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dbSNP Short Genetic Variations

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.

rs1484819066

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:75805634 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/248756, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LMO7 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
Help

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
gnomAD - Exomes Global Study-wide 248756 T=0.999996 C=0.000004
gnomAD - Exomes European Sub 134132 T=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 48578 T=0.99998 C=0.00002
gnomAD - Exomes American Sub 34526 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 15432 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10038 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6050 T=1.0000 C=0.0000
Help

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 13 NC_000013.11:g.75805634T>C
GRCh37.p13 chr 13 NC_000013.10:g.76379770T>C
Gene: LMO7, LIM domain 7 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LMO7 transcript variant 7 NM_001366634.2:c.215+1093…

NM_001366634.2:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant 8 NM_001366636.2:c.215+1093…

NM_001366636.2:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant 1 NM_005358.5:c.1070+1093T>C N/A Intron Variant
LMO7 transcript variant 2 NM_015842.2:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform 2 NP_056667.2:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant 4 NM_001330583.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform 4 NP_001317512.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant 3 NM_001306080.2:c.1070T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform 3 NP_001293009.1:p.Val357Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant 6 NM_001366633.2:c.944T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform 5 NP_001353562.1:p.Val315Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant 5 NM_001366632.2:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform 2 NP_001353561.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X25 XM_011535095.3:c.215+1093…

XM_011535095.3:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X14 XM_024449359.2:c.215+1093…

XM_024449359.2:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X39 XM_024449363.2:c.827+1093…

XM_024449363.2:c.827+1093T>C

N/A Intron Variant
LMO7 transcript variant X13 XM_047430320.1:c.215+1093…

XM_047430320.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X15 XM_047430321.1:c.215+1093…

XM_047430321.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X16 XM_047430322.1:c.215+1093…

XM_047430322.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X18 XM_047430324.1:c.215+1093…

XM_047430324.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X19 XM_047430325.1:c.827+1093…

XM_047430325.1:c.827+1093T>C

N/A Intron Variant
LMO7 transcript variant X24 XM_047430330.1:c.215+1093…

XM_047430330.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X26 XM_047430331.1:c.215+1093…

XM_047430331.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X27 XM_047430333.1:c.215+1093…

XM_047430333.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X28 XM_047430334.1:c.215+1093…

XM_047430334.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X29 XM_047430335.1:c.215+1093…

XM_047430335.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X30 XM_047430336.1:c.215+1093…

XM_047430336.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X31 XM_047430337.1:c.215+1093…

XM_047430337.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X32 XM_047430338.1:c.215+1093…

XM_047430338.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X33 XM_047430339.1:c.827+1093…

XM_047430339.1:c.827+1093T>C

N/A Intron Variant
LMO7 transcript variant X34 XM_047430340.1:c.215+1093…

XM_047430340.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X35 XM_047430341.1:c.788+1093…

XM_047430341.1:c.788+1093T>C

N/A Intron Variant
LMO7 transcript variant X36 XM_047430342.1:c.827+1093…

XM_047430342.1:c.827+1093T>C

N/A Intron Variant
LMO7 transcript variant X37 XM_047430343.1:c.215+1093…

XM_047430343.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X38 XM_047430344.1:c.788+1093…

XM_047430344.1:c.788+1093T>C

N/A Intron Variant
LMO7 transcript variant X40 XM_047430345.1:c.788+1093…

XM_047430345.1:c.788+1093T>C

N/A Intron Variant
LMO7 transcript variant X41 XM_047430346.1:c.827+1093…

XM_047430346.1:c.827+1093T>C

N/A Intron Variant
LMO7 transcript variant X42 XM_047430347.1:c.788+1093…

XM_047430347.1:c.788+1093T>C

N/A Intron Variant
LMO7 transcript variant X43 XM_047430348.1:c.827+1093…

XM_047430348.1:c.827+1093T>C

N/A Intron Variant
LMO7 transcript variant X44 XM_047430349.1:c.827+1093…

XM_047430349.1:c.827+1093T>C

N/A Intron Variant
LMO7 transcript variant X45 XM_047430350.1:c.788+1093…

XM_047430350.1:c.788+1093T>C

N/A Intron Variant
LMO7 transcript variant X46 XM_047430351.1:c.827+1093…

XM_047430351.1:c.827+1093T>C

N/A Intron Variant
LMO7 transcript variant X47 XM_047430352.1:c.215+1093…

XM_047430352.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X48 XM_047430353.1:c.215+1093…

XM_047430353.1:c.215+1093T>C

N/A Intron Variant
LMO7 transcript variant X1 XM_047430307.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X1 XP_047286263.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X2 XM_047430308.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X2 XP_047286264.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X3 XM_047430309.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X3 XP_047286265.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X4 XM_047430310.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X4 XP_047286266.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X5 XM_047430311.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X5 XP_047286267.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X6 XM_047430312.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X6 XP_047286268.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X7 XM_047430314.1:c.983T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X7 XP_047286270.1:p.Val328Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X8 XM_047430315.1:c.944T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X8 XP_047286271.1:p.Val315Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X9 XM_047430316.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X9 XP_047286272.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X10 XM_047430317.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X10 XP_047286273.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X11 XM_047430318.1:c.983T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X11 XP_047286274.1:p.Val328Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X12 XM_047430319.1:c.944T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X12 XP_047286275.1:p.Val315Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X17 XM_047430323.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X17 XP_047286279.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X20 XM_047430326.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X17 XP_047286282.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X21 XM_047430327.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X17 XP_047286283.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X22 XM_047430328.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X17 XP_047286284.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
LMO7 transcript variant X23 XM_047430329.1:c.371T>C V [GTC] > A [GCC] Coding Sequence Variant
LIM domain only protein 7 isoform X20 XP_047286285.1:p.Val124Ala V (Val) > A (Ala) Missense Variant
Help

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
Help

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= C
GRCh38.p14 chr 13 NC_000013.11:g.75805634= NC_000013.11:g.75805634T>C
GRCh37.p13 chr 13 NC_000013.10:g.76379770= NC_000013.10:g.76379770T>C
LMO7 transcript variant 3 NM_001306080.2:c.1070= NM_001306080.2:c.1070T>C
LMO7 transcript variant 3 NM_001306080.1:c.1070= NM_001306080.1:c.1070T>C
LMO7 transcript variant 2 NM_015842.2:c.371= NM_015842.2:c.371T>C
LMO7 transcript variant 5 NM_001366632.2:c.371= NM_001366632.2:c.371T>C
LMO7 transcript variant 5 NM_001366632.1:c.371= NM_001366632.1:c.371T>C
LMO7 transcript variant 6 NM_001366633.2:c.944= NM_001366633.2:c.944T>C
LMO7 transcript variant 6 NM_001366633.1:c.944= NM_001366633.1:c.944T>C
LMO7 transcript variant X17 XM_047430323.1:c.371= XM_047430323.1:c.371T>C
LMO7 transcript variant X21 XM_047430327.1:c.371= XM_047430327.1:c.371T>C
LMO7 transcript variant X7 XM_047430314.1:c.983= XM_047430314.1:c.983T>C
LMO7 transcript variant X20 XM_047430326.1:c.371= XM_047430326.1:c.371T>C
LMO7 transcript variant X8 XM_047430315.1:c.944= XM_047430315.1:c.944T>C
LMO7 transcript variant X1 XM_047430307.1:c.371= XM_047430307.1:c.371T>C
LMO7 transcript variant X23 XM_047430329.1:c.371= XM_047430329.1:c.371T>C
LMO7 transcript variant X2 XM_047430308.1:c.371= XM_047430308.1:c.371T>C
LMO7 transcript variant X3 XM_047430309.1:c.371= XM_047430309.1:c.371T>C
LMO7 transcript variant X22 XM_047430328.1:c.371= XM_047430328.1:c.371T>C
LMO7 transcript variant X4 XM_047430310.1:c.371= XM_047430310.1:c.371T>C
LMO7 transcript variant X5 XM_047430311.1:c.371= XM_047430311.1:c.371T>C
LMO7 transcript variant X6 XM_047430312.1:c.371= XM_047430312.1:c.371T>C
LMO7 transcript variant X11 XM_047430318.1:c.983= XM_047430318.1:c.983T>C
LMO7 transcript variant 4 NM_001330583.1:c.371= NM_001330583.1:c.371T>C
LMO7 transcript variant X12 XM_047430319.1:c.944= XM_047430319.1:c.944T>C
LMO7 transcript variant X9 XM_047430316.1:c.371= XM_047430316.1:c.371T>C
LMO7 transcript variant X10 XM_047430317.1:c.371= XM_047430317.1:c.371T>C
LIM domain only protein 7 isoform 3 NP_001293009.1:p.Val357= NP_001293009.1:p.Val357Ala
LIM domain only protein 7 isoform 2 NP_056667.2:p.Val124= NP_056667.2:p.Val124Ala
LIM domain only protein 7 isoform 2 NP_001353561.1:p.Val124= NP_001353561.1:p.Val124Ala
LIM domain only protein 7 isoform 5 NP_001353562.1:p.Val315= NP_001353562.1:p.Val315Ala
LIM domain only protein 7 isoform X17 XP_047286279.1:p.Val124= XP_047286279.1:p.Val124Ala
LIM domain only protein 7 isoform X17 XP_047286283.1:p.Val124= XP_047286283.1:p.Val124Ala
LIM domain only protein 7 isoform X7 XP_047286270.1:p.Val328= XP_047286270.1:p.Val328Ala
LIM domain only protein 7 isoform X17 XP_047286282.1:p.Val124= XP_047286282.1:p.Val124Ala
LIM domain only protein 7 isoform X8 XP_047286271.1:p.Val315= XP_047286271.1:p.Val315Ala
LIM domain only protein 7 isoform X1 XP_047286263.1:p.Val124= XP_047286263.1:p.Val124Ala
LIM domain only protein 7 isoform X20 XP_047286285.1:p.Val124= XP_047286285.1:p.Val124Ala
LIM domain only protein 7 isoform X2 XP_047286264.1:p.Val124= XP_047286264.1:p.Val124Ala
LIM domain only protein 7 isoform X3 XP_047286265.1:p.Val124= XP_047286265.1:p.Val124Ala
LIM domain only protein 7 isoform X17 XP_047286284.1:p.Val124= XP_047286284.1:p.Val124Ala
LIM domain only protein 7 isoform X4 XP_047286266.1:p.Val124= XP_047286266.1:p.Val124Ala
LIM domain only protein 7 isoform X5 XP_047286267.1:p.Val124= XP_047286267.1:p.Val124Ala
LIM domain only protein 7 isoform X6 XP_047286268.1:p.Val124= XP_047286268.1:p.Val124Ala
LIM domain only protein 7 isoform X11 XP_047286274.1:p.Val328= XP_047286274.1:p.Val328Ala
LIM domain only protein 7 isoform 4 NP_001317512.1:p.Val124= NP_001317512.1:p.Val124Ala
LIM domain only protein 7 isoform X12 XP_047286275.1:p.Val315= XP_047286275.1:p.Val315Ala
LIM domain only protein 7 isoform X9 XP_047286272.1:p.Val124= XP_047286272.1:p.Val124Ala
LIM domain only protein 7 isoform X10 XP_047286273.1:p.Val124= XP_047286273.1:p.Val124Ala
LMO7 transcript variant 7 NM_001366634.2:c.215+1093= NM_001366634.2:c.215+1093T>C
LMO7 transcript variant 8 NM_001366636.2:c.215+1093= NM_001366636.2:c.215+1093T>C
LMO7 transcript variant 1 NM_005358.5:c.1070+1093= NM_005358.5:c.1070+1093T>C
LMO7 transcript variant X16 XM_005266390.1:c.1070+1093= XM_005266390.1:c.1070+1093T>C
LMO7 transcript variant X19 XM_005266393.1:c.1070+1093= XM_005266393.1:c.1070+1093T>C
LMO7 transcript variant X20 XM_005266394.1:c.1070+1093= XM_005266394.1:c.1070+1093T>C
LMO7 transcript variant X21 XM_005266395.1:c.1070+1093= XM_005266395.1:c.1070+1093T>C
LMO7 transcript variant X22 XM_005266396.1:c.914+1093= XM_005266396.1:c.914+1093T>C
LMO7 transcript variant X23 XM_005266397.1:c.827+1093= XM_005266397.1:c.827+1093T>C
LMO7 transcript variant X24 XM_005266398.1:c.1070+1093= XM_005266398.1:c.1070+1093T>C
LMO7 transcript variant X25 XM_011535095.3:c.215+1093= XM_011535095.3:c.215+1093T>C
LMO7 transcript variant X14 XM_024449359.2:c.215+1093= XM_024449359.2:c.215+1093T>C
LMO7 transcript variant X39 XM_024449363.2:c.827+1093= XM_024449363.2:c.827+1093T>C
LMO7 transcript variant X13 XM_047430320.1:c.215+1093= XM_047430320.1:c.215+1093T>C
LMO7 transcript variant X15 XM_047430321.1:c.215+1093= XM_047430321.1:c.215+1093T>C
LMO7 transcript variant X16 XM_047430322.1:c.215+1093= XM_047430322.1:c.215+1093T>C
LMO7 transcript variant X18 XM_047430324.1:c.215+1093= XM_047430324.1:c.215+1093T>C
LMO7 transcript variant X19 XM_047430325.1:c.827+1093= XM_047430325.1:c.827+1093T>C
LMO7 transcript variant X24 XM_047430330.1:c.215+1093= XM_047430330.1:c.215+1093T>C
LMO7 transcript variant X26 XM_047430331.1:c.215+1093= XM_047430331.1:c.215+1093T>C
LMO7 transcript variant X27 XM_047430333.1:c.215+1093= XM_047430333.1:c.215+1093T>C
LMO7 transcript variant X28 XM_047430334.1:c.215+1093= XM_047430334.1:c.215+1093T>C
LMO7 transcript variant X29 XM_047430335.1:c.215+1093= XM_047430335.1:c.215+1093T>C
LMO7 transcript variant X30 XM_047430336.1:c.215+1093= XM_047430336.1:c.215+1093T>C
LMO7 transcript variant X31 XM_047430337.1:c.215+1093= XM_047430337.1:c.215+1093T>C
LMO7 transcript variant X32 XM_047430338.1:c.215+1093= XM_047430338.1:c.215+1093T>C
LMO7 transcript variant X33 XM_047430339.1:c.827+1093= XM_047430339.1:c.827+1093T>C
LMO7 transcript variant X34 XM_047430340.1:c.215+1093= XM_047430340.1:c.215+1093T>C
LMO7 transcript variant X35 XM_047430341.1:c.788+1093= XM_047430341.1:c.788+1093T>C
LMO7 transcript variant X36 XM_047430342.1:c.827+1093= XM_047430342.1:c.827+1093T>C
LMO7 transcript variant X37 XM_047430343.1:c.215+1093= XM_047430343.1:c.215+1093T>C
LMO7 transcript variant X38 XM_047430344.1:c.788+1093= XM_047430344.1:c.788+1093T>C
LMO7 transcript variant X40 XM_047430345.1:c.788+1093= XM_047430345.1:c.788+1093T>C
LMO7 transcript variant X41 XM_047430346.1:c.827+1093= XM_047430346.1:c.827+1093T>C
LMO7 transcript variant X42 XM_047430347.1:c.788+1093= XM_047430347.1:c.788+1093T>C
LMO7 transcript variant X43 XM_047430348.1:c.827+1093= XM_047430348.1:c.827+1093T>C
LMO7 transcript variant X44 XM_047430349.1:c.827+1093= XM_047430349.1:c.827+1093T>C
LMO7 transcript variant X45 XM_047430350.1:c.788+1093= XM_047430350.1:c.788+1093T>C
LMO7 transcript variant X46 XM_047430351.1:c.827+1093= XM_047430351.1:c.827+1093T>C
LMO7 transcript variant X47 XM_047430352.1:c.215+1093= XM_047430352.1:c.215+1093T>C
LMO7 transcript variant X48 XM_047430353.1:c.215+1093= XM_047430353.1:c.215+1093T>C
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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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740447966 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000013.10 - 76379770 Jul 13, 2019 (153)
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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
9694007, ss2740447966 NC_000013.10:76379769:T:C NC_000013.11:75805633:T:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1484819066

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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
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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.

Software version is: 2.0.1.post820+afb47a3d