Name: rs758504791
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.

rs758504791

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:196474125-196474145 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(T)₁₂ / del(T)₁₀ / del(T)₇ / de…
del(T)₁₂ / del(T)₁₀ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₉
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₀=0.000011 (3/264690, TOPMED)
dupT=0.02768 (322/11632, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RNF168 : 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	11632	TTTTTTTTTTTTTTTTTTTTT=0.96054	TTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.01083, TTTTTTTTTTTTTTTTTTTTTT=0.02768, TTTTTTTTTTTTTTTTTTTTTTT=0.00095, TTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.95425	0.008798	0.036952	32
European	Sub	9486	TTTTTTTTTTTTTTTTTTTTT=0.9517	TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0133, TTTTTTTTTTTTTTTTTTTTTT=0.0338, TTTTTTTTTTTTTTTTTTTTTTT=0.0012, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.943818	0.010846	0.045336	32
African	Sub	1154	TTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	34	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1120	TTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	88	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	70	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	92	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	438	TTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	70	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	304	TTTTTTTTTTTTTTTTTTTTT=0.997	TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.003, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.993421	0.0	0.006579	0

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(T)₂₁=0.999989	del(T)₁₀=0.000011
Allele Frequency Aggregator	Total	Global	11632	(T)₂₁=0.96054	del(T)₁₀=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.01083, dupT=0.02768, dupTT=0.00095, dupTTT=0.00000, dup(T)₅=0.00000
Allele Frequency Aggregator	European	Sub	9486	(T)₂₁=0.9517	del(T)₁₀=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0133, dupT=0.0338, dupTT=0.0012, dupTTT=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	1154	(T)₂₁=1.0000	del(T)₁₀=0.0000, del(T)₇=0.0000, 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)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	438	(T)₂₁=1.000	del(T)₁₀=0.000, del(T)₇=0.000, 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)₅=0.000
Allele Frequency Aggregator	Other	Sub	304	(T)₂₁=0.997	del(T)₁₀=0.000, del(T)₇=0.000, 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=0.003, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	92	(T)₂₁=1.00	del(T)₁₀=0.00, del(T)₇=0.00, 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)₅=0.00
Allele Frequency Aggregator	Asian	Sub	88	(T)₂₁=1.00	del(T)₁₀=0.00, del(T)₇=0.00, 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)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	70	(T)₂₁=1.00	del(T)₁₀=0.00, del(T)₇=0.00, 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)₅=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 3	NC_000003.12:g.196474134_196474145del
GRCh38.p14 chr 3	NC_000003.12:g.196474136_196474145del
GRCh38.p14 chr 3	NC_000003.12:g.196474139_196474145del
GRCh38.p14 chr 3	NC_000003.12:g.196474140_196474145del
GRCh38.p14 chr 3	NC_000003.12:g.196474141_196474145del
GRCh38.p14 chr 3	NC_000003.12:g.196474142_196474145del
GRCh38.p14 chr 3	NC_000003.12:g.196474143_196474145del
GRCh38.p14 chr 3	NC_000003.12:g.196474144_196474145del
GRCh38.p14 chr 3	NC_000003.12:g.196474145del
GRCh38.p14 chr 3	NC_000003.12:g.196474145dup
GRCh38.p14 chr 3	NC_000003.12:g.196474144_196474145dup
GRCh38.p14 chr 3	NC_000003.12:g.196474143_196474145dup
GRCh38.p14 chr 3	NC_000003.12:g.196474142_196474145dup
GRCh38.p14 chr 3	NC_000003.12:g.196474141_196474145dup
GRCh38.p14 chr 3	NC_000003.12:g.196474137_196474145dup
GRCh37.p13 chr 3	NC_000003.11:g.196201005_196201016del
GRCh37.p13 chr 3	NC_000003.11:g.196201007_196201016del
GRCh37.p13 chr 3	NC_000003.11:g.196201010_196201016del
GRCh37.p13 chr 3	NC_000003.11:g.196201011_196201016del
GRCh37.p13 chr 3	NC_000003.11:g.196201012_196201016del
GRCh37.p13 chr 3	NC_000003.11:g.196201013_196201016del
GRCh37.p13 chr 3	NC_000003.11:g.196201014_196201016del
GRCh37.p13 chr 3	NC_000003.11:g.196201015_196201016del
GRCh37.p13 chr 3	NC_000003.11:g.196201016del
GRCh37.p13 chr 3	NC_000003.11:g.196201016dup
GRCh37.p13 chr 3	NC_000003.11:g.196201015_196201016dup
GRCh37.p13 chr 3	NC_000003.11:g.196201014_196201016dup
GRCh37.p13 chr 3	NC_000003.11:g.196201013_196201016dup
GRCh37.p13 chr 3	NC_000003.11:g.196201012_196201016dup
GRCh37.p13 chr 3	NC_000003.11:g.196201008_196201016dup
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34633_34644del
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34635_34644del
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34638_34644del
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34639_34644del
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34640_34644del
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34641_34644del
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34642_34644del
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34643_34644del
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34644del
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34644dup
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34643_34644dup
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34642_34644dup
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34641_34644dup
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34640_34644dup
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34636_34644dup

Gene: RNF168, ring finger protein 168 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RNF168 transcript	NM_152617.4:c.762+1095_76… NM_152617.4:c.762+1095_762+1106del	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)₂₁=	del(T)₁₂	del(T)₁₀	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₉
GRCh38.p14 chr 3	NC_000003.12:g.196474125_196474145=	NC_000003.12:g.196474134_196474145del	NC_000003.12:g.196474136_196474145del	NC_000003.12:g.196474139_196474145del	NC_000003.12:g.196474140_196474145del	NC_000003.12:g.196474141_196474145del	NC_000003.12:g.196474142_196474145del	NC_000003.12:g.196474143_196474145del	NC_000003.12:g.196474144_196474145del	NC_000003.12:g.196474145del	NC_000003.12:g.196474145dup	NC_000003.12:g.196474144_196474145dup	NC_000003.12:g.196474143_196474145dup	NC_000003.12:g.196474142_196474145dup	NC_000003.12:g.196474141_196474145dup	NC_000003.12:g.196474137_196474145dup
GRCh37.p13 chr 3	NC_000003.11:g.196200996_196201016=	NC_000003.11:g.196201005_196201016del	NC_000003.11:g.196201007_196201016del	NC_000003.11:g.196201010_196201016del	NC_000003.11:g.196201011_196201016del	NC_000003.11:g.196201012_196201016del	NC_000003.11:g.196201013_196201016del	NC_000003.11:g.196201014_196201016del	NC_000003.11:g.196201015_196201016del	NC_000003.11:g.196201016del	NC_000003.11:g.196201016dup	NC_000003.11:g.196201015_196201016dup	NC_000003.11:g.196201014_196201016dup	NC_000003.11:g.196201013_196201016dup	NC_000003.11:g.196201012_196201016dup	NC_000003.11:g.196201008_196201016dup
RNF168 RefSeqGene (LRG_185)	NG_023425.1:g.34624_34644=	NG_023425.1:g.34633_34644del	NG_023425.1:g.34635_34644del	NG_023425.1:g.34638_34644del	NG_023425.1:g.34639_34644del	NG_023425.1:g.34640_34644del	NG_023425.1:g.34641_34644del	NG_023425.1:g.34642_34644del	NG_023425.1:g.34643_34644del	NG_023425.1:g.34644del	NG_023425.1:g.34644dup	NG_023425.1:g.34643_34644dup	NG_023425.1:g.34642_34644dup	NG_023425.1:g.34641_34644dup	NG_023425.1:g.34640_34644dup	NG_023425.1:g.34636_34644dup
RNF168 transcript	NM_152617.3:c.762+1106=	NM_152617.3:c.762+1095_762+1106del	NM_152617.3:c.762+1097_762+1106del	NM_152617.3:c.762+1100_762+1106del	NM_152617.3:c.762+1101_762+1106del	NM_152617.3:c.762+1102_762+1106del	NM_152617.3:c.762+1103_762+1106del	NM_152617.3:c.762+1104_762+1106del	NM_152617.3:c.762+1105_762+1106del	NM_152617.3:c.762+1106del	NM_152617.3:c.762+1106dup	NM_152617.3:c.762+1105_762+1106dup	NM_152617.3:c.762+1104_762+1106dup	NM_152617.3:c.762+1103_762+1106dup	NM_152617.3:c.762+1102_762+1106dup	NM_152617.3:c.762+1098_762+1106dup
RNF168 transcript	NM_152617.4:c.762+1106=	NM_152617.4:c.762+1095_762+1106del	NM_152617.4:c.762+1097_762+1106del	NM_152617.4:c.762+1100_762+1106del	NM_152617.4:c.762+1101_762+1106del	NM_152617.4:c.762+1102_762+1106del	NM_152617.4:c.762+1103_762+1106del	NM_152617.4:c.762+1104_762+1106del	NM_152617.4:c.762+1105_762+1106del	NM_152617.4:c.762+1106del	NM_152617.4:c.762+1106dup	NM_152617.4:c.762+1105_762+1106dup	NM_152617.4:c.762+1104_762+1106dup	NM_152617.4:c.762+1103_762+1106dup	NM_152617.4:c.762+1102_762+1106dup	NM_152617.4:c.762+1098_762+1106dup

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, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSMP	ss663394404	Apr 01, 2015 (144)
2	SWEGEN	ss2993939977	Nov 08, 2017 (151)
3	EVA	ss3828313550	Apr 25, 2020 (154)
4	KOGIC	ss3953296115	Apr 25, 2020 (154)
5	KOGIC	ss3953296116	Apr 25, 2020 (154)
6	KOGIC	ss3953296117	Apr 25, 2020 (154)
7	KOGIC	ss3953296118	Apr 25, 2020 (154)
8	GNOMAD	ss4088761125	Apr 26, 2021 (155)
9	GNOMAD	ss4088761126	Apr 26, 2021 (155)
10	GNOMAD	ss4088761127	Apr 26, 2021 (155)
11	GNOMAD	ss4088761128	Apr 26, 2021 (155)
12	GNOMAD	ss4088761129	Apr 26, 2021 (155)
13	GNOMAD	ss4088761130	Apr 26, 2021 (155)
14	GNOMAD	ss4088761131	Apr 26, 2021 (155)
15	GNOMAD	ss4088761132	Apr 26, 2021 (155)
16	GNOMAD	ss4088761133	Apr 26, 2021 (155)
17	GNOMAD	ss4088761134	Apr 26, 2021 (155)
18	GNOMAD	ss4088761135	Apr 26, 2021 (155)
19	TOPMED	ss4599315660	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5163670168	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5163670169	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5163670170	Apr 26, 2021 (155)
23	1000G_HIGH_COVERAGE	ss5257638293	Oct 13, 2022 (156)
24	1000G_HIGH_COVERAGE	ss5257638294	Oct 13, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5257638295	Oct 13, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5257638296	Oct 13, 2022 (156)
27	HUGCELL_USP	ss5456613953	Oct 13, 2022 (156)
28	HUGCELL_USP	ss5456613954	Oct 13, 2022 (156)
29	HUGCELL_USP	ss5456613955	Oct 13, 2022 (156)
30	HUGCELL_USP	ss5456613956	Oct 13, 2022 (156)
31	TOMMO_GENOMICS	ss5697162406	Oct 13, 2022 (156)
32	TOMMO_GENOMICS	ss5697162407	Oct 13, 2022 (156)
33	TOMMO_GENOMICS	ss5697162408	Oct 13, 2022 (156)
34	TOMMO_GENOMICS	ss5697162409	Oct 13, 2022 (156)
35	TOMMO_GENOMICS	ss5697162411	Oct 13, 2022 (156)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137121621 (NC_000003.12:196474124::T 17032/113566) Row 137121622 (NC_000003.12:196474124::TT 864/113546) Row 137121623 (NC_000003.12:196474124::TTT 29/113558)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137121621 (NC_000003.12:196474124::T 17032/113566) Row 137121622 (NC_000003.12:196474124::TT 864/113546) Row 137121623 (NC_000003.12:196474124::TTT 29/113558)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137121621 (NC_000003.12:196474124::T 17032/113566) Row 137121622 (NC_000003.12:196474124::TT 864/113546) Row 137121623 (NC_000003.12:196474124::TTT 29/113558)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137121621 (NC_000003.12:196474124::T 17032/113566) Row 137121622 (NC_000003.12:196474124::TT 864/113546) Row 137121623 (NC_000003.12:196474124::TTT 29/113558)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137121621 (NC_000003.12:196474124::T 17032/113566) Row 137121622 (NC_000003.12:196474124::TT 864/113546) Row 137121623 (NC_000003.12:196474124::TTT 29/113558)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137121621 (NC_000003.12:196474124::T 17032/113566) Row 137121622 (NC_000003.12:196474124::TT 864/113546) Row 137121623 (NC_000003.12:196474124::TTT 29/113558)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137121621 (NC_000003.12:196474124::T 17032/113566) Row 137121622 (NC_000003.12:196474124::TT 864/113546) Row 137121623 (NC_000003.12:196474124::TTT 29/113558)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137121621 (NC_000003.12:196474124::T 17032/113566) Row 137121622 (NC_000003.12:196474124::TT 864/113546) Row 137121623 (NC_000003.12:196474124::TTT 29/113558)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137121621 (NC_000003.12:196474124::T 17032/113566) Row 137121622 (NC_000003.12:196474124::TT 864/113546) Row 137121623 (NC_000003.12:196474124::TTT 29/113558)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137121621 (NC_000003.12:196474124::T 17032/113566) Row 137121622 (NC_000003.12:196474124::TT 864/113546) Row 137121623 (NC_000003.12:196474124::TTT 29/113558)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137121621 (NC_000003.12:196474124::T 17032/113566) Row 137121622 (NC_000003.12:196474124::TT 864/113546) Row 137121623 (NC_000003.12:196474124::TTT 29/113558)...	-	Apr 26, 2021 (155)
47	Korean Genome Project Submission ignored due to conflicting rows: Row 9674116 (NC_000003.12:196474126::T 244/1832) Row 9674117 (NC_000003.12:196474126::TT 16/1832) Row 9674118 (NC_000003.12:196474125:T: 290/1832)...	-	Apr 25, 2020 (154)
48	Korean Genome Project Submission ignored due to conflicting rows: Row 9674116 (NC_000003.12:196474126::T 244/1832) Row 9674117 (NC_000003.12:196474126::TT 16/1832) Row 9674118 (NC_000003.12:196474125:T: 290/1832)...	-	Apr 25, 2020 (154)
49	Korean Genome Project Submission ignored due to conflicting rows: Row 9674116 (NC_000003.12:196474126::T 244/1832) Row 9674117 (NC_000003.12:196474126::TT 16/1832) Row 9674118 (NC_000003.12:196474125:T: 290/1832)...	-	Apr 25, 2020 (154)
50	Korean Genome Project Submission ignored due to conflicting rows: Row 9674116 (NC_000003.12:196474126::T 244/1832) Row 9674117 (NC_000003.12:196474126::TT 16/1832) Row 9674118 (NC_000003.12:196474125:T: 290/1832)...	-	Apr 25, 2020 (154)
51	8.3KJPN Submission ignored due to conflicting rows: Row 21639475 (NC_000003.11:196200995:T: 1431/16756) Row 21639476 (NC_000003.11:196200995::T 240/16756) Row 21639477 (NC_000003.11:196200995:TT: 4/16756)	-	Apr 26, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 21639475 (NC_000003.11:196200995:T: 1431/16756) Row 21639476 (NC_000003.11:196200995::T 240/16756) Row 21639477 (NC_000003.11:196200995:TT: 4/16756)	-	Apr 26, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 21639475 (NC_000003.11:196200995:T: 1431/16756) Row 21639476 (NC_000003.11:196200995::T 240/16756) Row 21639477 (NC_000003.11:196200995:TT: 4/16756)	-	Apr 26, 2021 (155)
54	14KJPN Submission ignored due to conflicting rows: Row 30999510 (NC_000003.12:196474124::T 381/28178) Row 30999511 (NC_000003.12:196474124:T: 2437/28178) Row 30999512 (NC_000003.12:196474124:TT: 6/28178)...	-	Oct 13, 2022 (156)
55	14KJPN Submission ignored due to conflicting rows: Row 30999510 (NC_000003.12:196474124::T 381/28178) Row 30999511 (NC_000003.12:196474124:T: 2437/28178) Row 30999512 (NC_000003.12:196474124:TT: 6/28178)...	-	Oct 13, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 30999510 (NC_000003.12:196474124::T 381/28178) Row 30999511 (NC_000003.12:196474124:T: 2437/28178) Row 30999512 (NC_000003.12:196474124:TT: 6/28178)...	-	Oct 13, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 30999510 (NC_000003.12:196474124::T 381/28178) Row 30999511 (NC_000003.12:196474124:T: 2437/28178) Row 30999512 (NC_000003.12:196474124:TT: 6/28178)...	-	Oct 13, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 30999510 (NC_000003.12:196474124::T 381/28178) Row 30999511 (NC_000003.12:196474124:T: 2437/28178) Row 30999512 (NC_000003.12:196474124:TT: 6/28178)...	-	Oct 13, 2022 (156)
59	TopMed	NC_000003.12 - 196474125	Apr 26, 2021 (155)
60	ALFA	NC_000003.12 - 196474125	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
ss5697162411	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTT:	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT
436693215, ss4599315660	NC_000003.12:196474124:TTTTTTTTTT:	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
2662820419	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4088761135	NC_000003.12:196474124:TTTTTTT:	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
2662820419	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
2662820419	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
2662820419	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4088761134	NC_000003.12:196474124:TTTT:	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
2662820419	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4088761133	NC_000003.12:196474124:TTT:	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
2662820419	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5163670170	NC_000003.11:196200995:TT:	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3953296118, ss4088761132, ss5257638296, ss5456613955, ss5697162408	NC_000003.12:196474124:TT:	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
2662820419	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss2993939977, ss5163670168	NC_000003.11:196200995:T:	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4088761131, ss5257638295, ss5456613954, ss5697162407	NC_000003.12:196474124:T:	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
2662820419	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3953296117	NC_000003.12:196474125:T:	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss663394404, ss3828313550, ss5163670169	NC_000003.11:196200995::T	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4088761125, ss5257638293, ss5456613953, ss5697162406	NC_000003.12:196474124::T	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
2662820419	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3953296115	NC_000003.12:196474126::T	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4088761126, ss5257638294, ss5456613956, ss5697162409	NC_000003.12:196474124::TT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
2662820419	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3953296116	NC_000003.12:196474126::TT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4088761127	NC_000003.12:196474124::TTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
2662820419	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4088761128	NC_000003.12:196474124::TTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4088761129	NC_000003.12:196474124::TTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
2662820419	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4088761130	NC_000003.12:196474124::TTTTTTTTT	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3417491519	NC_000003.12:196474124:TTTTTT:	NC_000003.12:196474124:TTTTTTTTTTT… NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

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

No publications for rs758504791

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

rs758504791