Name: rs754104539
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.

rs754104539

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:131065040-131065059 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₁ / del(A)₉ / del(A)₈ / del…
del(A)₁₁ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.00049 (6/12332, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LAMC3 : 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	HTRZ	HWEP
Total	Global	12332	AAAAAAAAAAAAAAAAAAAA=0.99951	AAAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00049, AAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000	0.999027	0.000973	0
European	Sub	9664	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	N/A
African	Sub	1356	AAAAAAAAAAAAAAAAAAAA=0.9956	AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0044, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.99115	0.00885	0
African Others	Sub	62	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
African American	Sub	1294	AAAAAAAAAAAAAAAAAAAA=0.9954	AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0046, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.990726	0.009274	0
Asian	Sub	108	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
East Asian	Sub	82	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
Other Asian	Sub	26	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
Latin American 1	Sub	126	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
Latin American 2	Sub	574	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
South Asian	Sub	98	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
Other	Sub	406	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	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
Allele Frequency Aggregator	Total	Global	12332	(A)₂₀=0.99951	del(A)₁₁=0.00000, del(A)₉=0.00000, del(A)₈=0.00000, del(A)₇=0.00000, del(A)₆=0.00000, del(A)₅=0.00000, del(A)₄=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00049, dupA=0.00000, dupAA=0.00000, dupAAA=0.00000, dup(A)₄=0.00000, dup(A)₅=0.00000, dup(A)₆=0.00000, dup(A)₇=0.00000
Allele Frequency Aggregator	European	Sub	9664	(A)₂₀=1.0000	del(A)₁₁=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000, dup(A)₇=0.0000
Allele Frequency Aggregator	African	Sub	1356	(A)₂₀=0.9956	del(A)₁₁=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0044, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000, dup(A)₇=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	574	(A)₂₀=1.000	del(A)₁₁=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000
Allele Frequency Aggregator	Other	Sub	406	(A)₂₀=1.000	del(A)₁₁=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	126	(A)₂₀=1.000	del(A)₁₁=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000
Allele Frequency Aggregator	Asian	Sub	108	(A)₂₀=1.000	del(A)₁₁=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000
Allele Frequency Aggregator	South Asian	Sub	98	(A)₂₀=1.00	del(A)₁₁=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₇=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 9	NC_000009.12:g.131065049_131065059del
GRCh38.p14 chr 9	NC_000009.12:g.131065051_131065059del
GRCh38.p14 chr 9	NC_000009.12:g.131065052_131065059del
GRCh38.p14 chr 9	NC_000009.12:g.131065053_131065059del
GRCh38.p14 chr 9	NC_000009.12:g.131065054_131065059del
GRCh38.p14 chr 9	NC_000009.12:g.131065055_131065059del
GRCh38.p14 chr 9	NC_000009.12:g.131065056_131065059del
GRCh38.p14 chr 9	NC_000009.12:g.131065057_131065059del
GRCh38.p14 chr 9	NC_000009.12:g.131065058_131065059del
GRCh38.p14 chr 9	NC_000009.12:g.131065059del
GRCh38.p14 chr 9	NC_000009.12:g.131065059dup
GRCh38.p14 chr 9	NC_000009.12:g.131065058_131065059dup
GRCh38.p14 chr 9	NC_000009.12:g.131065057_131065059dup
GRCh38.p14 chr 9	NC_000009.12:g.131065056_131065059dup
GRCh38.p14 chr 9	NC_000009.12:g.131065055_131065059dup
GRCh38.p14 chr 9	NC_000009.12:g.131065054_131065059dup
GRCh38.p14 chr 9	NC_000009.12:g.131065053_131065059dup
GRCh38.p14 chr 9	NC_000009.12:g.131065052_131065059dup
GRCh38.p14 chr 9	NC_000009.12:g.131065051_131065059dup
GRCh38.p14 chr 9	NC_000009.12:g.131065050_131065059dup
GRCh38.p14 chr 9	NC_000009.12:g.131065049_131065059dup
GRCh37.p13 chr 9	NC_000009.11:g.133940436_133940446del
GRCh37.p13 chr 9	NC_000009.11:g.133940438_133940446del
GRCh37.p13 chr 9	NC_000009.11:g.133940439_133940446del
GRCh37.p13 chr 9	NC_000009.11:g.133940440_133940446del
GRCh37.p13 chr 9	NC_000009.11:g.133940441_133940446del
GRCh37.p13 chr 9	NC_000009.11:g.133940442_133940446del
GRCh37.p13 chr 9	NC_000009.11:g.133940443_133940446del
GRCh37.p13 chr 9	NC_000009.11:g.133940444_133940446del
GRCh37.p13 chr 9	NC_000009.11:g.133940445_133940446del
GRCh37.p13 chr 9	NC_000009.11:g.133940446del
GRCh37.p13 chr 9	NC_000009.11:g.133940446dup
GRCh37.p13 chr 9	NC_000009.11:g.133940445_133940446dup
GRCh37.p13 chr 9	NC_000009.11:g.133940444_133940446dup
GRCh37.p13 chr 9	NC_000009.11:g.133940443_133940446dup
GRCh37.p13 chr 9	NC_000009.11:g.133940442_133940446dup
GRCh37.p13 chr 9	NC_000009.11:g.133940441_133940446dup
GRCh37.p13 chr 9	NC_000009.11:g.133940440_133940446dup
GRCh37.p13 chr 9	NC_000009.11:g.133940439_133940446dup
GRCh37.p13 chr 9	NC_000009.11:g.133940438_133940446dup
GRCh37.p13 chr 9	NC_000009.11:g.133940437_133940446dup
GRCh37.p13 chr 9	NC_000009.11:g.133940436_133940446dup
LAMC3 RefSeqGene	NG_029800.1:g.60933_60943del
LAMC3 RefSeqGene	NG_029800.1:g.60935_60943del
LAMC3 RefSeqGene	NG_029800.1:g.60936_60943del
LAMC3 RefSeqGene	NG_029800.1:g.60937_60943del
LAMC3 RefSeqGene	NG_029800.1:g.60938_60943del
LAMC3 RefSeqGene	NG_029800.1:g.60939_60943del
LAMC3 RefSeqGene	NG_029800.1:g.60940_60943del
LAMC3 RefSeqGene	NG_029800.1:g.60941_60943del
LAMC3 RefSeqGene	NG_029800.1:g.60942_60943del
LAMC3 RefSeqGene	NG_029800.1:g.60943del
LAMC3 RefSeqGene	NG_029800.1:g.60943dup
LAMC3 RefSeqGene	NG_029800.1:g.60942_60943dup
LAMC3 RefSeqGene	NG_029800.1:g.60941_60943dup
LAMC3 RefSeqGene	NG_029800.1:g.60940_60943dup
LAMC3 RefSeqGene	NG_029800.1:g.60939_60943dup
LAMC3 RefSeqGene	NG_029800.1:g.60938_60943dup
LAMC3 RefSeqGene	NG_029800.1:g.60937_60943dup
LAMC3 RefSeqGene	NG_029800.1:g.60936_60943dup
LAMC3 RefSeqGene	NG_029800.1:g.60935_60943dup
LAMC3 RefSeqGene	NG_029800.1:g.60934_60943dup
LAMC3 RefSeqGene	NG_029800.1:g.60933_60943dup

Gene: LAMC3, laminin subunit gamma 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LAMC3 transcript	NM_006059.4:c.2348-1911_2… NM_006059.4:c.2348-1911_2348-1901del	N/A	Intron Variant
LAMC3 transcript variant X2	XM_006716921.3:c.2348-191… XM_006716921.3:c.2348-1911_2348-1901del	N/A	Intron Variant
LAMC3 transcript variant X1	XM_011518121.2:c.2348-191… XM_011518121.2:c.2348-1911_2348-1901del	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	(A)₂₀=	del(A)₁₁	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₁
GRCh38.p14 chr 9	NC_000009.12:g.131065040_131065059=	NC_000009.12:g.131065049_131065059del	NC_000009.12:g.131065051_131065059del	NC_000009.12:g.131065052_131065059del	NC_000009.12:g.131065053_131065059del	NC_000009.12:g.131065054_131065059del	NC_000009.12:g.131065055_131065059del	NC_000009.12:g.131065056_131065059del	NC_000009.12:g.131065057_131065059del	NC_000009.12:g.131065058_131065059del	NC_000009.12:g.131065059del	NC_000009.12:g.131065059dup	NC_000009.12:g.131065058_131065059dup	NC_000009.12:g.131065057_131065059dup	NC_000009.12:g.131065056_131065059dup	NC_000009.12:g.131065055_131065059dup	NC_000009.12:g.131065054_131065059dup	NC_000009.12:g.131065053_131065059dup	NC_000009.12:g.131065052_131065059dup	NC_000009.12:g.131065051_131065059dup	NC_000009.12:g.131065050_131065059dup	NC_000009.12:g.131065049_131065059dup
GRCh37.p13 chr 9	NC_000009.11:g.133940427_133940446=	NC_000009.11:g.133940436_133940446del	NC_000009.11:g.133940438_133940446del	NC_000009.11:g.133940439_133940446del	NC_000009.11:g.133940440_133940446del	NC_000009.11:g.133940441_133940446del	NC_000009.11:g.133940442_133940446del	NC_000009.11:g.133940443_133940446del	NC_000009.11:g.133940444_133940446del	NC_000009.11:g.133940445_133940446del	NC_000009.11:g.133940446del	NC_000009.11:g.133940446dup	NC_000009.11:g.133940445_133940446dup	NC_000009.11:g.133940444_133940446dup	NC_000009.11:g.133940443_133940446dup	NC_000009.11:g.133940442_133940446dup	NC_000009.11:g.133940441_133940446dup	NC_000009.11:g.133940440_133940446dup	NC_000009.11:g.133940439_133940446dup	NC_000009.11:g.133940438_133940446dup	NC_000009.11:g.133940437_133940446dup	NC_000009.11:g.133940436_133940446dup
LAMC3 RefSeqGene	NG_029800.1:g.60924_60943=	NG_029800.1:g.60933_60943del	NG_029800.1:g.60935_60943del	NG_029800.1:g.60936_60943del	NG_029800.1:g.60937_60943del	NG_029800.1:g.60938_60943del	NG_029800.1:g.60939_60943del	NG_029800.1:g.60940_60943del	NG_029800.1:g.60941_60943del	NG_029800.1:g.60942_60943del	NG_029800.1:g.60943del	NG_029800.1:g.60943dup	NG_029800.1:g.60942_60943dup	NG_029800.1:g.60941_60943dup	NG_029800.1:g.60940_60943dup	NG_029800.1:g.60939_60943dup	NG_029800.1:g.60938_60943dup	NG_029800.1:g.60937_60943dup	NG_029800.1:g.60936_60943dup	NG_029800.1:g.60935_60943dup	NG_029800.1:g.60934_60943dup	NG_029800.1:g.60933_60943dup
LAMC3 transcript	NM_006059.3:c.2348-1920=	NM_006059.3:c.2348-1911_2348-1901del	NM_006059.3:c.2348-1909_2348-1901del	NM_006059.3:c.2348-1908_2348-1901del	NM_006059.3:c.2348-1907_2348-1901del	NM_006059.3:c.2348-1906_2348-1901del	NM_006059.3:c.2348-1905_2348-1901del	NM_006059.3:c.2348-1904_2348-1901del	NM_006059.3:c.2348-1903_2348-1901del	NM_006059.3:c.2348-1902_2348-1901del	NM_006059.3:c.2348-1901del	NM_006059.3:c.2348-1901dup	NM_006059.3:c.2348-1902_2348-1901dup	NM_006059.3:c.2348-1903_2348-1901dup	NM_006059.3:c.2348-1904_2348-1901dup	NM_006059.3:c.2348-1905_2348-1901dup	NM_006059.3:c.2348-1906_2348-1901dup	NM_006059.3:c.2348-1907_2348-1901dup	NM_006059.3:c.2348-1908_2348-1901dup	NM_006059.3:c.2348-1909_2348-1901dup	NM_006059.3:c.2348-1910_2348-1901dup	NM_006059.3:c.2348-1911_2348-1901dup
LAMC3 transcript	NM_006059.4:c.2348-1920=	NM_006059.4:c.2348-1911_2348-1901del	NM_006059.4:c.2348-1909_2348-1901del	NM_006059.4:c.2348-1908_2348-1901del	NM_006059.4:c.2348-1907_2348-1901del	NM_006059.4:c.2348-1906_2348-1901del	NM_006059.4:c.2348-1905_2348-1901del	NM_006059.4:c.2348-1904_2348-1901del	NM_006059.4:c.2348-1903_2348-1901del	NM_006059.4:c.2348-1902_2348-1901del	NM_006059.4:c.2348-1901del	NM_006059.4:c.2348-1901dup	NM_006059.4:c.2348-1902_2348-1901dup	NM_006059.4:c.2348-1903_2348-1901dup	NM_006059.4:c.2348-1904_2348-1901dup	NM_006059.4:c.2348-1905_2348-1901dup	NM_006059.4:c.2348-1906_2348-1901dup	NM_006059.4:c.2348-1907_2348-1901dup	NM_006059.4:c.2348-1908_2348-1901dup	NM_006059.4:c.2348-1909_2348-1901dup	NM_006059.4:c.2348-1910_2348-1901dup	NM_006059.4:c.2348-1911_2348-1901dup
LAMC3 transcript variant X2	XM_006716921.3:c.2348-1920=	XM_006716921.3:c.2348-1911_2348-1901del	XM_006716921.3:c.2348-1909_2348-1901del	XM_006716921.3:c.2348-1908_2348-1901del	XM_006716921.3:c.2348-1907_2348-1901del	XM_006716921.3:c.2348-1906_2348-1901del	XM_006716921.3:c.2348-1905_2348-1901del	XM_006716921.3:c.2348-1904_2348-1901del	XM_006716921.3:c.2348-1903_2348-1901del	XM_006716921.3:c.2348-1902_2348-1901del	XM_006716921.3:c.2348-1901del	XM_006716921.3:c.2348-1901dup	XM_006716921.3:c.2348-1902_2348-1901dup	XM_006716921.3:c.2348-1903_2348-1901dup	XM_006716921.3:c.2348-1904_2348-1901dup	XM_006716921.3:c.2348-1905_2348-1901dup	XM_006716921.3:c.2348-1906_2348-1901dup	XM_006716921.3:c.2348-1907_2348-1901dup	XM_006716921.3:c.2348-1908_2348-1901dup	XM_006716921.3:c.2348-1909_2348-1901dup	XM_006716921.3:c.2348-1910_2348-1901dup	XM_006716921.3:c.2348-1911_2348-1901dup
LAMC3 transcript variant X1	XM_011518121.2:c.2348-1920=	XM_011518121.2:c.2348-1911_2348-1901del	XM_011518121.2:c.2348-1909_2348-1901del	XM_011518121.2:c.2348-1908_2348-1901del	XM_011518121.2:c.2348-1907_2348-1901del	XM_011518121.2:c.2348-1906_2348-1901del	XM_011518121.2:c.2348-1905_2348-1901del	XM_011518121.2:c.2348-1904_2348-1901del	XM_011518121.2:c.2348-1903_2348-1901del	XM_011518121.2:c.2348-1902_2348-1901del	XM_011518121.2:c.2348-1901del	XM_011518121.2:c.2348-1901dup	XM_011518121.2:c.2348-1902_2348-1901dup	XM_011518121.2:c.2348-1903_2348-1901dup	XM_011518121.2:c.2348-1904_2348-1901dup	XM_011518121.2:c.2348-1905_2348-1901dup	XM_011518121.2:c.2348-1906_2348-1901dup	XM_011518121.2:c.2348-1907_2348-1901dup	XM_011518121.2:c.2348-1908_2348-1901dup	XM_011518121.2:c.2348-1909_2348-1901dup	XM_011518121.2:c.2348-1910_2348-1901dup	XM_011518121.2:c.2348-1911_2348-1901dup

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#.

59 SubSNP, 43 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_UK10K_ALSPAC	ss1706580981	Apr 01, 2015 (144)
2	EVA_UK10K_ALSPAC	ss1706580983	Apr 01, 2015 (144)
3	EVA_UK10K_TWINSUK	ss1706580998	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1706580999	Apr 01, 2015 (144)
5	SWEGEN	ss3005681597	Nov 08, 2017 (151)
6	EVA_DECODE	ss3724862566	Jul 13, 2019 (153)
7	EVA_DECODE	ss3724862567	Jul 13, 2019 (153)
8	EVA_DECODE	ss3724862568	Jul 13, 2019 (153)
9	EVA_DECODE	ss3724862569	Jul 13, 2019 (153)
10	PACBIO	ss3791733825	Jul 13, 2019 (153)
11	EVA	ss3831886512	Apr 26, 2020 (154)
12	KOGIC	ss3966872428	Apr 26, 2020 (154)
13	KOGIC	ss3966872429	Apr 26, 2020 (154)
14	KOGIC	ss3966872430	Apr 26, 2020 (154)
15	KOGIC	ss3966872431	Apr 26, 2020 (154)
16	KOGIC	ss3966872432	Apr 26, 2020 (154)
17	KOGIC	ss3966872433	Apr 26, 2020 (154)
18	GNOMAD	ss4210384574	Apr 26, 2021 (155)
19	GNOMAD	ss4210384575	Apr 26, 2021 (155)
20	GNOMAD	ss4210384576	Apr 26, 2021 (155)
21	GNOMAD	ss4210384577	Apr 26, 2021 (155)
22	GNOMAD	ss4210384578	Apr 26, 2021 (155)
23	GNOMAD	ss4210384579	Apr 26, 2021 (155)
24	GNOMAD	ss4210384580	Apr 26, 2021 (155)
25	GNOMAD	ss4210384581	Apr 26, 2021 (155)
26	GNOMAD	ss4210384582	Apr 26, 2021 (155)
27	GNOMAD	ss4210384583	Apr 26, 2021 (155)
28	GNOMAD	ss4210384584	Apr 26, 2021 (155)
29	GNOMAD	ss4210384585	Apr 26, 2021 (155)
30	GNOMAD	ss4210384586	Apr 26, 2021 (155)
31	GNOMAD	ss4210384587	Apr 26, 2021 (155)
32	GNOMAD	ss4210384588	Apr 26, 2021 (155)
33	GNOMAD	ss4210384589	Apr 26, 2021 (155)
34	TOPMED	ss4837536823	Apr 26, 2021 (155)
35	TOPMED	ss4837536824	Apr 26, 2021 (155)
36	TOPMED	ss4837536825	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5195553163	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5195553164	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5195553165	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5195553166	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5195553167	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5195553168	Apr 26, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5282370160	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5282370161	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5282370162	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5282370163	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5282370164	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5478218948	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5478218949	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5478218950	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5478218951	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5478218952	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5478218953	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5740168505	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5740168506	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5740168507	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5740168508	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5740168509	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5740168510	Oct 16, 2022 (156)
60	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 26676118 (NC_000009.11:133940426::AA 2690/3854) Row 26676119 (NC_000009.11:133940426::AAA 777/3854)	-	Oct 12, 2018 (152)
61	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 26676118 (NC_000009.11:133940426::AA 2690/3854) Row 26676119 (NC_000009.11:133940426::AAA 777/3854)	-	Oct 12, 2018 (152)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339226697 (NC_000009.12:131065039::A 324/25354) Row 339226698 (NC_000009.12:131065039::AA 62/25346) Row 339226699 (NC_000009.12:131065039::AAA 1439/25324)...	-	Apr 26, 2021 (155)
79	Korean Genome Project Submission ignored due to conflicting rows: Row 23250429 (NC_000009.12:131065039:A: 86/1816) Row 23250430 (NC_000009.12:131065040::A 52/1816) Row 23250431 (NC_000009.12:131065040::AA 6/1816)...	-	Apr 26, 2020 (154)
80	Korean Genome Project Submission ignored due to conflicting rows: Row 23250429 (NC_000009.12:131065039:A: 86/1816) Row 23250430 (NC_000009.12:131065040::A 52/1816) Row 23250431 (NC_000009.12:131065040::AA 6/1816)...	-	Apr 26, 2020 (154)
81	Korean Genome Project Submission ignored due to conflicting rows: Row 23250429 (NC_000009.12:131065039:A: 86/1816) Row 23250430 (NC_000009.12:131065040::A 52/1816) Row 23250431 (NC_000009.12:131065040::AA 6/1816)...	-	Apr 26, 2020 (154)
82	Korean Genome Project Submission ignored due to conflicting rows: Row 23250429 (NC_000009.12:131065039:A: 86/1816) Row 23250430 (NC_000009.12:131065040::A 52/1816) Row 23250431 (NC_000009.12:131065040::AA 6/1816)...	-	Apr 26, 2020 (154)
83	Korean Genome Project Submission ignored due to conflicting rows: Row 23250429 (NC_000009.12:131065039:A: 86/1816) Row 23250430 (NC_000009.12:131065040::A 52/1816) Row 23250431 (NC_000009.12:131065040::AA 6/1816)...	-	Apr 26, 2020 (154)
84	Korean Genome Project Submission ignored due to conflicting rows: Row 23250429 (NC_000009.12:131065039:A: 86/1816) Row 23250430 (NC_000009.12:131065040::A 52/1816) Row 23250431 (NC_000009.12:131065040::AA 6/1816)...	-	Apr 26, 2020 (154)
85	8.3KJPN Submission ignored due to conflicting rows: Row 53522470 (NC_000009.11:133940426::AAA 97/16096) Row 53522471 (NC_000009.11:133940426::A 52/16096) Row 53522472 (NC_000009.11:133940426::AAAAA 16/16096)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 53522470 (NC_000009.11:133940426::AAA 97/16096) Row 53522471 (NC_000009.11:133940426::A 52/16096) Row 53522472 (NC_000009.11:133940426::AAAAA 16/16096)...	-	Apr 26, 2021 (155)
87	8.3KJPN Submission ignored due to conflicting rows: Row 53522470 (NC_000009.11:133940426::AAA 97/16096) Row 53522471 (NC_000009.11:133940426::A 52/16096) Row 53522472 (NC_000009.11:133940426::AAAAA 16/16096)...	-	Apr 26, 2021 (155)
88	8.3KJPN Submission ignored due to conflicting rows: Row 53522470 (NC_000009.11:133940426::AAA 97/16096) Row 53522471 (NC_000009.11:133940426::A 52/16096) Row 53522472 (NC_000009.11:133940426::AAAAA 16/16096)...	-	Apr 26, 2021 (155)
89	8.3KJPN Submission ignored due to conflicting rows: Row 53522470 (NC_000009.11:133940426::AAA 97/16096) Row 53522471 (NC_000009.11:133940426::A 52/16096) Row 53522472 (NC_000009.11:133940426::AAAAA 16/16096)...	-	Apr 26, 2021 (155)
90	8.3KJPN Submission ignored due to conflicting rows: Row 53522470 (NC_000009.11:133940426::AAA 97/16096) Row 53522471 (NC_000009.11:133940426::A 52/16096) Row 53522472 (NC_000009.11:133940426::AAAAA 16/16096)...	-	Apr 26, 2021 (155)
91	14KJPN Submission ignored due to conflicting rows: Row 74005609 (NC_000009.12:131065039::A 58/25726) Row 74005610 (NC_000009.12:131065039:A: 40/25726) Row 74005611 (NC_000009.12:131065039::AAAAA 18/25726)...	-	Oct 16, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 74005609 (NC_000009.12:131065039::A 58/25726) Row 74005610 (NC_000009.12:131065039:A: 40/25726) Row 74005611 (NC_000009.12:131065039::AAAAA 18/25726)...	-	Oct 16, 2022 (156)
93	14KJPN Submission ignored due to conflicting rows: Row 74005609 (NC_000009.12:131065039::A 58/25726) Row 74005610 (NC_000009.12:131065039:A: 40/25726) Row 74005611 (NC_000009.12:131065039::AAAAA 18/25726)...	-	Oct 16, 2022 (156)
94	14KJPN Submission ignored due to conflicting rows: Row 74005609 (NC_000009.12:131065039::A 58/25726) Row 74005610 (NC_000009.12:131065039:A: 40/25726) Row 74005611 (NC_000009.12:131065039::AAAAA 18/25726)...	-	Oct 16, 2022 (156)
95	14KJPN Submission ignored due to conflicting rows: Row 74005609 (NC_000009.12:131065039::A 58/25726) Row 74005610 (NC_000009.12:131065039:A: 40/25726) Row 74005611 (NC_000009.12:131065039::AAAAA 18/25726)...	-	Oct 16, 2022 (156)
96	14KJPN Submission ignored due to conflicting rows: Row 74005609 (NC_000009.12:131065039::A 58/25726) Row 74005610 (NC_000009.12:131065039:A: 40/25726) Row 74005611 (NC_000009.12:131065039::AAAAA 18/25726)...	-	Oct 16, 2022 (156)
97	TopMed Submission ignored due to conflicting rows: Row 674914384 (NC_000009.12:131065039:AAAAAA: 1/264690) Row 674914385 (NC_000009.12:131065039:AAAAAAA: 32/264690) Row 674914386 (NC_000009.12:131065039:AAAAAAAAAAA: 2/264690)	-	Apr 26, 2021 (155)
98	TopMed Submission ignored due to conflicting rows: Row 674914384 (NC_000009.12:131065039:AAAAAA: 1/264690) Row 674914385 (NC_000009.12:131065039:AAAAAAA: 32/264690) Row 674914386 (NC_000009.12:131065039:AAAAAAAAAAA: 2/264690)	-	Apr 26, 2021 (155)
99	TopMed Submission ignored due to conflicting rows: Row 674914384 (NC_000009.12:131065039:AAAAAA: 1/264690) Row 674914385 (NC_000009.12:131065039:AAAAAAA: 32/264690) Row 674914386 (NC_000009.12:131065039:AAAAAAAAAAA: 2/264690)	-	Apr 26, 2021 (155)
100	UK 10K study - Twins Submission ignored due to conflicting rows: Row 26676118 (NC_000009.11:133940426::AA 2639/3708) Row 26676119 (NC_000009.11:133940426::AAA 730/3708)	-	Oct 12, 2018 (152)
101	UK 10K study - Twins Submission ignored due to conflicting rows: Row 26676118 (NC_000009.11:133940426::AA 2639/3708) Row 26676119 (NC_000009.11:133940426::AAA 730/3708)	-	Oct 12, 2018 (152)
102	ALFA	NC_000009.12 - 131065040	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
ss4210384589, ss4837536825	NC_000009.12:131065039:AAAAAAAAAAA:	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4210384588	NC_000009.12:131065039:AAAAAAAAA:	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3005681597	NC_000009.11:133940426:AAAAAAA:	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4210384587, ss4837536824	NC_000009.12:131065039:AAAAAAA:	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4837536823	NC_000009.12:131065039:AAAAAA:	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4210384586	NC_000009.12:131065039:AAAAA:	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4210384585, ss5740168510	NC_000009.12:131065039:AAAA:	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4210384584	NC_000009.12:131065039:AAA:	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4210384583	NC_000009.12:131065039:AA:	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3791733825, ss5195553166	NC_000009.11:133940426:A:	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3724862569, ss3966872428, ss5282370161, ss5478218948, ss5740168506	NC_000009.12:131065039:A:	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5195553164	NC_000009.11:133940426::A	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4210384574, ss5282370164, ss5478218949, ss5740168505	NC_000009.12:131065039::A	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3724862568, ss3966872429	NC_000009.12:131065040::A	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss1706580981, ss1706580998	NC_000009.11:133940426::AA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210384575	NC_000009.12:131065039::AA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3724862567, ss3966872430	NC_000009.12:131065040::AA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss1706580983, ss1706580999, ss5195553163	NC_000009.11:133940426::AAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210384576, ss5282370162, ss5478218951, ss5740168509	NC_000009.12:131065039::AAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3724862566, ss3966872431	NC_000009.12:131065040::AAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210384577, ss5478218952	NC_000009.12:131065039::AAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3831886512, ss5195553165	NC_000009.11:133940426::AAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5282370160, ss5478218950, ss5740168507	NC_000009.12:131065039::AAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3966872432	NC_000009.12:131065040::AAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5195553168	NC_000009.11:133940426::AAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5282370163, ss5478218953, ss5740168508	NC_000009.12:131065039::AAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3966872433	NC_000009.12:131065040::AAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210384578	NC_000009.12:131065039::AAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
916123591	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210384579	NC_000009.12:131065039::AAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210384580	NC_000009.12:131065039::AAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210384581	NC_000009.12:131065039::AAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5195553167	NC_000009.11:133940426::AAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4210384582	NC_000009.12:131065039::AAAAAAAAAAA	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3602001367	NC_000009.12:131065039:AAAAAAAA:	NC_000009.12:131065039:AAAAAAAAAAA… NC_000009.12:131065039:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs754104539

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs754104539