Name: rs555503834
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.

rs555503834

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:75212088-75212110 (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(TG)₆ / del(TG)₅ / del(TG)₄ / d…
del(TG)₆ / del(TG)₅ / del(TG)₄ / del(TG)₃ / delTGTG / delTG / dupTG / dupTGTG / dup(TG)₃
Variation Type: Indel Insertion and Deletion
Frequency: delTG=0.04377 (733/16748, 8.3KJPN)
del(TG)₆=0.00000 (0/13232, ALFA)
del(TG)₅=0.00000 (0/13232, ALFA) (+ 8 more)
del(TG)₄=0.00000 (0/13232, ALFA)
del(TG)₃=0.00000 (0/13232, ALFA)
delTGTG=0.00000 (0/13232, ALFA)
delTG=0.00000 (0/13232, ALFA)
dupTG=0.00000 (0/13232, ALFA)
dupTGTG=0.00000 (0/13232, ALFA)
dup(TG)₃=0.00000 (0/13232, ALFA)
delTG=0.0289 (53/1832, Korea1K)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NUP85 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

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

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	13232	GTGTGTGTGTGTGTGTGTGTGTG=1.00000	GTGTGTGTGTG=0.00000, GTGTGTGTGTGTG=0.00000, GTGTGTGTGTGTGTG=0.00000, GTGTGTGTGTGTGTGTG=0.00000, GTGTGTGTGTGTGTGTGTG=0.00000, GTGTGTGTGTGTGTGTGTGTG=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000	1.0	N/A
European	Sub	9664	GTGTGTGTGTGTGTGTGTGTGTG=1.0000	GTGTGTGTGTG=0.0000, GTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000	1.0	N/A
African	Sub	2254	GTGTGTGTGTGTGTGTGTGTGTG=1.0000	GTGTGTGTGTG=0.0000, GTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000	1.0	N/A
African Others	Sub	86	GTGTGTGTGTGTGTGTGTGTGTG=1.00	GTGTGTGTGTG=0.00, GTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00	1.0	N/A
African American	Sub	2168	GTGTGTGTGTGTGTGTGTGTGTG=1.0000	GTGTGTGTGTG=0.0000, GTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000	1.0	N/A
Asian	Sub	100	GTGTGTGTGTGTGTGTGTGTGTG=1.00	GTGTGTGTGTG=0.00, GTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00	1.0	N/A
East Asian	Sub	76	GTGTGTGTGTGTGTGTGTGTGTG=1.00	GTGTGTGTGTG=0.00, GTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00	1.0	N/A
Other Asian	Sub	24	GTGTGTGTGTGTGTGTGTGTGTG=1.00	GTGTGTGTGTG=0.00, GTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00	1.0	N/A
Latin American 1	Sub	124	GTGTGTGTGTGTGTGTGTGTGTG=1.000	GTGTGTGTGTG=0.000, GTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000	1.0	N/A
Latin American 2	Sub	554	GTGTGTGTGTGTGTGTGTGTGTG=1.000	GTGTGTGTGTG=0.000, GTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000	1.0	N/A
South Asian	Sub	90	GTGTGTGTGTGTGTGTGTGTGTG=1.00	GTGTGTGTGTG=0.00, GTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00	1.0	N/A
Other	Sub	446	GTGTGTGTGTGTGTGTGTGTGTG=1.000	GTGTGTGTGTG=0.000, GTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000	1.0	N/A

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
8.3KJPN	JAPANESE	Study-wide	16748	(GT)₁₁G=0.95623	delTG=0.04377
Allele Frequency Aggregator	Total	Global	13232	(GT)₁₁G=1.00000	del(TG)₆=0.00000, del(TG)₅=0.00000, del(TG)₄=0.00000, del(TG)₃=0.00000, delTGTG=0.00000, delTG=0.00000, dupTG=0.00000, dupTGTG=0.00000, dup(TG)₃=0.00000
Allele Frequency Aggregator	European	Sub	9664	(GT)₁₁G=1.0000	del(TG)₆=0.0000, del(TG)₅=0.0000, del(TG)₄=0.0000, del(TG)₃=0.0000, delTGTG=0.0000, delTG=0.0000, dupTG=0.0000, dupTGTG=0.0000, dup(TG)₃=0.0000
Allele Frequency Aggregator	African	Sub	2254	(GT)₁₁G=1.0000	del(TG)₆=0.0000, del(TG)₅=0.0000, del(TG)₄=0.0000, del(TG)₃=0.0000, delTGTG=0.0000, delTG=0.0000, dupTG=0.0000, dupTGTG=0.0000, dup(TG)₃=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	554	(GT)₁₁G=1.000	del(TG)₆=0.000, del(TG)₅=0.000, del(TG)₄=0.000, del(TG)₃=0.000, delTGTG=0.000, delTG=0.000, dupTG=0.000, dupTGTG=0.000, dup(TG)₃=0.000
Allele Frequency Aggregator	Other	Sub	446	(GT)₁₁G=1.000	del(TG)₆=0.000, del(TG)₅=0.000, del(TG)₄=0.000, del(TG)₃=0.000, delTGTG=0.000, delTG=0.000, dupTG=0.000, dupTGTG=0.000, dup(TG)₃=0.000
Allele Frequency Aggregator	Latin American 1	Sub	124	(GT)₁₁G=1.000	del(TG)₆=0.000, del(TG)₅=0.000, del(TG)₄=0.000, del(TG)₃=0.000, delTGTG=0.000, delTG=0.000, dupTG=0.000, dupTGTG=0.000, dup(TG)₃=0.000
Allele Frequency Aggregator	Asian	Sub	100	(GT)₁₁G=1.00	del(TG)₆=0.00, del(TG)₅=0.00, del(TG)₄=0.00, del(TG)₃=0.00, delTGTG=0.00, delTG=0.00, dupTG=0.00, dupTGTG=0.00, dup(TG)₃=0.00
Allele Frequency Aggregator	South Asian	Sub	90	(GT)₁₁G=1.00	del(TG)₆=0.00, del(TG)₅=0.00, del(TG)₄=0.00, del(TG)₃=0.00, delTGTG=0.00, delTG=0.00, dupTG=0.00, dupTGTG=0.00, dup(TG)₃=0.00
Korean Genome Project	KOREAN	Study-wide	1832	(GT)₁₁G=0.9711	delTG=0.0289

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 17	NC_000017.11:g.75212089TG[5]
GRCh38.p14 chr 17	NC_000017.11:g.75212089TG[6]
GRCh38.p14 chr 17	NC_000017.11:g.75212089TG[7]
GRCh38.p14 chr 17	NC_000017.11:g.75212089TG[8]
GRCh38.p14 chr 17	NC_000017.11:g.75212089TG[9]
GRCh38.p14 chr 17	NC_000017.11:g.75212089TG[10]
GRCh38.p14 chr 17	NC_000017.11:g.75212089TG[12]
GRCh38.p14 chr 17	NC_000017.11:g.75212089TG[13]
GRCh38.p14 chr 17	NC_000017.11:g.75212089TG[14]
GRCh37.p13 chr 17	NC_000017.10:g.73208184TG[5]
GRCh37.p13 chr 17	NC_000017.10:g.73208184TG[6]
GRCh37.p13 chr 17	NC_000017.10:g.73208184TG[7]
GRCh37.p13 chr 17	NC_000017.10:g.73208184TG[8]
GRCh37.p13 chr 17	NC_000017.10:g.73208184TG[9]
GRCh37.p13 chr 17	NC_000017.10:g.73208184TG[10]
GRCh37.p13 chr 17	NC_000017.10:g.73208184TG[12]
GRCh37.p13 chr 17	NC_000017.10:g.73208184TG[13]
GRCh37.p13 chr 17	NC_000017.10:g.73208184TG[14]

Gene: NUP85, nucleoporin 85 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NUP85 transcript variant 2	NM_001303276.2:c.223+26GT… NM_001303276.2:c.223+26GT[5]	N/A	Intron Variant
NUP85 transcript variant 3	NM_001330472.2:c.361+26GT… NM_001330472.2:c.361+26GT[5]	N/A	Intron Variant
NUP85 transcript variant 1	NM_024844.5:c.361+26GT[5]	N/A	Intron Variant
NUP85 transcript variant X9	XM_024450951.2:c.361+26GT… XM_024450951.2:c.361+26GT[5]	N/A	Intron Variant
NUP85 transcript variant X1	XM_047436776.1:c.361+26GT… XM_047436776.1:c.361+26GT[5]	N/A	Intron Variant
NUP85 transcript variant X2	XM_047436777.1:c.-22+26GT… XM_047436777.1:c.-22+26GT[5]	N/A	Intron Variant
NUP85 transcript variant X7	XM_047436778.1:c.361+26GT… XM_047436778.1:c.361+26GT[5]	N/A	Intron Variant
NUP85 transcript variant X8	XM_047436779.1:c.	N/A	Genic Upstream Transcript Variant
NUP85 transcript variant X10	XM_047436780.1:c.	N/A	Genic Upstream Transcript Variant
NUP85 transcript variant X4	XR_002958072.2:n.	N/A	Intron Variant
NUP85 transcript variant X3	XR_007065461.1:n.	N/A	Intron Variant
NUP85 transcript variant X5	XR_007065462.1:n.	N/A	Intron Variant
NUP85 transcript variant X6	XR_007065463.1:n.	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	(GT)₁₁G=	del(TG)₆	del(TG)₅	del(TG)₄	del(TG)₃	delTGTG	delTG	dupTG	dupTGTG	dup(TG)₃
GRCh38.p14 chr 17	NC_000017.11:g.75212088_75212110=	NC_000017.11:g.75212089TG[5]	NC_000017.11:g.75212089TG[6]	NC_000017.11:g.75212089TG[7]	NC_000017.11:g.75212089TG[8]	NC_000017.11:g.75212089TG[9]	NC_000017.11:g.75212089TG[10]	NC_000017.11:g.75212089TG[12]	NC_000017.11:g.75212089TG[13]	NC_000017.11:g.75212089TG[14]
GRCh37.p13 chr 17	NC_000017.10:g.73208183_73208205=	NC_000017.10:g.73208184TG[5]	NC_000017.10:g.73208184TG[6]	NC_000017.10:g.73208184TG[7]	NC_000017.10:g.73208184TG[8]	NC_000017.10:g.73208184TG[9]	NC_000017.10:g.73208184TG[10]	NC_000017.10:g.73208184TG[12]	NC_000017.10:g.73208184TG[13]	NC_000017.10:g.73208184TG[14]
NUP85 transcript variant 2	NM_001303276.2:c.223+26=	NM_001303276.2:c.223+26GT[5]	NM_001303276.2:c.223+26GT[6]	NM_001303276.2:c.223+26GT[7]	NM_001303276.2:c.223+26GT[8]	NM_001303276.2:c.223+26GT[9]	NM_001303276.2:c.223+26GT[10]	NM_001303276.2:c.223+26GT[12]	NM_001303276.2:c.223+26GT[13]	NM_001303276.2:c.223+26GT[14]
NUP85 transcript variant 3	NM_001330472.2:c.361+26=	NM_001330472.2:c.361+26GT[5]	NM_001330472.2:c.361+26GT[6]	NM_001330472.2:c.361+26GT[7]	NM_001330472.2:c.361+26GT[8]	NM_001330472.2:c.361+26GT[9]	NM_001330472.2:c.361+26GT[10]	NM_001330472.2:c.361+26GT[12]	NM_001330472.2:c.361+26GT[13]	NM_001330472.2:c.361+26GT[14]
NUP85 transcript	NM_024844.3:c.361+26=	NM_024844.3:c.361+26GT[5]	NM_024844.3:c.361+26GT[6]	NM_024844.3:c.361+26GT[7]	NM_024844.3:c.361+26GT[8]	NM_024844.3:c.361+26GT[9]	NM_024844.3:c.361+26GT[10]	NM_024844.3:c.361+26GT[12]	NM_024844.3:c.361+26GT[13]	NM_024844.3:c.361+26GT[14]
NUP85 transcript variant 1	NM_024844.5:c.361+26=	NM_024844.5:c.361+26GT[5]	NM_024844.5:c.361+26GT[6]	NM_024844.5:c.361+26GT[7]	NM_024844.5:c.361+26GT[8]	NM_024844.5:c.361+26GT[9]	NM_024844.5:c.361+26GT[10]	NM_024844.5:c.361+26GT[12]	NM_024844.5:c.361+26GT[13]	NM_024844.5:c.361+26GT[14]
NUP85 transcript variant X5	XM_005257690.1:c.361+26=	XM_005257690.1:c.361+26GT[5]	XM_005257690.1:c.361+26GT[6]	XM_005257690.1:c.361+26GT[7]	XM_005257690.1:c.361+26GT[8]	XM_005257690.1:c.361+26GT[9]	XM_005257690.1:c.361+26GT[10]	XM_005257690.1:c.361+26GT[12]	XM_005257690.1:c.361+26GT[13]	XM_005257690.1:c.361+26GT[14]
NUP85 transcript variant X2	XM_005257691.1:c.361+26=	XM_005257691.1:c.361+26GT[5]	XM_005257691.1:c.361+26GT[6]	XM_005257691.1:c.361+26GT[7]	XM_005257691.1:c.361+26GT[8]	XM_005257691.1:c.361+26GT[9]	XM_005257691.1:c.361+26GT[10]	XM_005257691.1:c.361+26GT[12]	XM_005257691.1:c.361+26GT[13]	XM_005257691.1:c.361+26GT[14]
NUP85 transcript variant X4	XM_005257693.1:c.361+26=	XM_005257693.1:c.361+26GT[5]	XM_005257693.1:c.361+26GT[6]	XM_005257693.1:c.361+26GT[7]	XM_005257693.1:c.361+26GT[8]	XM_005257693.1:c.361+26GT[9]	XM_005257693.1:c.361+26GT[10]	XM_005257693.1:c.361+26GT[12]	XM_005257693.1:c.361+26GT[13]	XM_005257693.1:c.361+26GT[14]
NUP85 transcript variant X9	XM_024450951.2:c.361+26=	XM_024450951.2:c.361+26GT[5]	XM_024450951.2:c.361+26GT[6]	XM_024450951.2:c.361+26GT[7]	XM_024450951.2:c.361+26GT[8]	XM_024450951.2:c.361+26GT[9]	XM_024450951.2:c.361+26GT[10]	XM_024450951.2:c.361+26GT[12]	XM_024450951.2:c.361+26GT[13]	XM_024450951.2:c.361+26GT[14]
NUP85 transcript variant X1	XM_047436776.1:c.361+26=	XM_047436776.1:c.361+26GT[5]	XM_047436776.1:c.361+26GT[6]	XM_047436776.1:c.361+26GT[7]	XM_047436776.1:c.361+26GT[8]	XM_047436776.1:c.361+26GT[9]	XM_047436776.1:c.361+26GT[10]	XM_047436776.1:c.361+26GT[12]	XM_047436776.1:c.361+26GT[13]	XM_047436776.1:c.361+26GT[14]
NUP85 transcript variant X2	XM_047436777.1:c.-22+26=	XM_047436777.1:c.-22+26GT[5]	XM_047436777.1:c.-22+26GT[6]	XM_047436777.1:c.-22+26GT[7]	XM_047436777.1:c.-22+26GT[8]	XM_047436777.1:c.-22+26GT[9]	XM_047436777.1:c.-22+26GT[10]	XM_047436777.1:c.-22+26GT[12]	XM_047436777.1:c.-22+26GT[13]	XM_047436777.1:c.-22+26GT[14]
NUP85 transcript variant X7	XM_047436778.1:c.361+26=	XM_047436778.1:c.361+26GT[5]	XM_047436778.1:c.361+26GT[6]	XM_047436778.1:c.361+26GT[7]	XM_047436778.1:c.361+26GT[8]	XM_047436778.1:c.361+26GT[9]	XM_047436778.1:c.361+26GT[10]	XM_047436778.1:c.361+26GT[12]	XM_047436778.1:c.361+26GT[13]	XM_047436778.1:c.361+26GT[14]

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#.

28 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSIP	ss947374601	Jan 10, 2018 (151)
2	1000GENOMES	ss1376951535	Aug 21, 2014 (142)
3	EVA_EXAC	ss1712157126	Apr 01, 2015 (144)
4	EVA_EXAC	ss1712157127	Jan 10, 2018 (151)
5	EVA_EXAC	ss1712157128	Apr 01, 2015 (144)
6	EVA_EXAC	ss1712157129	Apr 01, 2015 (144)
7	EVA_EXAC	ss1712157130	Apr 01, 2015 (144)
8	EVA_DECODE	ss3700915418	Jul 13, 2019 (153)
9	KOGIC	ss3979291156	Apr 27, 2020 (154)
10	GNOMAD	ss4315670518	Apr 27, 2021 (155)
11	GNOMAD	ss4315670519	Apr 27, 2021 (155)
12	GNOMAD	ss4315670521	Apr 27, 2021 (155)
13	GNOMAD	ss4315670522	Apr 27, 2021 (155)
14	GNOMAD	ss4315670523	Apr 27, 2021 (155)
15	GNOMAD	ss4315670524	Apr 27, 2021 (155)
16	TOPMED	ss5043862040	Apr 27, 2021 (155)
17	TOPMED	ss5043862042	Apr 27, 2021 (155)
18	TOPMED	ss5043862043	Apr 27, 2021 (155)
19	TOPMED	ss5043862044	Apr 27, 2021 (155)
20	TOMMO_GENOMICS	ss5223480243	Apr 27, 2021 (155)
21	1000G_HIGH_COVERAGE	ss5303936339	Oct 16, 2022 (156)
22	HUGCELL_USP	ss5496901372	Oct 16, 2022 (156)
23	HUGCELL_USP	ss5496901374	Oct 16, 2022 (156)
24	HUGCELL_USP	ss5496901375	Oct 16, 2022 (156)
25	TOMMO_GENOMICS	ss5780024651	Oct 16, 2022 (156)
26	TOMMO_GENOMICS	ss5780024652	Oct 16, 2022 (156)
27	EVA	ss5834288480	Oct 16, 2022 (156)
28	EVA	ss5834288481	Oct 16, 2022 (156)
29	ExAC Submission ignored due to conflicting rows: Row 3416725 (NC_000017.10:73208182:GTGTGTGTGTGT: 13/66800) Row 3416726 (NC_000017.10:73208182:GTGTGTGTGT: 6/66800) Row 3416727 (NC_000017.10:73208182:GTGT: 41/66800) Row 3416728 (NC_000017.10:73208182:GT: 1926/66800) Row 3416729 (NC_000017.10:73208182::GT 109/66800)	-	Oct 12, 2018 (152)
30	ExAC Submission ignored due to conflicting rows: Row 3416725 (NC_000017.10:73208182:GTGTGTGTGTGT: 13/66800) Row 3416726 (NC_000017.10:73208182:GTGTGTGTGT: 6/66800) Row 3416727 (NC_000017.10:73208182:GTGT: 41/66800) Row 3416728 (NC_000017.10:73208182:GT: 1926/66800) Row 3416729 (NC_000017.10:73208182::GT 109/66800)	-	Oct 12, 2018 (152)
31	ExAC Submission ignored due to conflicting rows: Row 3416725 (NC_000017.10:73208182:GTGTGTGTGTGT: 13/66800) Row 3416726 (NC_000017.10:73208182:GTGTGTGTGT: 6/66800) Row 3416727 (NC_000017.10:73208182:GTGT: 41/66800) Row 3416728 (NC_000017.10:73208182:GT: 1926/66800) Row 3416729 (NC_000017.10:73208182::GT 109/66800)	-	Oct 12, 2018 (152)
32	ExAC Submission ignored due to conflicting rows: Row 3416725 (NC_000017.10:73208182:GTGTGTGTGTGT: 13/66800) Row 3416726 (NC_000017.10:73208182:GTGTGTGTGT: 6/66800) Row 3416727 (NC_000017.10:73208182:GTGT: 41/66800) Row 3416728 (NC_000017.10:73208182:GT: 1926/66800) Row 3416729 (NC_000017.10:73208182::GT 109/66800)	-	Oct 12, 2018 (152)
33	ExAC Submission ignored due to conflicting rows: Row 3416725 (NC_000017.10:73208182:GTGTGTGTGTGT: 13/66800) Row 3416726 (NC_000017.10:73208182:GTGTGTGTGT: 6/66800) Row 3416727 (NC_000017.10:73208182:GTGT: 41/66800) Row 3416728 (NC_000017.10:73208182:GT: 1926/66800) Row 3416729 (NC_000017.10:73208182::GT 109/66800)	-	Oct 12, 2018 (152)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513892357 (NC_000017.11:75212087::GT 957/131052) Row 513892358 (NC_000017.11:75212087::GTGT 2/131056) Row 513892360 (NC_000017.11:75212087:GT: 4339/131018)...	-	Apr 27, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513892357 (NC_000017.11:75212087::GT 957/131052) Row 513892358 (NC_000017.11:75212087::GTGT 2/131056) Row 513892360 (NC_000017.11:75212087:GT: 4339/131018)...	-	Apr 27, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513892357 (NC_000017.11:75212087::GT 957/131052) Row 513892358 (NC_000017.11:75212087::GTGT 2/131056) Row 513892360 (NC_000017.11:75212087:GT: 4339/131018)...	-	Apr 27, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513892357 (NC_000017.11:75212087::GT 957/131052) Row 513892358 (NC_000017.11:75212087::GTGT 2/131056) Row 513892360 (NC_000017.11:75212087:GT: 4339/131018)...	-	Apr 27, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513892357 (NC_000017.11:75212087::GT 957/131052) Row 513892358 (NC_000017.11:75212087::GTGT 2/131056) Row 513892360 (NC_000017.11:75212087:GT: 4339/131018)...	-	Apr 27, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513892357 (NC_000017.11:75212087::GT 957/131052) Row 513892358 (NC_000017.11:75212087::GTGT 2/131056) Row 513892360 (NC_000017.11:75212087:GT: 4339/131018)...	-	Apr 27, 2021 (155)
40	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12305842 (NC_000017.10:73208182::GT 229/177640) Row 12305844 (NC_000017.10:73208182:GT: 4737/177640) Row 12305845 (NC_000017.10:73208182:GTGTGTGTGTGT: 31/177640)	-	Jul 13, 2019 (153)
41	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12305842 (NC_000017.10:73208182::GT 229/177640) Row 12305844 (NC_000017.10:73208182:GT: 4737/177640) Row 12305845 (NC_000017.10:73208182:GTGTGTGTGTGT: 31/177640)	-	Jul 13, 2019 (153)
42	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12305842 (NC_000017.10:73208182::GT 229/177640) Row 12305844 (NC_000017.10:73208182:GT: 4737/177640) Row 12305845 (NC_000017.10:73208182:GTGTGTGTGTGT: 31/177640)	-	Jul 13, 2019 (153)
43	Korean Genome Project	NC_000017.11 - 75212088	Apr 27, 2020 (154)
44	8.3KJPN	NC_000017.10 - 73208183	Apr 27, 2021 (155)
45	14KJPN Submission ignored due to conflicting rows: Row 113861755 (NC_000017.11:75212087:GTGT: 11/27974) Row 113861756 (NC_000017.11:75212087:GT: 1176/27974)	-	Oct 16, 2022 (156)
46	14KJPN Submission ignored due to conflicting rows: Row 113861755 (NC_000017.11:75212087:GTGT: 11/27974) Row 113861756 (NC_000017.11:75212087:GT: 1176/27974)	-	Oct 16, 2022 (156)
47	TopMed Submission ignored due to conflicting rows: Row 259407702 (NC_000017.11:75212087::GTGT 5/264690) Row 259407704 (NC_000017.11:75212087:GT: 11619/264690) Row 259407705 (NC_000017.11:75212087:GTGTGTGT: 6/264690)...	-	Apr 27, 2021 (155)
48	TopMed Submission ignored due to conflicting rows: Row 259407702 (NC_000017.11:75212087::GTGT 5/264690) Row 259407704 (NC_000017.11:75212087:GT: 11619/264690) Row 259407705 (NC_000017.11:75212087:GTGTGTGT: 6/264690)...	-	Apr 27, 2021 (155)
49	TopMed Submission ignored due to conflicting rows: Row 259407702 (NC_000017.11:75212087::GTGT 5/264690) Row 259407704 (NC_000017.11:75212087:GT: 11619/264690) Row 259407705 (NC_000017.11:75212087:GTGTGTGT: 6/264690)...	-	Apr 27, 2021 (155)
50	TopMed Submission ignored due to conflicting rows: Row 259407702 (NC_000017.11:75212087::GTGT 5/264690) Row 259407704 (NC_000017.11:75212087:GT: 11619/264690) Row 259407705 (NC_000017.11:75212087:GTGTGTGT: 6/264690)...	-	Apr 27, 2021 (155)
51	ALFA	NC_000017.11 - 75212088	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
ss1712157128	NC_000017.10:73208182:GTGTGTGTGTGT:	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG	(self)
ss4315670524, ss5496901375	NC_000017.11:75212087:GTGTGTGTGTGT:	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG	(self)
2960500338	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG	(self)
ss1712157129	NC_000017.10:73208182:GTGTGTGTGT:	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG	(self)
ss4315670523, ss5043862044	NC_000017.11:75212087:GTGTGTGTGT:	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG	(self)
2960500338	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG	(self)
ss5043862043	NC_000017.11:75212087:GTGTGTGT:	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG	(self)
2960500338	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG	(self)
2960500338	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG	(self)
ss1712157126	NC_000017.10:73208182:GTGT:	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG	(self)
ss4315670522, ss5303936339, ss5780024651	NC_000017.11:75212087:GTGT:	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG	(self)
2960500338	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG	(self)
81449550, ss947374601, ss1712157127, ss5223480243, ss5834288481	NC_000017.10:73208182:GT:	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG	(self)
35669157, ss3700915418, ss3979291156, ss4315670521, ss5043862042, ss5496901372, ss5780024652	NC_000017.11:75212087:GT:	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG	(self)
2960500338	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG	(self)
ss1376951535, ss1712157130	NC_000017.10:73208182::GT	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss4315670518, ss5496901374	NC_000017.11:75212087::GT	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG	(self)
2960500338	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss5834288480	NC_000017.10:73208182::GTGT	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG
ss4315670519, ss5043862040	NC_000017.11:75212087::GTGT	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
2960500338	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
2960500338	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3268819148	NC_000017.11:75212087::GTGTGT	NC_000017.11:75212087:GTGTGTGTGTGT… NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs555503834

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

rs555503834