Name: rs112731126
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.

rs112731126

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:205383950-205383966 (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: delTTT / delTT / delT / dupT / dup…
delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₇ / dup(T)₈ / ins(T)₂₂
Variation Type: Indel Insertion and Deletion
Frequency: dupTT=0.02288 (298/13026, ALFA)
delT=0.2348 (1176/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LEMD1 : Intron Variant
LEMD1-AS1 : 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	13026	TTTTTTTTTTTTTTTTT=0.97206	TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00015, TTTTTTTTTTTTTTTTTT=0.00338, TTTTTTTTTTTTTTTTTTT=0.02288, TTTTTTTTTTTTTTTTTTTT=0.00154, TTTTTTTTTTTTTTTTTTTTT=0.00000	0.958282	0.003722	0.037996	32
European	Sub	10292	TTTTTTTTTTTTTTTTT=0.96463	TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00019, TTTTTTTTTTTTTTTTTT=0.00428, TTTTTTTTTTTTTTTTTTT=0.02895, TTTTTTTTTTTTTTTTTTTT=0.00194, TTTTTTTTTTTTTTTTTTTTT=0.00000	0.947058	0.004723	0.048219	32
African	Sub	1620	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	52	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1568	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	72	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	64	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	8	TTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	118	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	500	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	74	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	350	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=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
Allele Frequency Aggregator	Total	Global	13026	(T)₁₇=0.97206	delTTT=0.00000, delTT=0.00000, delT=0.00015, dupT=0.00338, dupTT=0.02288, dupTTT=0.00154, dup(T)₄=0.00000
Allele Frequency Aggregator	European	Sub	10292	(T)₁₇=0.96463	delTTT=0.00000, delTT=0.00000, delT=0.00019, dupT=0.00428, dupTT=0.02895, dupTTT=0.00194, dup(T)₄=0.00000
Allele Frequency Aggregator	African	Sub	1620	(T)₁₇=1.0000	delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	500	(T)₁₇=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Other	Sub	350	(T)₁₇=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	118	(T)₁₇=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	South Asian	Sub	74	(T)₁₇=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	Asian	Sub	72	(T)₁₇=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₇=0.7652	delT=0.2348
1000Genomes	African	Sub	1322	(T)₁₇=0.7005	delT=0.2995
1000Genomes	East Asian	Sub	1008	(T)₁₇=0.8115	delT=0.1885
1000Genomes	Europe	Sub	1006	(T)₁₇=0.7873	delT=0.2127
1000Genomes	South Asian	Sub	978	(T)₁₇=0.809	delT=0.191
1000Genomes	American	Sub	694	(T)₁₇=0.728	delT=0.272

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 1	NC_000001.11:g.205383964_205383966del
GRCh38.p14 chr 1	NC_000001.11:g.205383965_205383966del
GRCh38.p14 chr 1	NC_000001.11:g.205383966del
GRCh38.p14 chr 1	NC_000001.11:g.205383966dup
GRCh38.p14 chr 1	NC_000001.11:g.205383965_205383966dup
GRCh38.p14 chr 1	NC_000001.11:g.205383964_205383966dup
GRCh38.p14 chr 1	NC_000001.11:g.205383963_205383966dup
GRCh38.p14 chr 1	NC_000001.11:g.205383960_205383966dup
GRCh38.p14 chr 1	NC_000001.11:g.205383959_205383966dup
GRCh38.p14 chr 1	NC_000001.11:g.205383966_205383967insTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.205353092_205353094del
GRCh37.p13 chr 1	NC_000001.10:g.205353093_205353094del
GRCh37.p13 chr 1	NC_000001.10:g.205353094del
GRCh37.p13 chr 1	NC_000001.10:g.205353094dup
GRCh37.p13 chr 1	NC_000001.10:g.205353093_205353094dup
GRCh37.p13 chr 1	NC_000001.10:g.205353092_205353094dup
GRCh37.p13 chr 1	NC_000001.10:g.205353091_205353094dup
GRCh37.p13 chr 1	NC_000001.10:g.205353088_205353094dup
GRCh37.p13 chr 1	NC_000001.10:g.205353087_205353094dup
GRCh37.p13 chr 1	NC_000001.10:g.205353094_205353095insTTTTTTTTTTTTTTTTTTTTTT

Gene: LEMD1, LEM domain containing 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LEMD1 transcript variant 3	NM_001001552.5:c.206-2096… NM_001001552.5:c.206-2096_206-2094del	N/A	Intron Variant
LEMD1 transcript variant 1	NM_001199050.2:c.347+336_… NM_001199050.2:c.347+336_347+338del	N/A	Intron Variant
LEMD1 transcript variant 2	NM_001199051.2:c.224+336_… NM_001199051.2:c.224+336_224+338del	N/A	Intron Variant
LEMD1 transcript variant 4	NM_001199052.2:c.83-2096_… NM_001199052.2:c.83-2096_83-2094del	N/A	Intron Variant
LEMD1 transcript variant 5	NR_037583.2:n.	N/A	Intron Variant
LEMD1 transcript variant X1	XM_011510160.3:c.431+336_… XM_011510160.3:c.431+336_431+338del	N/A	Intron Variant
LEMD1 transcript variant X2	XM_011510162.3:c.413+336_… XM_011510162.3:c.413+336_413+338del	N/A	Intron Variant
LEMD1 transcript variant X3	XM_011510163.3:c.308+336_… XM_011510163.3:c.308+336_308+338del	N/A	Intron Variant
LEMD1 transcript variant X4	XM_047434586.1:c.83-2096_… XM_047434586.1:c.83-2096_83-2094del	N/A	Intron Variant

Gene: LEMD1-AS1, LEMD1 antisense RNA 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LEMD1-AS1 transcript	NR_038425.1:n.	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)₁₇=	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₇	dup(T)₈	ins(T)₂₂
GRCh38.p14 chr 1	NC_000001.11:g.205383950_205383966=	NC_000001.11:g.205383964_205383966del	NC_000001.11:g.205383965_205383966del	NC_000001.11:g.205383966del	NC_000001.11:g.205383966dup	NC_000001.11:g.205383965_205383966dup	NC_000001.11:g.205383964_205383966dup	NC_000001.11:g.205383963_205383966dup	NC_000001.11:g.205383960_205383966dup	NC_000001.11:g.205383959_205383966dup	NC_000001.11:g.205383966_205383967insTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.205353078_205353094=	NC_000001.10:g.205353092_205353094del	NC_000001.10:g.205353093_205353094del	NC_000001.10:g.205353094del	NC_000001.10:g.205353094dup	NC_000001.10:g.205353093_205353094dup	NC_000001.10:g.205353092_205353094dup	NC_000001.10:g.205353091_205353094dup	NC_000001.10:g.205353088_205353094dup	NC_000001.10:g.205353087_205353094dup	NC_000001.10:g.205353094_205353095insTTTTTTTTTTTTTTTTTTTTTT
LEMD1 transcript variant 3	NM_001001552.4:c.206-2094=	NM_001001552.4:c.206-2096_206-2094del	NM_001001552.4:c.206-2095_206-2094del	NM_001001552.4:c.206-2094del	NM_001001552.4:c.206-2094dup	NM_001001552.4:c.206-2095_206-2094dup	NM_001001552.4:c.206-2096_206-2094dup	NM_001001552.4:c.206-2097_206-2094dup	NM_001001552.4:c.206-2100_206-2094dup	NM_001001552.4:c.206-2101_206-2094dup	NM_001001552.4:c.206-2094_206-2093insAAAAAAAAAAAAAAAAAAAAAA
LEMD1 transcript variant 3	NM_001001552.5:c.206-2094=	NM_001001552.5:c.206-2096_206-2094del	NM_001001552.5:c.206-2095_206-2094del	NM_001001552.5:c.206-2094del	NM_001001552.5:c.206-2094dup	NM_001001552.5:c.206-2095_206-2094dup	NM_001001552.5:c.206-2096_206-2094dup	NM_001001552.5:c.206-2097_206-2094dup	NM_001001552.5:c.206-2100_206-2094dup	NM_001001552.5:c.206-2101_206-2094dup	NM_001001552.5:c.206-2094_206-2093insAAAAAAAAAAAAAAAAAAAAAA
LEMD1 transcript variant 1	NM_001199050.1:c.347+338=	NM_001199050.1:c.347+336_347+338del	NM_001199050.1:c.347+337_347+338del	NM_001199050.1:c.347+338del	NM_001199050.1:c.347+338dup	NM_001199050.1:c.347+337_347+338dup	NM_001199050.1:c.347+336_347+338dup	NM_001199050.1:c.347+335_347+338dup	NM_001199050.1:c.347+332_347+338dup	NM_001199050.1:c.347+331_347+338dup	NM_001199050.1:c.347+338_347+339insAAAAAAAAAAAAAAAAAAAAAA
LEMD1 transcript variant 1	NM_001199050.2:c.347+338=	NM_001199050.2:c.347+336_347+338del	NM_001199050.2:c.347+337_347+338del	NM_001199050.2:c.347+338del	NM_001199050.2:c.347+338dup	NM_001199050.2:c.347+337_347+338dup	NM_001199050.2:c.347+336_347+338dup	NM_001199050.2:c.347+335_347+338dup	NM_001199050.2:c.347+332_347+338dup	NM_001199050.2:c.347+331_347+338dup	NM_001199050.2:c.347+338_347+339insAAAAAAAAAAAAAAAAAAAAAA
LEMD1 transcript variant 2	NM_001199051.1:c.224+338=	NM_001199051.1:c.224+336_224+338del	NM_001199051.1:c.224+337_224+338del	NM_001199051.1:c.224+338del	NM_001199051.1:c.224+338dup	NM_001199051.1:c.224+337_224+338dup	NM_001199051.1:c.224+336_224+338dup	NM_001199051.1:c.224+335_224+338dup	NM_001199051.1:c.224+332_224+338dup	NM_001199051.1:c.224+331_224+338dup	NM_001199051.1:c.224+338_224+339insAAAAAAAAAAAAAAAAAAAAAA
LEMD1 transcript variant 2	NM_001199051.2:c.224+338=	NM_001199051.2:c.224+336_224+338del	NM_001199051.2:c.224+337_224+338del	NM_001199051.2:c.224+338del	NM_001199051.2:c.224+338dup	NM_001199051.2:c.224+337_224+338dup	NM_001199051.2:c.224+336_224+338dup	NM_001199051.2:c.224+335_224+338dup	NM_001199051.2:c.224+332_224+338dup	NM_001199051.2:c.224+331_224+338dup	NM_001199051.2:c.224+338_224+339insAAAAAAAAAAAAAAAAAAAAAA
LEMD1 transcript variant 4	NM_001199052.1:c.83-2094=	NM_001199052.1:c.83-2096_83-2094del	NM_001199052.1:c.83-2095_83-2094del	NM_001199052.1:c.83-2094del	NM_001199052.1:c.83-2094dup	NM_001199052.1:c.83-2095_83-2094dup	NM_001199052.1:c.83-2096_83-2094dup	NM_001199052.1:c.83-2097_83-2094dup	NM_001199052.1:c.83-2100_83-2094dup	NM_001199052.1:c.83-2101_83-2094dup	NM_001199052.1:c.83-2094_83-2093insAAAAAAAAAAAAAAAAAAAAAA
LEMD1 transcript variant 4	NM_001199052.2:c.83-2094=	NM_001199052.2:c.83-2096_83-2094del	NM_001199052.2:c.83-2095_83-2094del	NM_001199052.2:c.83-2094del	NM_001199052.2:c.83-2094dup	NM_001199052.2:c.83-2095_83-2094dup	NM_001199052.2:c.83-2096_83-2094dup	NM_001199052.2:c.83-2097_83-2094dup	NM_001199052.2:c.83-2100_83-2094dup	NM_001199052.2:c.83-2101_83-2094dup	NM_001199052.2:c.83-2094_83-2093insAAAAAAAAAAAAAAAAAAAAAA
LEMD1 transcript variant X1	XM_011510160.3:c.431+338=	XM_011510160.3:c.431+336_431+338del	XM_011510160.3:c.431+337_431+338del	XM_011510160.3:c.431+338del	XM_011510160.3:c.431+338dup	XM_011510160.3:c.431+337_431+338dup	XM_011510160.3:c.431+336_431+338dup	XM_011510160.3:c.431+335_431+338dup	XM_011510160.3:c.431+332_431+338dup	XM_011510160.3:c.431+331_431+338dup	XM_011510160.3:c.431+338_431+339insAAAAAAAAAAAAAAAAAAAAAA
LEMD1 transcript variant X2	XM_011510162.3:c.413+338=	XM_011510162.3:c.413+336_413+338del	XM_011510162.3:c.413+337_413+338del	XM_011510162.3:c.413+338del	XM_011510162.3:c.413+338dup	XM_011510162.3:c.413+337_413+338dup	XM_011510162.3:c.413+336_413+338dup	XM_011510162.3:c.413+335_413+338dup	XM_011510162.3:c.413+332_413+338dup	XM_011510162.3:c.413+331_413+338dup	XM_011510162.3:c.413+338_413+339insAAAAAAAAAAAAAAAAAAAAAA
LEMD1 transcript variant X3	XM_011510163.3:c.308+338=	XM_011510163.3:c.308+336_308+338del	XM_011510163.3:c.308+337_308+338del	XM_011510163.3:c.308+338del	XM_011510163.3:c.308+338dup	XM_011510163.3:c.308+337_308+338dup	XM_011510163.3:c.308+336_308+338dup	XM_011510163.3:c.308+335_308+338dup	XM_011510163.3:c.308+332_308+338dup	XM_011510163.3:c.308+331_308+338dup	XM_011510163.3:c.308+338_308+339insAAAAAAAAAAAAAAAAAAAAAA
LEMD1 transcript variant X4	XM_047434586.1:c.83-2094=	XM_047434586.1:c.83-2096_83-2094del	XM_047434586.1:c.83-2095_83-2094del	XM_047434586.1:c.83-2094del	XM_047434586.1:c.83-2094dup	XM_047434586.1:c.83-2095_83-2094dup	XM_047434586.1:c.83-2096_83-2094dup	XM_047434586.1:c.83-2097_83-2094dup	XM_047434586.1:c.83-2100_83-2094dup	XM_047434586.1:c.83-2101_83-2094dup	XM_047434586.1:c.83-2094_83-2093insAAAAAAAAAAAAAAAAAAAAAA

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#.

47 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BUSHMAN	ss193147015	Jul 04, 2010 (132)
2	GMI	ss288083082	May 04, 2012 (137)
3	SSIP	ss947038164	Aug 21, 2014 (142)
4	1000GENOMES	ss1367972745	Aug 21, 2014 (142)
5	SWEGEN	ss2988321428	Nov 08, 2017 (151)
6	EVA_DECODE	ss3688475668	Jul 12, 2019 (153)
7	EVA_DECODE	ss3688475669	Jul 12, 2019 (153)
8	EVA_DECODE	ss3688475670	Jul 12, 2019 (153)
9	EVA_DECODE	ss3688475671	Jul 12, 2019 (153)
10	EVA_DECODE	ss3688475672	Jul 12, 2019 (153)
11	EVA_DECODE	ss3688475673	Jul 12, 2019 (153)
12	ACPOP	ss3727793343	Jul 12, 2019 (153)
13	ACPOP	ss3727793344	Jul 12, 2019 (153)
14	PACBIO	ss3783667135	Jul 12, 2019 (153)
15	KHV_HUMAN_GENOMES	ss3800245183	Jul 12, 2019 (153)
16	EVA	ss3826603974	Apr 25, 2020 (154)
17	GNOMAD	ss4009890802	Apr 25, 2021 (155)
18	GNOMAD	ss4009890803	Apr 25, 2021 (155)
19	GNOMAD	ss4009890804	Apr 25, 2021 (155)
20	GNOMAD	ss4009890805	Apr 25, 2021 (155)
21	GNOMAD	ss4009890806	Apr 25, 2021 (155)
22	GNOMAD	ss4009890807	Apr 25, 2021 (155)
23	GNOMAD	ss4009890808	Apr 25, 2021 (155)
24	GNOMAD	ss4009890809	Apr 25, 2021 (155)
25	GNOMAD	ss4009890810	Apr 25, 2021 (155)
26	TOMMO_GENOMICS	ss5148078477	Apr 25, 2021 (155)
27	TOMMO_GENOMICS	ss5148078478	Apr 25, 2021 (155)
28	TOMMO_GENOMICS	ss5148078479	Apr 25, 2021 (155)
29	TOMMO_GENOMICS	ss5148078480	Apr 25, 2021 (155)
30	TOMMO_GENOMICS	ss5148078481	Apr 25, 2021 (155)
31	TOMMO_GENOMICS	ss5148078482	Apr 25, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5245523354	Oct 12, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5245523355	Oct 12, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5245523356	Oct 12, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5245523357	Oct 12, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5245523358	Oct 12, 2022 (156)
37	HUGCELL_USP	ss5445989109	Oct 12, 2022 (156)
38	HUGCELL_USP	ss5445989110	Oct 12, 2022 (156)
39	HUGCELL_USP	ss5445989111	Oct 12, 2022 (156)
40	HUGCELL_USP	ss5445989112	Oct 12, 2022 (156)
41	TOMMO_GENOMICS	ss5675736320	Oct 12, 2022 (156)
42	TOMMO_GENOMICS	ss5675736321	Oct 12, 2022 (156)
43	TOMMO_GENOMICS	ss5675736322	Oct 12, 2022 (156)
44	TOMMO_GENOMICS	ss5675736323	Oct 12, 2022 (156)
45	TOMMO_GENOMICS	ss5675736324	Oct 12, 2022 (156)
46	TOMMO_GENOMICS	ss5675736325	Oct 12, 2022 (156)
47	EVA	ss5849251315	Oct 12, 2022 (156)
48	1000Genomes	NC_000001.10 - 205353078	Oct 11, 2018 (152)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37319150 (NC_000001.11:205383949::T 7086/120122) Row 37319151 (NC_000001.11:205383949::TT 8870/120074) Row 37319152 (NC_000001.11:205383949::TTT 107/120152)...	-	Apr 25, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37319150 (NC_000001.11:205383949::T 7086/120122) Row 37319151 (NC_000001.11:205383949::TT 8870/120074) Row 37319152 (NC_000001.11:205383949::TTT 107/120152)...	-	Apr 25, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37319150 (NC_000001.11:205383949::T 7086/120122) Row 37319151 (NC_000001.11:205383949::TT 8870/120074) Row 37319152 (NC_000001.11:205383949::TTT 107/120152)...	-	Apr 25, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37319150 (NC_000001.11:205383949::T 7086/120122) Row 37319151 (NC_000001.11:205383949::TT 8870/120074) Row 37319152 (NC_000001.11:205383949::TTT 107/120152)...	-	Apr 25, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37319150 (NC_000001.11:205383949::T 7086/120122) Row 37319151 (NC_000001.11:205383949::TT 8870/120074) Row 37319152 (NC_000001.11:205383949::TTT 107/120152)...	-	Apr 25, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37319150 (NC_000001.11:205383949::T 7086/120122) Row 37319151 (NC_000001.11:205383949::TT 8870/120074) Row 37319152 (NC_000001.11:205383949::TTT 107/120152)...	-	Apr 25, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37319150 (NC_000001.11:205383949::T 7086/120122) Row 37319151 (NC_000001.11:205383949::TT 8870/120074) Row 37319152 (NC_000001.11:205383949::TTT 107/120152)...	-	Apr 25, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37319150 (NC_000001.11:205383949::T 7086/120122) Row 37319151 (NC_000001.11:205383949::TT 8870/120074) Row 37319152 (NC_000001.11:205383949::TTT 107/120152)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37319150 (NC_000001.11:205383949::T 7086/120122) Row 37319151 (NC_000001.11:205383949::TT 8870/120074) Row 37319152 (NC_000001.11:205383949::TTT 107/120152)...	-	Apr 25, 2021 (155)
58	Northern Sweden Submission ignored due to conflicting rows: Row 1078208 (NC_000001.10:205353077::TT 20/600) Row 1078209 (NC_000001.10:205353077::T 12/600)	-	Jul 12, 2019 (153)
59	Northern Sweden Submission ignored due to conflicting rows: Row 1078208 (NC_000001.10:205353077::TT 20/600) Row 1078209 (NC_000001.10:205353077::T 12/600)	-	Jul 12, 2019 (153)
60	8.3KJPN Submission ignored due to conflicting rows: Row 6047784 (NC_000001.10:205353077:T: 38/16746) Row 6047785 (NC_000001.10:205353077::TT 1582/16746) Row 6047786 (NC_000001.10:205353077::T 896/16746)...	-	Apr 25, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 6047784 (NC_000001.10:205353077:T: 38/16746) Row 6047785 (NC_000001.10:205353077::TT 1582/16746) Row 6047786 (NC_000001.10:205353077::T 896/16746)...	-	Apr 25, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 6047784 (NC_000001.10:205353077:T: 38/16746) Row 6047785 (NC_000001.10:205353077::TT 1582/16746) Row 6047786 (NC_000001.10:205353077::T 896/16746)...	-	Apr 25, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 6047784 (NC_000001.10:205353077:T: 38/16746) Row 6047785 (NC_000001.10:205353077::TT 1582/16746) Row 6047786 (NC_000001.10:205353077::T 896/16746)...	-	Apr 25, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 6047784 (NC_000001.10:205353077:T: 38/16746) Row 6047785 (NC_000001.10:205353077::TT 1582/16746) Row 6047786 (NC_000001.10:205353077::T 896/16746)...	-	Apr 25, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 6047784 (NC_000001.10:205353077:T: 38/16746) Row 6047785 (NC_000001.10:205353077::TT 1582/16746) Row 6047786 (NC_000001.10:205353077::T 896/16746)...	-	Apr 25, 2021 (155)
66	14KJPN Submission ignored due to conflicting rows: Row 9573424 (NC_000001.11:205383949::TT 2762/28256) Row 9573425 (NC_000001.11:205383949::T 1511/28256) Row 9573426 (NC_000001.11:205383949:T: 61/28256)...	-	Oct 12, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 9573424 (NC_000001.11:205383949::TT 2762/28256) Row 9573425 (NC_000001.11:205383949::T 1511/28256) Row 9573426 (NC_000001.11:205383949:T: 61/28256)...	-	Oct 12, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 9573424 (NC_000001.11:205383949::TT 2762/28256) Row 9573425 (NC_000001.11:205383949::T 1511/28256) Row 9573426 (NC_000001.11:205383949:T: 61/28256)...	-	Oct 12, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 9573424 (NC_000001.11:205383949::TT 2762/28256) Row 9573425 (NC_000001.11:205383949::T 1511/28256) Row 9573426 (NC_000001.11:205383949:T: 61/28256)...	-	Oct 12, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 9573424 (NC_000001.11:205383949::TT 2762/28256) Row 9573425 (NC_000001.11:205383949::T 1511/28256) Row 9573426 (NC_000001.11:205383949:T: 61/28256)...	-	Oct 12, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 9573424 (NC_000001.11:205383949::TT 2762/28256) Row 9573425 (NC_000001.11:205383949::T 1511/28256) Row 9573426 (NC_000001.11:205383949:T: 61/28256)...	-	Oct 12, 2022 (156)
72	ALFA	NC_000001.11 - 205383950	Apr 25, 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
ss4009890810	NC_000001.11:205383949:TTT:	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
8303637003	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5148078480	NC_000001.10:205353077:TT:	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3688475668, ss4009890809, ss5245523358, ss5445989112, ss5675736323	NC_000001.11:205383949:TT:	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
8303637003	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss288083082	NC_000001.9:203619700:T:	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
5181063, ss1367972745, ss2988321428, ss3783667135, ss5148078477	NC_000001.10:205353077:T:	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3800245183, ss4009890808, ss5245523355, ss5445989109, ss5675736322, ss5849251315	NC_000001.11:205383949:T:	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
8303637003	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3688475669	NC_000001.11:205383950:T:	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss193147015	NT_004487.20:62199362:T:	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3727793344, ss3826603974, ss5148078479	NC_000001.10:205353077::T	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4009890802, ss5245523356, ss5445989110, ss5675736321	NC_000001.11:205383949::T	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
8303637003	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3688475670	NC_000001.11:205383951::T	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3727793343, ss5148078478	NC_000001.10:205353077::TT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss947038164	NC_000001.10:205353078::TT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4009890803, ss5245523354, ss5445989111, ss5675736320	NC_000001.11:205383949::TT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
8303637003	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3688475671	NC_000001.11:205383951::TT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5148078481	NC_000001.10:205353077::TTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4009890804, ss5245523357, ss5675736324	NC_000001.11:205383949::TTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
8303637003	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3688475672	NC_000001.11:205383951::TTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4009890805	NC_000001.11:205383949::TTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
8303637003	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4009890806	NC_000001.11:205383949::TTTTTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3688475673	NC_000001.11:205383951::TTTTTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4009890807	NC_000001.11:205383949::TTTTTTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5148078482	NC_000001.10:205353077::TTTTTTTTTT… NC_000001.10:205353077::TTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5675736325	NC_000001.11:205383949::TTTTTTTTTT… NC_000001.11:205383949::TTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:205383949:TTTTTTTTTTT… NC_000001.11:205383949:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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

No publications for rs112731126

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

rs112731126