Name: rs1192437542
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.

rs1192437542

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:19318114-19318134 (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)₁₂ / del(T)₁₁ / del(T)₇ / de…
del(T)₁₂ / del(T)₁₁ / del(T)₇ / del(T)₆ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / ins(T)₂₆
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₂=0.000011 (3/264690, TOPMED)
dupTTT=0.00464 (80/17236, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SUGP1 : 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	17236	TTTTTTTTTTTTTTTTTTTTT=0.99536	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTT=0.00464, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.993543	0.000239	0.006218	21
European	Sub	13025	TTTTTTTTTTTTTTTTTTTTT=0.99386	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTT=0.00614, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.991371	0.00032	0.008309	16
African	Sub	2806	TTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	108	TTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African American	Sub	2698	TTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	102	TTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	78	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	140	TTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	590	TTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	90	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	483	TTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	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
TopMed	Global	Study-wide	264690	(T)₂₁=0.999989	del(T)₁₂=0.000011
Allele Frequency Aggregator	Total	Global	17236	(T)₂₁=0.99536	del(T)₁₂=0.00000, del(T)₁₁=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00000, dupTT=0.00000, dupTTT=0.00464, dup(T)₄=0.00000
Allele Frequency Aggregator	European	Sub	13025	(T)₂₁=0.99386	del(T)₁₂=0.00000, del(T)₁₁=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00000, dupTT=0.00000, dupTTT=0.00614, dup(T)₄=0.00000
Allele Frequency Aggregator	African	Sub	2806	(T)₂₁=1.0000	del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	590	(T)₂₁=1.000	del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Other	Sub	483	(T)₂₁=1.000	del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	140	(T)₂₁=1.000	del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Asian	Sub	102	(T)₂₁=1.000	del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	South Asian	Sub	90	(T)₂₁=1.00	del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=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 19	NC_000019.10:g.19318123_19318134del
GRCh38.p14 chr 19	NC_000019.10:g.19318124_19318134del
GRCh38.p14 chr 19	NC_000019.10:g.19318128_19318134del
GRCh38.p14 chr 19	NC_000019.10:g.19318129_19318134del
GRCh38.p14 chr 19	NC_000019.10:g.19318131_19318134del
GRCh38.p14 chr 19	NC_000019.10:g.19318132_19318134del
GRCh38.p14 chr 19	NC_000019.10:g.19318133_19318134del
GRCh38.p14 chr 19	NC_000019.10:g.19318134del
GRCh38.p14 chr 19	NC_000019.10:g.19318134dup
GRCh38.p14 chr 19	NC_000019.10:g.19318133_19318134dup
GRCh38.p14 chr 19	NC_000019.10:g.19318132_19318134dup
GRCh38.p14 chr 19	NC_000019.10:g.19318131_19318134dup
GRCh38.p14 chr 19	NC_000019.10:g.19318130_19318134dup
GRCh38.p14 chr 19	NC_000019.10:g.19318129_19318134dup
GRCh38.p14 chr 19	NC_000019.10:g.19318128_19318134dup
GRCh38.p14 chr 19	NC_000019.10:g.19318127_19318134dup
GRCh38.p14 chr 19	NC_000019.10:g.19318126_19318134dup
GRCh38.p14 chr 19	NC_000019.10:g.19318134_19318135insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.19428932_19428943del
GRCh37.p13 chr 19	NC_000019.9:g.19428933_19428943del
GRCh37.p13 chr 19	NC_000019.9:g.19428937_19428943del
GRCh37.p13 chr 19	NC_000019.9:g.19428938_19428943del
GRCh37.p13 chr 19	NC_000019.9:g.19428940_19428943del
GRCh37.p13 chr 19	NC_000019.9:g.19428941_19428943del
GRCh37.p13 chr 19	NC_000019.9:g.19428942_19428943del
GRCh37.p13 chr 19	NC_000019.9:g.19428943del
GRCh37.p13 chr 19	NC_000019.9:g.19428943dup
GRCh37.p13 chr 19	NC_000019.9:g.19428942_19428943dup
GRCh37.p13 chr 19	NC_000019.9:g.19428941_19428943dup
GRCh37.p13 chr 19	NC_000019.9:g.19428940_19428943dup
GRCh37.p13 chr 19	NC_000019.9:g.19428939_19428943dup
GRCh37.p13 chr 19	NC_000019.9:g.19428938_19428943dup
GRCh37.p13 chr 19	NC_000019.9:g.19428937_19428943dup
GRCh37.p13 chr 19	NC_000019.9:g.19428936_19428943dup
GRCh37.p13 chr 19	NC_000019.9:g.19428935_19428943dup
GRCh37.p13 chr 19	NC_000019.9:g.19428943_19428944insTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: SUGP1, SURP and G-patch domain containing 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SUGP1 transcript	NM_172231.4:c.35-1532_35-… NM_172231.4:c.35-1532_35-1521del	N/A	Intron Variant
SUGP1 transcript variant X1	XM_047439142.1: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)₂₁=	del(T)₁₂	del(T)₁₁	del(T)₇	del(T)₆	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	ins(T)₂₆
GRCh38.p14 chr 19	NC_000019.10:g.19318114_19318134=	NC_000019.10:g.19318123_19318134del	NC_000019.10:g.19318124_19318134del	NC_000019.10:g.19318128_19318134del	NC_000019.10:g.19318129_19318134del	NC_000019.10:g.19318131_19318134del	NC_000019.10:g.19318132_19318134del	NC_000019.10:g.19318133_19318134del	NC_000019.10:g.19318134del	NC_000019.10:g.19318134dup	NC_000019.10:g.19318133_19318134dup	NC_000019.10:g.19318132_19318134dup	NC_000019.10:g.19318131_19318134dup	NC_000019.10:g.19318130_19318134dup	NC_000019.10:g.19318129_19318134dup	NC_000019.10:g.19318128_19318134dup	NC_000019.10:g.19318127_19318134dup	NC_000019.10:g.19318126_19318134dup	NC_000019.10:g.19318134_19318135insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.19428923_19428943=	NC_000019.9:g.19428932_19428943del	NC_000019.9:g.19428933_19428943del	NC_000019.9:g.19428937_19428943del	NC_000019.9:g.19428938_19428943del	NC_000019.9:g.19428940_19428943del	NC_000019.9:g.19428941_19428943del	NC_000019.9:g.19428942_19428943del	NC_000019.9:g.19428943del	NC_000019.9:g.19428943dup	NC_000019.9:g.19428942_19428943dup	NC_000019.9:g.19428941_19428943dup	NC_000019.9:g.19428940_19428943dup	NC_000019.9:g.19428939_19428943dup	NC_000019.9:g.19428938_19428943dup	NC_000019.9:g.19428937_19428943dup	NC_000019.9:g.19428936_19428943dup	NC_000019.9:g.19428935_19428943dup	NC_000019.9:g.19428943_19428944insTTTTTTTTTTTTTTTTTTTTTTTTTT
SUGP1 transcript	NM_172231.3:c.35-1521=	NM_172231.3:c.35-1532_35-1521del	NM_172231.3:c.35-1531_35-1521del	NM_172231.3:c.35-1527_35-1521del	NM_172231.3:c.35-1526_35-1521del	NM_172231.3:c.35-1524_35-1521del	NM_172231.3:c.35-1523_35-1521del	NM_172231.3:c.35-1522_35-1521del	NM_172231.3:c.35-1521del	NM_172231.3:c.35-1521dup	NM_172231.3:c.35-1522_35-1521dup	NM_172231.3:c.35-1523_35-1521dup	NM_172231.3:c.35-1524_35-1521dup	NM_172231.3:c.35-1525_35-1521dup	NM_172231.3:c.35-1526_35-1521dup	NM_172231.3:c.35-1527_35-1521dup	NM_172231.3:c.35-1528_35-1521dup	NM_172231.3:c.35-1529_35-1521dup	NM_172231.3:c.35-1521_35-1520insAAAAAAAAAAAAAAAAAAAAAAAAAA
SUGP1 transcript	NM_172231.4:c.35-1521=	NM_172231.4:c.35-1532_35-1521del	NM_172231.4:c.35-1531_35-1521del	NM_172231.4:c.35-1527_35-1521del	NM_172231.4:c.35-1526_35-1521del	NM_172231.4:c.35-1524_35-1521del	NM_172231.4:c.35-1523_35-1521del	NM_172231.4:c.35-1522_35-1521del	NM_172231.4:c.35-1521del	NM_172231.4:c.35-1521dup	NM_172231.4:c.35-1522_35-1521dup	NM_172231.4:c.35-1523_35-1521dup	NM_172231.4:c.35-1524_35-1521dup	NM_172231.4:c.35-1525_35-1521dup	NM_172231.4:c.35-1526_35-1521dup	NM_172231.4:c.35-1527_35-1521dup	NM_172231.4:c.35-1528_35-1521dup	NM_172231.4:c.35-1529_35-1521dup	NM_172231.4:c.35-1521_35-1520insAAAAAAAAAAAAAAAAAAAAAAAAAA
SUGP1 transcript variant X2	XM_005260003.1:c.-688-1521=	XM_005260003.1:c.-688-1532_-688-1521del	XM_005260003.1:c.-688-1531_-688-1521del	XM_005260003.1:c.-688-1527_-688-1521del	XM_005260003.1:c.-688-1526_-688-1521del	XM_005260003.1:c.-688-1524_-688-1521del	XM_005260003.1:c.-688-1523_-688-1521del	XM_005260003.1:c.-688-1522_-688-1521del	XM_005260003.1:c.-688-1521del	XM_005260003.1:c.-688-1521dup	XM_005260003.1:c.-688-1522_-688-1521dup	XM_005260003.1:c.-688-1523_-688-1521dup	XM_005260003.1:c.-688-1524_-688-1521dup	XM_005260003.1:c.-688-1525_-688-1521dup	XM_005260003.1:c.-688-1526_-688-1521dup	XM_005260003.1:c.-688-1527_-688-1521dup	XM_005260003.1:c.-688-1528_-688-1521dup	XM_005260003.1:c.-688-1529_-688-1521dup	XM_005260003.1:c.-688-1521_-688-1520insAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

30 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss3017218655	Nov 08, 2017 (151)
2	EVA_DECODE	ss3702488710	Jul 13, 2019 (153)
3	EVA_DECODE	ss3702488713	Jul 13, 2019 (153)
4	PACBIO	ss3793405465	Jul 13, 2019 (153)
5	PACBIO	ss3798292244	Jul 13, 2019 (153)
6	KOGIC	ss3981008872	Apr 27, 2020 (154)
7	KOGIC	ss3981008876	Apr 27, 2020 (154)
8	GNOMAD	ss4328845517	Apr 27, 2021 (155)
9	GNOMAD	ss4328845518	Apr 27, 2021 (155)
10	GNOMAD	ss4328845519	Apr 27, 2021 (155)
11	GNOMAD	ss4328845520	Apr 27, 2021 (155)
12	GNOMAD	ss4328845536	Apr 27, 2021 (155)
13	GNOMAD	ss4328845537	Apr 27, 2021 (155)
14	GNOMAD	ss4328845538	Apr 27, 2021 (155)
15	GNOMAD	ss4328845539	Apr 27, 2021 (155)
16	GNOMAD	ss4328845540	Apr 27, 2021 (155)
17	GNOMAD	ss4328845541	Apr 27, 2021 (155)
18	GNOMAD	ss4328845543	Apr 27, 2021 (155)
19	GNOMAD	ss4328845544	Apr 27, 2021 (155)
20	GNOMAD	ss4328845545	Apr 27, 2021 (155)
21	GNOMAD	ss4328845546	Apr 27, 2021 (155)
22	GNOMAD	ss4328845547	Apr 27, 2021 (155)
23	GNOMAD	ss4328845548	Apr 27, 2021 (155)
24	TOPMED	ss5070236870	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5227089037	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5227089038	Apr 27, 2021 (155)
27	HUGCELL_USP	ss5499343734	Oct 16, 2022 (156)
28	HUGCELL_USP	ss5499343738	Oct 16, 2022 (156)
29	TOMMO_GENOMICS	ss5785491801	Oct 16, 2022 (156)
30	TOMMO_GENOMICS	ss5785491802	Oct 16, 2022 (156)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 536072709 (NC_000019.10:19318113::T 786/90698) Row 536072710 (NC_000019.10:19318113::TT 153/90672) Row 536072711 (NC_000019.10:19318113::TTT 299/90442)...	-	Apr 27, 2021 (155)
47	Korean Genome Project Submission ignored due to conflicting rows: Row 37386873 (NC_000019.10:19318114::T 132/1824) Row 37386877 (NC_000019.10:19318113:T: 178/1824)	-	Apr 27, 2020 (154)
48	Korean Genome Project Submission ignored due to conflicting rows: Row 37386873 (NC_000019.10:19318114::T 132/1824) Row 37386877 (NC_000019.10:19318113:T: 178/1824)	-	Apr 27, 2020 (154)
49	8.3KJPN Submission ignored due to conflicting rows: Row 85058344 (NC_000019.9:19428922:T: 83/16342) Row 85058345 (NC_000019.9:19428922::T 299/16342)	-	Apr 27, 2021 (155)
50	8.3KJPN Submission ignored due to conflicting rows: Row 85058344 (NC_000019.9:19428922:T: 83/16342) Row 85058345 (NC_000019.9:19428922::T 299/16342)	-	Apr 27, 2021 (155)
51	14KJPN Submission ignored due to conflicting rows: Row 119328905 (NC_000019.10:19318113:T: 134/25228) Row 119328906 (NC_000019.10:19318113::T 470/25228)	-	Oct 16, 2022 (156)
52	14KJPN Submission ignored due to conflicting rows: Row 119328905 (NC_000019.10:19318113:T: 134/25228) Row 119328906 (NC_000019.10:19318113::T 470/25228)	-	Oct 16, 2022 (156)
53	TopMed	NC_000019.10 - 19318114	Apr 27, 2021 (155)
54	ALFA	NC_000019.10 - 19318114	Apr 27, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
285782534, ss4328845548, ss5070236870	NC_000019.10:19318113:TTTTTTTTTTTT:	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
3066521799	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
3066521799	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4328845547	NC_000019.10:19318113:TTTTTTT:	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
3066521799	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
3066521799	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4328845546	NC_000019.10:19318113:TTTT:	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
3066521799	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4328845545	NC_000019.10:19318113:TTT:	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
3066521799	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4328845544	NC_000019.10:19318113:TT:	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
3066521799	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3017218655, ss3793405465, ss3798292244, ss5227089037	NC_000019.9:19428922:T:	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3702488710, ss3981008876, ss4328845543, ss5499343738, ss5785491801	NC_000019.10:19318113:T:	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
3066521799	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss5227089038	NC_000019.9:19428922::T	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328845517, ss5499343734, ss5785491802	NC_000019.10:19318113::T	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
3066521799	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3981008872	NC_000019.10:19318114::T	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328845518	NC_000019.10:19318113::TT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
3066521799	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328845519	NC_000019.10:19318113::TTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
3066521799	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328845520	NC_000019.10:19318113::TTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3066521799	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328845536	NC_000019.10:19318113::TTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328845537	NC_000019.10:19318113::TTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328845538	NC_000019.10:19318113::TTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328845539	NC_000019.10:19318113::TTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328845540	NC_000019.10:19318113::TTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3702488713	NC_000019.10:19318114::TTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328845541	NC_000019.10:19318113::TTTTTTTTTTT… NC_000019.10:19318113::TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:19318113:TTTTTTTTTTTT… NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs1192437542

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

rs1192437542