Name: rs551368866
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.

rs551368866

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:73406093-73406107 (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)₆ / del(T)₅ / del(T)₄ / delT…
del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₅=0.000011 (3/264690, TOPMED)
del(T)₆=0.0000 (0/7612, ALFA)
del(T)₅=0.0000 (0/7612, ALFA) (+ 11 more)
del(T)₄=0.0000 (0/7612, ALFA)
delTTT=0.0000 (0/7612, ALFA)
delTT=0.0000 (0/7612, ALFA)
delT=0.0000 (0/7612, ALFA)
dupT=0.0000 (0/7612, ALFA)
dupTT=0.0000 (0/7612, ALFA)
dupTTT=0.0000 (0/7612, ALFA)
dup(T)₄=0.0000 (0/7612, ALFA)
dupTTT=0.2026 (781/3854, ALSPAC)
dupTTT=0.2085 (773/3708, TWINSUK)
dupT=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NUMB : 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	7612	TTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
European	Sub	5582	TTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	1304	TTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	56	TTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	1248	TTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	96	TTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	76	TTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	20	TTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	80	TTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 2	Sub	238	TTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	64	TTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	248	TTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(T)₁₅=0.999989	del(T)₅=0.000011
Allele Frequency Aggregator	Total	Global	7612	(T)₁₅=1.0000	del(T)₆=0.0000, del(T)₅=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	European	Sub	5582	(T)₁₅=1.0000	del(T)₆=0.0000, del(T)₅=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	African	Sub	1304	(T)₁₅=1.0000	del(T)₆=0.0000, del(T)₅=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	Other	Sub	248	(T)₁₅=1.000	del(T)₆=0.000, del(T)₅=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 2	Sub	238	(T)₁₅=1.000	del(T)₆=0.000, del(T)₅=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	96	(T)₁₅=1.00	del(T)₆=0.00, del(T)₅=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
Allele Frequency Aggregator	Latin American 1	Sub	80	(T)₁₅=1.00	del(T)₆=0.00, del(T)₅=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
Allele Frequency Aggregator	South Asian	Sub	64	(T)₁₅=1.00	del(T)₆=0.00, del(T)₅=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
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupTTT=0.2026
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupTTT=0.2085
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.38

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 14	NC_000014.9:g.73406102_73406107del
GRCh38.p14 chr 14	NC_000014.9:g.73406103_73406107del
GRCh38.p14 chr 14	NC_000014.9:g.73406104_73406107del
GRCh38.p14 chr 14	NC_000014.9:g.73406105_73406107del
GRCh38.p14 chr 14	NC_000014.9:g.73406106_73406107del
GRCh38.p14 chr 14	NC_000014.9:g.73406107del
GRCh38.p14 chr 14	NC_000014.9:g.73406107dup
GRCh38.p14 chr 14	NC_000014.9:g.73406106_73406107dup
GRCh38.p14 chr 14	NC_000014.9:g.73406105_73406107dup
GRCh38.p14 chr 14	NC_000014.9:g.73406104_73406107dup
GRCh37.p13 chr 14	NC_000014.8:g.73872810_73872815del
GRCh37.p13 chr 14	NC_000014.8:g.73872811_73872815del
GRCh37.p13 chr 14	NC_000014.8:g.73872812_73872815del
GRCh37.p13 chr 14	NC_000014.8:g.73872813_73872815del
GRCh37.p13 chr 14	NC_000014.8:g.73872814_73872815del
GRCh37.p13 chr 14	NC_000014.8:g.73872815del
GRCh37.p13 chr 14	NC_000014.8:g.73872815dup
GRCh37.p13 chr 14	NC_000014.8:g.73872814_73872815dup
GRCh37.p13 chr 14	NC_000014.8:g.73872813_73872815dup
GRCh37.p13 chr 14	NC_000014.8:g.73872812_73872815dup
NUMB RefSeqGene	NG_029061.2:g.57483_57488del
NUMB RefSeqGene	NG_029061.2:g.57484_57488del
NUMB RefSeqGene	NG_029061.2:g.57485_57488del
NUMB RefSeqGene	NG_029061.2:g.57486_57488del
NUMB RefSeqGene	NG_029061.2:g.57487_57488del
NUMB RefSeqGene	NG_029061.2:g.57488del
NUMB RefSeqGene	NG_029061.2:g.57488dup
NUMB RefSeqGene	NG_029061.2:g.57487_57488dup
NUMB RefSeqGene	NG_029061.2:g.57486_57488dup
NUMB RefSeqGene	NG_029061.2:g.57485_57488dup

Gene: NUMB, NUMB endocytic adaptor protein (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NUMB transcript variant 1	NM_001005743.2:c.-101+383… NM_001005743.2:c.-101+3839_-101+3844del	N/A	Intron Variant
NUMB transcript variant 2	NM_001005744.2:c.-101+383… NM_001005744.2:c.-101+3839_-101+3844del	N/A	Intron Variant
NUMB transcript variant 4	NM_001005745.2:c.-101+383… NM_001005745.2:c.-101+3839_-101+3844del	N/A	Intron Variant
NUMB transcript variant 5	NM_001320114.2:c.-16+3839… NM_001320114.2:c.-16+3839_-16+3844del	N/A	Intron Variant
NUMB transcript variant 3	NM_003744.6:c.-101+3839_-… NM_003744.6:c.-101+3839_-101+3844del	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)₁₅=	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄
GRCh38.p14 chr 14	NC_000014.9:g.73406093_73406107=	NC_000014.9:g.73406102_73406107del	NC_000014.9:g.73406103_73406107del	NC_000014.9:g.73406104_73406107del	NC_000014.9:g.73406105_73406107del	NC_000014.9:g.73406106_73406107del	NC_000014.9:g.73406107del	NC_000014.9:g.73406107dup	NC_000014.9:g.73406106_73406107dup	NC_000014.9:g.73406105_73406107dup	NC_000014.9:g.73406104_73406107dup
GRCh37.p13 chr 14	NC_000014.8:g.73872801_73872815=	NC_000014.8:g.73872810_73872815del	NC_000014.8:g.73872811_73872815del	NC_000014.8:g.73872812_73872815del	NC_000014.8:g.73872813_73872815del	NC_000014.8:g.73872814_73872815del	NC_000014.8:g.73872815del	NC_000014.8:g.73872815dup	NC_000014.8:g.73872814_73872815dup	NC_000014.8:g.73872813_73872815dup	NC_000014.8:g.73872812_73872815dup
NUMB RefSeqGene	NG_029061.2:g.57474_57488=	NG_029061.2:g.57483_57488del	NG_029061.2:g.57484_57488del	NG_029061.2:g.57485_57488del	NG_029061.2:g.57486_57488del	NG_029061.2:g.57487_57488del	NG_029061.2:g.57488del	NG_029061.2:g.57488dup	NG_029061.2:g.57487_57488dup	NG_029061.2:g.57486_57488dup	NG_029061.2:g.57485_57488dup
NUMB transcript variant 1	NM_001005743.1:c.-101+3844=	NM_001005743.1:c.-101+3839_-101+3844del	NM_001005743.1:c.-101+3840_-101+3844del	NM_001005743.1:c.-101+3841_-101+3844del	NM_001005743.1:c.-101+3842_-101+3844del	NM_001005743.1:c.-101+3843_-101+3844del	NM_001005743.1:c.-101+3844del	NM_001005743.1:c.-101+3844dup	NM_001005743.1:c.-101+3843_-101+3844dup	NM_001005743.1:c.-101+3842_-101+3844dup	NM_001005743.1:c.-101+3841_-101+3844dup
NUMB transcript variant 1	NM_001005743.2:c.-101+3844=	NM_001005743.2:c.-101+3839_-101+3844del	NM_001005743.2:c.-101+3840_-101+3844del	NM_001005743.2:c.-101+3841_-101+3844del	NM_001005743.2:c.-101+3842_-101+3844del	NM_001005743.2:c.-101+3843_-101+3844del	NM_001005743.2:c.-101+3844del	NM_001005743.2:c.-101+3844dup	NM_001005743.2:c.-101+3843_-101+3844dup	NM_001005743.2:c.-101+3842_-101+3844dup	NM_001005743.2:c.-101+3841_-101+3844dup
NUMB transcript variant 2	NM_001005744.1:c.-101+3844=	NM_001005744.1:c.-101+3839_-101+3844del	NM_001005744.1:c.-101+3840_-101+3844del	NM_001005744.1:c.-101+3841_-101+3844del	NM_001005744.1:c.-101+3842_-101+3844del	NM_001005744.1:c.-101+3843_-101+3844del	NM_001005744.1:c.-101+3844del	NM_001005744.1:c.-101+3844dup	NM_001005744.1:c.-101+3843_-101+3844dup	NM_001005744.1:c.-101+3842_-101+3844dup	NM_001005744.1:c.-101+3841_-101+3844dup
NUMB transcript variant 2	NM_001005744.2:c.-101+3844=	NM_001005744.2:c.-101+3839_-101+3844del	NM_001005744.2:c.-101+3840_-101+3844del	NM_001005744.2:c.-101+3841_-101+3844del	NM_001005744.2:c.-101+3842_-101+3844del	NM_001005744.2:c.-101+3843_-101+3844del	NM_001005744.2:c.-101+3844del	NM_001005744.2:c.-101+3844dup	NM_001005744.2:c.-101+3843_-101+3844dup	NM_001005744.2:c.-101+3842_-101+3844dup	NM_001005744.2:c.-101+3841_-101+3844dup
NUMB transcript variant 4	NM_001005745.1:c.-101+3844=	NM_001005745.1:c.-101+3839_-101+3844del	NM_001005745.1:c.-101+3840_-101+3844del	NM_001005745.1:c.-101+3841_-101+3844del	NM_001005745.1:c.-101+3842_-101+3844del	NM_001005745.1:c.-101+3843_-101+3844del	NM_001005745.1:c.-101+3844del	NM_001005745.1:c.-101+3844dup	NM_001005745.1:c.-101+3843_-101+3844dup	NM_001005745.1:c.-101+3842_-101+3844dup	NM_001005745.1:c.-101+3841_-101+3844dup
NUMB transcript variant 4	NM_001005745.2:c.-101+3844=	NM_001005745.2:c.-101+3839_-101+3844del	NM_001005745.2:c.-101+3840_-101+3844del	NM_001005745.2:c.-101+3841_-101+3844del	NM_001005745.2:c.-101+3842_-101+3844del	NM_001005745.2:c.-101+3843_-101+3844del	NM_001005745.2:c.-101+3844del	NM_001005745.2:c.-101+3844dup	NM_001005745.2:c.-101+3843_-101+3844dup	NM_001005745.2:c.-101+3842_-101+3844dup	NM_001005745.2:c.-101+3841_-101+3844dup
NUMB transcript variant 5	NM_001320114.2:c.-16+3844=	NM_001320114.2:c.-16+3839_-16+3844del	NM_001320114.2:c.-16+3840_-16+3844del	NM_001320114.2:c.-16+3841_-16+3844del	NM_001320114.2:c.-16+3842_-16+3844del	NM_001320114.2:c.-16+3843_-16+3844del	NM_001320114.2:c.-16+3844del	NM_001320114.2:c.-16+3844dup	NM_001320114.2:c.-16+3843_-16+3844dup	NM_001320114.2:c.-16+3842_-16+3844dup	NM_001320114.2:c.-16+3841_-16+3844dup
NUMB transcript variant 3	NM_003744.5:c.-101+3844=	NM_003744.5:c.-101+3839_-101+3844del	NM_003744.5:c.-101+3840_-101+3844del	NM_003744.5:c.-101+3841_-101+3844del	NM_003744.5:c.-101+3842_-101+3844del	NM_003744.5:c.-101+3843_-101+3844del	NM_003744.5:c.-101+3844del	NM_003744.5:c.-101+3844dup	NM_003744.5:c.-101+3843_-101+3844dup	NM_003744.5:c.-101+3842_-101+3844dup	NM_003744.5:c.-101+3841_-101+3844dup
NUMB transcript variant 3	NM_003744.6:c.-101+3844=	NM_003744.6:c.-101+3839_-101+3844del	NM_003744.6:c.-101+3840_-101+3844del	NM_003744.6:c.-101+3841_-101+3844del	NM_003744.6:c.-101+3842_-101+3844del	NM_003744.6:c.-101+3843_-101+3844del	NM_003744.6:c.-101+3844del	NM_003744.6:c.-101+3844dup	NM_003744.6:c.-101+3843_-101+3844dup	NM_003744.6:c.-101+3842_-101+3844dup	NM_003744.6:c.-101+3841_-101+3844dup
NUMB transcript variant X3	XM_005268142.1:c.-16+3844=	XM_005268142.1:c.-16+3839_-16+3844del	XM_005268142.1:c.-16+3840_-16+3844del	XM_005268142.1:c.-16+3841_-16+3844del	XM_005268142.1:c.-16+3842_-16+3844del	XM_005268142.1:c.-16+3843_-16+3844del	XM_005268142.1:c.-16+3844del	XM_005268142.1:c.-16+3844dup	XM_005268142.1:c.-16+3843_-16+3844dup	XM_005268142.1:c.-16+3842_-16+3844dup	XM_005268142.1:c.-16+3841_-16+3844dup
NUMB transcript variant X5	XM_005268144.1:c.-16+3844=	XM_005268144.1:c.-16+3839_-16+3844del	XM_005268144.1:c.-16+3840_-16+3844del	XM_005268144.1:c.-16+3841_-16+3844del	XM_005268144.1:c.-16+3842_-16+3844del	XM_005268144.1:c.-16+3843_-16+3844del	XM_005268144.1:c.-16+3844del	XM_005268144.1:c.-16+3844dup	XM_005268144.1:c.-16+3843_-16+3844dup	XM_005268144.1:c.-16+3842_-16+3844dup	XM_005268144.1:c.-16+3841_-16+3844dup
NUMB transcript variant X6	XM_005268145.1:c.-16+3844=	XM_005268145.1:c.-16+3839_-16+3844del	XM_005268145.1:c.-16+3840_-16+3844del	XM_005268145.1:c.-16+3841_-16+3844del	XM_005268145.1:c.-16+3842_-16+3844del	XM_005268145.1:c.-16+3843_-16+3844del	XM_005268145.1:c.-16+3844del	XM_005268145.1:c.-16+3844dup	XM_005268145.1:c.-16+3843_-16+3844dup	XM_005268145.1:c.-16+3842_-16+3844dup	XM_005268145.1:c.-16+3841_-16+3844dup
NUMB transcript variant X7	XM_005268146.1:c.-16+3844=	XM_005268146.1:c.-16+3839_-16+3844del	XM_005268146.1:c.-16+3840_-16+3844del	XM_005268146.1:c.-16+3841_-16+3844del	XM_005268146.1:c.-16+3842_-16+3844del	XM_005268146.1:c.-16+3843_-16+3844del	XM_005268146.1:c.-16+3844del	XM_005268146.1:c.-16+3844dup	XM_005268146.1:c.-16+3843_-16+3844dup	XM_005268146.1:c.-16+3842_-16+3844dup	XM_005268146.1:c.-16+3841_-16+3844dup

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#.

43 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95645280	Oct 12, 2018 (152)
2	SSIP	ss947332338	Aug 21, 2014 (142)
3	EVA_GENOME_DK	ss1574783248	Apr 01, 2015 (144)
4	EVA_UK10K_ALSPAC	ss1708117171	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1708117315	Apr 01, 2015 (144)
6	PADH-LAB_SPU	ss1751340845	Sep 08, 2015 (146)
7	SWEGEN	ss3012448468	Nov 08, 2017 (151)
8	URBANLAB	ss3650236698	Oct 12, 2018 (152)
9	EVA_DECODE	ss3696978206	Jul 13, 2019 (153)
10	EVA_DECODE	ss3696978207	Jul 13, 2019 (153)
11	EVA_DECODE	ss3696978208	Jul 13, 2019 (153)
12	EVA_DECODE	ss3696978210	Jul 13, 2019 (153)
13	EVA_DECODE	ss3696978214	Jul 13, 2019 (153)
14	PACBIO	ss3787707200	Jul 13, 2019 (153)
15	PACBIO	ss3792738714	Jul 13, 2019 (153)
16	PACBIO	ss3797623052	Jul 13, 2019 (153)
17	EVA	ss3833997595	Apr 27, 2020 (154)
18	EVA	ss3846079558	Apr 27, 2020 (154)
19	KOGIC	ss3975231645	Apr 27, 2020 (154)
20	KOGIC	ss3975231646	Apr 27, 2020 (154)
21	GNOMAD	ss4280663757	Apr 26, 2021 (155)
22	GNOMAD	ss4280663758	Apr 26, 2021 (155)
23	GNOMAD	ss4280663759	Apr 26, 2021 (155)
24	GNOMAD	ss4280663760	Apr 26, 2021 (155)
25	GNOMAD	ss4280663763	Apr 26, 2021 (155)
26	GNOMAD	ss4280663764	Apr 26, 2021 (155)
27	GNOMAD	ss4280663765	Apr 26, 2021 (155)
28	GNOMAD	ss4280663766	Apr 26, 2021 (155)
29	TOPMED	ss4975894495	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5213916104	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5213916106	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5213916107	Apr 26, 2021 (155)
33	HUGCELL_USP	ss5490745310	Oct 16, 2022 (156)
34	HUGCELL_USP	ss5490745311	Oct 16, 2022 (156)
35	HUGCELL_USP	ss5490745312	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5766917348	Oct 16, 2022 (156)
37	TOMMO_GENOMICS	ss5766917351	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5766917352	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5766917353	Oct 16, 2022 (156)
40	YY_MCH	ss5814882568	Oct 16, 2022 (156)
41	EVA	ss5841319189	Oct 16, 2022 (156)
42	EVA	ss5841319190	Oct 16, 2022 (156)
43	EVA	ss5851098549	Oct 16, 2022 (156)
44	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 73872801	Oct 12, 2018 (152)
45	The Danish reference pan genome	NC_000014.8 - 73872801	Apr 27, 2020 (154)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455559794 (NC_000014.9:73406092::T 38053/98962) Row 455559795 (NC_000014.9:73406092::TT 1895/99246) Row 455559796 (NC_000014.9:73406092::TTT 47/99314)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455559794 (NC_000014.9:73406092::T 38053/98962) Row 455559795 (NC_000014.9:73406092::TT 1895/99246) Row 455559796 (NC_000014.9:73406092::TTT 47/99314)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455559794 (NC_000014.9:73406092::T 38053/98962) Row 455559795 (NC_000014.9:73406092::TT 1895/99246) Row 455559796 (NC_000014.9:73406092::TTT 47/99314)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455559794 (NC_000014.9:73406092::T 38053/98962) Row 455559795 (NC_000014.9:73406092::TT 1895/99246) Row 455559796 (NC_000014.9:73406092::TTT 47/99314)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455559794 (NC_000014.9:73406092::T 38053/98962) Row 455559795 (NC_000014.9:73406092::TT 1895/99246) Row 455559796 (NC_000014.9:73406092::TTT 47/99314)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455559794 (NC_000014.9:73406092::T 38053/98962) Row 455559795 (NC_000014.9:73406092::TT 1895/99246) Row 455559796 (NC_000014.9:73406092::TTT 47/99314)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455559794 (NC_000014.9:73406092::T 38053/98962) Row 455559795 (NC_000014.9:73406092::TT 1895/99246) Row 455559796 (NC_000014.9:73406092::TTT 47/99314)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455559794 (NC_000014.9:73406092::T 38053/98962) Row 455559795 (NC_000014.9:73406092::TT 1895/99246) Row 455559796 (NC_000014.9:73406092::TTT 47/99314)...	-	Apr 26, 2021 (155)
54	Korean Genome Project Submission ignored due to conflicting rows: Row 31609646 (NC_000014.9:73406092::T 195/1108) Row 31609647 (NC_000014.9:73406092::TT 6/1108)	-	Apr 27, 2020 (154)
55	Korean Genome Project Submission ignored due to conflicting rows: Row 31609646 (NC_000014.9:73406092::T 195/1108) Row 31609647 (NC_000014.9:73406092::TT 6/1108)	-	Apr 27, 2020 (154)
56	8.3KJPN Submission ignored due to conflicting rows: Row 71885411 (NC_000014.8:73872800::T 1638/8590) Row 71885413 (NC_000014.8:73872800:T: 5/8590) Row 71885414 (NC_000014.8:73872800:TTT: 1/8590)	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 71885411 (NC_000014.8:73872800::T 1638/8590) Row 71885413 (NC_000014.8:73872800:T: 5/8590) Row 71885414 (NC_000014.8:73872800:TTT: 1/8590)	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 71885411 (NC_000014.8:73872800::T 1638/8590) Row 71885413 (NC_000014.8:73872800:T: 5/8590) Row 71885414 (NC_000014.8:73872800:TTT: 1/8590)	-	Apr 26, 2021 (155)
59	14KJPN Submission ignored due to conflicting rows: Row 100754452 (NC_000014.9:73406092::T 2753/28258) Row 100754455 (NC_000014.9:73406092:T: 7/28258) Row 100754456 (NC_000014.9:73406092::TT 2/28258)...	-	Oct 16, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 100754452 (NC_000014.9:73406092::T 2753/28258) Row 100754455 (NC_000014.9:73406092:T: 7/28258) Row 100754456 (NC_000014.9:73406092::TT 2/28258)...	-	Oct 16, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 100754452 (NC_000014.9:73406092::T 2753/28258) Row 100754455 (NC_000014.9:73406092:T: 7/28258) Row 100754456 (NC_000014.9:73406092::TT 2/28258)...	-	Oct 16, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 100754452 (NC_000014.9:73406092::T 2753/28258) Row 100754455 (NC_000014.9:73406092:T: 7/28258) Row 100754456 (NC_000014.9:73406092::TT 2/28258)...	-	Oct 16, 2022 (156)
63	TopMed	NC_000014.9 - 73406093	Apr 26, 2021 (155)
64	UK 10K study - Twins	NC_000014.8 - 73872801	Oct 12, 2018 (152)
65	ALFA	NC_000014.9 - 73406093	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
1200647078	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTT	(self)
191440154, ss4975894495	NC_000014.9:73406092:TTTTT:	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
1200647078	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4280663766	NC_000014.9:73406092:TTTT:	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
1200647078	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss5213916107	NC_000014.8:73872800:TTT:	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4280663765, ss5766917353	NC_000014.9:73406092:TTT:	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
1200647078	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4280663764	NC_000014.9:73406092:TT:	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
1200647078	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3012448468, ss5213916106	NC_000014.8:73872800:T:	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3696978206, ss4280663763, ss5490745312, ss5766917351	NC_000014.9:73406092:T:	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
1200647078	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
460425, ss947332338, ss1574783248, ss1751340845, ss3787707200, ss3792738714, ss3797623052, ss3833997595, ss5213916104, ss5841319189	NC_000014.8:73872800::T	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3650236698, ss3846079558, ss3975231645, ss4280663757, ss5490745310, ss5766917348, ss5814882568, ss5851098549	NC_000014.9:73406092::T	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
1200647078	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3696978207	NC_000014.9:73406093::T	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3696978214	NC_000014.9:73406098::T	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss95645280	NT_026437.12:54872815::T	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3975231646, ss4280663758, ss5490745311, ss5766917352	NC_000014.9:73406092::TT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
1200647078	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3696978208	NC_000014.9:73406093::TT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
35904355, 35904355, ss1708117171, ss1708117315, ss5841319190	NC_000014.8:73872800::TTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4280663759	NC_000014.9:73406092::TTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
1200647078	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3696978210	NC_000014.9:73406093::TTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4280663760	NC_000014.9:73406092::TTTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
1200647078	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2367618276	NC_000014.8:73872800:TTTT:	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTTT
ss2367618277	NC_000014.8:73872800:TTTTT:	NC_000014.9:73406092:TTTTTTTTTTTTT… NC_000014.9:73406092:TTTTTTTTTTTTTTT:TTTTTTTTTT

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

No publications for rs551368866

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

rs551368866