Name: rs1228305437
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.

rs1228305437

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:93393088-93393105 (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: delTT / delT / dupT / dupTT / dupT…
delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅
Variation Type: Indel Insertion and Deletion
Frequency: dupTT=0.2268 (1091/4810, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DEUP1 : 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	4810	TTTTTTTTTTTTTTTTTT=0.5672	TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.1917, TTTTTTTTTTTTTTTTTTTT=0.2268, TTTTTTTTTTTTTTTTTTTTT=0.0143, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.736872	0.209463	0.053664	32
European	Sub	4482	TTTTTTTTTTTTTTTTTT=0.5368	TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.2053, TTTTTTTTTTTTTTTTTTTT=0.2425, TTTTTTTTTTTTTTTTTTTTT=0.0154, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.710828	0.229936	0.059236	32
African	Sub	284	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	12	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	272	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	2	TTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	4	TTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	4	TTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	34	TTTTTTTTTTTTTTTTTT=0.82	TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.06, TTTTTTTTTTTTTTTTTTTT=0.12, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	0.875	0.125	0.0	9

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	4810	(T)₁₈=0.5672	delTT=0.0000, delT=0.0000, dupT=0.1917, dupTT=0.2268, dupTTT=0.0143, dup(T)₄=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	European	Sub	4482	(T)₁₈=0.5368	delTT=0.0000, delT=0.0000, dupT=0.2053, dupTT=0.2425, dupTTT=0.0154, dup(T)₄=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	284	(T)₁₈=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Other	Sub	34	(T)₁₈=0.82	delTT=0.00, delT=0.00, dupT=0.06, dupTT=0.12, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Latin American 2	Sub	4	(T)₁₈=1.0	delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0
Allele Frequency Aggregator	South Asian	Sub	4	(T)₁₈=1.0	delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(T)₁₈=1.0	delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0
Allele Frequency Aggregator	Asian	Sub	0	(T)₁₈=0	delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₄=0, dup(T)₅=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.93393104_93393105del
GRCh38.p14 chr 11	NC_000011.10:g.93393105del
GRCh38.p14 chr 11	NC_000011.10:g.93393105dup
GRCh38.p14 chr 11	NC_000011.10:g.93393104_93393105dup
GRCh38.p14 chr 11	NC_000011.10:g.93393103_93393105dup
GRCh38.p14 chr 11	NC_000011.10:g.93393102_93393105dup
GRCh38.p14 chr 11	NC_000011.10:g.93393101_93393105dup
GRCh37.p13 chr 11	NC_000011.9:g.93126270_93126271del
GRCh37.p13 chr 11	NC_000011.9:g.93126271del
GRCh37.p13 chr 11	NC_000011.9:g.93126271dup
GRCh37.p13 chr 11	NC_000011.9:g.93126270_93126271dup
GRCh37.p13 chr 11	NC_000011.9:g.93126269_93126271dup
GRCh37.p13 chr 11	NC_000011.9:g.93126268_93126271dup
GRCh37.p13 chr 11	NC_000011.9:g.93126267_93126271dup

Gene: DEUP1, deuterosome assembly protein 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DEUP1 transcript	NM_181645.4:c.1042-1355_1… NM_181645.4:c.1042-1355_1042-1354del	N/A	Intron Variant
DEUP1 transcript variant X6	XM_005273802.2:c.1042-135… XM_005273802.2:c.1042-1355_1042-1354del	N/A	Intron Variant
DEUP1 transcript variant X1	XM_011542629.3:c.1042-135… XM_011542629.3:c.1042-1355_1042-1354del	N/A	Intron Variant
DEUP1 transcript variant X2	XM_011542630.2:c.1042-135… XM_011542630.2:c.1042-1355_1042-1354del	N/A	Intron Variant
DEUP1 transcript variant X3	XM_011542631.3:c.1042-135… XM_011542631.3:c.1042-1355_1042-1354del	N/A	Intron Variant
DEUP1 transcript variant X7	XM_011542632.4:c.1042-135… XM_011542632.4:c.1042-1355_1042-1354del	N/A	Intron Variant
DEUP1 transcript variant X12	XM_011542633.3:c.1042-135… XM_011542633.3:c.1042-1355_1042-1354del	N/A	Intron Variant
DEUP1 transcript variant X13	XM_011542635.3:c.1042-135… XM_011542635.3:c.1042-1355_1042-1354del	N/A	Intron Variant
DEUP1 transcript variant X14	XM_011542636.3:c.268-1355… XM_011542636.3:c.268-1355_268-1354del	N/A	Intron Variant
DEUP1 transcript variant X15	XM_011542637.3:c.1042-133… XM_011542637.3:c.1042-1339_1042-1338del	N/A	Intron Variant
DEUP1 transcript variant X16	XM_011542638.3:c.268-1355… XM_011542638.3:c.268-1355_268-1354del	N/A	Intron Variant
DEUP1 transcript variant X5	XM_047426455.1:c.1042-135… XM_047426455.1:c.1042-1355_1042-1354del	N/A	Intron Variant
DEUP1 transcript variant X8	XM_047426456.1:c.1042-135… XM_047426456.1:c.1042-1355_1042-1354del	N/A	Intron Variant
DEUP1 transcript variant X11	XM_047426457.1:c.1042-135… XM_047426457.1:c.1042-1355_1042-1354del	N/A	Intron Variant
DEUP1 transcript variant X4	XR_007062456.1:n.	N/A	Intron Variant
DEUP1 transcript variant X10	XR_007062457.1:n.	N/A	Intron Variant
DEUP1 transcript variant X9	XR_947798.3: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	(T)₁₈=	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅
GRCh38.p14 chr 11	NC_000011.10:g.93393088_93393105=	NC_000011.10:g.93393104_93393105del	NC_000011.10:g.93393105del	NC_000011.10:g.93393105dup	NC_000011.10:g.93393104_93393105dup	NC_000011.10:g.93393103_93393105dup	NC_000011.10:g.93393102_93393105dup	NC_000011.10:g.93393101_93393105dup
GRCh37.p13 chr 11	NC_000011.9:g.93126254_93126271=	NC_000011.9:g.93126270_93126271del	NC_000011.9:g.93126271del	NC_000011.9:g.93126271dup	NC_000011.9:g.93126270_93126271dup	NC_000011.9:g.93126269_93126271dup	NC_000011.9:g.93126268_93126271dup	NC_000011.9:g.93126267_93126271dup
DEUP1 transcript	NM_181645.3:c.1042-1371=	NM_181645.3:c.1042-1355_1042-1354del	NM_181645.3:c.1042-1354del	NM_181645.3:c.1042-1354dup	NM_181645.3:c.1042-1355_1042-1354dup	NM_181645.3:c.1042-1356_1042-1354dup	NM_181645.3:c.1042-1357_1042-1354dup	NM_181645.3:c.1042-1358_1042-1354dup
DEUP1 transcript	NM_181645.4:c.1042-1371=	NM_181645.4:c.1042-1355_1042-1354del	NM_181645.4:c.1042-1354del	NM_181645.4:c.1042-1354dup	NM_181645.4:c.1042-1355_1042-1354dup	NM_181645.4:c.1042-1356_1042-1354dup	NM_181645.4:c.1042-1357_1042-1354dup	NM_181645.4:c.1042-1358_1042-1354dup
DEUP1 transcript variant X5	XM_005273802.1:c.1042-1371=	XM_005273802.1:c.1042-1355_1042-1354del	XM_005273802.1:c.1042-1354del	XM_005273802.1:c.1042-1354dup	XM_005273802.1:c.1042-1355_1042-1354dup	XM_005273802.1:c.1042-1356_1042-1354dup	XM_005273802.1:c.1042-1357_1042-1354dup	XM_005273802.1:c.1042-1358_1042-1354dup
DEUP1 transcript variant X6	XM_005273802.2:c.1042-1371=	XM_005273802.2:c.1042-1355_1042-1354del	XM_005273802.2:c.1042-1354del	XM_005273802.2:c.1042-1354dup	XM_005273802.2:c.1042-1355_1042-1354dup	XM_005273802.2:c.1042-1356_1042-1354dup	XM_005273802.2:c.1042-1357_1042-1354dup	XM_005273802.2:c.1042-1358_1042-1354dup
CCDC67 transcript variant X2	XM_005273803.1:c.1042-1371=	XM_005273803.1:c.1042-1355_1042-1354del	XM_005273803.1:c.1042-1354del	XM_005273803.1:c.1042-1354dup	XM_005273803.1:c.1042-1355_1042-1354dup	XM_005273803.1:c.1042-1356_1042-1354dup	XM_005273803.1:c.1042-1357_1042-1354dup	XM_005273803.1:c.1042-1358_1042-1354dup
DEUP1 transcript variant X1	XM_011542629.3:c.1042-1371=	XM_011542629.3:c.1042-1355_1042-1354del	XM_011542629.3:c.1042-1354del	XM_011542629.3:c.1042-1354dup	XM_011542629.3:c.1042-1355_1042-1354dup	XM_011542629.3:c.1042-1356_1042-1354dup	XM_011542629.3:c.1042-1357_1042-1354dup	XM_011542629.3:c.1042-1358_1042-1354dup
DEUP1 transcript variant X2	XM_011542630.2:c.1042-1371=	XM_011542630.2:c.1042-1355_1042-1354del	XM_011542630.2:c.1042-1354del	XM_011542630.2:c.1042-1354dup	XM_011542630.2:c.1042-1355_1042-1354dup	XM_011542630.2:c.1042-1356_1042-1354dup	XM_011542630.2:c.1042-1357_1042-1354dup	XM_011542630.2:c.1042-1358_1042-1354dup
DEUP1 transcript variant X3	XM_011542631.3:c.1042-1371=	XM_011542631.3:c.1042-1355_1042-1354del	XM_011542631.3:c.1042-1354del	XM_011542631.3:c.1042-1354dup	XM_011542631.3:c.1042-1355_1042-1354dup	XM_011542631.3:c.1042-1356_1042-1354dup	XM_011542631.3:c.1042-1357_1042-1354dup	XM_011542631.3:c.1042-1358_1042-1354dup
DEUP1 transcript variant X7	XM_011542632.4:c.1042-1371=	XM_011542632.4:c.1042-1355_1042-1354del	XM_011542632.4:c.1042-1354del	XM_011542632.4:c.1042-1354dup	XM_011542632.4:c.1042-1355_1042-1354dup	XM_011542632.4:c.1042-1356_1042-1354dup	XM_011542632.4:c.1042-1357_1042-1354dup	XM_011542632.4:c.1042-1358_1042-1354dup
DEUP1 transcript variant X12	XM_011542633.3:c.1042-1371=	XM_011542633.3:c.1042-1355_1042-1354del	XM_011542633.3:c.1042-1354del	XM_011542633.3:c.1042-1354dup	XM_011542633.3:c.1042-1355_1042-1354dup	XM_011542633.3:c.1042-1356_1042-1354dup	XM_011542633.3:c.1042-1357_1042-1354dup	XM_011542633.3:c.1042-1358_1042-1354dup
DEUP1 transcript variant X13	XM_011542635.3:c.1042-1371=	XM_011542635.3:c.1042-1355_1042-1354del	XM_011542635.3:c.1042-1354del	XM_011542635.3:c.1042-1354dup	XM_011542635.3:c.1042-1355_1042-1354dup	XM_011542635.3:c.1042-1356_1042-1354dup	XM_011542635.3:c.1042-1357_1042-1354dup	XM_011542635.3:c.1042-1358_1042-1354dup
DEUP1 transcript variant X14	XM_011542636.3:c.268-1371=	XM_011542636.3:c.268-1355_268-1354del	XM_011542636.3:c.268-1354del	XM_011542636.3:c.268-1354dup	XM_011542636.3:c.268-1355_268-1354dup	XM_011542636.3:c.268-1356_268-1354dup	XM_011542636.3:c.268-1357_268-1354dup	XM_011542636.3:c.268-1358_268-1354dup
DEUP1 transcript variant X15	XM_011542637.3:c.1042-1355=	XM_011542637.3:c.1042-1339_1042-1338del	XM_011542637.3:c.1042-1338del	XM_011542637.3:c.1042-1338dup	XM_011542637.3:c.1042-1339_1042-1338dup	XM_011542637.3:c.1042-1340_1042-1338dup	XM_011542637.3:c.1042-1341_1042-1338dup	XM_011542637.3:c.1042-1342_1042-1338dup
DEUP1 transcript variant X16	XM_011542638.3:c.268-1371=	XM_011542638.3:c.268-1355_268-1354del	XM_011542638.3:c.268-1354del	XM_011542638.3:c.268-1354dup	XM_011542638.3:c.268-1355_268-1354dup	XM_011542638.3:c.268-1356_268-1354dup	XM_011542638.3:c.268-1357_268-1354dup	XM_011542638.3:c.268-1358_268-1354dup
DEUP1 transcript variant X5	XM_047426455.1:c.1042-1371=	XM_047426455.1:c.1042-1355_1042-1354del	XM_047426455.1:c.1042-1354del	XM_047426455.1:c.1042-1354dup	XM_047426455.1:c.1042-1355_1042-1354dup	XM_047426455.1:c.1042-1356_1042-1354dup	XM_047426455.1:c.1042-1357_1042-1354dup	XM_047426455.1:c.1042-1358_1042-1354dup
DEUP1 transcript variant X8	XM_047426456.1:c.1042-1371=	XM_047426456.1:c.1042-1355_1042-1354del	XM_047426456.1:c.1042-1354del	XM_047426456.1:c.1042-1354dup	XM_047426456.1:c.1042-1355_1042-1354dup	XM_047426456.1:c.1042-1356_1042-1354dup	XM_047426456.1:c.1042-1357_1042-1354dup	XM_047426456.1:c.1042-1358_1042-1354dup
DEUP1 transcript variant X11	XM_047426457.1:c.1042-1371=	XM_047426457.1:c.1042-1355_1042-1354del	XM_047426457.1:c.1042-1354del	XM_047426457.1:c.1042-1354dup	XM_047426457.1:c.1042-1355_1042-1354dup	XM_047426457.1:c.1042-1356_1042-1354dup	XM_047426457.1:c.1042-1357_1042-1354dup	XM_047426457.1:c.1042-1358_1042-1354dup

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, 14 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95576454	Oct 12, 2018 (152)
2	SWEGEN	ss3008569072	Nov 08, 2017 (151)
3	SWEGEN	ss3008569073	Nov 08, 2017 (151)
4	SWEGEN	ss3008569074	Nov 08, 2017 (151)
5	URBANLAB	ss3649672422	Oct 12, 2018 (152)
6	EVA_DECODE	ss3692350259	Jul 13, 2019 (153)
7	EVA_DECODE	ss3692350260	Jul 13, 2019 (153)
8	EVA_DECODE	ss3692350261	Jul 13, 2019 (153)
9	EVA_DECODE	ss3692350262	Jul 13, 2019 (153)
10	PACBIO	ss3792158222	Jul 13, 2019 (153)
11	PACBIO	ss3797040625	Jul 13, 2019 (153)
12	EVA	ss3832769932	Apr 26, 2020 (154)
13	GNOMAD	ss4240243796	Apr 26, 2021 (155)
14	GNOMAD	ss4240243798	Apr 26, 2021 (155)
15	GNOMAD	ss4240243799	Apr 26, 2021 (155)
16	GNOMAD	ss4240243800	Apr 26, 2021 (155)
17	GNOMAD	ss4240243801	Apr 26, 2021 (155)
18	GNOMAD	ss4240243803	Apr 26, 2021 (155)
19	GNOMAD	ss4240243804	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5203316757	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5203316758	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5203316759	Apr 26, 2021 (155)
23	1000G_HIGH_COVERAGE	ss5288449472	Oct 16, 2022 (156)
24	1000G_HIGH_COVERAGE	ss5288449473	Oct 16, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5288449474	Oct 16, 2022 (156)
26	HUGCELL_USP	ss5483488855	Oct 16, 2022 (156)
27	HUGCELL_USP	ss5483488856	Oct 16, 2022 (156)
28	HUGCELL_USP	ss5483488857	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5483488858	Oct 16, 2022 (156)
30	TOMMO_GENOMICS	ss5751601373	Oct 16, 2022 (156)
31	TOMMO_GENOMICS	ss5751601374	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5751601375	Oct 16, 2022 (156)
33	EVA	ss5837049717	Oct 16, 2022 (156)
34	EVA	ss5837049718	Oct 16, 2022 (156)
35	EVA	ss5980695505	Oct 16, 2022 (156)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388223332 (NC_000011.10:93393087::T 33240/89376) Row 388223334 (NC_000011.10:93393087::TT 39639/89418) Row 388223335 (NC_000011.10:93393087::TTT 1162/89440)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388223332 (NC_000011.10:93393087::T 33240/89376) Row 388223334 (NC_000011.10:93393087::TT 39639/89418) Row 388223335 (NC_000011.10:93393087::TTT 1162/89440)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388223332 (NC_000011.10:93393087::T 33240/89376) Row 388223334 (NC_000011.10:93393087::TT 39639/89418) Row 388223335 (NC_000011.10:93393087::TTT 1162/89440)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388223332 (NC_000011.10:93393087::T 33240/89376) Row 388223334 (NC_000011.10:93393087::TT 39639/89418) Row 388223335 (NC_000011.10:93393087::TTT 1162/89440)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388223332 (NC_000011.10:93393087::T 33240/89376) Row 388223334 (NC_000011.10:93393087::TT 39639/89418) Row 388223335 (NC_000011.10:93393087::TTT 1162/89440)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388223332 (NC_000011.10:93393087::T 33240/89376) Row 388223334 (NC_000011.10:93393087::TT 39639/89418) Row 388223335 (NC_000011.10:93393087::TTT 1162/89440)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388223332 (NC_000011.10:93393087::T 33240/89376) Row 388223334 (NC_000011.10:93393087::TT 39639/89418) Row 388223335 (NC_000011.10:93393087::TTT 1162/89440)...	-	Apr 26, 2021 (155)
43	8.3KJPN Submission ignored due to conflicting rows: Row 61286064 (NC_000011.9:93126253::T 4678/13766) Row 61286065 (NC_000011.9:93126253::TT 3972/13766) Row 61286066 (NC_000011.9:93126253::TTT 87/13766)	-	Apr 26, 2021 (155)
44	8.3KJPN Submission ignored due to conflicting rows: Row 61286064 (NC_000011.9:93126253::T 4678/13766) Row 61286065 (NC_000011.9:93126253::TT 3972/13766) Row 61286066 (NC_000011.9:93126253::TTT 87/13766)	-	Apr 26, 2021 (155)
45	8.3KJPN Submission ignored due to conflicting rows: Row 61286064 (NC_000011.9:93126253::T 4678/13766) Row 61286065 (NC_000011.9:93126253::TT 3972/13766) Row 61286066 (NC_000011.9:93126253::TTT 87/13766)	-	Apr 26, 2021 (155)
46	14KJPN Submission ignored due to conflicting rows: Row 85438477 (NC_000011.10:93393087::T 7319/21352) Row 85438478 (NC_000011.10:93393087::TT 6420/21352) Row 85438479 (NC_000011.10:93393087::TTT 166/21352)	-	Oct 16, 2022 (156)
47	14KJPN Submission ignored due to conflicting rows: Row 85438477 (NC_000011.10:93393087::T 7319/21352) Row 85438478 (NC_000011.10:93393087::TT 6420/21352) Row 85438479 (NC_000011.10:93393087::TTT 166/21352)	-	Oct 16, 2022 (156)
48	14KJPN Submission ignored due to conflicting rows: Row 85438477 (NC_000011.10:93393087::T 7319/21352) Row 85438478 (NC_000011.10:93393087::TT 6420/21352) Row 85438479 (NC_000011.10:93393087::TTT 166/21352)	-	Oct 16, 2022 (156)
49	ALFA	NC_000011.10 - 93393088	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4240243804, ss5288449474	NC_000011.10:93393087:TT:	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
1582187944	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3692350259, ss4240243803, ss5288449472, ss5483488858	NC_000011.10:93393087:T:	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
1582187944	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3008569073, ss3792158222, ss3797040625, ss3832769932, ss5203316757	NC_000011.9:93126253::T	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4240243796, ss5483488856, ss5751601373	NC_000011.10:93393087::T	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
1582187944	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3692350260	NC_000011.10:93393088::T	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3008569072, ss5203316758, ss5837049717, ss5980695505	NC_000011.9:93126253::TT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3649672422, ss4240243798, ss5483488857, ss5751601374	NC_000011.10:93393087::TT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
1582187944	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3692350261	NC_000011.10:93393088::TT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss95576454	NT_167190.1:38432066::TT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3008569074, ss5203316759, ss5837049718	NC_000011.9:93126253::TTT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4240243799, ss5288449473, ss5483488855, ss5751601375	NC_000011.10:93393087::TTT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
1582187944	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3692350262	NC_000011.10:93393088::TTT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4240243800	NC_000011.10:93393087::TTTT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
1582187944	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4240243801	NC_000011.10:93393087::TTTTT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
1582187944	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000011.10:93393087:TTTTTTTTTTTT… NC_000011.10:93393087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(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 rs1228305437

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1228305437