525_5862+3531del	XM_005248280.1:c.5862+3526_5862+3531del	XM_005248280.1:c.5862+3527_5862+3531del	XM_005248280.1:c.5862+3528_5862+3531del	XM_005248280.1:c.5862+3529_5862+3531del	XM_005248280.1:c.5862+3530_5862+3531del	XM_005248280.1:c.5862+3531del	XM_005248280.1:c.5862+3531_5862+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005248280.1:c.5862+3531dup	XM_005248280.1:c.5862+3530_5862+3531dup	XM_005248280.1:c.5862+3529_5862+3531dup	XM_005248280.1:c.5862+3528_5862+3531dup	XM_005248280.1:c.5862+3527_5862+3531dup	XM_005248280.1:c.5862+3526_5862+3531dup	XM_005248280.1:c.5862+3525_5862+3531dup	XM_005248280.1:c.5862+3531_5862+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant X3	XM_005248280.4:c.5862+3508=	XM_005248280.4:c.5862+3517_5862+3531del	XM_005248280.4:c.5862+3518_5862+3531del	XM_005248280.4:c.5862+3519_5862+3531del	XM_005248280.4:c.5862+3520_5862+3531del	XM_005248280.4:c.5862+3521_5862+3531del	XM_005248280.4:c.5862+3522_5862+3531del	XM_005248280.4:c.5862+3525_5862+3531del	XM_005248280.4:c.5862+3526_5862+3531del	XM_005248280.4:c.5862+3527_5862+3531del	XM_005248280.4:c.5862+3528_5862+3531del	XM_005248280.4:c.5862+3529_5862+3531del	XM_005248280.4:c.5862+3530_5862+3531del	XM_005248280.4:c.5862+3531del	XM_005248280.4:c.5862+3531_5862+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005248280.4:c.5862+3531dup	XM_005248280.4:c.5862+3530_5862+3531dup	XM_005248280.4:c.5862+3529_5862+3531dup	XM_005248280.4:c.5862+3528_5862+3531dup	XM_005248280.4:c.5862+3527_5862+3531dup	XM_005248280.4:c.5862+3526_5862+3531dup	XM_005248280.4:c.5862+3525_5862+3531dup	XM_005248280.4:c.5862+3531_5862+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant X2	XM_005248281.1:c.5502+3508=	XM_005248281.1:c.5502+3517_5502+3531del	XM_005248281.1:c.5502+3518_5502+3531del	XM_005248281.1:c.5502+3519_5502+3531del	XM_005248281.1:c.5502+3520_5502+3531del	XM_005248281.1:c.5502+3521_5502+3531del	XM_005248281.1:c.5502+3522_5502+3531del	XM_005248281.1:c.5502+3525_5502+3531del	XM_005248281.1:c.5502+3526_5502+3531del	XM_005248281.1:c.5502+3527_5502+3531del	XM_005248281.1:c.5502+3528_5502+3531del	XM_005248281.1:c.5502+3529_5502+3531del	XM_005248281.1:c.5502+3530_5502+3531del	XM_005248281.1:c.5502+3531del	XM_005248281.1:c.5502+3531_5502+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005248281.1:c.5502+3531dup	XM_005248281.1:c.5502+3530_5502+3531dup	XM_005248281.1:c.5502+3529_5502+3531dup	XM_005248281.1:c.5502+3528_5502+3531dup	XM_005248281.1:c.5502+3527_5502+3531dup	XM_005248281.1:c.5502+3526_5502+3531dup	XM_005248281.1:c.5502+3525_5502+3531dup	XM_005248281.1:c.5502+3531_5502+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant X3	XM_005248282.1:c.5202+3508=	XM_005248282.1:c.5202+3517_5202+3531del	XM_005248282.1:c.5202+3518_5202+3531del	XM_005248282.1:c.5202+3519_5202+3531del	XM_005248282.1:c.5202+3520_5202+3531del	XM_005248282.1:c.5202+3521_5202+3531del	XM_005248282.1:c.5202+3522_5202+3531del	XM_005248282.1:c.5202+3525_5202+3531del	XM_005248282.1:c.5202+3526_5202+3531del	XM_005248282.1:c.5202+3527_5202+3531del	XM_005248282.1:c.5202+3528_5202+3531del	XM_005248282.1:c.5202+3529_5202+3531del	XM_005248282.1:c.5202+3530_5202+3531del	XM_005248282.1:c.5202+3531del	XM_005248282.1:c.5202+3531_5202+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005248282.1:c.5202+3531dup	XM_005248282.1:c.5202+3530_5202+3531dup	XM_005248282.1:c.5202+3529_5202+3531dup	XM_005248282.1:c.5202+3528_5202+3531dup	XM_005248282.1:c.5202+3527_5202+3531dup	XM_005248282.1:c.5202+3526_5202+3531dup	XM_005248282.1:c.5202+3525_5202+3531dup	XM_005248282.1:c.5202+3531_5202+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant X5	XM_005248282.6:c.5202+3508=	XM_005248282.6:c.5202+3517_5202+3531del	XM_005248282.6:c.5202+3518_5202+3531del	XM_005248282.6:c.5202+3519_5202+3531del	XM_005248282.6:c.5202+3520_5202+3531del	XM_005248282.6:c.5202+3521_5202+3531del	XM_005248282.6:c.5202+3522_5202+3531del	XM_005248282.6:c.5202+3525_5202+3531del	XM_005248282.6:c.5202+3526_5202+3531del	XM_005248282.6:c.5202+3527_5202+3531del	XM_005248282.6:c.5202+3528_5202+3531del	XM_005248282.6:c.5202+3529_5202+3531del	XM_005248282.6:c.5202+3530_5202+3531del	XM_005248282.6:c.5202+3531del	XM_005248282.6:c.5202+3531_5202+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005248282.6:c.5202+3531dup	XM_005248282.6:c.5202+3530_5202+3531dup	XM_005248282.6:c.5202+3529_5202+3531dup	XM_005248282.6:c.5202+3528_5202+3531dup	XM_005248282.6:c.5202+3527_5202+3531dup	XM_005248282.6:c.5202+3526_5202+3531dup	XM_005248282.6:c.5202+3525_5202+3531dup	XM_005248282.6:c.5202+3531_5202+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant X4	XM_005248283.1:c.4245+3508=	XM_005248283.1:c.4245+3517_4245+3531del	XM_005248283.1:c.4245+3518_4245+3531del	XM_005248283.1:c.4245+3519_4245+3531del	XM_005248283.1:c.4245+3520_4245+3531del	XM_005248283.1:c.4245+3521_4245+3531del	XM_005248283.1:c.4245+3522_4245+3531del	XM_005248283.1:c.4245+3525_4245+3531del	XM_005248283.1:c.4245+3526_4245+3531del	XM_005248283.1:c.4245+3527_4245+3531del	XM_005248283.1:c.4245+3528_4245+3531del	XM_005248283.1:c.4245+3529_4245+3531del	XM_005248283.1:c.4245+3530_4245+3531del	XM_005248283.1:c.4245+3531del	XM_005248283.1:c.4245+3531_4245+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005248283.1:c.4245+3531dup	XM_005248283.1:c.4245+3530_4245+3531dup	XM_005248283.1:c.4245+3529_4245+3531dup	XM_005248283.1:c.4245+3528_4245+3531dup	XM_005248283.1:c.4245+3527_4245+3531dup	XM_005248283.1:c.4245+3526_4245+3531dup	XM_005248283.1:c.4245+3525_4245+3531dup	XM_005248283.1:c.4245+3531_4245+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant X1	XM_006714467.3:c.5862+3508=	XM_006714467.3:c.5862+3517_5862+3531del	XM_006714467.3:c.5862+3518_5862+3531del	XM_006714467.3:c.5862+3519_5862+3531del	XM_006714467.3:c.5862+3520_5862+3531del	XM_006714467.3:c.5862+3521_5862+3531del	XM_006714467.3:c.5862+3522_5862+3531del	XM_006714467.3:c.5862+3525_5862+3531del	XM_006714467.3:c.5862+3526_5862+3531del	XM_006714467.3:c.5862+3527_5862+3531del	XM_006714467.3:c.5862+3528_5862+3531del	XM_006714467.3:c.5862+3529_5862+3531del	XM_006714467.3:c.5862+3530_5862+3531del	XM_006714467.3:c.5862+3531del	XM_006714467.3:c.5862+3531_5862+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_006714467.3:c.5862+3531dup	XM_006714467.3:c.5862+3530_5862+3531dup	XM_006714467.3:c.5862+3529_5862+3531dup	XM_006714467.3:c.5862+3528_5862+3531dup	XM_006714467.3:c.5862+3527_5862+3531dup	XM_006714467.3:c.5862+3526_5862+3531dup	XM_006714467.3:c.5862+3525_5862+3531dup	XM_006714467.3:c.5862+3531_5862+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant X2	XM_006714468.3:c.5664+3508=	XM_006714468.3:c.5664+3517_5664+3531del	XM_006714468.3:c.5664+3518_5664+3531del	XM_006714468.3:c.5664+3519_5664+3531del	XM_006714468.3:c.5664+3520_5664+3531del	XM_006714468.3:c.5664+3521_5664+3531del	XM_006714468.3:c.5664+3522_5664+3531del	XM_006714468.3:c.5664+3525_5664+3531del	XM_006714468.3:c.5664+3526_5664+3531del	XM_006714468.3:c.5664+3527_5664+3531del	XM_006714468.3:c.5664+3528_5664+3531del	XM_006714468.3:c.5664+3529_5664+3531del	XM_006714468.3:c.5664+3530_5664+3531del	XM_006714468.3:c.5664+3531del	XM_006714468.3:c.5664+3531_5664+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_006714468.3:c.5664+3531dup	XM_006714468.3:c.5664+3530_5664+3531dup	XM_006714468.3:c.5664+3529_5664+3531dup	XM_006714468.3:c.5664+3528_5664+3531dup	XM_006714468.3:c.5664+3527_5664+3531dup	XM_006714468.3:c.5664+3526_5664+3531dup	XM_006714468.3:c.5664+3525_5664+3531dup	XM_006714468.3:c.5664+3531_5664+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant X6	XM_011514015.2:c.5862+3508=	XM_011514015.2:c.5862+3517_5862+3531del	XM_011514015.2:c.5862+3518_5862+3531del	XM_011514015.2:c.5862+3519_5862+3531del	XM_011514015.2:c.5862+3520_5862+3531del	XM_011514015.2:c.5862+3521_5862+3531del	XM_011514015.2:c.5862+3522_5862+3531del	XM_011514015.2:c.5862+3525_5862+3531del	XM_011514015.2:c.5862+3526_5862+3531del	XM_011514015.2:c.5862+3527_5862+3531del	XM_011514015.2:c.5862+3528_5862+3531del	XM_011514015.2:c.5862+3529_5862+3531del	XM_011514015.2:c.5862+3530_5862+3531del	XM_011514015.2:c.5862+3531del	XM_011514015.2:c.5862+3531_5862+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011514015.2:c.5862+3531dup	XM_011514015.2:c.5862+3530_5862+3531dup	XM_011514015.2:c.5862+3529_5862+3531dup	XM_011514015.2:c.5862+3528_5862+3531dup	XM_011514015.2:c.5862+3527_5862+3531dup	XM_011514015.2:c.5862+3526_5862+3531dup	XM_011514015.2:c.5862+3525_5862+3531dup	XM_011514015.2:c.5862+3531_5862+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
NIPBL transcript variant X4	XM_017009329.2:c.5862+3508=	XM_017009329.2:c.5862+3517_5862+3531del	XM_017009329.2:c.5862+3518_5862+3531del	XM_017009329.2:c.5862+3519_5862+3531del	XM_017009329.2:c.5862+3520_5862+3531del	XM_017009329.2:c.5862+3521_5862+3531del	XM_017009329.2:c.5862+3522_5862+3531del	XM_017009329.2:c.5862+3525_5862+3531del	XM_017009329.2:c.5862+3526_5862+3531del	XM_017009329.2:c.5862+3527_5862+3531del	XM_017009329.2:c.5862+3528_5862+3531del	XM_017009329.2:c.5862+3529_5862+3531del	XM_017009329.2:c.5862+3530_5862+3531del	XM_017009329.2:c.5862+3531del	XM_017009329.2:c.5862+3531_5862+3532insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_017009329.2:c.5862+3531dup	XM_017009329.2:c.5862+3530_5862+3531dup	XM_017009329.2:c.5862+3529_5862+3531dup	XM_017009329.2:c.5862+3528_5862+3531dup	XM_017009329.2:c.5862+3527_5862+3531dup	XM_017009329.2:c.5862+3526_5862+3531dup	XM_017009329.2:c.5862+3525_5862+3531dup	XM_017009329.2:c.5862+3531_5862+3532insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

61 SubSNP, 43 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42563469	Mar 15, 2006 (137)
2	HUMANGENOME_JCVI	ss95391932	Dec 05, 2013 (138)
3	PJP	ss295221243	May 09, 2011 (137)
4	EVA_UK10K_TWINSUK	ss1704634668	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1704637861	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1710204363	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1710204372	Apr 01, 2015 (144)
8	SWEGEN	ss2996749280	Nov 08, 2017 (151)
9	MCHAISSO	ss3065025307	Nov 08, 2017 (151)
10	PACBIO	ss3785083996	Jul 13, 2019 (153)
11	PACBIO	ss3790494710	Jul 13, 2019 (153)
12	PACBIO	ss3790494711	Jul 13, 2019 (153)
13	PACBIO	ss3795371142	Jul 13, 2019 (153)
14	EVA	ss3829196332	Apr 26, 2020 (154)
15	KOGIC	ss3956442219	Apr 26, 2020 (154)
16	KOGIC	ss3956442220	Apr 26, 2020 (154)
17	KOGIC	ss3956442221	Apr 26, 2020 (154)
18	KOGIC	ss3956442222	Apr 26, 2020 (154)
19	KOGIC	ss3956442223	Apr 26, 2020 (154)
20	GNOMAD	ss4102585889	Apr 26, 2021 (155)
21	GNOMAD	ss4102585890	Apr 26, 2021 (155)
22	GNOMAD	ss4102585891	Apr 26, 2021 (155)
23	GNOMAD	ss4102585892	Apr 26, 2021 (155)
24	GNOMAD	ss4102585893	Apr 26, 2021 (155)
25	GNOMAD	ss4102585894	Apr 26, 2021 (155)
26	GNOMAD	ss4102585895	Apr 26, 2021 (155)
27	GNOMAD	ss4102585896	Apr 26, 2021 (155)
28	GNOMAD	ss4102585898	Apr 26, 2021 (155)
29	GNOMAD	ss4102585899	Apr 26, 2021 (155)
30	GNOMAD	ss4102585900	Apr 26, 2021 (155)
31	GNOMAD	ss4102585901	Apr 26, 2021 (155)
32	GNOMAD	ss4102585902	Apr 26, 2021 (155)
33	GNOMAD	ss4102585903	Apr 26, 2021 (155)
34	GNOMAD	ss4102585904	Apr 26, 2021 (155)
35	GNOMAD	ss4102585905	Apr 26, 2021 (155)
36	GNOMAD	ss4102585906	Apr 26, 2021 (155)
37	GNOMAD	ss4102585907	Apr 26, 2021 (155)
38	GNOMAD	ss4102585908	Apr 26, 2021 (155)
39	TOPMED	ss4656160067	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5171245663	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5171245664	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5171245665	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5171245666	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5171245667	Apr 26, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5263560336	Oct 17, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5263560337	Oct 17, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5263560338	Oct 17, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5263560339	Oct 17, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5263560340	Oct 17, 2022 (156)
50	HUGCELL_USP	ss5461827739	Oct 17, 2022 (156)
51	HUGCELL_USP	ss5461827740	Oct 17, 2022 (156)
52	HUGCELL_USP	ss5461827741	Oct 17, 2022 (156)
53	HUGCELL_USP	ss5461827742	Oct 17, 2022 (156)
54	HUGCELL_USP	ss5461827743	Oct 17, 2022 (156)
55	TOMMO_GENOMICS	ss5707154978	Oct 17, 2022 (156)
56	TOMMO_GENOMICS	ss5707154979	Oct 17, 2022 (156)
57	TOMMO_GENOMICS	ss5707154980	Oct 17, 2022 (156)
58	TOMMO_GENOMICS	ss5707154981	Oct 17, 2022 (156)
59	TOMMO_GENOMICS	ss5707154982	Oct 17, 2022 (156)
60	TOMMO_GENOMICS	ss5707154983	Oct 17, 2022 (156)
61	EVA	ss5854770683	Oct 17, 2022 (156)
62	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 14600022 (NC_000005.9:37031022:T: 1671/3854) Row 14600023 (NC_000005.9:37031021:TTT: 1457/3854)	-	Oct 12, 2018 (152)
63	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 14600022 (NC_000005.9:37031022:T: 1671/3854) Row 14600023 (NC_000005.9:37031021:TTT: 1457/3854)	-	Oct 12, 2018 (152)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185460263 (NC_000005.10:37030919::T 3220/76836) Row 185460264 (NC_000005.10:37030919::TT 162/76872) Row 185460265 (NC_000005.10:37030919::TTT 15/76942)...	-	Apr 26, 2021 (155)
85	Korean Genome Project Submission ignored due to conflicting rows: Row 12820220 (NC_000005.10:37030921:TTT: 124/1822) Row 12820221 (NC_000005.10:37030922:TT: 412/1822) Row 12820222 (NC_000005.10:37030923:T: 333/1822)...	-	Apr 26, 2020 (154)
86	Korean Genome Project Submission ignored due to conflicting rows: Row 12820220 (NC_000005.10:37030921:TTT: 124/1822) Row 12820221 (NC_000005.10:37030922:TT: 412/1822) Row 12820222 (NC_000005.10:37030923:T: 333/1822)...	-	Apr 26, 2020 (154)
87	Korean Genome Project Submission ignored due to conflicting rows: Row 12820220 (NC_000005.10:37030921:TTT: 124/1822) Row 12820221 (NC_000005.10:37030922:TT: 412/1822) Row 12820222 (NC_000005.10:37030923:T: 333/1822)...	-	Apr 26, 2020 (154)
88	Korean Genome Project Submission ignored due to conflicting rows: Row 12820220 (NC_000005.10:37030921:TTT: 124/1822) Row 12820221 (NC_000005.10:37030922:TT: 412/1822) Row 12820222 (NC_000005.10:37030923:T: 333/1822)...	-	Apr 26, 2020 (154)
89	Korean Genome Project Submission ignored due to conflicting rows: Row 12820220 (NC_000005.10:37030921:TTT: 124/1822) Row 12820221 (NC_000005.10:37030922:TT: 412/1822) Row 12820222 (NC_000005.10:37030923:T: 333/1822)...	-	Apr 26, 2020 (154)
90	8.3KJPN Submission ignored due to conflicting rows: Row 29214970 (NC_000005.9:37031021:TT: 3223/16646) Row 29214971 (NC_000005.9:37031021::T 295/16646) Row 29214972 (NC_000005.9:37031021:T: 1226/16646)...	-	Apr 26, 2021 (155)
91	8.3KJPN Submission ignored due to conflicting rows: Row 29214970 (NC_000005.9:37031021:TT: 3223/16646) Row 29214971 (NC_000005.9:37031021::T 295/16646) Row 29214972 (NC_000005.9:37031021:T: 1226/16646)...	-	Apr 26, 2021 (155)
92	8.3KJPN Submission ignored due to conflicting rows: Row 29214970 (NC_000005.9:37031021:TT: 3223/16646) Row 29214971 (NC_000005.9:37031021::T 295/16646) Row 29214972 (NC_000005.9:37031021:T: 1226/16646)...	-	Apr 26, 2021 (155)
93	8.3KJPN Submission ignored due to conflicting rows: Row 29214970 (NC_000005.9:37031021:TT: 3223/16646) Row 29214971 (NC_000005.9:37031021::T 295/16646) Row 29214972 (NC_000005.9:37031021:T: 1226/16646)...	-	Apr 26, 2021 (155)
94	8.3KJPN Submission ignored due to conflicting rows: Row 29214970 (NC_000005.9:37031021:TT: 3223/16646) Row 29214971 (NC_000005.9:37031021::T 295/16646) Row 29214972 (NC_000005.9:37031021:T: 1226/16646)...	-	Apr 26, 2021 (155)
95	14KJPN Submission ignored due to conflicting rows: Row 40992082 (NC_000005.10:37030919:TT: 5751/27486) Row 40992083 (NC_000005.10:37030919:T: 2047/27486) Row 40992084 (NC_000005.10:37030919::T 405/27486)...	-	Oct 17, 2022 (156)
96	14KJPN Submission ignored due to conflicting rows: Row 40992082 (NC_000005.10:37030919:TT: 5751/27486) Row 40992083 (NC_000005.10:37030919:T: 2047/27486) Row 40992084 (NC_000005.10:37030919::T 405/27486)...	-	Oct 17, 2022 (156)
97	14KJPN Submission ignored due to conflicting rows: Row 40992082 (NC_000005.10:37030919:TT: 5751/27486) Row 40992083 (NC_000005.10:37030919:T: 2047/27486) Row 40992084 (NC_000005.10:37030919::T 405/27486)...	-	Oct 17, 2022 (156)
98	14KJPN Submission ignored due to conflicting rows: Row 40992082 (NC_000005.10:37030919:TT: 5751/27486) Row 40992083 (NC_000005.10:37030919:T: 2047/27486) Row 40992084 (NC_000005.10:37030919::T 405/27486)...	-	Oct 17, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 40992082 (NC_000005.10:37030919:TT: 5751/27486) Row 40992083 (NC_000005.10:37030919:T: 2047/27486) Row 40992084 (NC_000005.10:37030919::T 405/27486)...	-	Oct 17, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 40992082 (NC_000005.10:37030919:TT: 5751/27486) Row 40992083 (NC_000005.10:37030919:T: 2047/27486) Row 40992084 (NC_000005.10:37030919::T 405/27486)...	-	Oct 17, 2022 (156)
101	TopMed	NC_000005.10 - 37030920	Apr 26, 2021 (155)
102	UK 10K study - Twins Submission ignored due to conflicting rows: Row 14600022 (NC_000005.9:37031022:T: 1600/3708) Row 14600023 (NC_000005.9:37031021:TTT: 1361/3708)	-	Oct 12, 2018 (152)
103	UK 10K study - Twins Submission ignored due to conflicting rows: Row 14600022 (NC_000005.9:37031022:T: 1600/3708) Row 14600023 (NC_000005.9:37031021:TTT: 1361/3708)	-	Oct 12, 2018 (152)
104	ALFA	NC_000005.10 - 37030920	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)
rs33941860	May 23, 2006 (127)
rs35423557	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4102585908	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
493537624, ss4656160067	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4102585907	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4102585906	NC_000005.10:37030919:TTTTTTTTTTTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss5171245667	NC_000005.9:37031021:TTTTTTTTTTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4102585905, ss5707154983	NC_000005.10:37030919:TTTTTTTTTTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4102585904	NC_000005.10:37030919:TTTTTTTTTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4102585903	NC_000005.10:37030919:TTTTTTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4102585902	NC_000005.10:37030919:TTTTTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3956442223, ss4102585901, ss5263560337, ss5461827742	NC_000005.10:37030919:TTTTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4102585900, ss5854770683	NC_000005.10:37030919:TTTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss1704634668, ss1704637861, ss2996749280, ss3790494710, ss5171245666	NC_000005.9:37031021:TTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4102585899, ss5263560340, ss5461827743, ss5707154981	NC_000005.10:37030919:TTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3956442219	NC_000005.10:37030921:TTT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3790494711, ss3795371142, ss5171245663	NC_000005.9:37031021:TT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss1710204363, ss1710204372	NC_000005.9:37031022:TT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3065025307, ss4102585898, ss5263560336, ss5461827739, ss5707154978	NC_000005.10:37030919:TT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3956442220	NC_000005.10:37030922:TT:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss295221243	NC_000005.8:37066778:T:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3785083996, ss3829196332, ss5171245665	NC_000005.9:37031021:T:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
	NC_000005.9:37031022:T:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5263560339, ss5461827741, ss5707154979	NC_000005.10:37030919:T:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3956442221	NC_000005.10:37030923:T:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss42563469	NT_006576.16:37021021:T:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss95391932	NT_006576.16:37021044:T:	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102585896	NC_000005.10:37030919::TTTTTTTTTTT… NC_000005.10:37030919::TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5171245664	NC_000005.9:37031021::T	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102585889, ss5263560338, ss5461827740, ss5707154980	NC_000005.10:37030919::T	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3956442222	NC_000005.10:37030924::T	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102585890, ss5707154982	NC_000005.10:37030919::TT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102585891	NC_000005.10:37030919::TTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
11959119633	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102585892	NC_000005.10:37030919::TTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102585893	NC_000005.10:37030919::TTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102585894	NC_000005.10:37030919::TTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102585895	NC_000005.10:37030919::TTTTTTT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
	NC_000005.10:37030919::TTTTTTTTTTT… NC_000005.10:37030919::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCT	NC_000005.10:37030919:TTTTTTTTTTTT… NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs11291612

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

rs11291612