Name: rs1491291131
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.

rs1491291131

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:52539546 (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: dupT / insTT / insTTT / ins(T)₄ / …
dupT / insTT / insTTT / ins(T)₄ / ins(T)₅ / ins(T)₃₄ / ins(T)₃₈ / ins(T)₃₉ / ins(T)₄₀ / ins(T)₄₅ / ins(T)₇₁C(T)₁₃
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.00014 (2/14172, 8.3KJPN)
dupT=0.00000 (0/11508, ALFA)
insTT=0.00000 (0/11508, ALFA) (+ 3 more)
insTTT=0.00000 (0/11508, ALFA)
ins(T)₄=0.00000 (0/11508, ALFA)
ins(T)₅=0.00000 (0/11508, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ZNF808 : 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	11508	T=1.00000	TT=0.00000, TTT=0.00000, TTTT=0.00000, TTTTT=0.00000, TTTTTT=0.00000	1.0	N/A
European	Sub	7486	T=1.0000	TT=0.0000, TTT=0.0000, TTTT=0.0000, TTTTT=0.0000, TTTTTT=0.0000	1.0	N/A
African	Sub	2726	T=1.0000	TT=0.0000, TTT=0.0000, TTTT=0.0000, TTTTT=0.0000, TTTTTT=0.0000	1.0	N/A
African Others	Sub	108	T=1.000	TT=0.000, TTT=0.000, TTTT=0.000, TTTTT=0.000, TTTTTT=0.000	1.0	N/A
African American	Sub	2618	T=1.0000	TT=0.0000, TTT=0.0000, TTTT=0.0000, TTTTT=0.0000, TTTTTT=0.0000	1.0	N/A
Asian	Sub	86	T=1.00	TT=0.00, TTT=0.00, TTTT=0.00, TTTTT=0.00, TTTTTT=0.00	1.0	N/A
East Asian	Sub	66	T=1.00	TT=0.00, TTT=0.00, TTTT=0.00, TTTTT=0.00, TTTTTT=0.00	1.0	N/A
Other Asian	Sub	20	T=1.00	TT=0.00, TTT=0.00, TTTT=0.00, TTTTT=0.00, TTTTTT=0.00	1.0	N/A
Latin American 1	Sub	138	T=1.000	TT=0.000, TTT=0.000, TTTT=0.000, TTTTT=0.000, TTTTTT=0.000	1.0	N/A
Latin American 2	Sub	546	T=1.000	TT=0.000, TTT=0.000, TTTT=0.000, TTTTT=0.000, TTTTTT=0.000	1.0	N/A
South Asian	Sub	82	T=1.00	TT=0.00, TTT=0.00, TTTT=0.00, TTTTT=0.00, TTTTTT=0.00	1.0	N/A
Other	Sub	444	T=1.000	TT=0.000, TTT=0.000, TTTT=0.000, TTTTT=0.000, TTTTTT=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
8.3KJPN	JAPANESE	Study-wide	14172	- No frequency provided	dupT=0.00014
Allele Frequency Aggregator	Total	Global	11508	T=1.00000	dupT=0.00000, insTT=0.00000, insTTT=0.00000, ins(T)₄=0.00000, ins(T)₅=0.00000
Allele Frequency Aggregator	European	Sub	7486	T=1.0000	dupT=0.0000, insTT=0.0000, insTTT=0.0000, ins(T)₄=0.0000, ins(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	2726	T=1.0000	dupT=0.0000, insTT=0.0000, insTTT=0.0000, ins(T)₄=0.0000, ins(T)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	546	T=1.000	dupT=0.000, insTT=0.000, insTTT=0.000, ins(T)₄=0.000, ins(T)₅=0.000
Allele Frequency Aggregator	Other	Sub	444	T=1.000	dupT=0.000, insTT=0.000, insTTT=0.000, ins(T)₄=0.000, ins(T)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	138	T=1.000	dupT=0.000, insTT=0.000, insTTT=0.000, ins(T)₄=0.000, ins(T)₅=0.000
Allele Frequency Aggregator	Asian	Sub	86	T=1.00	dupT=0.00, insTT=0.00, insTTT=0.00, ins(T)₄=0.00, ins(T)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	82	T=1.00	dupT=0.00, insTT=0.00, insTTT=0.00, ins(T)₄=0.00, ins(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 19	NC_000019.10:g.52539546dup
GRCh38.p14 chr 19	NC_000019.10:g.52539546_52539547insTT
GRCh38.p14 chr 19	NC_000019.10:g.52539546_52539547insTTT
GRCh38.p14 chr 19	NC_000019.10:g.52539546_52539547insTTTT
GRCh38.p14 chr 19	NC_000019.10:g.52539546_52539547insTTTTT
GRCh38.p14 chr 19	NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19	NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19	NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19	NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19	NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19	NC_000019.10:g.52539546T[72]CTTTTTTTTTTTTT[1]
GRCh37.p13 chr 19	NC_000019.9:g.53042799dup
GRCh37.p13 chr 19	NC_000019.9:g.53042799_53042800insTT
GRCh37.p13 chr 19	NC_000019.9:g.53042799_53042800insTTT
GRCh37.p13 chr 19	NC_000019.9:g.53042799_53042800insTTTT
GRCh37.p13 chr 19	NC_000019.9:g.53042799_53042800insTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.53042799T[72]CTTTTTTTTTTTTT[1]

Gene: ZNF808, zinc finger protein 808 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF808 transcript variant 1	NM_001039886.4:c.-19-3720… NM_001039886.4:c.-19-3720dup	N/A	Intron Variant
ZNF808 transcript variant 2	NM_001321424.2:c.-19-3720… NM_001321424.2:c.-19-3720dup	N/A	Intron Variant
ZNF808 transcript variant 3	NM_001321425.2:c.-19-3720… NM_001321425.2:c.-19-3720dup	N/A	Intron Variant
ZNF808 transcript variant 4	NM_001363550.2:c.-99-3720… NM_001363550.2:c.-99-3720dup	N/A	Intron Variant
ZNF808 transcript variant X5	XM_005258909.5:c.-99-3720… XM_005258909.5:c.-99-3720dup	N/A	Intron Variant
ZNF808 transcript variant X1	XM_024451506.2:c.-20+3500… XM_024451506.2:c.-20+3500dup	N/A	Intron Variant
ZNF808 transcript variant X2	XM_047438802.1:c.-20+3515… XM_047438802.1:c.-20+3515dup	N/A	Intron Variant
ZNF808 transcript variant X3	XM_024451507.2:c.	N/A	Genic Upstream Transcript Variant
ZNF808 transcript variant X4	XR_002958314.2: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=	dupT	insTT	insTTT	ins(T)₄	ins(T)₅	ins(T)₃₄	ins(T)₃₈	ins(T)₃₉	ins(T)₄₀	ins(T)₄₅	ins(T)₇₁C(T)₁₃
GRCh38.p14 chr 19	NC_000019.10:g.52539546=	NC_000019.10:g.52539546dup	NC_000019.10:g.52539546_52539547insTT	NC_000019.10:g.52539546_52539547insTTT	NC_000019.10:g.52539546_52539547insTTTT	NC_000019.10:g.52539546_52539547insTTTTT	NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:g.52539546T[72]CTTTTTTTTTTTTT[1]
GRCh37.p13 chr 19	NC_000019.9:g.53042799=	NC_000019.9:g.53042799dup	NC_000019.9:g.53042799_53042800insTT	NC_000019.9:g.53042799_53042800insTTT	NC_000019.9:g.53042799_53042800insTTTT	NC_000019.9:g.53042799_53042800insTTTTT	NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.9:g.53042799T[72]CTTTTTTTTTTTTT[1]
ZNF808 transcript variant 1	NM_001039886.3:c.-19-3720=	NM_001039886.3:c.-19-3720dup	NM_001039886.3:c.-19-3720_-19-3719insTT	NM_001039886.3:c.-19-3720_-19-3719insTTT	NM_001039886.3:c.-19-3720_-19-3719insTTTT	NM_001039886.3:c.-19-3720_-19-3719insTTTTT	NM_001039886.3:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001039886.3:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001039886.3:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001039886.3:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001039886.3:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001039886.3:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
ZNF808 transcript variant 1	NM_001039886.4:c.-19-3720=	NM_001039886.4:c.-19-3720dup	NM_001039886.4:c.-19-3720_-19-3719insTT	NM_001039886.4:c.-19-3720_-19-3719insTTT	NM_001039886.4:c.-19-3720_-19-3719insTTTT	NM_001039886.4:c.-19-3720_-19-3719insTTTTT	NM_001039886.4:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001039886.4:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001039886.4:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001039886.4:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001039886.4:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001039886.4:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
ZNF808 transcript variant 2	NM_001321424.2:c.-19-3720=	NM_001321424.2:c.-19-3720dup	NM_001321424.2:c.-19-3720_-19-3719insTT	NM_001321424.2:c.-19-3720_-19-3719insTTT	NM_001321424.2:c.-19-3720_-19-3719insTTTT	NM_001321424.2:c.-19-3720_-19-3719insTTTTT	NM_001321424.2:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001321424.2:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001321424.2:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001321424.2:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001321424.2:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001321424.2:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
ZNF808 transcript variant 3	NM_001321425.2:c.-19-3720=	NM_001321425.2:c.-19-3720dup	NM_001321425.2:c.-19-3720_-19-3719insTT	NM_001321425.2:c.-19-3720_-19-3719insTTT	NM_001321425.2:c.-19-3720_-19-3719insTTTT	NM_001321425.2:c.-19-3720_-19-3719insTTTTT	NM_001321425.2:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001321425.2:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001321425.2:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001321425.2:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001321425.2:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001321425.2:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
ZNF808 transcript variant 4	NM_001363550.2:c.-99-3720=	NM_001363550.2:c.-99-3720dup	NM_001363550.2:c.-99-3720_-99-3719insTT	NM_001363550.2:c.-99-3720_-99-3719insTTT	NM_001363550.2:c.-99-3720_-99-3719insTTTT	NM_001363550.2:c.-99-3720_-99-3719insTTTTT	NM_001363550.2:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001363550.2:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001363550.2:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001363550.2:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001363550.2:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001363550.2:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
ZNF808 transcript variant X1	XM_005258906.1:c.-19-3720=	XM_005258906.1:c.-19-3720dup	XM_005258906.1:c.-19-3720_-19-3719insTT	XM_005258906.1:c.-19-3720_-19-3719insTTT	XM_005258906.1:c.-19-3720_-19-3719insTTTT	XM_005258906.1:c.-19-3720_-19-3719insTTTTT	XM_005258906.1:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258906.1:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258906.1:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258906.1:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258906.1:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258906.1:c.-19-3720_-19-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
ZNF808 transcript variant X2	XM_005258907.1:c.-20+3500=	XM_005258907.1:c.-20+3500dup	XM_005258907.1:c.-20+3500_-20+3501insTT	XM_005258907.1:c.-20+3500_-20+3501insTTT	XM_005258907.1:c.-20+3500_-20+3501insTTTT	XM_005258907.1:c.-20+3500_-20+3501insTTTTT	XM_005258907.1:c.-20+3500_-20+3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258907.1:c.-20+3500_-20+3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258907.1:c.-20+3500_-20+3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258907.1:c.-20+3500_-20+3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258907.1:c.-20+3500_-20+3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258907.1:c.-20+3500_-20+3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
ZNF808 transcript variant X3	XM_005258908.1:c.-99-3720=	XM_005258908.1:c.-99-3720dup	XM_005258908.1:c.-99-3720_-99-3719insTT	XM_005258908.1:c.-99-3720_-99-3719insTTT	XM_005258908.1:c.-99-3720_-99-3719insTTTT	XM_005258908.1:c.-99-3720_-99-3719insTTTTT	XM_005258908.1:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258908.1:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258908.1:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258908.1:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258908.1:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258908.1:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
ZNF808 transcript variant X4	XM_005258909.1:c.-99-3720=	XM_005258909.1:c.-99-3720dup	XM_005258909.1:c.-99-3720_-99-3719insTT	XM_005258909.1:c.-99-3720_-99-3719insTTT	XM_005258909.1:c.-99-3720_-99-3719insTTTT	XM_005258909.1:c.-99-3720_-99-3719insTTTTT	XM_005258909.1:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258909.1:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258909.1:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258909.1:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258909.1:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258909.1:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
ZNF808 transcript variant X5	XM_005258909.5:c.-99-3720=	XM_005258909.5:c.-99-3720dup	XM_005258909.5:c.-99-3720_-99-3719insTT	XM_005258909.5:c.-99-3720_-99-3719insTTT	XM_005258909.5:c.-99-3720_-99-3719insTTTT	XM_005258909.5:c.-99-3720_-99-3719insTTTTT	XM_005258909.5:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258909.5:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258909.5:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258909.5:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258909.5:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005258909.5:c.-99-3720_-99-3719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
ZNF808 transcript variant X1	XM_024451506.2:c.-20+3500=	XM_024451506.2:c.-20+3500dup	XM_024451506.2:c.-20+3500_-20+3501insTT	XM_024451506.2:c.-20+3500_-20+3501insTTT	XM_024451506.2:c.-20+3500_-20+3501insTTTT	XM_024451506.2:c.-20+3500_-20+3501insTTTTT	XM_024451506.2:c.-20+3500_-20+3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024451506.2:c.-20+3500_-20+3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024451506.2:c.-20+3500_-20+3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024451506.2:c.-20+3500_-20+3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024451506.2:c.-20+3500_-20+3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_024451506.2:c.-20+3500_-20+3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
ZNF808 transcript variant X2	XM_047438802.1:c.-20+3515=	XM_047438802.1:c.-20+3515dup	XM_047438802.1:c.-20+3515_-20+3516insTT	XM_047438802.1:c.-20+3515_-20+3516insTTT	XM_047438802.1:c.-20+3515_-20+3516insTTTT	XM_047438802.1:c.-20+3515_-20+3516insTTTTT	XM_047438802.1:c.-20+3515_-20+3516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047438802.1:c.-20+3515_-20+3516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047438802.1:c.-20+3515_-20+3516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047438802.1:c.-20+3515_-20+3516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047438802.1:c.-20+3515_-20+3516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047438802.1:c.-20+3515_-20+3516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT

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#.

7 SubSNP, 7 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_DECODE	ss3702969840	Jul 13, 2019 (153)
2	GNOMAD	ss4332954419	Apr 27, 2021 (155)
3	GNOMAD	ss4332954420	Apr 27, 2021 (155)
4	GNOMAD	ss4332954421	Apr 27, 2021 (155)
5	GNOMAD	ss4332954422	Apr 27, 2021 (155)
6	TOMMO_GENOMICS	ss5228245984	Apr 27, 2021 (155)
7	HUGCELL_USP	ss5500082404	Oct 13, 2022 (156)
8	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542908899 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/78266) Row 542908900 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 2/78266) Row 542908901 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/78266)...	-	Apr 27, 2021 (155)
9	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542908899 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/78266) Row 542908900 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 2/78266) Row 542908901 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/78266)...	-	Apr 27, 2021 (155)
10	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542908899 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/78266) Row 542908900 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 2/78266) Row 542908901 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/78266)...	-	Apr 27, 2021 (155)
11	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542908899 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/78266) Row 542908900 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 2/78266) Row 542908901 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/78266)...	-	Apr 27, 2021 (155)
12	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542908899 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/78266) Row 542908900 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 2/78266) Row 542908901 (NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/78266)...	-	Apr 27, 2021 (155)
13	8.3KJPN	NC_000019.9 - 53042799	Apr 27, 2021 (155)
14	ALFA	NC_000019.10 - 52539546	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
86215291, ss5228245984	NC_000019.9:53042798::T	NC_000019.10:52539545:T:TT	(self)
4093927017	NC_000019.10:52539545:T:TT	NC_000019.10:52539545:T:TT	(self)
4093927017	NC_000019.10:52539545:T:TTT	NC_000019.10:52539545:T:TTT	(self)
ss3702969840	NC_000019.10:52539546::TT	NC_000019.10:52539545:T:TTT	(self)
4093927017	NC_000019.10:52539545:T:TTTT	NC_000019.10:52539545:T:TTTT	(self)
4093927017	NC_000019.10:52539545:T:TTTTT	NC_000019.10:52539545:T:TTTTT	(self)
4093927017	NC_000019.10:52539545:T:TTTTTT	NC_000019.10:52539545:T:TTTTTT	(self)
ss5500082404	NC_000019.10:52539545::TTTTTTTTTTT… NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52539545:T:TTTTTTTTTT… NC_000019.10:52539545:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ss4332954419	NC_000019.10:52539545::TTTTTTTTTTT… NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52539545:T:TTTTTTTTTT… NC_000019.10:52539545:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332954420	NC_000019.10:52539545::TTTTTTTTTTT… NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52539545:T:TTTTTTTTTT… NC_000019.10:52539545:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332954421	NC_000019.10:52539545::TTTTTTTTTTT… NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52539545:T:TTTTTTTTTT… NC_000019.10:52539545:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332954422	NC_000019.10:52539545::TTTTTTTTTTT… NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52539545:T:TTTTTTTTTT… NC_000019.10:52539545:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
	NC_000019.10:52539545::TTTTTTTTTTT… NC_000019.10:52539545::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTT	NC_000019.10:52539545:T:TTTTTTTTTT… NC_000019.10:52539545:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss3295879172	NC_000019.10:52539545::T	NC_000019.10:52539545:T:TT
ss3295879173	NC_000019.10:52539545::TT	NC_000019.10:52539545:T:TTT
ss3295879174	NC_000019.10:52539545::TTT	NC_000019.10:52539545:T:TTTT

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

No publications for rs1491291131

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

rs1491291131