Name: rs61254122
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.

rs61254122

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:127656416-127656432 (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)₆ / del(T)₅ / del(T)₄ / delT…
del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₄=0.0000 (0/8848, ALFA)
delTT=0.0000 (0/8848, ALFA)
delT=0.0000 (0/8848, ALFA) (+ 6 more)
dupT=0.0000 (0/8848, ALFA)
dupTT=0.0000 (0/8848, ALFA)
dupTTT=0.0000 (0/8848, ALFA)
dup(T)₄=0.0000 (0/8848, ALFA)
dup(T)₅=0.0000 (0/8848, ALFA)
delT=0.037 (22/598, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LIMS2 : 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	HWEP
Total	Global	8848	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
European	Sub	5578	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	2228	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	96	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	2132	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	64	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	50	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	14	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	100	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 2	Sub	492	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	44	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	342	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	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	8848	(T)₁₇=1.0000	del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	European	Sub	5578	(T)₁₇=1.0000	del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	2228	(T)₁₇=1.0000	del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	492	(T)₁₇=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Other	Sub	342	(T)₁₇=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	100	(T)₁₇=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Asian	Sub	64	(T)₁₇=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	44	(T)₁₇=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Northern Sweden	ACPOP	Study-wide	598	(T)₁₇=0.963	delT=0.037

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 2	NC_000002.12:g.127656427_127656432del
GRCh38.p14 chr 2	NC_000002.12:g.127656428_127656432del
GRCh38.p14 chr 2	NC_000002.12:g.127656429_127656432del
GRCh38.p14 chr 2	NC_000002.12:g.127656430_127656432del
GRCh38.p14 chr 2	NC_000002.12:g.127656431_127656432del
GRCh38.p14 chr 2	NC_000002.12:g.127656432del
GRCh38.p14 chr 2	NC_000002.12:g.127656432dup
GRCh38.p14 chr 2	NC_000002.12:g.127656431_127656432dup
GRCh38.p14 chr 2	NC_000002.12:g.127656430_127656432dup
GRCh38.p14 chr 2	NC_000002.12:g.127656429_127656432dup
GRCh38.p14 chr 2	NC_000002.12:g.127656428_127656432dup
GRCh37.p13 chr 2	NC_000002.11:g.128414001_128414006del
GRCh37.p13 chr 2	NC_000002.11:g.128414002_128414006del
GRCh37.p13 chr 2	NC_000002.11:g.128414003_128414006del
GRCh37.p13 chr 2	NC_000002.11:g.128414004_128414006del
GRCh37.p13 chr 2	NC_000002.11:g.128414005_128414006del
GRCh37.p13 chr 2	NC_000002.11:g.128414006del
GRCh37.p13 chr 2	NC_000002.11:g.128414006dup
GRCh37.p13 chr 2	NC_000002.11:g.128414005_128414006dup
GRCh37.p13 chr 2	NC_000002.11:g.128414004_128414006dup
GRCh37.p13 chr 2	NC_000002.11:g.128414003_128414006dup
GRCh37.p13 chr 2	NC_000002.11:g.128414002_128414006dup
LIMS2 RefSeqGene	NG_042235.1:g.30366_30371del
LIMS2 RefSeqGene	NG_042235.1:g.30367_30371del
LIMS2 RefSeqGene	NG_042235.1:g.30368_30371del
LIMS2 RefSeqGene	NG_042235.1:g.30369_30371del
LIMS2 RefSeqGene	NG_042235.1:g.30370_30371del
LIMS2 RefSeqGene	NG_042235.1:g.30371del
LIMS2 RefSeqGene	NG_042235.1:g.30371dup
LIMS2 RefSeqGene	NG_042235.1:g.30370_30371dup
LIMS2 RefSeqGene	NG_042235.1:g.30369_30371dup
LIMS2 RefSeqGene	NG_042235.1:g.30368_30371dup
LIMS2 RefSeqGene	NG_042235.1:g.30367_30371dup

Gene: LIMS2, LIM zinc finger domain containing 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LIMS2 transcript variant 1	NM_001136037.4:c.237+982_… NM_001136037.4:c.237+982_237+987del	N/A	Intron Variant
LIMS2 transcript variant 3	NM_001161403.3:c.171+982_… NM_001161403.3:c.171+982_171+987del	N/A	Intron Variant
LIMS2 transcript variant 5	NM_001161404.2:c.156+982_… NM_001161404.2:c.156+982_156+987del	N/A	Intron Variant
LIMS2 transcript variant 2	NM_017980.5:c.243+982_243… NM_017980.5:c.243+982_243+987del	N/A	Intron Variant
LIMS2 transcript variant 4	NM_001256542.2:c.	N/A	Genic Upstream Transcript Variant
LIMS2 transcript variant X6	XM_005263710.3:c.-36-1525… XM_005263710.3:c.-36-1525_-36-1520del	N/A	Intron Variant
LIMS2 transcript variant X9	XM_006712627.5:c.12-13349… XM_006712627.5:c.12-13349_12-13344del	N/A	Intron Variant
LIMS2 transcript variant X10	XM_006712628.4:c.243+982_… XM_006712628.4:c.243+982_243+987del	N/A	Intron Variant
LIMS2 transcript variant X3	XM_011511453.2:c.243+982_… XM_011511453.2:c.243+982_243+987del	N/A	Intron Variant
LIMS2 transcript variant X2	XM_024452983.2:c.156+982_… XM_024452983.2:c.156+982_156+987del	N/A	Intron Variant
LIMS2 transcript variant X1	XM_047444963.1:c.228+982_… XM_047444963.1:c.228+982_228+987del	N/A	Intron Variant
LIMS2 transcript variant X4	XM_047444970.1:c.171+982_… XM_047444970.1:c.171+982_171+987del	N/A	Intron Variant
LIMS2 transcript variant X5	XM_047444971.1:c.243+982_… XM_047444971.1:c.243+982_243+987del	N/A	Intron Variant
LIMS2 transcript variant X8	XM_017004469.2:c.	N/A	Genic Upstream Transcript Variant
LIMS2 transcript variant X13	XM_024452985.2:c.	N/A	Genic Upstream Transcript Variant
LIMS2 transcript variant X14	XM_024452986.2:c.	N/A	Genic Upstream Transcript Variant
LIMS2 transcript variant X7	XM_047444972.1:c.	N/A	Genic Upstream Transcript Variant
LIMS2 transcript variant X11	XM_047444975.1:c.	N/A	Genic Upstream Transcript Variant
LIMS2 transcript variant X12	XM_047444976.1:c.	N/A	Genic Upstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	(T)₁₇=	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅
GRCh38.p14 chr 2	NC_000002.12:g.127656416_127656432=	NC_000002.12:g.127656427_127656432del	NC_000002.12:g.127656428_127656432del	NC_000002.12:g.127656429_127656432del	NC_000002.12:g.127656430_127656432del	NC_000002.12:g.127656431_127656432del	NC_000002.12:g.127656432del	NC_000002.12:g.127656432dup	NC_000002.12:g.127656431_127656432dup	NC_000002.12:g.127656430_127656432dup	NC_000002.12:g.127656429_127656432dup	NC_000002.12:g.127656428_127656432dup
GRCh37.p13 chr 2	NC_000002.11:g.128413990_128414006=	NC_000002.11:g.128414001_128414006del	NC_000002.11:g.128414002_128414006del	NC_000002.11:g.128414003_128414006del	NC_000002.11:g.128414004_128414006del	NC_000002.11:g.128414005_128414006del	NC_000002.11:g.128414006del	NC_000002.11:g.128414006dup	NC_000002.11:g.128414005_128414006dup	NC_000002.11:g.128414004_128414006dup	NC_000002.11:g.128414003_128414006dup	NC_000002.11:g.128414002_128414006dup
LIMS2 RefSeqGene	NG_042235.1:g.30355_30371=	NG_042235.1:g.30366_30371del	NG_042235.1:g.30367_30371del	NG_042235.1:g.30368_30371del	NG_042235.1:g.30369_30371del	NG_042235.1:g.30370_30371del	NG_042235.1:g.30371del	NG_042235.1:g.30371dup	NG_042235.1:g.30370_30371dup	NG_042235.1:g.30369_30371dup	NG_042235.1:g.30368_30371dup	NG_042235.1:g.30367_30371dup
LIMS2 transcript variant 1	NM_001136037.2:c.237+987=	NM_001136037.2:c.237+982_237+987del	NM_001136037.2:c.237+983_237+987del	NM_001136037.2:c.237+984_237+987del	NM_001136037.2:c.237+985_237+987del	NM_001136037.2:c.237+986_237+987del	NM_001136037.2:c.237+987del	NM_001136037.2:c.237+987dup	NM_001136037.2:c.237+986_237+987dup	NM_001136037.2:c.237+985_237+987dup	NM_001136037.2:c.237+984_237+987dup	NM_001136037.2:c.237+983_237+987dup
LIMS2 transcript variant 1	NM_001136037.4:c.237+987=	NM_001136037.4:c.237+982_237+987del	NM_001136037.4:c.237+983_237+987del	NM_001136037.4:c.237+984_237+987del	NM_001136037.4:c.237+985_237+987del	NM_001136037.4:c.237+986_237+987del	NM_001136037.4:c.237+987del	NM_001136037.4:c.237+987dup	NM_001136037.4:c.237+986_237+987dup	NM_001136037.4:c.237+985_237+987dup	NM_001136037.4:c.237+984_237+987dup	NM_001136037.4:c.237+983_237+987dup
LIMS2 transcript variant 3	NM_001161403.1:c.171+987=	NM_001161403.1:c.171+982_171+987del	NM_001161403.1:c.171+983_171+987del	NM_001161403.1:c.171+984_171+987del	NM_001161403.1:c.171+985_171+987del	NM_001161403.1:c.171+986_171+987del	NM_001161403.1:c.171+987del	NM_001161403.1:c.171+987dup	NM_001161403.1:c.171+986_171+987dup	NM_001161403.1:c.171+985_171+987dup	NM_001161403.1:c.171+984_171+987dup	NM_001161403.1:c.171+983_171+987dup
LIMS2 transcript variant 3	NM_001161403.3:c.171+987=	NM_001161403.3:c.171+982_171+987del	NM_001161403.3:c.171+983_171+987del	NM_001161403.3:c.171+984_171+987del	NM_001161403.3:c.171+985_171+987del	NM_001161403.3:c.171+986_171+987del	NM_001161403.3:c.171+987del	NM_001161403.3:c.171+987dup	NM_001161403.3:c.171+986_171+987dup	NM_001161403.3:c.171+985_171+987dup	NM_001161403.3:c.171+984_171+987dup	NM_001161403.3:c.171+983_171+987dup
LIMS2 transcript variant 5	NM_001161404.1:c.156+987=	NM_001161404.1:c.156+982_156+987del	NM_001161404.1:c.156+983_156+987del	NM_001161404.1:c.156+984_156+987del	NM_001161404.1:c.156+985_156+987del	NM_001161404.1:c.156+986_156+987del	NM_001161404.1:c.156+987del	NM_001161404.1:c.156+987dup	NM_001161404.1:c.156+986_156+987dup	NM_001161404.1:c.156+985_156+987dup	NM_001161404.1:c.156+984_156+987dup	NM_001161404.1:c.156+983_156+987dup
LIMS2 transcript variant 5	NM_001161404.2:c.156+987=	NM_001161404.2:c.156+982_156+987del	NM_001161404.2:c.156+983_156+987del	NM_001161404.2:c.156+984_156+987del	NM_001161404.2:c.156+985_156+987del	NM_001161404.2:c.156+986_156+987del	NM_001161404.2:c.156+987del	NM_001161404.2:c.156+987dup	NM_001161404.2:c.156+986_156+987dup	NM_001161404.2:c.156+985_156+987dup	NM_001161404.2:c.156+984_156+987dup	NM_001161404.2:c.156+983_156+987dup
LIMS2 transcript variant 2	NM_017980.4:c.243+987=	NM_017980.4:c.243+982_243+987del	NM_017980.4:c.243+983_243+987del	NM_017980.4:c.243+984_243+987del	NM_017980.4:c.243+985_243+987del	NM_017980.4:c.243+986_243+987del	NM_017980.4:c.243+987del	NM_017980.4:c.243+987dup	NM_017980.4:c.243+986_243+987dup	NM_017980.4:c.243+985_243+987dup	NM_017980.4:c.243+984_243+987dup	NM_017980.4:c.243+983_243+987dup
LIMS2 transcript variant 2	NM_017980.5:c.243+987=	NM_017980.5:c.243+982_243+987del	NM_017980.5:c.243+983_243+987del	NM_017980.5:c.243+984_243+987del	NM_017980.5:c.243+985_243+987del	NM_017980.5:c.243+986_243+987del	NM_017980.5:c.243+987del	NM_017980.5:c.243+987dup	NM_017980.5:c.243+986_243+987dup	NM_017980.5:c.243+985_243+987dup	NM_017980.5:c.243+984_243+987dup	NM_017980.5:c.243+983_243+987dup
LIMS2 transcript variant X1	XM_005263709.1:c.156+987=	XM_005263709.1:c.156+982_156+987del	XM_005263709.1:c.156+983_156+987del	XM_005263709.1:c.156+984_156+987del	XM_005263709.1:c.156+985_156+987del	XM_005263709.1:c.156+986_156+987del	XM_005263709.1:c.156+987del	XM_005263709.1:c.156+987dup	XM_005263709.1:c.156+986_156+987dup	XM_005263709.1:c.156+985_156+987dup	XM_005263709.1:c.156+984_156+987dup	XM_005263709.1:c.156+983_156+987dup
LIMS2 transcript variant X2	XM_005263710.1:c.-36-1520=	XM_005263710.1:c.-36-1525_-36-1520del	XM_005263710.1:c.-36-1524_-36-1520del	XM_005263710.1:c.-36-1523_-36-1520del	XM_005263710.1:c.-36-1522_-36-1520del	XM_005263710.1:c.-36-1521_-36-1520del	XM_005263710.1:c.-36-1520del	XM_005263710.1:c.-36-1520dup	XM_005263710.1:c.-36-1521_-36-1520dup	XM_005263710.1:c.-36-1522_-36-1520dup	XM_005263710.1:c.-36-1523_-36-1520dup	XM_005263710.1:c.-36-1524_-36-1520dup
LIMS2 transcript variant X6	XM_005263710.3:c.-36-1520=	XM_005263710.3:c.-36-1525_-36-1520del	XM_005263710.3:c.-36-1524_-36-1520del	XM_005263710.3:c.-36-1523_-36-1520del	XM_005263710.3:c.-36-1522_-36-1520del	XM_005263710.3:c.-36-1521_-36-1520del	XM_005263710.3:c.-36-1520del	XM_005263710.3:c.-36-1520dup	XM_005263710.3:c.-36-1521_-36-1520dup	XM_005263710.3:c.-36-1522_-36-1520dup	XM_005263710.3:c.-36-1523_-36-1520dup	XM_005263710.3:c.-36-1524_-36-1520dup
LIMS2 transcript variant X9	XM_006712627.5:c.12-13344=	XM_006712627.5:c.12-13349_12-13344del	XM_006712627.5:c.12-13348_12-13344del	XM_006712627.5:c.12-13347_12-13344del	XM_006712627.5:c.12-13346_12-13344del	XM_006712627.5:c.12-13345_12-13344del	XM_006712627.5:c.12-13344del	XM_006712627.5:c.12-13344dup	XM_006712627.5:c.12-13345_12-13344dup	XM_006712627.5:c.12-13346_12-13344dup	XM_006712627.5:c.12-13347_12-13344dup	XM_006712627.5:c.12-13348_12-13344dup
LIMS2 transcript variant X10	XM_006712628.4:c.243+987=	XM_006712628.4:c.243+982_243+987del	XM_006712628.4:c.243+983_243+987del	XM_006712628.4:c.243+984_243+987del	XM_006712628.4:c.243+985_243+987del	XM_006712628.4:c.243+986_243+987del	XM_006712628.4:c.243+987del	XM_006712628.4:c.243+987dup	XM_006712628.4:c.243+986_243+987dup	XM_006712628.4:c.243+985_243+987dup	XM_006712628.4:c.243+984_243+987dup	XM_006712628.4:c.243+983_243+987dup
LIMS2 transcript variant X3	XM_011511453.2:c.243+987=	XM_011511453.2:c.243+982_243+987del	XM_011511453.2:c.243+983_243+987del	XM_011511453.2:c.243+984_243+987del	XM_011511453.2:c.243+985_243+987del	XM_011511453.2:c.243+986_243+987del	XM_011511453.2:c.243+987del	XM_011511453.2:c.243+987dup	XM_011511453.2:c.243+986_243+987dup	XM_011511453.2:c.243+985_243+987dup	XM_011511453.2:c.243+984_243+987dup	XM_011511453.2:c.243+983_243+987dup
LIMS2 transcript variant X2	XM_024452983.2:c.156+987=	XM_024452983.2:c.156+982_156+987del	XM_024452983.2:c.156+983_156+987del	XM_024452983.2:c.156+984_156+987del	XM_024452983.2:c.156+985_156+987del	XM_024452983.2:c.156+986_156+987del	XM_024452983.2:c.156+987del	XM_024452983.2:c.156+987dup	XM_024452983.2:c.156+986_156+987dup	XM_024452983.2:c.156+985_156+987dup	XM_024452983.2:c.156+984_156+987dup	XM_024452983.2:c.156+983_156+987dup
LIMS2 transcript variant X1	XM_047444963.1:c.228+987=	XM_047444963.1:c.228+982_228+987del	XM_047444963.1:c.228+983_228+987del	XM_047444963.1:c.228+984_228+987del	XM_047444963.1:c.228+985_228+987del	XM_047444963.1:c.228+986_228+987del	XM_047444963.1:c.228+987del	XM_047444963.1:c.228+987dup	XM_047444963.1:c.228+986_228+987dup	XM_047444963.1:c.228+985_228+987dup	XM_047444963.1:c.228+984_228+987dup	XM_047444963.1:c.228+983_228+987dup
LIMS2 transcript variant X4	XM_047444970.1:c.171+987=	XM_047444970.1:c.171+982_171+987del	XM_047444970.1:c.171+983_171+987del	XM_047444970.1:c.171+984_171+987del	XM_047444970.1:c.171+985_171+987del	XM_047444970.1:c.171+986_171+987del	XM_047444970.1:c.171+987del	XM_047444970.1:c.171+987dup	XM_047444970.1:c.171+986_171+987dup	XM_047444970.1:c.171+985_171+987dup	XM_047444970.1:c.171+984_171+987dup	XM_047444970.1:c.171+983_171+987dup
LIMS2 transcript variant X5	XM_047444971.1:c.243+987=	XM_047444971.1:c.243+982_243+987del	XM_047444971.1:c.243+983_243+987del	XM_047444971.1:c.243+984_243+987del	XM_047444971.1:c.243+985_243+987del	XM_047444971.1:c.243+986_243+987del	XM_047444971.1:c.243+987del	XM_047444971.1:c.243+987dup	XM_047444971.1:c.243+986_243+987dup	XM_047444971.1:c.243+985_243+987dup	XM_047444971.1:c.243+984_243+987dup	XM_047444971.1:c.243+983_243+987dup

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#.

32 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80730167	Dec 16, 2007 (129)
2	SSMP	ss663233520	Apr 01, 2015 (144)
3	SWEGEN	ss2990371179	Nov 08, 2017 (151)
4	MCHAISSO	ss3064807781	Jan 10, 2018 (151)
5	ACPOP	ss3728848374	Jul 13, 2019 (153)
6	PACBIO	ss3783988918	Jul 13, 2019 (153)
7	EVA	ss3827210170	Apr 25, 2020 (154)
8	GNOMAD	ss4050337593	Apr 26, 2021 (155)
9	GNOMAD	ss4050337594	Apr 26, 2021 (155)
10	GNOMAD	ss4050337595	Apr 26, 2021 (155)
11	GNOMAD	ss4050337596	Apr 26, 2021 (155)
12	GNOMAD	ss4050337597	Apr 26, 2021 (155)
13	GNOMAD	ss4050337599	Apr 26, 2021 (155)
14	GNOMAD	ss4050337600	Apr 26, 2021 (155)
15	GNOMAD	ss4050337601	Apr 26, 2021 (155)
16	GNOMAD	ss4050337602	Apr 26, 2021 (155)
17	GNOMAD	ss4050337603	Apr 26, 2021 (155)
18	TOMMO_GENOMICS	ss5153737616	Apr 26, 2021 (155)
19	TOMMO_GENOMICS	ss5153737617	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5153737618	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5153737619	Apr 26, 2021 (155)
22	1000G_HIGH_COVERAGE	ss5249917606	Oct 12, 2022 (156)
23	1000G_HIGH_COVERAGE	ss5249917607	Oct 12, 2022 (156)
24	HUGCELL_USP	ss5449765016	Oct 12, 2022 (156)
25	HUGCELL_USP	ss5449765017	Oct 12, 2022 (156)
26	HUGCELL_USP	ss5449765018	Oct 12, 2022 (156)
27	TOMMO_GENOMICS	ss5683821688	Oct 12, 2022 (156)
28	TOMMO_GENOMICS	ss5683821689	Oct 12, 2022 (156)
29	TOMMO_GENOMICS	ss5683821690	Oct 12, 2022 (156)
30	TOMMO_GENOMICS	ss5683821691	Oct 12, 2022 (156)
31	TOMMO_GENOMICS	ss5683821692	Oct 12, 2022 (156)
32	EVA	ss5852706027	Oct 12, 2022 (156)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73065536 (NC_000002.12:127656415::T 4804/123784) Row 73065537 (NC_000002.12:127656415::TT 11/123796) Row 73065538 (NC_000002.12:127656415::TTT 2/123798)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73065536 (NC_000002.12:127656415::T 4804/123784) Row 73065537 (NC_000002.12:127656415::TT 11/123796) Row 73065538 (NC_000002.12:127656415::TTT 2/123798)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73065536 (NC_000002.12:127656415::T 4804/123784) Row 73065537 (NC_000002.12:127656415::TT 11/123796) Row 73065538 (NC_000002.12:127656415::TTT 2/123798)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73065536 (NC_000002.12:127656415::T 4804/123784) Row 73065537 (NC_000002.12:127656415::TT 11/123796) Row 73065538 (NC_000002.12:127656415::TTT 2/123798)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73065536 (NC_000002.12:127656415::T 4804/123784) Row 73065537 (NC_000002.12:127656415::TT 11/123796) Row 73065538 (NC_000002.12:127656415::TTT 2/123798)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73065536 (NC_000002.12:127656415::T 4804/123784) Row 73065537 (NC_000002.12:127656415::TT 11/123796) Row 73065538 (NC_000002.12:127656415::TTT 2/123798)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73065536 (NC_000002.12:127656415::T 4804/123784) Row 73065537 (NC_000002.12:127656415::TT 11/123796) Row 73065538 (NC_000002.12:127656415::TTT 2/123798)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73065536 (NC_000002.12:127656415::T 4804/123784) Row 73065537 (NC_000002.12:127656415::TT 11/123796) Row 73065538 (NC_000002.12:127656415::TTT 2/123798)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73065536 (NC_000002.12:127656415::T 4804/123784) Row 73065537 (NC_000002.12:127656415::TT 11/123796) Row 73065538 (NC_000002.12:127656415::TTT 2/123798)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73065536 (NC_000002.12:127656415::T 4804/123784) Row 73065537 (NC_000002.12:127656415::TT 11/123796) Row 73065538 (NC_000002.12:127656415::TTT 2/123798)...	-	Apr 26, 2021 (155)
43	Northern Sweden	NC_000002.11 - 128413990	Jul 13, 2019 (153)
44	8.3KJPN Submission ignored due to conflicting rows: Row 11706923 (NC_000002.11:128413989:T: 1733/16696) Row 11706924 (NC_000002.11:128413989::T 387/16696) Row 11706925 (NC_000002.11:128413989::TT 2/16696)...	-	Apr 26, 2021 (155)
45	8.3KJPN Submission ignored due to conflicting rows: Row 11706923 (NC_000002.11:128413989:T: 1733/16696) Row 11706924 (NC_000002.11:128413989::T 387/16696) Row 11706925 (NC_000002.11:128413989::TT 2/16696)...	-	Apr 26, 2021 (155)
46	8.3KJPN Submission ignored due to conflicting rows: Row 11706923 (NC_000002.11:128413989:T: 1733/16696) Row 11706924 (NC_000002.11:128413989::T 387/16696) Row 11706925 (NC_000002.11:128413989::TT 2/16696)...	-	Apr 26, 2021 (155)
47	8.3KJPN Submission ignored due to conflicting rows: Row 11706923 (NC_000002.11:128413989:T: 1733/16696) Row 11706924 (NC_000002.11:128413989::T 387/16696) Row 11706925 (NC_000002.11:128413989::TT 2/16696)...	-	Apr 26, 2021 (155)
48	14KJPN Submission ignored due to conflicting rows: Row 17658792 (NC_000002.12:127656415:T: 2446/25596) Row 17658793 (NC_000002.12:127656415::T 532/25596) Row 17658794 (NC_000002.12:127656415:TT: 2/25596)...	-	Oct 12, 2022 (156)
49	14KJPN Submission ignored due to conflicting rows: Row 17658792 (NC_000002.12:127656415:T: 2446/25596) Row 17658793 (NC_000002.12:127656415::T 532/25596) Row 17658794 (NC_000002.12:127656415:TT: 2/25596)...	-	Oct 12, 2022 (156)
50	14KJPN Submission ignored due to conflicting rows: Row 17658792 (NC_000002.12:127656415:T: 2446/25596) Row 17658793 (NC_000002.12:127656415::T 532/25596) Row 17658794 (NC_000002.12:127656415:TT: 2/25596)...	-	Oct 12, 2022 (156)
51	14KJPN Submission ignored due to conflicting rows: Row 17658792 (NC_000002.12:127656415:T: 2446/25596) Row 17658793 (NC_000002.12:127656415::T 532/25596) Row 17658794 (NC_000002.12:127656415:TT: 2/25596)...	-	Oct 12, 2022 (156)
52	14KJPN Submission ignored due to conflicting rows: Row 17658792 (NC_000002.12:127656415:T: 2446/25596) Row 17658793 (NC_000002.12:127656415::T 532/25596) Row 17658794 (NC_000002.12:127656415:TT: 2/25596)...	-	Oct 12, 2022 (156)
53	ALFA	NC_000002.12 - 127656416	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
ss5153737619	NC_000002.11:128413989:TTTTTT:	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss5683821692	NC_000002.12:127656415:TTTTTT:	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT
ss4050337603	NC_000002.12:127656415:TTTTT:	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4050337602	NC_000002.12:127656415:TTTT:	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
4236331929	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4050337601	NC_000002.12:127656415:TTT:	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3064807781, ss4050337600, ss5449765018, ss5683821690	NC_000002.12:127656415:TT:	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
4236331929	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
2133239, ss663233520, ss2990371179, ss3728848374, ss3783988918, ss3827210170, ss5153737616	NC_000002.11:128413989:T:	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4050337599, ss5249917606, ss5449765016, ss5683821688, ss5852706027	NC_000002.12:127656415:T:	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
4236331929	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5153737617	NC_000002.11:128413989::T	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4050337593, ss5249917607, ss5449765017, ss5683821689	NC_000002.12:127656415::T	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
4236331929	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss80730167	NT_022135.16:18162669::T	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5153737618	NC_000002.11:128413989::TT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4050337594, ss5683821691	NC_000002.12:127656415::TT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
4236331929	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4050337595	NC_000002.12:127656415::TTT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
4236331929	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4050337596	NC_000002.12:127656415::TTTT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
4236331929	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4050337597	NC_000002.12:127656415::TTTTT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
4236331929	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:127656415:TTTTTTTTTTT… NC_000002.12:127656415:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)

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

No publications for rs61254122

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

rs61254122