Name: rs1313427628
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.

rs1313427628

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:74830017-74830029 (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: delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.01264 (155/12261, ALFA)
delA=0.041 (24/590, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KAT6B : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

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
Allele Frequency Aggregator	Total	Global	12261	(A)₁₃=0.98263	delAA=0.00000, delA=0.01264, dupA=0.00473, dupAA=0.00000
Allele Frequency Aggregator	European	Sub	10393	(A)₁₃=0.97960	delAA=0.00000, delA=0.01491, dupA=0.00548, dupAA=0.00000
Allele Frequency Aggregator	African	Sub	952	(A)₁₃=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	416	(A)₁₃=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	290	(A)₁₃=0.997	delAA=0.000, delA=0.000, dupA=0.003, dupAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	94	(A)₁₃=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Asian	Sub	78	(A)₁₃=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	South Asian	Sub	38	(A)₁₃=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Northern Sweden	ACPOP	Study-wide	590	(A)₁₃=0.959	delA=0.041

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 10	NC_000010.11:g.74830028_74830029del
GRCh38.p14 chr 10	NC_000010.11:g.74830029del
GRCh38.p14 chr 10	NC_000010.11:g.74830029dup
GRCh38.p14 chr 10	NC_000010.11:g.74830028_74830029dup
GRCh37.p13 chr 10	NC_000010.10:g.76589786_76589787del
GRCh37.p13 chr 10	NC_000010.10:g.76589787del
GRCh37.p13 chr 10	NC_000010.10:g.76589787dup
GRCh37.p13 chr 10	NC_000010.10:g.76589786_76589787dup
KAT6B RefSeqGene	NG_032048.1:g.8616_8617del
KAT6B RefSeqGene	NG_032048.1:g.8617del
KAT6B RefSeqGene	NG_032048.1:g.8617dup
KAT6B RefSeqGene	NG_032048.1:g.8616_8617dup
GRCh38.p14 chr 10 fix patch HG2191_PATCH	NW_009646202.1:g.34704_34705del
GRCh38.p14 chr 10 fix patch HG2191_PATCH	NW_009646202.1:g.34705del
GRCh38.p14 chr 10 fix patch HG2191_PATCH	NW_009646202.1:g.34705dup
GRCh38.p14 chr 10 fix patch HG2191_PATCH	NW_009646202.1:g.34704_34705dup

Gene: KAT6B, lysine acetyltransferase 6B (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KAT6B transcript variant 2	NM_001256468.2:c.-329+324… NM_001256468.2:c.-329+3243_-329+3244del	N/A	Intron Variant
KAT6B transcript variant 3	NM_001256469.2:c.-329+324… NM_001256469.2:c.-329+3243_-329+3244del	N/A	Intron Variant
KAT6B transcript variant 4	NM_001370132.1:c.-329+324… NM_001370132.1:c.-329+3243_-329+3244del	N/A	Intron Variant
KAT6B transcript variant 5	NM_001370133.1:c.-329+435… NM_001370133.1:c.-329+4354_-329+4355del	N/A	Intron Variant
KAT6B transcript variant 6	NM_001370134.1:c.-867+435… NM_001370134.1:c.-867+4354_-867+4355del	N/A	Intron Variant
KAT6B transcript variant 7	NM_001370135.1:c.-867+324… NM_001370135.1:c.-867+3243_-867+3244del	N/A	Intron Variant
KAT6B transcript variant 8	NM_001370136.1:c.-329+435… NM_001370136.1:c.-329+4354_-329+4355del	N/A	Intron Variant
KAT6B transcript variant 9	NM_001370137.1:c.-360+324… NM_001370137.1:c.-360+3243_-360+3244del	N/A	Intron Variant
KAT6B transcript variant 10	NM_001370138.1:c.-329+435… NM_001370138.1:c.-329+4354_-329+4355del	N/A	Intron Variant
KAT6B transcript variant 11	NM_001370139.1:c.-360+467… NM_001370139.1:c.-360+4672_-360+4673del	N/A	Intron Variant
KAT6B transcript variant 12	NM_001370140.1:c.-329+435… NM_001370140.1:c.-329+4354_-329+4355del	N/A	Intron Variant
KAT6B transcript variant 13	NM_001370141.1:c.-259+435… NM_001370141.1:c.-259+4354_-259+4355del	N/A	Intron Variant
KAT6B transcript variant 14	NM_001370142.1:c.-259+324… NM_001370142.1:c.-259+3243_-259+3244del	N/A	Intron Variant
KAT6B transcript variant 15	NM_001370143.1:c.-259+435… NM_001370143.1:c.-259+4354_-259+4355del	N/A	Intron Variant
KAT6B transcript variant 16	NM_001370144.1:c.-329+324… NM_001370144.1:c.-329+3243_-329+3244del	N/A	Intron Variant
KAT6B transcript variant 1	NM_012330.4:c.-329+3243_-… NM_012330.4:c.-329+3243_-329+3244del	N/A	Intron Variant
KAT6B transcript variant X1	XM_005269664.3:c.-329+466… XM_005269664.3:c.-329+4668_-329+4669del	N/A	Intron Variant
KAT6B transcript variant X4	XM_017016004.3:c.-329+435… XM_017016004.3:c.-329+4354_-329+4355del	N/A	Intron Variant
KAT6B transcript variant X2	XM_047424911.1:c.-360+435… XM_047424911.1:c.-360+4354_-360+4355del	N/A	Intron Variant
KAT6B transcript variant X3	XM_047424912.1:c.-360+466… XM_047424912.1:c.-360+4668_-360+4669del	N/A	Intron Variant
KAT6B transcript variant X5	XM_047424913.1:c.-329+466… XM_047424913.1:c.-329+4668_-329+4669del	N/A	Intron Variant
KAT6B transcript variant X6	XM_047424915.1:c.-329+324… XM_047424915.1:c.-329+3243_-329+3244del	N/A	Intron Variant
KAT6B transcript variant X7	XM_047424916.1:c.-329+466… XM_047424916.1:c.-329+4668_-329+4669del	N/A	Intron Variant
KAT6B transcript variant X8	XM_047424917.1:c.-360+324… XM_047424917.1:c.-360+3243_-360+3244del	N/A	Intron Variant
KAT6B transcript variant X9	XM_047424918.1:c.-360+435… XM_047424918.1:c.-360+4354_-360+4355del	N/A	Intron Variant
KAT6B transcript variant X10	XM_047424919.1:c.-360+466… XM_047424919.1:c.-360+4668_-360+4669del	N/A	Intron Variant
KAT6B transcript variant X11	XM_047424920.1:c.-329+435… XM_047424920.1:c.-329+4354_-329+4355del	N/A	Intron Variant
KAT6B transcript variant X12	XM_047424921.1:c.-329+324… XM_047424921.1:c.-329+3243_-329+3244del	N/A	Intron Variant
KAT6B transcript variant X13	XM_047424922.1:c.-360+435… XM_047424922.1:c.-360+4354_-360+4355del	N/A	Intron Variant
KAT6B transcript variant X14	XM_047424923.1:c.-329+466… XM_047424923.1:c.-329+4668_-329+4669del	N/A	Intron Variant
KAT6B transcript variant X15	XM_047424924.1:c.-360+435… XM_047424924.1:c.-360+4354_-360+4355del	N/A	Intron Variant
KAT6B transcript variant X16	XM_047424926.1:c.-360+324… XM_047424926.1:c.-360+3243_-360+3244del	N/A	Intron Variant
KAT6B transcript variant X17	XM_047424927.1:c.-360+466… XM_047424927.1:c.-360+4668_-360+4669del	N/A	Intron Variant
KAT6B transcript variant X18	XM_047424928.1:c.-329+435… XM_047424928.1:c.-329+4354_-329+4355del	N/A	Intron Variant
KAT6B transcript variant X19	XM_047424929.1:c.-329+466… XM_047424929.1:c.-329+4668_-329+4669del	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)₁₃=	delAA	delA	dupA	dupAA
GRCh38.p14 chr 10	NC_000010.11:g.74830017_74830029=	NC_000010.11:g.74830028_74830029del	NC_000010.11:g.74830029del	NC_000010.11:g.74830029dup	NC_000010.11:g.74830028_74830029dup
GRCh37.p13 chr 10	NC_000010.10:g.76589775_76589787=	NC_000010.10:g.76589786_76589787del	NC_000010.10:g.76589787del	NC_000010.10:g.76589787dup	NC_000010.10:g.76589786_76589787dup
KAT6B RefSeqGene	NG_032048.1:g.8605_8617=	NG_032048.1:g.8616_8617del	NG_032048.1:g.8617del	NG_032048.1:g.8617dup	NG_032048.1:g.8616_8617dup
GRCh38.p14 chr 10 fix patch HG2191_PATCH	NW_009646202.1:g.34693_34705=	NW_009646202.1:g.34704_34705del	NW_009646202.1:g.34705del	NW_009646202.1:g.34705dup	NW_009646202.1:g.34704_34705dup
KAT6B transcript variant 2	NM_001256468.1:c.-329+3232=	NM_001256468.1:c.-329+3243_-329+3244del	NM_001256468.1:c.-329+3244del	NM_001256468.1:c.-329+3244dup	NM_001256468.1:c.-329+3243_-329+3244dup
KAT6B transcript variant 2	NM_001256468.2:c.-329+3232=	NM_001256468.2:c.-329+3243_-329+3244del	NM_001256468.2:c.-329+3244del	NM_001256468.2:c.-329+3244dup	NM_001256468.2:c.-329+3243_-329+3244dup
KAT6B transcript variant 3	NM_001256469.1:c.-329+3232=	NM_001256469.1:c.-329+3243_-329+3244del	NM_001256469.1:c.-329+3244del	NM_001256469.1:c.-329+3244dup	NM_001256469.1:c.-329+3243_-329+3244dup
KAT6B transcript variant 3	NM_001256469.2:c.-329+3232=	NM_001256469.2:c.-329+3243_-329+3244del	NM_001256469.2:c.-329+3244del	NM_001256469.2:c.-329+3244dup	NM_001256469.2:c.-329+3243_-329+3244dup
KAT6B transcript variant 4	NM_001370132.1:c.-329+3232=	NM_001370132.1:c.-329+3243_-329+3244del	NM_001370132.1:c.-329+3244del	NM_001370132.1:c.-329+3244dup	NM_001370132.1:c.-329+3243_-329+3244dup
KAT6B transcript variant 5	NM_001370133.1:c.-329+4343=	NM_001370133.1:c.-329+4354_-329+4355del	NM_001370133.1:c.-329+4355del	NM_001370133.1:c.-329+4355dup	NM_001370133.1:c.-329+4354_-329+4355dup
KAT6B transcript variant 6	NM_001370134.1:c.-867+4343=	NM_001370134.1:c.-867+4354_-867+4355del	NM_001370134.1:c.-867+4355del	NM_001370134.1:c.-867+4355dup	NM_001370134.1:c.-867+4354_-867+4355dup
KAT6B transcript variant 7	NM_001370135.1:c.-867+3232=	NM_001370135.1:c.-867+3243_-867+3244del	NM_001370135.1:c.-867+3244del	NM_001370135.1:c.-867+3244dup	NM_001370135.1:c.-867+3243_-867+3244dup
KAT6B transcript variant 8	NM_001370136.1:c.-329+4343=	NM_001370136.1:c.-329+4354_-329+4355del	NM_001370136.1:c.-329+4355del	NM_001370136.1:c.-329+4355dup	NM_001370136.1:c.-329+4354_-329+4355dup
KAT6B transcript variant 9	NM_001370137.1:c.-360+3232=	NM_001370137.1:c.-360+3243_-360+3244del	NM_001370137.1:c.-360+3244del	NM_001370137.1:c.-360+3244dup	NM_001370137.1:c.-360+3243_-360+3244dup
KAT6B transcript variant 10	NM_001370138.1:c.-329+4343=	NM_001370138.1:c.-329+4354_-329+4355del	NM_001370138.1:c.-329+4355del	NM_001370138.1:c.-329+4355dup	NM_001370138.1:c.-329+4354_-329+4355dup
KAT6B transcript variant 11	NM_001370139.1:c.-360+4661=	NM_001370139.1:c.-360+4672_-360+4673del	NM_001370139.1:c.-360+4673del	NM_001370139.1:c.-360+4673dup	NM_001370139.1:c.-360+4672_-360+4673dup
KAT6B transcript variant 12	NM_001370140.1:c.-329+4343=	NM_001370140.1:c.-329+4354_-329+4355del	NM_001370140.1:c.-329+4355del	NM_001370140.1:c.-329+4355dup	NM_001370140.1:c.-329+4354_-329+4355dup
KAT6B transcript variant 13	NM_001370141.1:c.-259+4343=	NM_001370141.1:c.-259+4354_-259+4355del	NM_001370141.1:c.-259+4355del	NM_001370141.1:c.-259+4355dup	NM_001370141.1:c.-259+4354_-259+4355dup
KAT6B transcript variant 14	NM_001370142.1:c.-259+3232=	NM_001370142.1:c.-259+3243_-259+3244del	NM_001370142.1:c.-259+3244del	NM_001370142.1:c.-259+3244dup	NM_001370142.1:c.-259+3243_-259+3244dup
KAT6B transcript variant 15	NM_001370143.1:c.-259+4343=	NM_001370143.1:c.-259+4354_-259+4355del	NM_001370143.1:c.-259+4355del	NM_001370143.1:c.-259+4355dup	NM_001370143.1:c.-259+4354_-259+4355dup
KAT6B transcript variant 16	NM_001370144.1:c.-329+3232=	NM_001370144.1:c.-329+3243_-329+3244del	NM_001370144.1:c.-329+3244del	NM_001370144.1:c.-329+3244dup	NM_001370144.1:c.-329+3243_-329+3244dup
KAT6B transcript variant 1	NM_012330.3:c.-329+3232=	NM_012330.3:c.-329+3243_-329+3244del	NM_012330.3:c.-329+3244del	NM_012330.3:c.-329+3244dup	NM_012330.3:c.-329+3243_-329+3244dup
KAT6B transcript variant 1	NM_012330.4:c.-329+3232=	NM_012330.4:c.-329+3243_-329+3244del	NM_012330.4:c.-329+3244del	NM_012330.4:c.-329+3244dup	NM_012330.4:c.-329+3243_-329+3244dup
KAT6B transcript variant X1	XM_005269664.1:c.-329+4657=	XM_005269664.1:c.-329+4668_-329+4669del	XM_005269664.1:c.-329+4669del	XM_005269664.1:c.-329+4669dup	XM_005269664.1:c.-329+4668_-329+4669dup
KAT6B transcript variant X1	XM_005269664.3:c.-329+4657=	XM_005269664.3:c.-329+4668_-329+4669del	XM_005269664.3:c.-329+4669del	XM_005269664.3:c.-329+4669dup	XM_005269664.3:c.-329+4668_-329+4669dup
KAT6B transcript variant X4	XM_017016004.3:c.-329+4343=	XM_017016004.3:c.-329+4354_-329+4355del	XM_017016004.3:c.-329+4355del	XM_017016004.3:c.-329+4355dup	XM_017016004.3:c.-329+4354_-329+4355dup
KAT6B transcript variant X2	XM_047424911.1:c.-360+4343=	XM_047424911.1:c.-360+4354_-360+4355del	XM_047424911.1:c.-360+4355del	XM_047424911.1:c.-360+4355dup	XM_047424911.1:c.-360+4354_-360+4355dup
KAT6B transcript variant X3	XM_047424912.1:c.-360+4657=	XM_047424912.1:c.-360+4668_-360+4669del	XM_047424912.1:c.-360+4669del	XM_047424912.1:c.-360+4669dup	XM_047424912.1:c.-360+4668_-360+4669dup
KAT6B transcript variant X5	XM_047424913.1:c.-329+4657=	XM_047424913.1:c.-329+4668_-329+4669del	XM_047424913.1:c.-329+4669del	XM_047424913.1:c.-329+4669dup	XM_047424913.1:c.-329+4668_-329+4669dup
KAT6B transcript variant X6	XM_047424915.1:c.-329+3232=	XM_047424915.1:c.-329+3243_-329+3244del	XM_047424915.1:c.-329+3244del	XM_047424915.1:c.-329+3244dup	XM_047424915.1:c.-329+3243_-329+3244dup
KAT6B transcript variant X7	XM_047424916.1:c.-329+4657=	XM_047424916.1:c.-329+4668_-329+4669del	XM_047424916.1:c.-329+4669del	XM_047424916.1:c.-329+4669dup	XM_047424916.1:c.-329+4668_-329+4669dup
KAT6B transcript variant X8	XM_047424917.1:c.-360+3232=	XM_047424917.1:c.-360+3243_-360+3244del	XM_047424917.1:c.-360+3244del	XM_047424917.1:c.-360+3244dup	XM_047424917.1:c.-360+3243_-360+3244dup
KAT6B transcript variant X9	XM_047424918.1:c.-360+4343=	XM_047424918.1:c.-360+4354_-360+4355del	XM_047424918.1:c.-360+4355del	XM_047424918.1:c.-360+4355dup	XM_047424918.1:c.-360+4354_-360+4355dup
KAT6B transcript variant X10	XM_047424919.1:c.-360+4657=	XM_047424919.1:c.-360+4668_-360+4669del	XM_047424919.1:c.-360+4669del	XM_047424919.1:c.-360+4669dup	XM_047424919.1:c.-360+4668_-360+4669dup
KAT6B transcript variant X11	XM_047424920.1:c.-329+4343=	XM_047424920.1:c.-329+4354_-329+4355del	XM_047424920.1:c.-329+4355del	XM_047424920.1:c.-329+4355dup	XM_047424920.1:c.-329+4354_-329+4355dup
KAT6B transcript variant X12	XM_047424921.1:c.-329+3232=	XM_047424921.1:c.-329+3243_-329+3244del	XM_047424921.1:c.-329+3244del	XM_047424921.1:c.-329+3244dup	XM_047424921.1:c.-329+3243_-329+3244dup
KAT6B transcript variant X13	XM_047424922.1:c.-360+4343=	XM_047424922.1:c.-360+4354_-360+4355del	XM_047424922.1:c.-360+4355del	XM_047424922.1:c.-360+4355dup	XM_047424922.1:c.-360+4354_-360+4355dup
KAT6B transcript variant X14	XM_047424923.1:c.-329+4657=	XM_047424923.1:c.-329+4668_-329+4669del	XM_047424923.1:c.-329+4669del	XM_047424923.1:c.-329+4669dup	XM_047424923.1:c.-329+4668_-329+4669dup
KAT6B transcript variant X15	XM_047424924.1:c.-360+4343=	XM_047424924.1:c.-360+4354_-360+4355del	XM_047424924.1:c.-360+4355del	XM_047424924.1:c.-360+4355dup	XM_047424924.1:c.-360+4354_-360+4355dup
KAT6B transcript variant X16	XM_047424926.1:c.-360+3232=	XM_047424926.1:c.-360+3243_-360+3244del	XM_047424926.1:c.-360+3244del	XM_047424926.1:c.-360+3244dup	XM_047424926.1:c.-360+3243_-360+3244dup
KAT6B transcript variant X17	XM_047424927.1:c.-360+4657=	XM_047424927.1:c.-360+4668_-360+4669del	XM_047424927.1:c.-360+4669del	XM_047424927.1:c.-360+4669dup	XM_047424927.1:c.-360+4668_-360+4669dup
KAT6B transcript variant X18	XM_047424928.1:c.-329+4343=	XM_047424928.1:c.-329+4354_-329+4355del	XM_047424928.1:c.-329+4355del	XM_047424928.1:c.-329+4355dup	XM_047424928.1:c.-329+4354_-329+4355dup
KAT6B transcript variant X19	XM_047424929.1:c.-329+4657=	XM_047424929.1:c.-329+4668_-329+4669del	XM_047424929.1:c.-329+4669del	XM_047424929.1:c.-329+4669dup	XM_047424929.1:c.-329+4668_-329+4669dup

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#.

21 SubSNP, 10 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81949591	Oct 12, 2018 (152)
2	EVA_DECODE	ss3690190707	Jul 13, 2019 (153)
3	EVA_DECODE	ss3690190708	Jul 13, 2019 (153)
4	EVA_DECODE	ss3690190709	Jul 13, 2019 (153)
5	ACPOP	ss3737462495	Jul 13, 2019 (153)
6	PACBIO	ss3796775144	Jul 13, 2019 (153)
7	EVA	ss3832206666	Apr 26, 2020 (154)
8	GNOMAD	ss4221240974	Apr 26, 2021 (155)
9	GNOMAD	ss4221240975	Apr 26, 2021 (155)
10	GNOMAD	ss4221240976	Apr 26, 2021 (155)
11	TOMMO_GENOMICS	ss5198342441	Apr 26, 2021 (155)
12	TOMMO_GENOMICS	ss5198342442	Apr 26, 2021 (155)
13	1000G_HIGH_COVERAGE	ss5284603199	Oct 16, 2022 (156)
14	1000G_HIGH_COVERAGE	ss5284603200	Oct 16, 2022 (156)
15	1000G_HIGH_COVERAGE	ss5284603201	Oct 16, 2022 (156)
16	HUGCELL_USP	ss5480122999	Oct 16, 2022 (156)
17	HUGCELL_USP	ss5480123000	Oct 16, 2022 (156)
18	HUGCELL_USP	ss5480123001	Oct 16, 2022 (156)
19	TOMMO_GENOMICS	ss5744381349	Oct 16, 2022 (156)
20	TOMMO_GENOMICS	ss5744381350	Oct 16, 2022 (156)
21	EVA	ss5849636641	Oct 16, 2022 (156)
22	gnomAD - Genomes Submission ignored due to conflicting rows: Row 356730375 (NC_000010.11:74830016::A 13520/75544) Row 356730376 (NC_000010.11:74830016::AA 17/75942) Row 356730377 (NC_000010.11:74830016:A: 9153/75878)...	-	Apr 26, 2021 (155)
23	gnomAD - Genomes Submission ignored due to conflicting rows: Row 356730375 (NC_000010.11:74830016::A 13520/75544) Row 356730376 (NC_000010.11:74830016::AA 17/75942) Row 356730377 (NC_000010.11:74830016:A: 9153/75878)...	-	Apr 26, 2021 (155)
24	gnomAD - Genomes Submission ignored due to conflicting rows: Row 356730375 (NC_000010.11:74830016::A 13520/75544) Row 356730376 (NC_000010.11:74830016::AA 17/75942) Row 356730377 (NC_000010.11:74830016:A: 9153/75878)...	-	Apr 26, 2021 (155)
25	gnomAD - Genomes Submission ignored due to conflicting rows: Row 356730375 (NC_000010.11:74830016::A 13520/75544) Row 356730376 (NC_000010.11:74830016::AA 17/75942) Row 356730377 (NC_000010.11:74830016:A: 9153/75878)...	-	Apr 26, 2021 (155)
26	Northern Sweden	NC_000010.10 - 76589775	Jul 13, 2019 (153)
27	8.3KJPN Submission ignored due to conflicting rows: Row 56311748 (NC_000010.10:76589774::A 855/16736) Row 56311749 (NC_000010.10:76589774:A: 1579/16736)	-	Apr 26, 2021 (155)
28	8.3KJPN Submission ignored due to conflicting rows: Row 56311748 (NC_000010.10:76589774::A 855/16736) Row 56311749 (NC_000010.10:76589774:A: 1579/16736)	-	Apr 26, 2021 (155)
29	14KJPN Submission ignored due to conflicting rows: Row 78218453 (NC_000010.11:74830016::A 1436/28254) Row 78218454 (NC_000010.11:74830016:A: 2625/28254)	-	Oct 16, 2022 (156)
30	14KJPN Submission ignored due to conflicting rows: Row 78218453 (NC_000010.11:74830016::A 1436/28254) Row 78218454 (NC_000010.11:74830016:A: 2625/28254)	-	Oct 16, 2022 (156)
31	ALFA	NC_000010.11 - 74830017	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
ss3690190709, ss4221240976, ss5284603201, ss5480123001	NC_000010.11:74830016:AA:	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAA	(self)
3678373909	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAA	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAA	(self)
10747360, ss3737462495, ss3796775144, ss3832206666, ss5198342442	NC_000010.10:76589774:A:	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss5284603199, ss5480122999, ss5744381350, ss5849636641	NC_000010.11:74830016:A:	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
3678373909	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3690190708	NC_000010.11:74830017:A:	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss5198342441	NC_000010.10:76589774::A	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4221240974, ss5284603200, ss5480123000, ss5744381349	NC_000010.11:74830016::A	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3678373909	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3690190707	NC_000010.11:74830018::A	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss81949591	NT_030059.13:27394251::A	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4221240975	NC_000010.11:74830016::AA	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3678373909	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000010.11:74830016:AAAAAAAAAAAA… NC_000010.11:74830016:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(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 rs1313427628

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

rs1313427628