Name: rs55639442
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.

rs55639442

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:75494208-75494227 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(T)₅ / del(T)₄ / delTTT / delTT…
del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupTT / dup(T)₄ / dup(T)₈ / dup(T)₁₀ / ins(T)₂₆
Variation Type: Indel Insertion and Deletion
Frequency: (T)₂₀=0.0026 (13/5008, 1000G)
(T)₂₀=0.4497 (1930/4292, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GDPD5 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	4292	TTTTTTTTTTTTTTTTTTTT=0.4497	TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0310, TTTTTTTTTTTTTTTTTT=0.5163, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTTTTTTT=0.0019, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	0.290837	0.340139	0.369024	32
European	Sub	4286	TTTTTTTTTTTTTTTTTTTT=0.4503	TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0306, TTTTTTTTTTTTTTTTTT=0.5161, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTTTTTTT=0.0019, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	0.290982	0.339811	0.369208	32
African	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
African Others	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
African American	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 2	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
South Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other	Sub	6	TTTTTTTTTTTTTTTTTTTT=0.0	TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.3, TTTTTTTTTTTTTTTTTT=0.7, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0	0.0	1.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	(T)₂₀=0.0026	delTT=0.9974
1000Genomes	African	Sub	1322	(T)₂₀=0.0038	delTT=0.9962
1000Genomes	East Asian	Sub	1008	(T)₂₀=0.0020	delTT=0.9980
1000Genomes	Europe	Sub	1006	(T)₂₀=0.0030	delTT=0.9970
1000Genomes	South Asian	Sub	978	(T)₂₀=0.002	delTT=0.998
1000Genomes	American	Sub	694	(T)₂₀=0.001	delTT=0.999
Allele Frequency Aggregator	Total	Global	4292	(T)₂₀=0.4497	del(T)₄=0.0000, delTTT=0.0310, delTT=0.5163, delT=0.0000, dupTT=0.0000, dup(T)₄=0.0019, dup(T)₈=0.0009, dup(T)₁₀=0.0002
Allele Frequency Aggregator	European	Sub	4286	(T)₂₀=0.4503	del(T)₄=0.0000, delTTT=0.0306, delTT=0.5161, delT=0.0000, dupTT=0.0000, dup(T)₄=0.0019, dup(T)₈=0.0009, dup(T)₁₀=0.0002
Allele Frequency Aggregator	Other	Sub	6	(T)₂₀=0.0	del(T)₄=0.0, delTTT=0.3, delTT=0.7, delT=0.0, dupTT=0.0, dup(T)₄=0.0, dup(T)₈=0.0, dup(T)₁₀=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(T)₂₀=0	del(T)₄=0, delTTT=0, delTT=0, delT=0, dupTT=0, dup(T)₄=0, dup(T)₈=0, dup(T)₁₀=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(T)₂₀=0	del(T)₄=0, delTTT=0, delTT=0, delT=0, dupTT=0, dup(T)₄=0, dup(T)₈=0, dup(T)₁₀=0
Allele Frequency Aggregator	South Asian	Sub	0	(T)₂₀=0	del(T)₄=0, delTTT=0, delTT=0, delT=0, dupTT=0, dup(T)₄=0, dup(T)₈=0, dup(T)₁₀=0
Allele Frequency Aggregator	African	Sub	0	(T)₂₀=0	del(T)₄=0, delTTT=0, delTT=0, delT=0, dupTT=0, dup(T)₄=0, dup(T)₈=0, dup(T)₁₀=0
Allele Frequency Aggregator	Asian	Sub	0	(T)₂₀=0	del(T)₄=0, delTTT=0, delTT=0, delT=0, dupTT=0, dup(T)₄=0, dup(T)₈=0, dup(T)₁₀=0

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 11	NC_000011.10:g.75494223_75494227del
GRCh38.p14 chr 11	NC_000011.10:g.75494224_75494227del
GRCh38.p14 chr 11	NC_000011.10:g.75494225_75494227del
GRCh38.p14 chr 11	NC_000011.10:g.75494226_75494227del
GRCh38.p14 chr 11	NC_000011.10:g.75494227del
GRCh38.p14 chr 11	NC_000011.10:g.75494226_75494227dup
GRCh38.p14 chr 11	NC_000011.10:g.75494224_75494227dup
GRCh38.p14 chr 11	NC_000011.10:g.75494220_75494227dup
GRCh38.p14 chr 11	NC_000011.10:g.75494218_75494227dup
GRCh38.p14 chr 11	NC_000011.10:g.75494227_75494228insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 11	NC_000011.9:g.75205268_75205272del
GRCh37.p13 chr 11	NC_000011.9:g.75205269_75205272del
GRCh37.p13 chr 11	NC_000011.9:g.75205270_75205272del
GRCh37.p13 chr 11	NC_000011.9:g.75205271_75205272del
GRCh37.p13 chr 11	NC_000011.9:g.75205272del
GRCh37.p13 chr 11	NC_000011.9:g.75205271_75205272dup
GRCh37.p13 chr 11	NC_000011.9:g.75205269_75205272dup
GRCh37.p13 chr 11	NC_000011.9:g.75205265_75205272dup
GRCh37.p13 chr 11	NC_000011.9:g.75205263_75205272dup
GRCh37.p13 chr 11	NC_000011.9:g.75205272_75205273insTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: GDPD5, glycerophosphodiester phosphodiesterase domain containing 5 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GDPD5 transcript variant 3	NM_001351168.1:c.-1037-38… NM_001351168.1:c.-1037-3892_-1037-3888del	N/A	Intron Variant
GDPD5 transcript variant 1	NM_030792.8:c.-144-3892_-… NM_030792.8:c.-144-3892_-144-3888del	N/A	Intron Variant
GDPD5 transcript variant 2	NM_001351167.2:c.	N/A	Genic Upstream Transcript Variant
GDPD5 transcript variant X7	XM_006718697.4:c.-389-389… XM_006718697.4:c.-389-3892_-389-3888del	N/A	Intron Variant
GDPD5 transcript variant X1	XM_011545276.3:c.-389-389… XM_011545276.3:c.-389-3892_-389-3888del	N/A	Intron Variant
GDPD5 transcript variant X4	XM_011545277.3:c.-389-389… XM_011545277.3:c.-389-3892_-389-3888del	N/A	Intron Variant
GDPD5 transcript variant X2	XM_011545278.3:c.-625-389… XM_011545278.3:c.-625-3892_-625-3888del	N/A	Intron Variant
GDPD5 transcript variant X3	XM_047427645.1:c.-144-389… XM_047427645.1:c.-144-3892_-144-3888del	N/A	Intron Variant
GDPD5 transcript variant X5	XM_047427646.1:c.-389-389… XM_047427646.1:c.-389-3892_-389-3888del	N/A	Intron Variant
GDPD5 transcript variant X8	XM_047427648.1:c.-389-389… XM_047427648.1:c.-389-3892_-389-3888del	N/A	Intron Variant
GDPD5 transcript variant X9	XM_047427649.1:c.-389-389… XM_047427649.1:c.-389-3892_-389-3888del	N/A	Intron Variant
GDPD5 transcript variant X12	XM_047427652.1:c.-625-389… XM_047427652.1:c.-625-3892_-625-3888del	N/A	Intron Variant
GDPD5 transcript variant X13	XM_047427653.1:c.-389-389… XM_047427653.1:c.-389-3892_-389-3888del	N/A	Intron Variant
GDPD5 transcript variant X14	XM_047427654.1:c.-144-389… XM_047427654.1:c.-144-3892_-144-3888del	N/A	Intron Variant
GDPD5 transcript variant X15	XM_011545280.2:c.	N/A	Genic Upstream Transcript Variant
GDPD5 transcript variant X16	XM_011545281.3:c.	N/A	Genic Upstream Transcript Variant
GDPD5 transcript variant X17	XM_011545286.2:c.	N/A	Genic Upstream Transcript Variant
GDPD5 transcript variant X6	XM_047427647.1:c.	N/A	Genic Upstream Transcript Variant
GDPD5 transcript variant X10	XM_047427650.1:c.	N/A	Genic Upstream Transcript Variant
GDPD5 transcript variant X11	XM_047427651.1:c.	N/A	Genic Upstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	(T)₂₀=	del(T)₅	del(T)₄	delTTT	delTT	delT	dupTT	dup(T)₄	dup(T)₈	dup(T)₁₀	ins(T)₂₆
GRCh38.p14 chr 11	NC_000011.10:g.75494208_75494227=	NC_000011.10:g.75494223_75494227del	NC_000011.10:g.75494224_75494227del	NC_000011.10:g.75494225_75494227del	NC_000011.10:g.75494226_75494227del	NC_000011.10:g.75494227del	NC_000011.10:g.75494226_75494227dup	NC_000011.10:g.75494224_75494227dup	NC_000011.10:g.75494220_75494227dup	NC_000011.10:g.75494218_75494227dup	NC_000011.10:g.75494227_75494228insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 11	NC_000011.9:g.75205253_75205272=	NC_000011.9:g.75205268_75205272del	NC_000011.9:g.75205269_75205272del	NC_000011.9:g.75205270_75205272del	NC_000011.9:g.75205271_75205272del	NC_000011.9:g.75205272del	NC_000011.9:g.75205271_75205272dup	NC_000011.9:g.75205269_75205272dup	NC_000011.9:g.75205265_75205272dup	NC_000011.9:g.75205263_75205272dup	NC_000011.9:g.75205272_75205273insTTTTTTTTTTTTTTTTTTTTTTTTTT
GDPD5 transcript variant 3	NM_001351168.1:c.-1037-3888=	NM_001351168.1:c.-1037-3892_-1037-3888del	NM_001351168.1:c.-1037-3891_-1037-3888del	NM_001351168.1:c.-1037-3890_-1037-3888del	NM_001351168.1:c.-1037-3889_-1037-3888del	NM_001351168.1:c.-1037-3888del	NM_001351168.1:c.-1037-3889_-1037-3888dup	NM_001351168.1:c.-1037-3891_-1037-3888dup	NM_001351168.1:c.-1037-3895_-1037-3888dup	NM_001351168.1:c.-1037-3897_-1037-3888dup	NM_001351168.1:c.-1037-3888_-1037-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript	NM_030792.6:c.-144-3888=	NM_030792.6:c.-144-3892_-144-3888del	NM_030792.6:c.-144-3891_-144-3888del	NM_030792.6:c.-144-3890_-144-3888del	NM_030792.6:c.-144-3889_-144-3888del	NM_030792.6:c.-144-3888del	NM_030792.6:c.-144-3889_-144-3888dup	NM_030792.6:c.-144-3891_-144-3888dup	NM_030792.6:c.-144-3895_-144-3888dup	NM_030792.6:c.-144-3897_-144-3888dup	NM_030792.6:c.-144-3888_-144-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant 1	NM_030792.8:c.-144-3888=	NM_030792.8:c.-144-3892_-144-3888del	NM_030792.8:c.-144-3891_-144-3888del	NM_030792.8:c.-144-3890_-144-3888del	NM_030792.8:c.-144-3889_-144-3888del	NM_030792.8:c.-144-3888del	NM_030792.8:c.-144-3889_-144-3888dup	NM_030792.8:c.-144-3891_-144-3888dup	NM_030792.8:c.-144-3895_-144-3888dup	NM_030792.8:c.-144-3897_-144-3888dup	NM_030792.8:c.-144-3888_-144-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X1	XM_005274313.1:c.-144-3888=	XM_005274313.1:c.-144-3892_-144-3888del	XM_005274313.1:c.-144-3891_-144-3888del	XM_005274313.1:c.-144-3890_-144-3888del	XM_005274313.1:c.-144-3889_-144-3888del	XM_005274313.1:c.-144-3888del	XM_005274313.1:c.-144-3889_-144-3888dup	XM_005274313.1:c.-144-3891_-144-3888dup	XM_005274313.1:c.-144-3895_-144-3888dup	XM_005274313.1:c.-144-3897_-144-3888dup	XM_005274313.1:c.-144-3888_-144-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X2	XM_005274314.1:c.-144-3888=	XM_005274314.1:c.-144-3892_-144-3888del	XM_005274314.1:c.-144-3891_-144-3888del	XM_005274314.1:c.-144-3890_-144-3888del	XM_005274314.1:c.-144-3889_-144-3888del	XM_005274314.1:c.-144-3888del	XM_005274314.1:c.-144-3889_-144-3888dup	XM_005274314.1:c.-144-3891_-144-3888dup	XM_005274314.1:c.-144-3895_-144-3888dup	XM_005274314.1:c.-144-3897_-144-3888dup	XM_005274314.1:c.-144-3888_-144-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X3	XM_005274315.1:c.-144-3888=	XM_005274315.1:c.-144-3892_-144-3888del	XM_005274315.1:c.-144-3891_-144-3888del	XM_005274315.1:c.-144-3890_-144-3888del	XM_005274315.1:c.-144-3889_-144-3888del	XM_005274315.1:c.-144-3888del	XM_005274315.1:c.-144-3889_-144-3888dup	XM_005274315.1:c.-144-3891_-144-3888dup	XM_005274315.1:c.-144-3895_-144-3888dup	XM_005274315.1:c.-144-3897_-144-3888dup	XM_005274315.1:c.-144-3888_-144-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X5	XM_005274317.1:c.-389-3888=	XM_005274317.1:c.-389-3892_-389-3888del	XM_005274317.1:c.-389-3891_-389-3888del	XM_005274317.1:c.-389-3890_-389-3888del	XM_005274317.1:c.-389-3889_-389-3888del	XM_005274317.1:c.-389-3888del	XM_005274317.1:c.-389-3889_-389-3888dup	XM_005274317.1:c.-389-3891_-389-3888dup	XM_005274317.1:c.-389-3895_-389-3888dup	XM_005274317.1:c.-389-3897_-389-3888dup	XM_005274317.1:c.-389-3888_-389-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X7	XM_006718697.4:c.-389-3888=	XM_006718697.4:c.-389-3892_-389-3888del	XM_006718697.4:c.-389-3891_-389-3888del	XM_006718697.4:c.-389-3890_-389-3888del	XM_006718697.4:c.-389-3889_-389-3888del	XM_006718697.4:c.-389-3888del	XM_006718697.4:c.-389-3889_-389-3888dup	XM_006718697.4:c.-389-3891_-389-3888dup	XM_006718697.4:c.-389-3895_-389-3888dup	XM_006718697.4:c.-389-3897_-389-3888dup	XM_006718697.4:c.-389-3888_-389-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X1	XM_011545276.3:c.-389-3888=	XM_011545276.3:c.-389-3892_-389-3888del	XM_011545276.3:c.-389-3891_-389-3888del	XM_011545276.3:c.-389-3890_-389-3888del	XM_011545276.3:c.-389-3889_-389-3888del	XM_011545276.3:c.-389-3888del	XM_011545276.3:c.-389-3889_-389-3888dup	XM_011545276.3:c.-389-3891_-389-3888dup	XM_011545276.3:c.-389-3895_-389-3888dup	XM_011545276.3:c.-389-3897_-389-3888dup	XM_011545276.3:c.-389-3888_-389-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X4	XM_011545277.3:c.-389-3888=	XM_011545277.3:c.-389-3892_-389-3888del	XM_011545277.3:c.-389-3891_-389-3888del	XM_011545277.3:c.-389-3890_-389-3888del	XM_011545277.3:c.-389-3889_-389-3888del	XM_011545277.3:c.-389-3888del	XM_011545277.3:c.-389-3889_-389-3888dup	XM_011545277.3:c.-389-3891_-389-3888dup	XM_011545277.3:c.-389-3895_-389-3888dup	XM_011545277.3:c.-389-3897_-389-3888dup	XM_011545277.3:c.-389-3888_-389-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X2	XM_011545278.3:c.-625-3888=	XM_011545278.3:c.-625-3892_-625-3888del	XM_011545278.3:c.-625-3891_-625-3888del	XM_011545278.3:c.-625-3890_-625-3888del	XM_011545278.3:c.-625-3889_-625-3888del	XM_011545278.3:c.-625-3888del	XM_011545278.3:c.-625-3889_-625-3888dup	XM_011545278.3:c.-625-3891_-625-3888dup	XM_011545278.3:c.-625-3895_-625-3888dup	XM_011545278.3:c.-625-3897_-625-3888dup	XM_011545278.3:c.-625-3888_-625-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X3	XM_047427645.1:c.-144-3888=	XM_047427645.1:c.-144-3892_-144-3888del	XM_047427645.1:c.-144-3891_-144-3888del	XM_047427645.1:c.-144-3890_-144-3888del	XM_047427645.1:c.-144-3889_-144-3888del	XM_047427645.1:c.-144-3888del	XM_047427645.1:c.-144-3889_-144-3888dup	XM_047427645.1:c.-144-3891_-144-3888dup	XM_047427645.1:c.-144-3895_-144-3888dup	XM_047427645.1:c.-144-3897_-144-3888dup	XM_047427645.1:c.-144-3888_-144-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X5	XM_047427646.1:c.-389-3888=	XM_047427646.1:c.-389-3892_-389-3888del	XM_047427646.1:c.-389-3891_-389-3888del	XM_047427646.1:c.-389-3890_-389-3888del	XM_047427646.1:c.-389-3889_-389-3888del	XM_047427646.1:c.-389-3888del	XM_047427646.1:c.-389-3889_-389-3888dup	XM_047427646.1:c.-389-3891_-389-3888dup	XM_047427646.1:c.-389-3895_-389-3888dup	XM_047427646.1:c.-389-3897_-389-3888dup	XM_047427646.1:c.-389-3888_-389-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X8	XM_047427648.1:c.-389-3888=	XM_047427648.1:c.-389-3892_-389-3888del	XM_047427648.1:c.-389-3891_-389-3888del	XM_047427648.1:c.-389-3890_-389-3888del	XM_047427648.1:c.-389-3889_-389-3888del	XM_047427648.1:c.-389-3888del	XM_047427648.1:c.-389-3889_-389-3888dup	XM_047427648.1:c.-389-3891_-389-3888dup	XM_047427648.1:c.-389-3895_-389-3888dup	XM_047427648.1:c.-389-3897_-389-3888dup	XM_047427648.1:c.-389-3888_-389-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X9	XM_047427649.1:c.-389-3888=	XM_047427649.1:c.-389-3892_-389-3888del	XM_047427649.1:c.-389-3891_-389-3888del	XM_047427649.1:c.-389-3890_-389-3888del	XM_047427649.1:c.-389-3889_-389-3888del	XM_047427649.1:c.-389-3888del	XM_047427649.1:c.-389-3889_-389-3888dup	XM_047427649.1:c.-389-3891_-389-3888dup	XM_047427649.1:c.-389-3895_-389-3888dup	XM_047427649.1:c.-389-3897_-389-3888dup	XM_047427649.1:c.-389-3888_-389-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X12	XM_047427652.1:c.-625-3888=	XM_047427652.1:c.-625-3892_-625-3888del	XM_047427652.1:c.-625-3891_-625-3888del	XM_047427652.1:c.-625-3890_-625-3888del	XM_047427652.1:c.-625-3889_-625-3888del	XM_047427652.1:c.-625-3888del	XM_047427652.1:c.-625-3889_-625-3888dup	XM_047427652.1:c.-625-3891_-625-3888dup	XM_047427652.1:c.-625-3895_-625-3888dup	XM_047427652.1:c.-625-3897_-625-3888dup	XM_047427652.1:c.-625-3888_-625-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X13	XM_047427653.1:c.-389-3888=	XM_047427653.1:c.-389-3892_-389-3888del	XM_047427653.1:c.-389-3891_-389-3888del	XM_047427653.1:c.-389-3890_-389-3888del	XM_047427653.1:c.-389-3889_-389-3888del	XM_047427653.1:c.-389-3888del	XM_047427653.1:c.-389-3889_-389-3888dup	XM_047427653.1:c.-389-3891_-389-3888dup	XM_047427653.1:c.-389-3895_-389-3888dup	XM_047427653.1:c.-389-3897_-389-3888dup	XM_047427653.1:c.-389-3888_-389-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA
GDPD5 transcript variant X14	XM_047427654.1:c.-144-3888=	XM_047427654.1:c.-144-3892_-144-3888del	XM_047427654.1:c.-144-3891_-144-3888del	XM_047427654.1:c.-144-3890_-144-3888del	XM_047427654.1:c.-144-3889_-144-3888del	XM_047427654.1:c.-144-3888del	XM_047427654.1:c.-144-3889_-144-3888dup	XM_047427654.1:c.-144-3891_-144-3888dup	XM_047427654.1:c.-144-3895_-144-3888dup	XM_047427654.1:c.-144-3897_-144-3888dup	XM_047427654.1:c.-144-3888_-144-3887insAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

35 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77923735	Dec 05, 2007 (129)
2	HGSV	ss79753324	Dec 15, 2007 (130)
3	HGSV	ss80986662	Dec 15, 2007 (130)
4	HGSV	ss82029089	Dec 15, 2007 (130)
5	HGSV	ss83516264	Dec 15, 2007 (130)
6	PJP	ss294710262	May 31, 2013 (138)
7	1000GENOMES	ss1371151078	Aug 21, 2014 (142)
8	SWEGEN	ss3008361076	Nov 08, 2017 (151)
9	MCHAISSO	ss3064523313	Nov 08, 2017 (151)
10	MCHAISSO	ss3065436814	Nov 08, 2017 (151)
11	ACPOP	ss3738312485	Jul 13, 2019 (153)
12	ACPOP	ss3738312486	Jul 13, 2019 (153)
13	ACPOP	ss3738312487	Jul 13, 2019 (153)
14	PACBIO	ss3786994212	Jul 13, 2019 (153)
15	PACBIO	ss3792128523	Jul 13, 2019 (153)
16	PACBIO	ss3792128524	Jul 13, 2019 (153)
17	PACBIO	ss3797010873	Jul 13, 2019 (153)
18	KHV_HUMAN_GENOMES	ss3814827808	Jul 13, 2019 (153)
19	EVA	ss3832704777	Apr 26, 2020 (154)
20	GNOMAD	ss4237976892	Apr 26, 2021 (155)
21	GNOMAD	ss4237976893	Apr 26, 2021 (155)
22	GNOMAD	ss4237976894	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5202732099	Apr 26, 2021 (155)
24	TOMMO_GENOMICS	ss5202732100	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5202732101	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5202732102	Apr 26, 2021 (155)
27	1000G_HIGH_COVERAGE	ss5287994755	Oct 16, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5287994756	Oct 16, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5287994757	Oct 16, 2022 (156)
30	TOMMO_GENOMICS	ss5750853063	Oct 16, 2022 (156)
31	TOMMO_GENOMICS	ss5750853064	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5750853065	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5750853066	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5750853067	Oct 16, 2022 (156)
35	EVA	ss5850039649	Oct 16, 2022 (156)
36	1000Genomes	NC_000011.9 - 75205253	Oct 12, 2018 (152)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 384447243 (NC_000011.10:75494207::TTTTTTTT 1/82022) Row 384447244 (NC_000011.10:75494207:TTTT: 170/82004) Row 384447245 (NC_000011.10:75494207:TTTTT: 2/82010)	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 384447243 (NC_000011.10:75494207::TTTTTTTT 1/82022) Row 384447244 (NC_000011.10:75494207:TTTT: 170/82004) Row 384447245 (NC_000011.10:75494207:TTTTT: 2/82010)	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 384447243 (NC_000011.10:75494207::TTTTTTTT 1/82022) Row 384447244 (NC_000011.10:75494207:TTTT: 170/82004) Row 384447245 (NC_000011.10:75494207:TTTTT: 2/82010)	-	Apr 26, 2021 (155)
40	Northern Sweden Submission ignored due to conflicting rows: Row 11597350 (NC_000011.9:75205252:TT: 219/580) Row 11597351 (NC_000011.9:75205252::TTTTTTTTTTTTTTTTTTTTTTTTTT 1/580) Row 11597352 (NC_000011.9:75205252:TTT: 19/580)	-	Jul 13, 2019 (153)
41	Northern Sweden Submission ignored due to conflicting rows: Row 11597350 (NC_000011.9:75205252:TT: 219/580) Row 11597351 (NC_000011.9:75205252::TTTTTTTTTTTTTTTTTTTTTTTTTT 1/580) Row 11597352 (NC_000011.9:75205252:TTT: 19/580)	-	Jul 13, 2019 (153)
42	Northern Sweden Submission ignored due to conflicting rows: Row 11597350 (NC_000011.9:75205252:TT: 219/580) Row 11597351 (NC_000011.9:75205252::TTTTTTTTTTTTTTTTTTTTTTTTTT 1/580) Row 11597352 (NC_000011.9:75205252:TTT: 19/580)	-	Jul 13, 2019 (153)
43	8.3KJPN Submission ignored due to conflicting rows: Row 60701406 (NC_000011.9:75205252:TT: 12159/16270) Row 60701407 (NC_000011.9:75205252:TTT: 2484/16270) Row 60701408 (NC_000011.9:75205252:T: 18/16270)...	-	Apr 26, 2021 (155)
44	8.3KJPN Submission ignored due to conflicting rows: Row 60701406 (NC_000011.9:75205252:TT: 12159/16270) Row 60701407 (NC_000011.9:75205252:TTT: 2484/16270) Row 60701408 (NC_000011.9:75205252:T: 18/16270)...	-	Apr 26, 2021 (155)
45	8.3KJPN Submission ignored due to conflicting rows: Row 60701406 (NC_000011.9:75205252:TT: 12159/16270) Row 60701407 (NC_000011.9:75205252:TTT: 2484/16270) Row 60701408 (NC_000011.9:75205252:T: 18/16270)...	-	Apr 26, 2021 (155)
46	8.3KJPN Submission ignored due to conflicting rows: Row 60701406 (NC_000011.9:75205252:TT: 12159/16270) Row 60701407 (NC_000011.9:75205252:TTT: 2484/16270) Row 60701408 (NC_000011.9:75205252:T: 18/16270)...	-	Apr 26, 2021 (155)
47	14KJPN Submission ignored due to conflicting rows: Row 84690167 (NC_000011.10:75494207:TT: 21263/28218) Row 84690168 (NC_000011.10:75494207:TTT: 4721/28218) Row 84690169 (NC_000011.10:75494207:T: 27/28218)...	-	Oct 16, 2022 (156)
48	14KJPN Submission ignored due to conflicting rows: Row 84690167 (NC_000011.10:75494207:TT: 21263/28218) Row 84690168 (NC_000011.10:75494207:TTT: 4721/28218) Row 84690169 (NC_000011.10:75494207:T: 27/28218)...	-	Oct 16, 2022 (156)
49	14KJPN Submission ignored due to conflicting rows: Row 84690167 (NC_000011.10:75494207:TT: 21263/28218) Row 84690168 (NC_000011.10:75494207:TTT: 4721/28218) Row 84690169 (NC_000011.10:75494207:T: 27/28218)...	-	Oct 16, 2022 (156)
50	14KJPN Submission ignored due to conflicting rows: Row 84690167 (NC_000011.10:75494207:TT: 21263/28218) Row 84690168 (NC_000011.10:75494207:TTT: 4721/28218) Row 84690169 (NC_000011.10:75494207:T: 27/28218)...	-	Oct 16, 2022 (156)
51	14KJPN Submission ignored due to conflicting rows: Row 84690167 (NC_000011.10:75494207:TT: 21263/28218) Row 84690168 (NC_000011.10:75494207:TTT: 4721/28218) Row 84690169 (NC_000011.10:75494207:T: 27/28218)...	-	Oct 16, 2022 (156)
52	ALFA	NC_000011.10 - 75494208	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)
rs59519610	May 25, 2008 (130)
rs66664031	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4237976894	NC_000011.10:75494207:TTTTT:	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4237976893, ss5287994757, ss5750853066	NC_000011.10:75494207:TTTT:	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
11958861264	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3008361076, ss3738312487, ss5202732100	NC_000011.9:75205252:TTT:	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5287994755, ss5750853064	NC_000011.10:75494207:TTT:	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
11958861264	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss294710262	NC_000011.8:74882900:TT:	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss77923735, ss79753324, ss80986662, ss82029089, ss83516264	NC_000011.8:74882918:TT:	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
54465307, ss1371151078, ss3738312485, ss3786994212, ss3792128523, ss3797010873, ss3832704777, ss5202732099	NC_000011.9:75205252:TT:	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3064523313, ss3065436814, ss3814827808, ss5750853063, ss5850039649	NC_000011.10:75494207:TT:	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
11958861264	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3792128524, ss5202732101	NC_000011.9:75205252:T:	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5287994756, ss5750853065	NC_000011.10:75494207:T:	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
11958861264	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5202732102	NC_000011.9:75205252::TT	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss5750853067	NC_000011.10:75494207::TT	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
11958861264	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
11958861264	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4237976892	NC_000011.10:75494207::TTTTTTTT	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
11958861264	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
11958861264	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3738312486	NC_000011.9:75205252::TTTTTTTTTTTT… NC_000011.9:75205252::TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000011.10:75494207:TTTTTTTTTTTT… NC_000011.10:75494207:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs55639442

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs55639442