Name: rs35396431
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.

rs35396431

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:168999637-168999654 (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(A)₇ / del(A)₆ / del(A)₅ / delA…
del(A)₇ / del(A)₆ / del(A)₅ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₆=0.000015 (4/264690, TOPMED)
dupA=0.02079 (276/13274, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CBR4 : 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	13274	AAAAAAAAAAAAAAAAAA=0.96527	AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00075, AAAAAAAAAAAAAAAA=0.00550, AAAAAAAAAAAAAAAAA=0.00768, AAAAAAAAAAAAAAAAAAA=0.02079, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAA=0.00000	0.963043	0.004503	0.032453	32
European	Sub	10094	AAAAAAAAAAAAAAAAAA=0.95453	AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00099, AAAAAAAAAAAAAAAA=0.00723, AAAAAAAAAAAAAAAAA=0.01001, AAAAAAAAAAAAAAAAAAA=0.02724, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAA=0.00000	0.951144	0.005978	0.042878	32
African	Sub	2056	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	84	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1972	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	102	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	80	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	22	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	104	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	476	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	82	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	360	AAAAAAAAAAAAAAAAAA=0.994	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.003, AAAAAAAAAAAAAAAAAAA=0.003, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	0.994413	0.0	0.005587	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(A)₁₈=0.999985	del(A)₆=0.000015
Allele Frequency Aggregator	Total	Global	13274	(A)₁₈=0.96527	del(A)₇=0.00000, del(A)₆=0.00000, del(A)₅=0.00000, delAAA=0.00075, delAA=0.00550, delA=0.00768, dupA=0.02079, dupAA=0.00000, dupAAA=0.00000, dup(A)₄=0.00000
Allele Frequency Aggregator	European	Sub	10094	(A)₁₈=0.95453	del(A)₇=0.00000, del(A)₆=0.00000, del(A)₅=0.00000, delAAA=0.00099, delAA=0.00723, delA=0.01001, dupA=0.02724, dupAA=0.00000, dupAAA=0.00000, dup(A)₄=0.00000
Allele Frequency Aggregator	African	Sub	2056	(A)₁₈=1.0000	del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	476	(A)₁₈=1.000	del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Other	Sub	360	(A)₁₈=0.994	del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, delAAA=0.000, delAA=0.000, delA=0.003, dupA=0.003, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	104	(A)₁₈=1.000	del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Asian	Sub	102	(A)₁₈=1.000	del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	South Asian	Sub	82	(A)₁₈=1.00	del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=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 4	NC_000004.12:g.168999648_168999654del
GRCh38.p14 chr 4	NC_000004.12:g.168999649_168999654del
GRCh38.p14 chr 4	NC_000004.12:g.168999650_168999654del
GRCh38.p14 chr 4	NC_000004.12:g.168999652_168999654del
GRCh38.p14 chr 4	NC_000004.12:g.168999653_168999654del
GRCh38.p14 chr 4	NC_000004.12:g.168999654del
GRCh38.p14 chr 4	NC_000004.12:g.168999654dup
GRCh38.p14 chr 4	NC_000004.12:g.168999653_168999654dup
GRCh38.p14 chr 4	NC_000004.12:g.168999652_168999654dup
GRCh38.p14 chr 4	NC_000004.12:g.168999651_168999654dup
GRCh37.p13 chr 4	NC_000004.11:g.169920799_169920805del
GRCh37.p13 chr 4	NC_000004.11:g.169920800_169920805del
GRCh37.p13 chr 4	NC_000004.11:g.169920801_169920805del
GRCh37.p13 chr 4	NC_000004.11:g.169920803_169920805del
GRCh37.p13 chr 4	NC_000004.11:g.169920804_169920805del
GRCh37.p13 chr 4	NC_000004.11:g.169920805del
GRCh37.p13 chr 4	NC_000004.11:g.169920805dup
GRCh37.p13 chr 4	NC_000004.11:g.169920804_169920805dup
GRCh37.p13 chr 4	NC_000004.11:g.169920803_169920805dup
GRCh37.p13 chr 4	NC_000004.11:g.169920802_169920805dup

Gene: CBR4, carbonyl reductase 4 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CBR4 transcript	NM_032783.5:c.535+2428_53… NM_032783.5:c.535+2428_535+2434del	N/A	Intron Variant
CBR4 transcript variant X3	XM_005263315.4:c.535+2428… XM_005263315.4:c.535+2428_535+2434del	N/A	Intron Variant
CBR4 transcript variant X1	XM_006714391.2:c.565+2428… XM_006714391.2:c.565+2428_565+2434del	N/A	Intron Variant
CBR4 transcript variant X7	XM_011532385.2:c.400+7112… XM_011532385.2:c.400+7112_400+7118del	N/A	Intron Variant
CBR4 transcript variant X9	XM_011532386.3:c.268+2428… XM_011532386.3:c.268+2428_268+2434del	N/A	Intron Variant
CBR4 transcript variant X2	XM_017008782.2:c.565+2428… XM_017008782.2:c.565+2428_565+2434del	N/A	Intron Variant
CBR4 transcript variant X4	XM_017008783.3:c.565+2428… XM_017008783.3:c.565+2428_565+2434del	N/A	Intron Variant
CBR4 transcript variant X8	XM_047416331.1:c.535+2428… XM_047416331.1:c.535+2428_535+2434del	N/A	Intron Variant
CBR4 transcript variant X5	XR_001741341.2:n.	N/A	Intron Variant
CBR4 transcript variant X6	XR_007057980.1:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₁₈=	del(A)₇	del(A)₆	del(A)₅	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 4	NC_000004.12:g.168999637_168999654=	NC_000004.12:g.168999648_168999654del	NC_000004.12:g.168999649_168999654del	NC_000004.12:g.168999650_168999654del	NC_000004.12:g.168999652_168999654del	NC_000004.12:g.168999653_168999654del	NC_000004.12:g.168999654del	NC_000004.12:g.168999654dup	NC_000004.12:g.168999653_168999654dup	NC_000004.12:g.168999652_168999654dup	NC_000004.12:g.168999651_168999654dup
GRCh37.p13 chr 4	NC_000004.11:g.169920788_169920805=	NC_000004.11:g.169920799_169920805del	NC_000004.11:g.169920800_169920805del	NC_000004.11:g.169920801_169920805del	NC_000004.11:g.169920803_169920805del	NC_000004.11:g.169920804_169920805del	NC_000004.11:g.169920805del	NC_000004.11:g.169920805dup	NC_000004.11:g.169920804_169920805dup	NC_000004.11:g.169920803_169920805dup	NC_000004.11:g.169920802_169920805dup
CBR4 transcript	NM_032783.4:c.535+2434=	NM_032783.4:c.535+2428_535+2434del	NM_032783.4:c.535+2429_535+2434del	NM_032783.4:c.535+2430_535+2434del	NM_032783.4:c.535+2432_535+2434del	NM_032783.4:c.535+2433_535+2434del	NM_032783.4:c.535+2434del	NM_032783.4:c.535+2434dup	NM_032783.4:c.535+2433_535+2434dup	NM_032783.4:c.535+2432_535+2434dup	NM_032783.4:c.535+2431_535+2434dup
CBR4 transcript	NM_032783.5:c.535+2434=	NM_032783.5:c.535+2428_535+2434del	NM_032783.5:c.535+2429_535+2434del	NM_032783.5:c.535+2430_535+2434del	NM_032783.5:c.535+2432_535+2434del	NM_032783.5:c.535+2433_535+2434del	NM_032783.5:c.535+2434del	NM_032783.5:c.535+2434dup	NM_032783.5:c.535+2433_535+2434dup	NM_032783.5:c.535+2432_535+2434dup	NM_032783.5:c.535+2431_535+2434dup
CBR4 transcript variant X2	XM_005263315.1:c.535+2434=	XM_005263315.1:c.535+2428_535+2434del	XM_005263315.1:c.535+2429_535+2434del	XM_005263315.1:c.535+2430_535+2434del	XM_005263315.1:c.535+2432_535+2434del	XM_005263315.1:c.535+2433_535+2434del	XM_005263315.1:c.535+2434del	XM_005263315.1:c.535+2434dup	XM_005263315.1:c.535+2433_535+2434dup	XM_005263315.1:c.535+2432_535+2434dup	XM_005263315.1:c.535+2431_535+2434dup
CBR4 transcript variant X3	XM_005263315.4:c.535+2434=	XM_005263315.4:c.535+2428_535+2434del	XM_005263315.4:c.535+2429_535+2434del	XM_005263315.4:c.535+2430_535+2434del	XM_005263315.4:c.535+2432_535+2434del	XM_005263315.4:c.535+2433_535+2434del	XM_005263315.4:c.535+2434del	XM_005263315.4:c.535+2434dup	XM_005263315.4:c.535+2433_535+2434dup	XM_005263315.4:c.535+2432_535+2434dup	XM_005263315.4:c.535+2431_535+2434dup
CBR4 transcript variant X2	XM_005263316.1:c.536-1352=	XM_005263316.1:c.536-1358_536-1352del	XM_005263316.1:c.536-1357_536-1352del	XM_005263316.1:c.536-1356_536-1352del	XM_005263316.1:c.536-1354_536-1352del	XM_005263316.1:c.536-1353_536-1352del	XM_005263316.1:c.536-1352del	XM_005263316.1:c.536-1352dup	XM_005263316.1:c.536-1353_536-1352dup	XM_005263316.1:c.536-1354_536-1352dup	XM_005263316.1:c.536-1355_536-1352dup
CBR4 transcript variant X1	XM_006714391.2:c.565+2434=	XM_006714391.2:c.565+2428_565+2434del	XM_006714391.2:c.565+2429_565+2434del	XM_006714391.2:c.565+2430_565+2434del	XM_006714391.2:c.565+2432_565+2434del	XM_006714391.2:c.565+2433_565+2434del	XM_006714391.2:c.565+2434del	XM_006714391.2:c.565+2434dup	XM_006714391.2:c.565+2433_565+2434dup	XM_006714391.2:c.565+2432_565+2434dup	XM_006714391.2:c.565+2431_565+2434dup
CBR4 transcript variant X7	XM_011532385.2:c.400+7118=	XM_011532385.2:c.400+7112_400+7118del	XM_011532385.2:c.400+7113_400+7118del	XM_011532385.2:c.400+7114_400+7118del	XM_011532385.2:c.400+7116_400+7118del	XM_011532385.2:c.400+7117_400+7118del	XM_011532385.2:c.400+7118del	XM_011532385.2:c.400+7118dup	XM_011532385.2:c.400+7117_400+7118dup	XM_011532385.2:c.400+7116_400+7118dup	XM_011532385.2:c.400+7115_400+7118dup
CBR4 transcript variant X9	XM_011532386.3:c.268+2434=	XM_011532386.3:c.268+2428_268+2434del	XM_011532386.3:c.268+2429_268+2434del	XM_011532386.3:c.268+2430_268+2434del	XM_011532386.3:c.268+2432_268+2434del	XM_011532386.3:c.268+2433_268+2434del	XM_011532386.3:c.268+2434del	XM_011532386.3:c.268+2434dup	XM_011532386.3:c.268+2433_268+2434dup	XM_011532386.3:c.268+2432_268+2434dup	XM_011532386.3:c.268+2431_268+2434dup
CBR4 transcript variant X2	XM_017008782.2:c.565+2434=	XM_017008782.2:c.565+2428_565+2434del	XM_017008782.2:c.565+2429_565+2434del	XM_017008782.2:c.565+2430_565+2434del	XM_017008782.2:c.565+2432_565+2434del	XM_017008782.2:c.565+2433_565+2434del	XM_017008782.2:c.565+2434del	XM_017008782.2:c.565+2434dup	XM_017008782.2:c.565+2433_565+2434dup	XM_017008782.2:c.565+2432_565+2434dup	XM_017008782.2:c.565+2431_565+2434dup
CBR4 transcript variant X4	XM_017008783.3:c.565+2434=	XM_017008783.3:c.565+2428_565+2434del	XM_017008783.3:c.565+2429_565+2434del	XM_017008783.3:c.565+2430_565+2434del	XM_017008783.3:c.565+2432_565+2434del	XM_017008783.3:c.565+2433_565+2434del	XM_017008783.3:c.565+2434del	XM_017008783.3:c.565+2434dup	XM_017008783.3:c.565+2433_565+2434dup	XM_017008783.3:c.565+2432_565+2434dup	XM_017008783.3:c.565+2431_565+2434dup
CBR4 transcript variant X8	XM_047416331.1:c.535+2434=	XM_047416331.1:c.535+2428_535+2434del	XM_047416331.1:c.535+2429_535+2434del	XM_047416331.1:c.535+2430_535+2434del	XM_047416331.1:c.535+2432_535+2434del	XM_047416331.1:c.535+2433_535+2434del	XM_047416331.1:c.535+2434del	XM_047416331.1:c.535+2434dup	XM_047416331.1:c.535+2433_535+2434dup	XM_047416331.1:c.535+2432_535+2434dup	XM_047416331.1:c.535+2431_535+2434dup

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#.

29 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42262093	Mar 14, 2006 (126)
2	SWEGEN	ss2996003090	Nov 08, 2017 (151)
3	ACPOP	ss3731852137	Jul 13, 2019 (153)
4	ACPOP	ss3731852138	Jul 13, 2019 (153)
5	PACBIO	ss3784941371	Jul 13, 2019 (153)
6	EVA	ss3828952561	Apr 26, 2020 (154)
7	GNOMAD	ss4125224358	Apr 26, 2021 (155)
8	GNOMAD	ss4125224359	Apr 26, 2021 (155)
9	GNOMAD	ss4125224360	Apr 26, 2021 (155)
10	GNOMAD	ss4125224361	Apr 26, 2021 (155)
11	GNOMAD	ss4125224362	Apr 26, 2021 (155)
12	GNOMAD	ss4125224363	Apr 26, 2021 (155)
13	TOPMED	ss4641589270	Apr 26, 2021 (155)
14	TOMMO_GENOMICS	ss5169251920	Apr 26, 2021 (155)
15	TOMMO_GENOMICS	ss5169251921	Apr 26, 2021 (155)
16	TOMMO_GENOMICS	ss5169251922	Apr 26, 2021 (155)
17	1000G_HIGH_COVERAGE	ss5261990786	Oct 13, 2022 (156)
18	1000G_HIGH_COVERAGE	ss5261990787	Oct 13, 2022 (156)
19	1000G_HIGH_COVERAGE	ss5261990788	Oct 13, 2022 (156)
20	1000G_HIGH_COVERAGE	ss5261990789	Oct 13, 2022 (156)
21	1000G_HIGH_COVERAGE	ss5261990790	Oct 13, 2022 (156)
22	HUGCELL_USP	ss5460441697	Oct 13, 2022 (156)
23	HUGCELL_USP	ss5460441698	Oct 13, 2022 (156)
24	HUGCELL_USP	ss5460441699	Oct 13, 2022 (156)
25	HUGCELL_USP	ss5460441700	Oct 13, 2022 (156)
26	TOMMO_GENOMICS	ss5704587001	Oct 13, 2022 (156)
27	TOMMO_GENOMICS	ss5704587003	Oct 13, 2022 (156)
28	TOMMO_GENOMICS	ss5704587004	Oct 13, 2022 (156)
29	EVA	ss5854563493	Oct 13, 2022 (156)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173022421 (NC_000004.12:168999636::A 6286/71910) Row 173022422 (NC_000004.12:168999636::AA 171/72018) Row 173022423 (NC_000004.12:168999636::AAA 53/72034)...	-	Apr 26, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173022421 (NC_000004.12:168999636::A 6286/71910) Row 173022422 (NC_000004.12:168999636::AA 171/72018) Row 173022423 (NC_000004.12:168999636::AAA 53/72034)...	-	Apr 26, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173022421 (NC_000004.12:168999636::A 6286/71910) Row 173022422 (NC_000004.12:168999636::AA 171/72018) Row 173022423 (NC_000004.12:168999636::AAA 53/72034)...	-	Apr 26, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173022421 (NC_000004.12:168999636::A 6286/71910) Row 173022422 (NC_000004.12:168999636::AA 171/72018) Row 173022423 (NC_000004.12:168999636::AAA 53/72034)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173022421 (NC_000004.12:168999636::A 6286/71910) Row 173022422 (NC_000004.12:168999636::AA 171/72018) Row 173022423 (NC_000004.12:168999636::AAA 53/72034)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173022421 (NC_000004.12:168999636::A 6286/71910) Row 173022422 (NC_000004.12:168999636::AA 171/72018) Row 173022423 (NC_000004.12:168999636::AAA 53/72034)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173022421 (NC_000004.12:168999636::A 6286/71910) Row 173022422 (NC_000004.12:168999636::AA 171/72018) Row 173022423 (NC_000004.12:168999636::AAA 53/72034)...	-	Apr 26, 2021 (155)
37	Northern Sweden Submission ignored due to conflicting rows: Row 5137002 (NC_000004.11:169920787::A 10/580) Row 5137003 (NC_000004.11:169920787:A: 10/580)	-	Jul 13, 2019 (153)
38	Northern Sweden Submission ignored due to conflicting rows: Row 5137002 (NC_000004.11:169920787::A 10/580) Row 5137003 (NC_000004.11:169920787:A: 10/580)	-	Jul 13, 2019 (153)
39	8.3KJPN Submission ignored due to conflicting rows: Row 27221227 (NC_000004.11:169920787:AA: 37/16760) Row 27221228 (NC_000004.11:169920787::A 308/16760) Row 27221229 (NC_000004.11:169920787:A: 192/16760)	-	Apr 26, 2021 (155)
40	8.3KJPN Submission ignored due to conflicting rows: Row 27221227 (NC_000004.11:169920787:AA: 37/16760) Row 27221228 (NC_000004.11:169920787::A 308/16760) Row 27221229 (NC_000004.11:169920787:A: 192/16760)	-	Apr 26, 2021 (155)
41	8.3KJPN Submission ignored due to conflicting rows: Row 27221227 (NC_000004.11:169920787:AA: 37/16760) Row 27221228 (NC_000004.11:169920787::A 308/16760) Row 27221229 (NC_000004.11:169920787:A: 192/16760)	-	Apr 26, 2021 (155)
42	14KJPN Submission ignored due to conflicting rows: Row 38424105 (NC_000004.12:168999636:A: 314/28256) Row 38424107 (NC_000004.12:168999636::A 468/28256) Row 38424108 (NC_000004.12:168999636:AA: 60/28256)	-	Oct 13, 2022 (156)
43	14KJPN Submission ignored due to conflicting rows: Row 38424105 (NC_000004.12:168999636:A: 314/28256) Row 38424107 (NC_000004.12:168999636::A 468/28256) Row 38424108 (NC_000004.12:168999636:AA: 60/28256)	-	Oct 13, 2022 (156)
44	14KJPN Submission ignored due to conflicting rows: Row 38424105 (NC_000004.12:168999636:A: 314/28256) Row 38424107 (NC_000004.12:168999636::A 468/28256) Row 38424108 (NC_000004.12:168999636:AA: 60/28256)	-	Oct 13, 2022 (156)
45	TopMed	NC_000004.12 - 168999637	Apr 26, 2021 (155)
46	ALFA	NC_000004.12 - 168999637	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
10266774819	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
478966826, ss4641589270	NC_000004.12:168999636:AAAAAA:	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10266774819	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10266774819	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss2996003090	NC_000004.11:169920787:AAA:	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4125224363, ss5261990790	NC_000004.12:168999636:AAA:	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
10266774819	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5169251920	NC_000004.11:169920787:AA:	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4125224362, ss5261990786, ss5460441700, ss5704587004	NC_000004.12:168999636:AA:	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10266774819	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3731852138, ss3784941371, ss5169251922	NC_000004.11:169920787:A:	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5261990787, ss5460441698, ss5704587001	NC_000004.12:168999636:A:	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10266774819	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss42262093	NT_016354.19:94468525:A:	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3731852137, ss3828952561, ss5169251921	NC_000004.11:169920787::A	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4125224358, ss5261990788, ss5460441697, ss5704587003, ss5854563493	NC_000004.12:168999636::A	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10266774819	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4125224359, ss5261990789, ss5460441699	NC_000004.12:168999636::AA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
10266774819	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4125224360	NC_000004.12:168999636::AAA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
10266774819	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4125224361	NC_000004.12:168999636::AAAA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
10266774819	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:168999636:AAAAAAAAAAA… NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(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 rs35396431

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

rs35396431