Name: rs1553365373
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.

rs1553365373

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:235570863-235570881 (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(GT)₄ / del(GT)₃ / delGTGT / de…
del(GT)₄ / del(GT)₃ / delGTGT / delGT / dupGT / dupGTGT / dup(GT)₃ / dup(GT)₄ / dup(GT)₅ / dup(GT)₆ / dup(GT)₇ / dup(GT)₈
Variation Type: Indel Insertion and Deletion
Frequency: dupGT=0.02043 (212/10375, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GNG4 : 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	10375	TGTGTGTGTGTGTGTGTGT=0.97533	TGTGTGTGTGT=0.00000, TGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGT=0.02043, TGTGTGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00424, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000	0.983423	0.001076	0.015501	32
European	Sub	8117	TGTGTGTGTGTGTGTGTGT=0.9685	TGTGTGTGTGT=0.0000, TGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGT=0.0261, TGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0054, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	0.978106	0.001422	0.020472	24
African	Sub	1090	TGTGTGTGTGTGTGTGTGT=1.0000	TGTGTGTGTGT=0.0000, TGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	46	TGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGT=0.00, TGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1044	TGTGTGTGTGTGTGTGTGT=1.0000	TGTGTGTGTGT=0.0000, TGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	80	TGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGT=0.00, TGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	70	TGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGT=0.00, TGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	10	TGTGTGTGTGTGTGTGTGT=1.0	TGTGTGTGTGT=0.0, TGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	118	TGTGTGTGTGTGTGTGTGT=1.000	TGTGTGTGTGT=0.000, TGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	544	TGTGTGTGTGTGTGTGTGT=1.000	TGTGTGTGTGT=0.000, TGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	76	TGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGT=0.00, TGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Other	Sub	350	TGTGTGTGTGTGTGTGTGT=1.000	TGTGTGTGTGT=0.000, TGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=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
Allele Frequency Aggregator	Total	Global	10375	(TG)₉T=0.97533	del(GT)₄=0.00000, del(GT)₃=0.00000, delGTGT=0.00000, delGT=0.00000, dupGT=0.02043, dupGTGT=0.00000, dup(GT)₃=0.00000, dup(GT)₄=0.00000, dup(GT)₅=0.00424, dup(GT)₆=0.00000, dup(GT)₇=0.00000, dup(GT)₈=0.00000
Allele Frequency Aggregator	European	Sub	8117	(TG)₉T=0.9685	del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.0000, delGT=0.0000, dupGT=0.0261, dupGTGT=0.0000, dup(GT)₃=0.0000, dup(GT)₄=0.0000, dup(GT)₅=0.0054, dup(GT)₆=0.0000, dup(GT)₇=0.0000, dup(GT)₈=0.0000
Allele Frequency Aggregator	African	Sub	1090	(TG)₉T=1.0000	del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.0000, delGT=0.0000, dupGT=0.0000, dupGTGT=0.0000, dup(GT)₃=0.0000, dup(GT)₄=0.0000, dup(GT)₅=0.0000, dup(GT)₆=0.0000, dup(GT)₇=0.0000, dup(GT)₈=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	544	(TG)₉T=1.000	del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.000, dupGTGT=0.000, dup(GT)₃=0.000, dup(GT)₄=0.000, dup(GT)₅=0.000, dup(GT)₆=0.000, dup(GT)₇=0.000, dup(GT)₈=0.000
Allele Frequency Aggregator	Other	Sub	350	(TG)₉T=1.000	del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.000, dupGTGT=0.000, dup(GT)₃=0.000, dup(GT)₄=0.000, dup(GT)₅=0.000, dup(GT)₆=0.000, dup(GT)₇=0.000, dup(GT)₈=0.000
Allele Frequency Aggregator	Latin American 1	Sub	118	(TG)₉T=1.000	del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.000, dupGTGT=0.000, dup(GT)₃=0.000, dup(GT)₄=0.000, dup(GT)₅=0.000, dup(GT)₆=0.000, dup(GT)₇=0.000, dup(GT)₈=0.000
Allele Frequency Aggregator	Asian	Sub	80	(TG)₉T=1.00	del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00, dup(GT)₄=0.00, dup(GT)₅=0.00, dup(GT)₆=0.00, dup(GT)₇=0.00, dup(GT)₈=0.00
Allele Frequency Aggregator	South Asian	Sub	76	(TG)₉T=1.00	del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00, dup(GT)₄=0.00, dup(GT)₅=0.00, dup(GT)₆=0.00, dup(GT)₇=0.00, dup(GT)₈=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 1	NC_000001.11:g.235570864GT[5]
GRCh38.p14 chr 1	NC_000001.11:g.235570864GT[6]
GRCh38.p14 chr 1	NC_000001.11:g.235570864GT[7]
GRCh38.p14 chr 1	NC_000001.11:g.235570864GT[8]
GRCh38.p14 chr 1	NC_000001.11:g.235570864GT[10]
GRCh38.p14 chr 1	NC_000001.11:g.235570864GT[11]
GRCh38.p14 chr 1	NC_000001.11:g.235570864GT[12]
GRCh38.p14 chr 1	NC_000001.11:g.235570864GT[13]
GRCh38.p14 chr 1	NC_000001.11:g.235570864GT[14]
GRCh38.p14 chr 1	NC_000001.11:g.235570864GT[15]
GRCh38.p14 chr 1	NC_000001.11:g.235570864GT[16]
GRCh38.p14 chr 1	NC_000001.11:g.235570864GT[17]
GRCh37.p13 chr 1	NC_000001.10:g.235734164GT[5]
GRCh37.p13 chr 1	NC_000001.10:g.235734164GT[6]
GRCh37.p13 chr 1	NC_000001.10:g.235734164GT[7]
GRCh37.p13 chr 1	NC_000001.10:g.235734164GT[8]
GRCh37.p13 chr 1	NC_000001.10:g.235734164GT[10]
GRCh37.p13 chr 1	NC_000001.10:g.235734164GT[11]
GRCh37.p13 chr 1	NC_000001.10:g.235734164GT[12]
GRCh37.p13 chr 1	NC_000001.10:g.235734164GT[13]
GRCh37.p13 chr 1	NC_000001.10:g.235734164GT[14]
GRCh37.p13 chr 1	NC_000001.10:g.235734164GT[15]
GRCh37.p13 chr 1	NC_000001.10:g.235734164GT[16]
GRCh37.p13 chr 1	NC_000001.10:g.235734164GT[17]

Gene: GNG4, G protein subunit gamma 4 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GNG4 transcript variant 2	NM_001098721.2:c.99+12860… NM_001098721.2:c.99+12860CA[5]	N/A	Intron Variant
GNG4 transcript variant 1	NM_001098722.2:c.99+12860… NM_001098722.2:c.99+12860CA[5]	N/A	Intron Variant
GNG4 transcript variant 3	NM_004485.4:c.99+12860CA[… NM_004485.4:c.99+12860CA[5]	N/A	Intron Variant
GNG4 transcript variant X2	XM_006711761.3:c.99+12860… XM_006711761.3:c.99+12860CA[5]	N/A	Intron Variant
GNG4 transcript variant X3	XM_011544167.2:c.99+12860… XM_011544167.2:c.99+12860CA[5]	N/A	Intron Variant
GNG4 transcript variant X1	XM_047418084.1:c.99+12860… XM_047418084.1:c.99+12860CA[5]	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	(TG)₉T=	del(GT)₄	del(GT)₃	delGTGT	delGT	dupGT	dupGTGT	dup(GT)₃	dup(GT)₄	dup(GT)₅	dup(GT)₆	dup(GT)₇	dup(GT)₈
GRCh38.p14 chr 1	NC_000001.11:g.235570863_235570881=	NC_000001.11:g.235570864GT[5]	NC_000001.11:g.235570864GT[6]	NC_000001.11:g.235570864GT[7]	NC_000001.11:g.235570864GT[8]	NC_000001.11:g.235570864GT[10]	NC_000001.11:g.235570864GT[11]	NC_000001.11:g.235570864GT[12]	NC_000001.11:g.235570864GT[13]	NC_000001.11:g.235570864GT[14]	NC_000001.11:g.235570864GT[15]	NC_000001.11:g.235570864GT[16]	NC_000001.11:g.235570864GT[17]
GRCh37.p13 chr 1	NC_000001.10:g.235734163_235734181=	NC_000001.10:g.235734164GT[5]	NC_000001.10:g.235734164GT[6]	NC_000001.10:g.235734164GT[7]	NC_000001.10:g.235734164GT[8]	NC_000001.10:g.235734164GT[10]	NC_000001.10:g.235734164GT[11]	NC_000001.10:g.235734164GT[12]	NC_000001.10:g.235734164GT[13]	NC_000001.10:g.235734164GT[14]	NC_000001.10:g.235734164GT[15]	NC_000001.10:g.235734164GT[16]	NC_000001.10:g.235734164GT[17]
GNG4 transcript variant 2	NM_001098721.1:c.99+12877=	NM_001098721.1:c.99+12860CA[5]	NM_001098721.1:c.99+12860CA[6]	NM_001098721.1:c.99+12860CA[7]	NM_001098721.1:c.99+12860CA[8]	NM_001098721.1:c.99+12860CA[10]	NM_001098721.1:c.99+12860CA[11]	NM_001098721.1:c.99+12860CA[12]	NM_001098721.1:c.99+12860CA[13]	NM_001098721.1:c.99+12860CA[14]	NM_001098721.1:c.99+12860CA[15]	NM_001098721.1:c.99+12860CA[16]	NM_001098721.1:c.99+12860CA[17]
GNG4 transcript variant 2	NM_001098721.2:c.99+12877=	NM_001098721.2:c.99+12860CA[5]	NM_001098721.2:c.99+12860CA[6]	NM_001098721.2:c.99+12860CA[7]	NM_001098721.2:c.99+12860CA[8]	NM_001098721.2:c.99+12860CA[10]	NM_001098721.2:c.99+12860CA[11]	NM_001098721.2:c.99+12860CA[12]	NM_001098721.2:c.99+12860CA[13]	NM_001098721.2:c.99+12860CA[14]	NM_001098721.2:c.99+12860CA[15]	NM_001098721.2:c.99+12860CA[16]	NM_001098721.2:c.99+12860CA[17]
GNG4 transcript variant 1	NM_001098722.1:c.99+12877=	NM_001098722.1:c.99+12860CA[5]	NM_001098722.1:c.99+12860CA[6]	NM_001098722.1:c.99+12860CA[7]	NM_001098722.1:c.99+12860CA[8]	NM_001098722.1:c.99+12860CA[10]	NM_001098722.1:c.99+12860CA[11]	NM_001098722.1:c.99+12860CA[12]	NM_001098722.1:c.99+12860CA[13]	NM_001098722.1:c.99+12860CA[14]	NM_001098722.1:c.99+12860CA[15]	NM_001098722.1:c.99+12860CA[16]	NM_001098722.1:c.99+12860CA[17]
GNG4 transcript variant 1	NM_001098722.2:c.99+12877=	NM_001098722.2:c.99+12860CA[5]	NM_001098722.2:c.99+12860CA[6]	NM_001098722.2:c.99+12860CA[7]	NM_001098722.2:c.99+12860CA[8]	NM_001098722.2:c.99+12860CA[10]	NM_001098722.2:c.99+12860CA[11]	NM_001098722.2:c.99+12860CA[12]	NM_001098722.2:c.99+12860CA[13]	NM_001098722.2:c.99+12860CA[14]	NM_001098722.2:c.99+12860CA[15]	NM_001098722.2:c.99+12860CA[16]	NM_001098722.2:c.99+12860CA[17]
GNG4 transcript variant 3	NM_004485.3:c.99+12877=	NM_004485.3:c.99+12860CA[5]	NM_004485.3:c.99+12860CA[6]	NM_004485.3:c.99+12860CA[7]	NM_004485.3:c.99+12860CA[8]	NM_004485.3:c.99+12860CA[10]	NM_004485.3:c.99+12860CA[11]	NM_004485.3:c.99+12860CA[12]	NM_004485.3:c.99+12860CA[13]	NM_004485.3:c.99+12860CA[14]	NM_004485.3:c.99+12860CA[15]	NM_004485.3:c.99+12860CA[16]	NM_004485.3:c.99+12860CA[17]
GNG4 transcript variant 3	NM_004485.4:c.99+12877=	NM_004485.4:c.99+12860CA[5]	NM_004485.4:c.99+12860CA[6]	NM_004485.4:c.99+12860CA[7]	NM_004485.4:c.99+12860CA[8]	NM_004485.4:c.99+12860CA[10]	NM_004485.4:c.99+12860CA[11]	NM_004485.4:c.99+12860CA[12]	NM_004485.4:c.99+12860CA[13]	NM_004485.4:c.99+12860CA[14]	NM_004485.4:c.99+12860CA[15]	NM_004485.4:c.99+12860CA[16]	NM_004485.4:c.99+12860CA[17]
GNG4 transcript variant X2	XM_006711761.3:c.99+12877=	XM_006711761.3:c.99+12860CA[5]	XM_006711761.3:c.99+12860CA[6]	XM_006711761.3:c.99+12860CA[7]	XM_006711761.3:c.99+12860CA[8]	XM_006711761.3:c.99+12860CA[10]	XM_006711761.3:c.99+12860CA[11]	XM_006711761.3:c.99+12860CA[12]	XM_006711761.3:c.99+12860CA[13]	XM_006711761.3:c.99+12860CA[14]	XM_006711761.3:c.99+12860CA[15]	XM_006711761.3:c.99+12860CA[16]	XM_006711761.3:c.99+12860CA[17]
GNG4 transcript variant X3	XM_011544167.2:c.99+12877=	XM_011544167.2:c.99+12860CA[5]	XM_011544167.2:c.99+12860CA[6]	XM_011544167.2:c.99+12860CA[7]	XM_011544167.2:c.99+12860CA[8]	XM_011544167.2:c.99+12860CA[10]	XM_011544167.2:c.99+12860CA[11]	XM_011544167.2:c.99+12860CA[12]	XM_011544167.2:c.99+12860CA[13]	XM_011544167.2:c.99+12860CA[14]	XM_011544167.2:c.99+12860CA[15]	XM_011544167.2:c.99+12860CA[16]	XM_011544167.2:c.99+12860CA[17]
GNG4 transcript variant X1	XM_047418084.1:c.99+12877=	XM_047418084.1:c.99+12860CA[5]	XM_047418084.1:c.99+12860CA[6]	XM_047418084.1:c.99+12860CA[7]	XM_047418084.1:c.99+12860CA[8]	XM_047418084.1:c.99+12860CA[10]	XM_047418084.1:c.99+12860CA[11]	XM_047418084.1:c.99+12860CA[12]	XM_047418084.1:c.99+12860CA[13]	XM_047418084.1:c.99+12860CA[14]	XM_047418084.1:c.99+12860CA[15]	XM_047418084.1:c.99+12860CA[16]	XM_047418084.1:c.99+12860CA[17]

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#.

27 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss2988668135	Nov 08, 2017 (151)
2	SWEGEN	ss2988668136	Nov 08, 2017 (151)
3	GNOMAD	ss4013554600	Apr 25, 2021 (155)
4	GNOMAD	ss4013554601	Apr 25, 2021 (155)
5	GNOMAD	ss4013554602	Apr 25, 2021 (155)
6	GNOMAD	ss4013554603	Apr 25, 2021 (155)
7	GNOMAD	ss4013554604	Apr 25, 2021 (155)
8	GNOMAD	ss4013554605	Apr 25, 2021 (155)
9	GNOMAD	ss4013554606	Apr 25, 2021 (155)
10	GNOMAD	ss4013554607	Apr 25, 2021 (155)
11	GNOMAD	ss4013554609	Apr 25, 2021 (155)
12	GNOMAD	ss4013554610	Apr 25, 2021 (155)
13	GNOMAD	ss4013554611	Apr 25, 2021 (155)
14	TOMMO_GENOMICS	ss5149034352	Apr 25, 2021 (155)
15	TOMMO_GENOMICS	ss5149034354	Apr 25, 2021 (155)
16	TOMMO_GENOMICS	ss5149034356	Apr 25, 2021 (155)
17	1000G_HIGH_COVERAGE	ss5246255452	Oct 12, 2022 (156)
18	1000G_HIGH_COVERAGE	ss5246255453	Oct 12, 2022 (156)
19	HUGCELL_USP	ss5446645867	Oct 12, 2022 (156)
20	HUGCELL_USP	ss5446645869	Oct 12, 2022 (156)
21	HUGCELL_USP	ss5446645871	Oct 12, 2022 (156)
22	HUGCELL_USP	ss5446645872	Oct 12, 2022 (156)
23	TOMMO_GENOMICS	ss5676970393	Oct 12, 2022 (156)
24	TOMMO_GENOMICS	ss5676970395	Oct 12, 2022 (156)
25	TOMMO_GENOMICS	ss5676970396	Oct 12, 2022 (156)
26	EVA	ss5833448838	Oct 12, 2022 (156)
27	EVA	ss5833448839	Oct 12, 2022 (156)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43352915 (NC_000001.11:235570862::TG 6584/130284) Row 43352916 (NC_000001.11:235570862::TGTG 347/130314) Row 43352917 (NC_000001.11:235570862::TGTGTG 4332/130280)...	-	Apr 25, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43352915 (NC_000001.11:235570862::TG 6584/130284) Row 43352916 (NC_000001.11:235570862::TGTG 347/130314) Row 43352917 (NC_000001.11:235570862::TGTGTG 4332/130280)...	-	Apr 25, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43352915 (NC_000001.11:235570862::TG 6584/130284) Row 43352916 (NC_000001.11:235570862::TGTG 347/130314) Row 43352917 (NC_000001.11:235570862::TGTGTG 4332/130280)...	-	Apr 25, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43352915 (NC_000001.11:235570862::TG 6584/130284) Row 43352916 (NC_000001.11:235570862::TGTG 347/130314) Row 43352917 (NC_000001.11:235570862::TGTGTG 4332/130280)...	-	Apr 25, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43352915 (NC_000001.11:235570862::TG 6584/130284) Row 43352916 (NC_000001.11:235570862::TGTG 347/130314) Row 43352917 (NC_000001.11:235570862::TGTGTG 4332/130280)...	-	Apr 25, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43352915 (NC_000001.11:235570862::TG 6584/130284) Row 43352916 (NC_000001.11:235570862::TGTG 347/130314) Row 43352917 (NC_000001.11:235570862::TGTGTG 4332/130280)...	-	Apr 25, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43352915 (NC_000001.11:235570862::TG 6584/130284) Row 43352916 (NC_000001.11:235570862::TGTG 347/130314) Row 43352917 (NC_000001.11:235570862::TGTGTG 4332/130280)...	-	Apr 25, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43352915 (NC_000001.11:235570862::TG 6584/130284) Row 43352916 (NC_000001.11:235570862::TGTG 347/130314) Row 43352917 (NC_000001.11:235570862::TGTGTG 4332/130280)...	-	Apr 25, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43352915 (NC_000001.11:235570862::TG 6584/130284) Row 43352916 (NC_000001.11:235570862::TGTG 347/130314) Row 43352917 (NC_000001.11:235570862::TGTGTG 4332/130280)...	-	Apr 25, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43352915 (NC_000001.11:235570862::TG 6584/130284) Row 43352916 (NC_000001.11:235570862::TGTG 347/130314) Row 43352917 (NC_000001.11:235570862::TGTGTG 4332/130280)...	-	Apr 25, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43352915 (NC_000001.11:235570862::TG 6584/130284) Row 43352916 (NC_000001.11:235570862::TGTG 347/130314) Row 43352917 (NC_000001.11:235570862::TGTGTG 4332/130280)...	-	Apr 25, 2021 (155)
39	8.3KJPN Submission ignored due to conflicting rows: Row 7003659 (NC_000001.10:235734162::TG 871/16760) Row 7003661 (NC_000001.10:235734162::TGTGTG 268/16760) Row 7003663 (NC_000001.10:235734162:TGTGTG: 121/16760)	-	Apr 25, 2021 (155)
40	8.3KJPN Submission ignored due to conflicting rows: Row 7003659 (NC_000001.10:235734162::TG 871/16760) Row 7003661 (NC_000001.10:235734162::TGTGTG 268/16760) Row 7003663 (NC_000001.10:235734162:TGTGTG: 121/16760)	-	Apr 25, 2021 (155)
41	8.3KJPN Submission ignored due to conflicting rows: Row 7003659 (NC_000001.10:235734162::TG 871/16760) Row 7003661 (NC_000001.10:235734162::TGTGTG 268/16760) Row 7003663 (NC_000001.10:235734162:TGTGTG: 121/16760)	-	Apr 25, 2021 (155)
42	14KJPN Submission ignored due to conflicting rows: Row 10807497 (NC_000001.11:235570862::TGTGTG 455/28254) Row 10807499 (NC_000001.11:235570862:TGTGTG: 176/28254) Row 10807500 (NC_000001.11:235570862::TG 1429/28254)	-	Oct 12, 2022 (156)
43	14KJPN Submission ignored due to conflicting rows: Row 10807497 (NC_000001.11:235570862::TGTGTG 455/28254) Row 10807499 (NC_000001.11:235570862:TGTGTG: 176/28254) Row 10807500 (NC_000001.11:235570862::TG 1429/28254)	-	Oct 12, 2022 (156)
44	14KJPN Submission ignored due to conflicting rows: Row 10807497 (NC_000001.11:235570862::TGTGTG 455/28254) Row 10807499 (NC_000001.11:235570862:TGTGTG: 176/28254) Row 10807500 (NC_000001.11:235570862::TG 1429/28254)	-	Oct 12, 2022 (156)
45	ALFA	NC_000001.11 - 235570863	Apr 25, 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)
rs148980631	Oct 19, 2011 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4013554611	NC_000001.11:235570862:TGTGTGTG:	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT	(self)
6709295643	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT	(self)
ss5149034356	NC_000001.10:235734162:TGTGTG:	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT	(self)
ss5676970395	NC_000001.11:235570862:TGTGTG:	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT
6709295643	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT	(self)
ss4013554610	NC_000001.11:235570862:TGTG:	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT	(self)
6709295643	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT	(self)
ss4013554609	NC_000001.11:235570862:TG:	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT	(self)
6709295643	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT	(self)
ss2988668136, ss5149034352	NC_000001.10:235734162::TG	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
ss4013554600, ss5246255452, ss5446645872, ss5676970396	NC_000001.11:235570862::TG	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
6709295643	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
ss4013554601	NC_000001.11:235570862::TGTG	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT	(self)
6709295643	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT	(self)
ss5149034354	NC_000001.10:235734162::TGTGTG	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4013554602, ss5446645871, ss5676970393	NC_000001.11:235570862::TGTGTG	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
6709295643	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss5833448838	NC_000001.10:235734162::TGTGTGTG	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
ss4013554603, ss5446645867	NC_000001.11:235570862::TGTGTGTG	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
6709295643	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss2988668135, ss5833448839	NC_000001.10:235734162::TGTGTGTGTG	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4013554604, ss5246255453, ss5446645869	NC_000001.11:235570862::TGTGTGTGTG	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
6709295643	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4013554605	NC_000001.11:235570862::TGTGTGTGTG… NC_000001.11:235570862::TGTGTGTGTGTG	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
6709295643	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4013554606	NC_000001.11:235570862::TGTGTGTGTG… NC_000001.11:235570862::TGTGTGTGTGTGTG	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
6709295643	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4013554607	NC_000001.11:235570862::TGTGTGTGTG… NC_000001.11:235570862::TGTGTGTGTGTGTGTG	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
6709295643	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000001.11:235570862:TGTGTGTGTGT… NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(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 rs1553365373

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

rs1553365373