Name: rs71380066
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.

rs71380066

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:127502687-127502710 (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)₁₄ / del(A)₁₂ / del(A)₁₁ / d…
del(A)₁₄ / del(A)₁₂ / del(A)₁₁ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₄=0.0000 (0/2048, ALFA)
del(A)₁₂=0.0000 (0/2048, ALFA)
del(A)₁₁=0.0000 (0/2048, ALFA) (+ 13 more)
del(A)₉=0.0000 (0/2048, ALFA)
del(A)₈=0.0000 (0/2048, ALFA)
del(A)₇=0.0000 (0/2048, ALFA)
del(A)₆=0.0000 (0/2048, ALFA)
del(A)₅=0.0000 (0/2048, ALFA)
del(A)₄=0.0000 (0/2048, ALFA)
delAAA=0.0000 (0/2048, ALFA)
delAA=0.0000 (0/2048, ALFA)
delA=0.0000 (0/2048, ALFA)
dupA=0.0000 (0/2048, ALFA)
dupAA=0.0000 (0/2048, ALFA)
dupAAA=0.0000 (0/2048, ALFA)
dup(A)₅=0.0000 (0/2048, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LRSAM1 : 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	2048	AAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	1334	AAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	438	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	16	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	422	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	50	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	40	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	10	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	32	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	78	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
South Asian	Sub	20	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	96	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	2048	(A)₂₄=1.0000	del(A)₁₄=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	1334	(A)₂₄=1.0000	del(A)₁₄=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	438	(A)₂₄=1.000	del(A)₁₄=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	96	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Latin American 2	Sub	78	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Asian	Sub	50	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	32	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	20	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)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 9	NC_000009.12:g.127502697_127502710del
GRCh38.p14 chr 9	NC_000009.12:g.127502699_127502710del
GRCh38.p14 chr 9	NC_000009.12:g.127502700_127502710del
GRCh38.p14 chr 9	NC_000009.12:g.127502702_127502710del
GRCh38.p14 chr 9	NC_000009.12:g.127502703_127502710del
GRCh38.p14 chr 9	NC_000009.12:g.127502704_127502710del
GRCh38.p14 chr 9	NC_000009.12:g.127502705_127502710del
GRCh38.p14 chr 9	NC_000009.12:g.127502706_127502710del
GRCh38.p14 chr 9	NC_000009.12:g.127502707_127502710del
GRCh38.p14 chr 9	NC_000009.12:g.127502708_127502710del
GRCh38.p14 chr 9	NC_000009.12:g.127502709_127502710del
GRCh38.p14 chr 9	NC_000009.12:g.127502710del
GRCh38.p14 chr 9	NC_000009.12:g.127502710dup
GRCh38.p14 chr 9	NC_000009.12:g.127502709_127502710dup
GRCh38.p14 chr 9	NC_000009.12:g.127502708_127502710dup
GRCh38.p14 chr 9	NC_000009.12:g.127502707_127502710dup
GRCh38.p14 chr 9	NC_000009.12:g.127502706_127502710dup
GRCh38.p14 chr 9	NC_000009.12:g.127502705_127502710dup
GRCh37.p13 chr 9	NC_000009.11:g.130264976_130264989del
GRCh37.p13 chr 9	NC_000009.11:g.130264978_130264989del
GRCh37.p13 chr 9	NC_000009.11:g.130264979_130264989del
GRCh37.p13 chr 9	NC_000009.11:g.130264981_130264989del
GRCh37.p13 chr 9	NC_000009.11:g.130264982_130264989del
GRCh37.p13 chr 9	NC_000009.11:g.130264983_130264989del
GRCh37.p13 chr 9	NC_000009.11:g.130264984_130264989del
GRCh37.p13 chr 9	NC_000009.11:g.130264985_130264989del
GRCh37.p13 chr 9	NC_000009.11:g.130264986_130264989del
GRCh37.p13 chr 9	NC_000009.11:g.130264987_130264989del
GRCh37.p13 chr 9	NC_000009.11:g.130264988_130264989del
GRCh37.p13 chr 9	NC_000009.11:g.130264989del
GRCh37.p13 chr 9	NC_000009.11:g.130264989dup
GRCh37.p13 chr 9	NC_000009.11:g.130264988_130264989dup
GRCh37.p13 chr 9	NC_000009.11:g.130264987_130264989dup
GRCh37.p13 chr 9	NC_000009.11:g.130264986_130264989dup
GRCh37.p13 chr 9	NC_000009.11:g.130264985_130264989dup
GRCh37.p13 chr 9	NC_000009.11:g.130264984_130264989dup
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56212_56225del
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56214_56225del
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56215_56225del
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56217_56225del
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56218_56225del
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56219_56225del
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56220_56225del
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56221_56225del
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56222_56225del
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56223_56225del
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56224_56225del
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56225del
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56225dup
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56224_56225dup
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56223_56225dup
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56222_56225dup
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56221_56225dup
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56220_56225dup

Gene: LRSAM1, leucine rich repeat and sterile alpha motif containing 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LRSAM1 transcript variant 2	NM_001005373.4:c.2047-77_… NM_001005373.4:c.2047-77_2047-64del	N/A	Intron Variant
LRSAM1 transcript variant 3	NM_001005374.4:c.2047-77_… NM_001005374.4:c.2047-77_2047-64del	N/A	Intron Variant
LRSAM1 transcript variant 4	NM_001190723.3:c.1966-77_… NM_001190723.3:c.1966-77_1966-64del	N/A	Intron Variant
LRSAM1 transcript variant 5	NM_001384142.1:c.2047-77_… NM_001384142.1:c.2047-77_2047-64del	N/A	Intron Variant
LRSAM1 transcript variant 6	NM_001384143.1:c.1948-77_… NM_001384143.1:c.1948-77_1948-64del	N/A	Intron Variant
LRSAM1 transcript variant 7	NM_001384144.1:c.1258-77_… NM_001384144.1:c.1258-77_1258-64del	N/A	Intron Variant
LRSAM1 transcript variant 1	NM_138361.5:c.2047-77_204… NM_138361.5:c.2047-77_2047-64del	N/A	Intron Variant
LRSAM1 transcript variant 8	NR_168891.1:n.	N/A	Intron Variant
LRSAM1 transcript variant 9	NR_168892.1:n.	N/A	Intron Variant
LRSAM1 transcript variant X1	XM_047424058.1:c.1948-77_… XM_047424058.1:c.1948-77_1948-64del	N/A	Intron Variant
LRSAM1 transcript variant X2	XM_047424059.1:c.1258-77_… XM_047424059.1:c.1258-77_1258-64del	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)₂₄=	del(A)₁₄	del(A)₁₂	del(A)₁₁	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆
GRCh38.p14 chr 9	NC_000009.12:g.127502687_127502710=	NC_000009.12:g.127502697_127502710del	NC_000009.12:g.127502699_127502710del	NC_000009.12:g.127502700_127502710del	NC_000009.12:g.127502702_127502710del	NC_000009.12:g.127502703_127502710del	NC_000009.12:g.127502704_127502710del	NC_000009.12:g.127502705_127502710del	NC_000009.12:g.127502706_127502710del	NC_000009.12:g.127502707_127502710del	NC_000009.12:g.127502708_127502710del	NC_000009.12:g.127502709_127502710del	NC_000009.12:g.127502710del	NC_000009.12:g.127502710dup	NC_000009.12:g.127502709_127502710dup	NC_000009.12:g.127502708_127502710dup	NC_000009.12:g.127502707_127502710dup	NC_000009.12:g.127502706_127502710dup	NC_000009.12:g.127502705_127502710dup
GRCh37.p13 chr 9	NC_000009.11:g.130264966_130264989=	NC_000009.11:g.130264976_130264989del	NC_000009.11:g.130264978_130264989del	NC_000009.11:g.130264979_130264989del	NC_000009.11:g.130264981_130264989del	NC_000009.11:g.130264982_130264989del	NC_000009.11:g.130264983_130264989del	NC_000009.11:g.130264984_130264989del	NC_000009.11:g.130264985_130264989del	NC_000009.11:g.130264986_130264989del	NC_000009.11:g.130264987_130264989del	NC_000009.11:g.130264988_130264989del	NC_000009.11:g.130264989del	NC_000009.11:g.130264989dup	NC_000009.11:g.130264988_130264989dup	NC_000009.11:g.130264987_130264989dup	NC_000009.11:g.130264986_130264989dup	NC_000009.11:g.130264985_130264989dup	NC_000009.11:g.130264984_130264989dup
LRSAM1 RefSeqGene (LRG_373)	NG_032008.1:g.56202_56225=	NG_032008.1:g.56212_56225del	NG_032008.1:g.56214_56225del	NG_032008.1:g.56215_56225del	NG_032008.1:g.56217_56225del	NG_032008.1:g.56218_56225del	NG_032008.1:g.56219_56225del	NG_032008.1:g.56220_56225del	NG_032008.1:g.56221_56225del	NG_032008.1:g.56222_56225del	NG_032008.1:g.56223_56225del	NG_032008.1:g.56224_56225del	NG_032008.1:g.56225del	NG_032008.1:g.56225dup	NG_032008.1:g.56224_56225dup	NG_032008.1:g.56223_56225dup	NG_032008.1:g.56222_56225dup	NG_032008.1:g.56221_56225dup	NG_032008.1:g.56220_56225dup
LRSAM1 transcript variant 2	NM_001005373.3:c.2047-87=	NM_001005373.3:c.2047-77_2047-64del	NM_001005373.3:c.2047-75_2047-64del	NM_001005373.3:c.2047-74_2047-64del	NM_001005373.3:c.2047-72_2047-64del	NM_001005373.3:c.2047-71_2047-64del	NM_001005373.3:c.2047-70_2047-64del	NM_001005373.3:c.2047-69_2047-64del	NM_001005373.3:c.2047-68_2047-64del	NM_001005373.3:c.2047-67_2047-64del	NM_001005373.3:c.2047-66_2047-64del	NM_001005373.3:c.2047-65_2047-64del	NM_001005373.3:c.2047-64del	NM_001005373.3:c.2047-64dup	NM_001005373.3:c.2047-65_2047-64dup	NM_001005373.3:c.2047-66_2047-64dup	NM_001005373.3:c.2047-67_2047-64dup	NM_001005373.3:c.2047-68_2047-64dup	NM_001005373.3:c.2047-69_2047-64dup
LRSAM1 transcript variant 2	NM_001005373.4:c.2047-87=	NM_001005373.4:c.2047-77_2047-64del	NM_001005373.4:c.2047-75_2047-64del	NM_001005373.4:c.2047-74_2047-64del	NM_001005373.4:c.2047-72_2047-64del	NM_001005373.4:c.2047-71_2047-64del	NM_001005373.4:c.2047-70_2047-64del	NM_001005373.4:c.2047-69_2047-64del	NM_001005373.4:c.2047-68_2047-64del	NM_001005373.4:c.2047-67_2047-64del	NM_001005373.4:c.2047-66_2047-64del	NM_001005373.4:c.2047-65_2047-64del	NM_001005373.4:c.2047-64del	NM_001005373.4:c.2047-64dup	NM_001005373.4:c.2047-65_2047-64dup	NM_001005373.4:c.2047-66_2047-64dup	NM_001005373.4:c.2047-67_2047-64dup	NM_001005373.4:c.2047-68_2047-64dup	NM_001005373.4:c.2047-69_2047-64dup
LRSAM1 transcript variant 3	NM_001005374.3:c.2047-87=	NM_001005374.3:c.2047-77_2047-64del	NM_001005374.3:c.2047-75_2047-64del	NM_001005374.3:c.2047-74_2047-64del	NM_001005374.3:c.2047-72_2047-64del	NM_001005374.3:c.2047-71_2047-64del	NM_001005374.3:c.2047-70_2047-64del	NM_001005374.3:c.2047-69_2047-64del	NM_001005374.3:c.2047-68_2047-64del	NM_001005374.3:c.2047-67_2047-64del	NM_001005374.3:c.2047-66_2047-64del	NM_001005374.3:c.2047-65_2047-64del	NM_001005374.3:c.2047-64del	NM_001005374.3:c.2047-64dup	NM_001005374.3:c.2047-65_2047-64dup	NM_001005374.3:c.2047-66_2047-64dup	NM_001005374.3:c.2047-67_2047-64dup	NM_001005374.3:c.2047-68_2047-64dup	NM_001005374.3:c.2047-69_2047-64dup
LRSAM1 transcript variant 3	NM_001005374.4:c.2047-87=	NM_001005374.4:c.2047-77_2047-64del	NM_001005374.4:c.2047-75_2047-64del	NM_001005374.4:c.2047-74_2047-64del	NM_001005374.4:c.2047-72_2047-64del	NM_001005374.4:c.2047-71_2047-64del	NM_001005374.4:c.2047-70_2047-64del	NM_001005374.4:c.2047-69_2047-64del	NM_001005374.4:c.2047-68_2047-64del	NM_001005374.4:c.2047-67_2047-64del	NM_001005374.4:c.2047-66_2047-64del	NM_001005374.4:c.2047-65_2047-64del	NM_001005374.4:c.2047-64del	NM_001005374.4:c.2047-64dup	NM_001005374.4:c.2047-65_2047-64dup	NM_001005374.4:c.2047-66_2047-64dup	NM_001005374.4:c.2047-67_2047-64dup	NM_001005374.4:c.2047-68_2047-64dup	NM_001005374.4:c.2047-69_2047-64dup
LRSAM1 transcript variant 4	NM_001190723.2:c.1966-87=	NM_001190723.2:c.1966-77_1966-64del	NM_001190723.2:c.1966-75_1966-64del	NM_001190723.2:c.1966-74_1966-64del	NM_001190723.2:c.1966-72_1966-64del	NM_001190723.2:c.1966-71_1966-64del	NM_001190723.2:c.1966-70_1966-64del	NM_001190723.2:c.1966-69_1966-64del	NM_001190723.2:c.1966-68_1966-64del	NM_001190723.2:c.1966-67_1966-64del	NM_001190723.2:c.1966-66_1966-64del	NM_001190723.2:c.1966-65_1966-64del	NM_001190723.2:c.1966-64del	NM_001190723.2:c.1966-64dup	NM_001190723.2:c.1966-65_1966-64dup	NM_001190723.2:c.1966-66_1966-64dup	NM_001190723.2:c.1966-67_1966-64dup	NM_001190723.2:c.1966-68_1966-64dup	NM_001190723.2:c.1966-69_1966-64dup
LRSAM1 transcript variant 4	NM_001190723.3:c.1966-87=	NM_001190723.3:c.1966-77_1966-64del	NM_001190723.3:c.1966-75_1966-64del	NM_001190723.3:c.1966-74_1966-64del	NM_001190723.3:c.1966-72_1966-64del	NM_001190723.3:c.1966-71_1966-64del	NM_001190723.3:c.1966-70_1966-64del	NM_001190723.3:c.1966-69_1966-64del	NM_001190723.3:c.1966-68_1966-64del	NM_001190723.3:c.1966-67_1966-64del	NM_001190723.3:c.1966-66_1966-64del	NM_001190723.3:c.1966-65_1966-64del	NM_001190723.3:c.1966-64del	NM_001190723.3:c.1966-64dup	NM_001190723.3:c.1966-65_1966-64dup	NM_001190723.3:c.1966-66_1966-64dup	NM_001190723.3:c.1966-67_1966-64dup	NM_001190723.3:c.1966-68_1966-64dup	NM_001190723.3:c.1966-69_1966-64dup
LRSAM1 transcript variant 5	NM_001384142.1:c.2047-87=	NM_001384142.1:c.2047-77_2047-64del	NM_001384142.1:c.2047-75_2047-64del	NM_001384142.1:c.2047-74_2047-64del	NM_001384142.1:c.2047-72_2047-64del	NM_001384142.1:c.2047-71_2047-64del	NM_001384142.1:c.2047-70_2047-64del	NM_001384142.1:c.2047-69_2047-64del	NM_001384142.1:c.2047-68_2047-64del	NM_001384142.1:c.2047-67_2047-64del	NM_001384142.1:c.2047-66_2047-64del	NM_001384142.1:c.2047-65_2047-64del	NM_001384142.1:c.2047-64del	NM_001384142.1:c.2047-64dup	NM_001384142.1:c.2047-65_2047-64dup	NM_001384142.1:c.2047-66_2047-64dup	NM_001384142.1:c.2047-67_2047-64dup	NM_001384142.1:c.2047-68_2047-64dup	NM_001384142.1:c.2047-69_2047-64dup
LRSAM1 transcript variant 6	NM_001384143.1:c.1948-87=	NM_001384143.1:c.1948-77_1948-64del	NM_001384143.1:c.1948-75_1948-64del	NM_001384143.1:c.1948-74_1948-64del	NM_001384143.1:c.1948-72_1948-64del	NM_001384143.1:c.1948-71_1948-64del	NM_001384143.1:c.1948-70_1948-64del	NM_001384143.1:c.1948-69_1948-64del	NM_001384143.1:c.1948-68_1948-64del	NM_001384143.1:c.1948-67_1948-64del	NM_001384143.1:c.1948-66_1948-64del	NM_001384143.1:c.1948-65_1948-64del	NM_001384143.1:c.1948-64del	NM_001384143.1:c.1948-64dup	NM_001384143.1:c.1948-65_1948-64dup	NM_001384143.1:c.1948-66_1948-64dup	NM_001384143.1:c.1948-67_1948-64dup	NM_001384143.1:c.1948-68_1948-64dup	NM_001384143.1:c.1948-69_1948-64dup
LRSAM1 transcript variant 7	NM_001384144.1:c.1258-87=	NM_001384144.1:c.1258-77_1258-64del	NM_001384144.1:c.1258-75_1258-64del	NM_001384144.1:c.1258-74_1258-64del	NM_001384144.1:c.1258-72_1258-64del	NM_001384144.1:c.1258-71_1258-64del	NM_001384144.1:c.1258-70_1258-64del	NM_001384144.1:c.1258-69_1258-64del	NM_001384144.1:c.1258-68_1258-64del	NM_001384144.1:c.1258-67_1258-64del	NM_001384144.1:c.1258-66_1258-64del	NM_001384144.1:c.1258-65_1258-64del	NM_001384144.1:c.1258-64del	NM_001384144.1:c.1258-64dup	NM_001384144.1:c.1258-65_1258-64dup	NM_001384144.1:c.1258-66_1258-64dup	NM_001384144.1:c.1258-67_1258-64dup	NM_001384144.1:c.1258-68_1258-64dup	NM_001384144.1:c.1258-69_1258-64dup
LRSAM1 transcript variant 1	NM_138361.5:c.2047-87=	NM_138361.5:c.2047-77_2047-64del	NM_138361.5:c.2047-75_2047-64del	NM_138361.5:c.2047-74_2047-64del	NM_138361.5:c.2047-72_2047-64del	NM_138361.5:c.2047-71_2047-64del	NM_138361.5:c.2047-70_2047-64del	NM_138361.5:c.2047-69_2047-64del	NM_138361.5:c.2047-68_2047-64del	NM_138361.5:c.2047-67_2047-64del	NM_138361.5:c.2047-66_2047-64del	NM_138361.5:c.2047-65_2047-64del	NM_138361.5:c.2047-64del	NM_138361.5:c.2047-64dup	NM_138361.5:c.2047-65_2047-64dup	NM_138361.5:c.2047-66_2047-64dup	NM_138361.5:c.2047-67_2047-64dup	NM_138361.5:c.2047-68_2047-64dup	NM_138361.5:c.2047-69_2047-64dup
LRSAM1 transcript variant X1	XM_047424058.1:c.1948-87=	XM_047424058.1:c.1948-77_1948-64del	XM_047424058.1:c.1948-75_1948-64del	XM_047424058.1:c.1948-74_1948-64del	XM_047424058.1:c.1948-72_1948-64del	XM_047424058.1:c.1948-71_1948-64del	XM_047424058.1:c.1948-70_1948-64del	XM_047424058.1:c.1948-69_1948-64del	XM_047424058.1:c.1948-68_1948-64del	XM_047424058.1:c.1948-67_1948-64del	XM_047424058.1:c.1948-66_1948-64del	XM_047424058.1:c.1948-65_1948-64del	XM_047424058.1:c.1948-64del	XM_047424058.1:c.1948-64dup	XM_047424058.1:c.1948-65_1948-64dup	XM_047424058.1:c.1948-66_1948-64dup	XM_047424058.1:c.1948-67_1948-64dup	XM_047424058.1:c.1948-68_1948-64dup	XM_047424058.1:c.1948-69_1948-64dup
LRSAM1 transcript variant X2	XM_047424059.1:c.1258-87=	XM_047424059.1:c.1258-77_1258-64del	XM_047424059.1:c.1258-75_1258-64del	XM_047424059.1:c.1258-74_1258-64del	XM_047424059.1:c.1258-72_1258-64del	XM_047424059.1:c.1258-71_1258-64del	XM_047424059.1:c.1258-70_1258-64del	XM_047424059.1:c.1258-69_1258-64del	XM_047424059.1:c.1258-68_1258-64del	XM_047424059.1:c.1258-67_1258-64del	XM_047424059.1:c.1258-66_1258-64del	XM_047424059.1:c.1258-65_1258-64del	XM_047424059.1:c.1258-64del	XM_047424059.1:c.1258-64dup	XM_047424059.1:c.1258-65_1258-64dup	XM_047424059.1:c.1258-66_1258-64dup	XM_047424059.1:c.1258-67_1258-64dup	XM_047424059.1:c.1258-68_1258-64dup	XM_047424059.1:c.1258-69_1258-64dup

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#.

42 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95527310	Feb 13, 2009 (130)
2	HUMANGENOME_JCVI	ss97766727	Feb 13, 2009 (137)
3	PJP	ss295440557	May 09, 2011 (137)
4	PJP	ss295440558	May 09, 2011 (134)
5	SWEGEN	ss3005633177	Nov 08, 2017 (151)
6	PACBIO	ss3791727491	Jul 13, 2019 (153)
7	PACBIO	ss3796609034	Jul 13, 2019 (153)
8	FSA-LAB	ss3984429673	Apr 26, 2021 (155)
9	GNOMAD	ss4209901686	Apr 26, 2021 (155)
10	GNOMAD	ss4209901687	Apr 26, 2021 (155)
11	GNOMAD	ss4209901688	Apr 26, 2021 (155)
12	GNOMAD	ss4209901689	Apr 26, 2021 (155)
13	GNOMAD	ss4209901690	Apr 26, 2021 (155)
14	GNOMAD	ss4209901691	Apr 26, 2021 (155)
15	GNOMAD	ss4209901692	Apr 26, 2021 (155)
16	GNOMAD	ss4209901693	Apr 26, 2021 (155)
17	GNOMAD	ss4209901694	Apr 26, 2021 (155)
18	GNOMAD	ss4209901695	Apr 26, 2021 (155)
19	GNOMAD	ss4209901696	Apr 26, 2021 (155)
20	GNOMAD	ss4209901697	Apr 26, 2021 (155)
21	GNOMAD	ss4209901698	Apr 26, 2021 (155)
22	GNOMAD	ss4209901699	Apr 26, 2021 (155)
23	GNOMAD	ss4209901700	Apr 26, 2021 (155)
24	GNOMAD	ss4209901701	Apr 26, 2021 (155)
25	GNOMAD	ss4209901702	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5195419444	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5195419445	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5195419446	Apr 26, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5282270818	Oct 16, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5282270819	Oct 16, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5282270820	Oct 16, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5282270821	Oct 16, 2022 (156)
33	HUGCELL_USP	ss5478131423	Oct 16, 2022 (156)
34	HUGCELL_USP	ss5478131424	Oct 16, 2022 (156)
35	HUGCELL_USP	ss5478131425	Oct 16, 2022 (156)
36	EVA	ss5624187881	Oct 16, 2022 (156)
37	TOMMO_GENOMICS	ss5739985599	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5739985600	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5739985602	Oct 16, 2022 (156)
40	TOMMO_GENOMICS	ss5739985603	Oct 16, 2022 (156)
41	TMC_SNPDB2	ss5847002620	Oct 16, 2022 (156)
42	EVA	ss5980579227	Oct 16, 2022 (156)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 338440585 (NC_000009.12:127502686::A 1474/56432) Row 338440586 (NC_000009.12:127502686::AA 89/56820) Row 338440587 (NC_000009.12:127502686::AAA 11/56956)...	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 53388751 (NC_000009.11:130264965:A: 3295/15828) Row 53388752 (NC_000009.11:130264965::A 136/15828) Row 53388753 (NC_000009.11:130264965:AA: 91/15828)	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 53388751 (NC_000009.11:130264965:A: 3295/15828) Row 53388752 (NC_000009.11:130264965::A 136/15828) Row 53388753 (NC_000009.11:130264965:AA: 91/15828)	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 53388751 (NC_000009.11:130264965:A: 3295/15828) Row 53388752 (NC_000009.11:130264965::A 136/15828) Row 53388753 (NC_000009.11:130264965:AA: 91/15828)	-	Apr 26, 2021 (155)
63	14KJPN Submission ignored due to conflicting rows: Row 73822703 (NC_000009.12:127502686:A: 6473/26182) Row 73822704 (NC_000009.12:127502686::A 179/26182) Row 73822706 (NC_000009.12:127502686:AA: 187/26182)...	-	Oct 16, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 73822703 (NC_000009.12:127502686:A: 6473/26182) Row 73822704 (NC_000009.12:127502686::A 179/26182) Row 73822706 (NC_000009.12:127502686:AA: 187/26182)...	-	Oct 16, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 73822703 (NC_000009.12:127502686:A: 6473/26182) Row 73822704 (NC_000009.12:127502686::A 179/26182) Row 73822706 (NC_000009.12:127502686:AA: 187/26182)...	-	Oct 16, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 73822703 (NC_000009.12:127502686:A: 6473/26182) Row 73822704 (NC_000009.12:127502686::A 179/26182) Row 73822706 (NC_000009.12:127502686:AA: 187/26182)...	-	Oct 16, 2022 (156)
67	ALFA	NC_000009.12 - 127502687	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs71495645	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4209901702	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAA:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4209901701	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAA:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4209901700, ss5739985603	NC_000009.12:127502686:AAAAAAAAAAA:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4209901699, ss5282270821	NC_000009.12:127502686:AAAAAAAA:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4209901698	NC_000009.12:127502686:AAAAAAA:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4209901697	NC_000009.12:127502686:AAAAAA:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4209901696	NC_000009.12:127502686:AAAAA:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4209901695	NC_000009.12:127502686:AAAA:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4209901694, ss5847002620	NC_000009.12:127502686:AAA:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3984429673, ss5195419446, ss5624187881	NC_000009.11:130264965:AA:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4209901693, ss5282270820, ss5478131424, ss5739985602	NC_000009.12:127502686:AA:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss295440557	NC_000009.10:129304786:A:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss295440558	NC_000009.10:129304809:A:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3005633177, ss3791727491, ss3796609034, ss5195419444, ss5980579227	NC_000009.11:130264965:A:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4209901692, ss5282270818, ss5478131425, ss5739985599	NC_000009.12:127502686:A:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss97766727	NT_008470.19:59429497:A:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95527310	NT_008470.19:59429520:A:	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5195419445	NC_000009.11:130264965::A	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4209901686, ss5282270819, ss5478131423, ss5739985600	NC_000009.12:127502686::A	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4209901687	NC_000009.12:127502686::AA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4209901688	NC_000009.12:127502686::AAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4209901689	NC_000009.12:127502686::AAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4209901690	NC_000009.12:127502686::AAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
136366668	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4209901691	NC_000009.12:127502686::AAAAAA	NC_000009.12:127502686:AAAAAAAAAAA… NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs71380066

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

rs71380066