Name: rs1185308430
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.

rs1185308430

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:110419657-110419677 (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)₅ / delAAA / delAA / delA / …
del(A)₅ / 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 / dup(A)₁₂ / dup(A)₁₃ / dup(A)₁₄ / dup(A)₁₇ / dup(A)₁₉
Variation Type: Indel Insertion and Deletion
Frequency: delAAA=0.00000 (0/11206, ALFA)
delA=0.00000 (0/11206, ALFA)
dupA=0.00000 (0/11206, ALFA) (+ 2 more)
dupAA=0.00000 (0/11206, ALFA)
dup(A)₅=0.00000 (0/11206, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LIMS4 : Intron Variant
LOC100288570 : 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	11206	AAAAAAAAAAAAAAAAAAAAA=1.00000	AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000	1.0	N/A
European	Sub	7470	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	2370	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	90	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	2280	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	104	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
East Asian	Sub	80	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	24	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	130	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Latin American 2	Sub	586	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	90	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	456	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=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	11206	(A)₂₁=1.00000	delAAA=0.00000, delA=0.00000, dupA=0.00000, dupAA=0.00000, dup(A)₅=0.00000
Allele Frequency Aggregator	European	Sub	7470	(A)₂₁=1.0000	delAAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	2370	(A)₂₁=1.0000	delAAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	586	(A)₂₁=1.000	delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	456	(A)₂₁=1.000	delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	130	(A)₂₁=1.000	delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Asian	Sub	104	(A)₂₁=1.000	delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	South Asian	Sub	90	(A)₂₁=1.00	delAAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)₅=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 2	NC_000002.12:g.110419673_110419677del
GRCh38.p14 chr 2	NC_000002.12:g.110419675_110419677del
GRCh38.p14 chr 2	NC_000002.12:g.110419676_110419677del
GRCh38.p14 chr 2	NC_000002.12:g.110419677del
GRCh38.p14 chr 2	NC_000002.12:g.110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419676_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419675_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419674_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419673_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419672_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419671_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419670_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419669_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419668_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419667_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419666_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419665_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419664_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419661_110419677dup
GRCh38.p14 chr 2	NC_000002.12:g.110419659_110419677dup
GRCh37.p13 chr 2	NC_000002.11:g.111177250_111177254del
GRCh37.p13 chr 2	NC_000002.11:g.111177252_111177254del
GRCh37.p13 chr 2	NC_000002.11:g.111177253_111177254del
GRCh37.p13 chr 2	NC_000002.11:g.111177254del
GRCh37.p13 chr 2	NC_000002.11:g.111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177253_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177252_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177251_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177250_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177249_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177248_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177247_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177246_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177245_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177244_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177243_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177242_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177241_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177238_111177254dup
GRCh37.p13 chr 2	NC_000002.11:g.111177236_111177254dup

Gene: LIMS4, LIM zinc finger domain containing 4 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LIMS4 transcript variant 1	NM_001205288.2:c.	N/A	Genic Downstream Transcript Variant
LIMS4 transcript variant 3	NM_001371340.3:c.	N/A	Genic Downstream Transcript Variant
LIMS4 transcript variant 2	NR_038099.1:n.	N/A	Genic Downstream Transcript Variant
LIMS4 transcript variant X1	XM_017003103.3:c.1049+274… XM_017003103.3:c.1049+27424_1049+27428del	N/A	Intron Variant
LIMS4 transcript variant X4	XM_017003104.3:c.1049+274… XM_017003104.3:c.1049+27424_1049+27428del	N/A	Intron Variant
LIMS4 transcript variant X3	XM_017003105.3:c.1049+274… XM_017003105.3:c.1049+27424_1049+27428del	N/A	Intron Variant
LIMS4 transcript variant X5	XM_047442254.1:c.	N/A	Genic Downstream Transcript Variant
LIMS4 transcript variant X2	XR_007068194.1:n.	N/A	Intron Variant

Gene: LOC100288570, glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) pseudogene (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC100288570 transcript	NR_037627.1: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	(A)₂₁=	del(A)₅	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	dup(A)₁₂	dup(A)₁₃	dup(A)₁₄	dup(A)₁₇	dup(A)₁₉
GRCh38.p14 chr 2	NC_000002.12:g.110419657_110419677=	NC_000002.12:g.110419673_110419677del	NC_000002.12:g.110419675_110419677del	NC_000002.12:g.110419676_110419677del	NC_000002.12:g.110419677del	NC_000002.12:g.110419677dup	NC_000002.12:g.110419676_110419677dup	NC_000002.12:g.110419675_110419677dup	NC_000002.12:g.110419674_110419677dup	NC_000002.12:g.110419673_110419677dup	NC_000002.12:g.110419672_110419677dup	NC_000002.12:g.110419671_110419677dup	NC_000002.12:g.110419670_110419677dup	NC_000002.12:g.110419669_110419677dup	NC_000002.12:g.110419668_110419677dup	NC_000002.12:g.110419667_110419677dup	NC_000002.12:g.110419666_110419677dup	NC_000002.12:g.110419665_110419677dup	NC_000002.12:g.110419664_110419677dup	NC_000002.12:g.110419661_110419677dup	NC_000002.12:g.110419659_110419677dup
GRCh37.p13 chr 2	NC_000002.11:g.111177234_111177254=	NC_000002.11:g.111177250_111177254del	NC_000002.11:g.111177252_111177254del	NC_000002.11:g.111177253_111177254del	NC_000002.11:g.111177254del	NC_000002.11:g.111177254dup	NC_000002.11:g.111177253_111177254dup	NC_000002.11:g.111177252_111177254dup	NC_000002.11:g.111177251_111177254dup	NC_000002.11:g.111177250_111177254dup	NC_000002.11:g.111177249_111177254dup	NC_000002.11:g.111177248_111177254dup	NC_000002.11:g.111177247_111177254dup	NC_000002.11:g.111177246_111177254dup	NC_000002.11:g.111177245_111177254dup	NC_000002.11:g.111177244_111177254dup	NC_000002.11:g.111177243_111177254dup	NC_000002.11:g.111177242_111177254dup	NC_000002.11:g.111177241_111177254dup	NC_000002.11:g.111177238_111177254dup	NC_000002.11:g.111177236_111177254dup
LIMS4 transcript variant X1	XM_017003103.3:c.1049+27428=	XM_017003103.3:c.1049+27424_1049+27428del	XM_017003103.3:c.1049+27426_1049+27428del	XM_017003103.3:c.1049+27427_1049+27428del	XM_017003103.3:c.1049+27428del	XM_017003103.3:c.1049+27428dup	XM_017003103.3:c.1049+27427_1049+27428dup	XM_017003103.3:c.1049+27426_1049+27428dup	XM_017003103.3:c.1049+27425_1049+27428dup	XM_017003103.3:c.1049+27424_1049+27428dup	XM_017003103.3:c.1049+27423_1049+27428dup	XM_017003103.3:c.1049+27422_1049+27428dup	XM_017003103.3:c.1049+27421_1049+27428dup	XM_017003103.3:c.1049+27420_1049+27428dup	XM_017003103.3:c.1049+27419_1049+27428dup	XM_017003103.3:c.1049+27418_1049+27428dup	XM_017003103.3:c.1049+27417_1049+27428dup	XM_017003103.3:c.1049+27416_1049+27428dup	XM_017003103.3:c.1049+27415_1049+27428dup	XM_017003103.3:c.1049+27412_1049+27428dup	XM_017003103.3:c.1049+27410_1049+27428dup
LIMS4 transcript variant X4	XM_017003104.3:c.1049+27428=	XM_017003104.3:c.1049+27424_1049+27428del	XM_017003104.3:c.1049+27426_1049+27428del	XM_017003104.3:c.1049+27427_1049+27428del	XM_017003104.3:c.1049+27428del	XM_017003104.3:c.1049+27428dup	XM_017003104.3:c.1049+27427_1049+27428dup	XM_017003104.3:c.1049+27426_1049+27428dup	XM_017003104.3:c.1049+27425_1049+27428dup	XM_017003104.3:c.1049+27424_1049+27428dup	XM_017003104.3:c.1049+27423_1049+27428dup	XM_017003104.3:c.1049+27422_1049+27428dup	XM_017003104.3:c.1049+27421_1049+27428dup	XM_017003104.3:c.1049+27420_1049+27428dup	XM_017003104.3:c.1049+27419_1049+27428dup	XM_017003104.3:c.1049+27418_1049+27428dup	XM_017003104.3:c.1049+27417_1049+27428dup	XM_017003104.3:c.1049+27416_1049+27428dup	XM_017003104.3:c.1049+27415_1049+27428dup	XM_017003104.3:c.1049+27412_1049+27428dup	XM_017003104.3:c.1049+27410_1049+27428dup
LIMS4 transcript variant X3	XM_017003105.3:c.1049+27428=	XM_017003105.3:c.1049+27424_1049+27428del	XM_017003105.3:c.1049+27426_1049+27428del	XM_017003105.3:c.1049+27427_1049+27428del	XM_017003105.3:c.1049+27428del	XM_017003105.3:c.1049+27428dup	XM_017003105.3:c.1049+27427_1049+27428dup	XM_017003105.3:c.1049+27426_1049+27428dup	XM_017003105.3:c.1049+27425_1049+27428dup	XM_017003105.3:c.1049+27424_1049+27428dup	XM_017003105.3:c.1049+27423_1049+27428dup	XM_017003105.3:c.1049+27422_1049+27428dup	XM_017003105.3:c.1049+27421_1049+27428dup	XM_017003105.3:c.1049+27420_1049+27428dup	XM_017003105.3:c.1049+27419_1049+27428dup	XM_017003105.3:c.1049+27418_1049+27428dup	XM_017003105.3:c.1049+27417_1049+27428dup	XM_017003105.3:c.1049+27416_1049+27428dup	XM_017003105.3:c.1049+27415_1049+27428dup	XM_017003105.3:c.1049+27412_1049+27428dup	XM_017003105.3:c.1049+27410_1049+27428dup

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#.

48 SubSNP, 34 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	MCHAISSO	ss3063950188	Jan 10, 2018 (151)
2	EVA_DECODE	ss3704616578	Jul 13, 2019 (153)
3	EVA_DECODE	ss3704616579	Jul 13, 2019 (153)
4	EVA_DECODE	ss3704616580	Jul 13, 2019 (153)
5	EVA_DECODE	ss3704616581	Jul 13, 2019 (153)
6	KOGIC	ss3948668470	Apr 25, 2020 (154)
7	KOGIC	ss3948668471	Apr 25, 2020 (154)
8	KOGIC	ss3948668472	Apr 25, 2020 (154)
9	KOGIC	ss3948668473	Apr 25, 2020 (154)
10	KOGIC	ss3948668474	Apr 25, 2020 (154)
11	GNOMAD	ss4048235724	Apr 26, 2021 (155)
12	GNOMAD	ss4048235725	Apr 26, 2021 (155)
13	GNOMAD	ss4048235726	Apr 26, 2021 (155)
14	GNOMAD	ss4048235727	Apr 26, 2021 (155)
15	GNOMAD	ss4048235728	Apr 26, 2021 (155)
16	GNOMAD	ss4048235729	Apr 26, 2021 (155)
17	GNOMAD	ss4048235730	Apr 26, 2021 (155)
18	GNOMAD	ss4048235731	Apr 26, 2021 (155)
19	GNOMAD	ss4048235732	Apr 26, 2021 (155)
20	GNOMAD	ss4048235733	Apr 26, 2021 (155)
21	GNOMAD	ss4048235734	Apr 26, 2021 (155)
22	GNOMAD	ss4048235735	Apr 26, 2021 (155)
23	GNOMAD	ss4048235736	Apr 26, 2021 (155)
24	GNOMAD	ss4048235737	Apr 26, 2021 (155)
25	GNOMAD	ss4048235738	Apr 26, 2021 (155)
26	GNOMAD	ss4048235739	Apr 26, 2021 (155)
27	GNOMAD	ss4048235740	Apr 26, 2021 (155)
28	GNOMAD	ss4048235741	Apr 26, 2021 (155)
29	GNOMAD	ss4048235742	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5153180278	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5153180279	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5153180280	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5153180281	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5153180282	Apr 26, 2021 (155)
35	HUGCELL_USP	ss5449395266	Oct 12, 2022 (156)
36	HUGCELL_USP	ss5449395267	Oct 12, 2022 (156)
37	HUGCELL_USP	ss5449395268	Oct 12, 2022 (156)
38	HUGCELL_USP	ss5449395269	Oct 12, 2022 (156)
39	HUGCELL_USP	ss5449395270	Oct 12, 2022 (156)
40	HUGCELL_USP	ss5449395271	Oct 12, 2022 (156)
41	TOMMO_GENOMICS	ss5683102629	Oct 12, 2022 (156)
42	TOMMO_GENOMICS	ss5683102630	Oct 12, 2022 (156)
43	TOMMO_GENOMICS	ss5683102631	Oct 12, 2022 (156)
44	TOMMO_GENOMICS	ss5683102632	Oct 12, 2022 (156)
45	YY_MCH	ss5802593867	Oct 12, 2022 (156)
46	EVA	ss5820601397	Oct 12, 2022 (156)
47	EVA	ss5820601398	Oct 12, 2022 (156)
48	EVA	ss5820601399	Oct 12, 2022 (156)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69525932 (NC_000002.12:110419656::A 51/7300) Row 69525933 (NC_000002.12:110419656::AA 17/7288) Row 69525934 (NC_000002.12:110419656::AAA 157/7012)...	-	Apr 26, 2021 (155)
68	Korean Genome Project Submission ignored due to conflicting rows: Row 5046471 (NC_000002.12:110419656:A: 168/1110) Row 5046472 (NC_000002.12:110419657::A 24/1110) Row 5046473 (NC_000002.12:110419657::AAA 18/1110)...	-	Apr 25, 2020 (154)
69	Korean Genome Project Submission ignored due to conflicting rows: Row 5046471 (NC_000002.12:110419656:A: 168/1110) Row 5046472 (NC_000002.12:110419657::A 24/1110) Row 5046473 (NC_000002.12:110419657::AAA 18/1110)...	-	Apr 25, 2020 (154)
70	Korean Genome Project Submission ignored due to conflicting rows: Row 5046471 (NC_000002.12:110419656:A: 168/1110) Row 5046472 (NC_000002.12:110419657::A 24/1110) Row 5046473 (NC_000002.12:110419657::AAA 18/1110)...	-	Apr 25, 2020 (154)
71	Korean Genome Project Submission ignored due to conflicting rows: Row 5046471 (NC_000002.12:110419656:A: 168/1110) Row 5046472 (NC_000002.12:110419657::A 24/1110) Row 5046473 (NC_000002.12:110419657::AAA 18/1110)...	-	Apr 25, 2020 (154)
72	Korean Genome Project Submission ignored due to conflicting rows: Row 5046471 (NC_000002.12:110419656:A: 168/1110) Row 5046472 (NC_000002.12:110419657::A 24/1110) Row 5046473 (NC_000002.12:110419657::AAA 18/1110)...	-	Apr 25, 2020 (154)
73	8.3KJPN Submission ignored due to conflicting rows: Row 11149585 (NC_000002.11:111177233:A: 162/11536) Row 11149586 (NC_000002.11:111177233::AAAAAA 30/11536) Row 11149587 (NC_000002.11:111177233::A 80/11536)...	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 11149585 (NC_000002.11:111177233:A: 162/11536) Row 11149586 (NC_000002.11:111177233::AAAAAA 30/11536) Row 11149587 (NC_000002.11:111177233::A 80/11536)...	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 11149585 (NC_000002.11:111177233:A: 162/11536) Row 11149586 (NC_000002.11:111177233::AAAAAA 30/11536) Row 11149587 (NC_000002.11:111177233::A 80/11536)...	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 11149585 (NC_000002.11:111177233:A: 162/11536) Row 11149586 (NC_000002.11:111177233::AAAAAA 30/11536) Row 11149587 (NC_000002.11:111177233::A 80/11536)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 11149585 (NC_000002.11:111177233:A: 162/11536) Row 11149586 (NC_000002.11:111177233::AAAAAA 30/11536) Row 11149587 (NC_000002.11:111177233::A 80/11536)...	-	Apr 26, 2021 (155)
78	14KJPN Submission ignored due to conflicting rows: Row 16939733 (NC_000002.12:110419656:A: 245/15880) Row 16939734 (NC_000002.12:110419656::AAA 74/15880) Row 16939735 (NC_000002.12:110419656::A 167/15880)...	-	Oct 12, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 16939733 (NC_000002.12:110419656:A: 245/15880) Row 16939734 (NC_000002.12:110419656::AAA 74/15880) Row 16939735 (NC_000002.12:110419656::A 167/15880)...	-	Oct 12, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 16939733 (NC_000002.12:110419656:A: 245/15880) Row 16939734 (NC_000002.12:110419656::AAA 74/15880) Row 16939735 (NC_000002.12:110419656::A 167/15880)...	-	Oct 12, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 16939733 (NC_000002.12:110419656:A: 245/15880) Row 16939734 (NC_000002.12:110419656::AAA 74/15880) Row 16939735 (NC_000002.12:110419656::A 167/15880)...	-	Oct 12, 2022 (156)
82	ALFA	NC_000002.12 - 110419657	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
ss4048235742	NC_000002.12:110419656:AAAAA:	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3704616581, ss4048235741, ss5449395267	NC_000002.12:110419656:AAA:	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4852506051	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3063950188, ss5683102632	NC_000002.12:110419656:AA:	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3704616580	NC_000002.12:110419657:AA:	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5153180278	NC_000002.11:111177233:A:	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3948668470, ss4048235740, ss5449395269, ss5683102629, ss5802593867	NC_000002.12:110419656:A:	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
4852506051	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3704616579	NC_000002.12:110419658:A:	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5153180280	NC_000002.11:111177233::A	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235724, ss5683102631	NC_000002.12:110419656::A	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
4852506051	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3948668471	NC_000002.12:110419657::A	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235725	NC_000002.12:110419656::AA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
4852506051	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3948668474	NC_000002.12:110419657::AA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5153180281	NC_000002.11:111177233::AAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235726, ss5449395270, ss5683102630	NC_000002.12:110419656::AAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3948668472	NC_000002.12:110419657::AAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3704616578	NC_000002.12:110419659::AAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5820601399	NC_000002.11:111177233::AAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
ss4048235727	NC_000002.12:110419656::AAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235728	NC_000002.12:110419656::AAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4852506051	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5153180279	NC_000002.11:111177233::AAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235729, ss5449395268	NC_000002.12:110419656::AAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5153180282, ss5820601397	NC_000002.11:111177233::AAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235730	NC_000002.12:110419656::AAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235731	NC_000002.12:110419656::AAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235732, ss5449395266	NC_000002.12:110419656::AAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5820601398	NC_000002.11:111177233::AAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ss4048235733	NC_000002.12:110419656::AAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235734	NC_000002.12:110419656::AAAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3948668473	NC_000002.12:110419657::AAAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235735, ss5449395271	NC_000002.12:110419656::AAAAAAAAAA… NC_000002.12:110419656::AAAAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235736	NC_000002.12:110419656::AAAAAAAAAA… NC_000002.12:110419656::AAAAAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235737	NC_000002.12:110419656::AAAAAAAAAA… NC_000002.12:110419656::AAAAAAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235738	NC_000002.12:110419656::AAAAAAAAAA… NC_000002.12:110419656::AAAAAAAAAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4048235739	NC_000002.12:110419656::AAAAAAAAAA… NC_000002.12:110419656::AAAAAAAAAAAAAAAAAAA	NC_000002.12:110419656:AAAAAAAAAAA… NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs1185308430

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

rs1185308430