Name: rs56158505
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.

rs56158505

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chrX:46505769-46505795 (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(AC)₆ / del(AC)₅ / del(AC)₄ / d…
del(AC)₆ / del(AC)₅ / del(AC)₄ / del(AC)₃ / delACAC / delAC / dupAC / dupACAC / dup(AC)₃ / dup(AC)₄ / dup(AC)₅ / dup(AC)₆ / dup(AC)₇ / dup(AC)₈ / dup(AC)₉ / dup(AC)₁₀ / dup(AC)₁₁ / dup(AC)₁₂
Variation Type: Indel Insertion and Deletion
Frequency: del(AC)₅=0.000042 (11/264690, TOPMED)
dup(AC)₅=0.06710 (784/11684, ALFA)
delAC=0.0098 (37/3775, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ZNF674 : 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	11684	CACACACACACACACACACACACACAC=0.91869	CACACACACACACAC=0.00000, CACACACACACACACAC=0.00000, CACACACACACACACACAC=0.00000, CACACACACACACACACACAC=0.00000, CACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACAC=0.00103, CACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACACAC=0.00128, CACACACACACACACACACACACACACACACACACAC=0.06710, CACACACACACACACACACACACACACACACACACACACACAC=0.00402, CACACACACACACACACACACACACACACACACACACAC=0.00633, CACACACACACACACACACACACACACACACACACACACAC=0.00154, CACACACACACACACACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00000	0.904829	0.038838	0.056333	32
European	Sub	8954	CACACACACACACACACACACACACAC=0.8943	CACACACACACACAC=0.0000, CACACACACACACACAC=0.0000, CACACACACACACACACAC=0.0000, CACACACACACACACACACAC=0.0000, CACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACAC=0.0013, CACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACAC=0.0017, CACACACACACACACACACACACACACACACACACAC=0.0871, CACACACACACACACACACACACACACACACACACACACACAC=0.0052, CACACACACACACACACACACACACACACACACACACAC=0.0083, CACACACACACACACACACACACACACACACACACACACAC=0.0020, CACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000	0.875431	0.050563	0.074006	32
African	Sub	1820	CACACACACACACACACACACACACAC=1.0000	CACACACACACACAC=0.0000, CACACACACACACACAC=0.0000, CACACACACACACACACAC=0.0000, CACACACACACACACACACAC=0.0000, CACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	74	CACACACACACACACACACACACACAC=1.00	CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
African American	Sub	1746	CACACACACACACACACACACACACAC=1.0000	CACACACACACACAC=0.0000, CACACACACACACACAC=0.0000, CACACACACACACACACAC=0.0000, CACACACACACACACACACAC=0.0000, CACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	74	CACACACACACACACACACACACACAC=1.00	CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	62	CACACACACACACACACACACACACAC=1.00	CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	12	CACACACACACACACACACACACACAC=1.00	CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	70	CACACACACACACACACACACACACAC=1.00	CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	398	CACACACACACACACACACACACACAC=1.000	CACACACACACACAC=0.000, CACACACACACACACAC=0.000, CACACACACACACACACAC=0.000, CACACACACACACACACACAC=0.000, CACACACACACACACACACACAC=0.000, CACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	68	CACACACACACACACACACACACACAC=1.00	CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Other	Sub	300	CACACACACACACACACACACACACAC=0.987	CACACACACACACAC=0.000, CACACACACACACACAC=0.000, CACACACACACACACACAC=0.000, CACACACACACACACACACAC=0.000, CACACACACACACACACACACAC=0.000, CACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACAC=0.013, CACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.000	0.986667	0.013333	0.0	32

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	(CA)₁₃C=0.999958	del(AC)₅=0.000042
Allele Frequency Aggregator	Total	Global	11684	(CA)₁₃C=0.91869	del(AC)₆=0.00000, del(AC)₅=0.00000, del(AC)₄=0.00000, del(AC)₃=0.00000, delACAC=0.00000, delAC=0.00000, dupAC=0.00103, dupACAC=0.00000, dup(AC)₃=0.00000, dup(AC)₄=0.00128, dup(AC)₅=0.06710, dup(AC)₆=0.00633, dup(AC)₇=0.00154, dup(AC)₈=0.00402, dup(AC)₉=0.00000, dup(AC)₁₀=0.00000, dup(AC)₁₁=0.00000, dup(AC)₁₂=0.00000
Allele Frequency Aggregator	European	Sub	8954	(CA)₁₃C=0.8943	del(AC)₆=0.0000, del(AC)₅=0.0000, del(AC)₄=0.0000, del(AC)₃=0.0000, delACAC=0.0000, delAC=0.0000, dupAC=0.0013, dupACAC=0.0000, dup(AC)₃=0.0000, dup(AC)₄=0.0017, dup(AC)₅=0.0871, dup(AC)₆=0.0083, dup(AC)₇=0.0020, dup(AC)₈=0.0052, dup(AC)₉=0.0000, dup(AC)₁₀=0.0000, dup(AC)₁₁=0.0000, dup(AC)₁₂=0.0000
Allele Frequency Aggregator	African	Sub	1820	(CA)₁₃C=1.0000	del(AC)₆=0.0000, del(AC)₅=0.0000, del(AC)₄=0.0000, del(AC)₃=0.0000, delACAC=0.0000, delAC=0.0000, dupAC=0.0000, dupACAC=0.0000, dup(AC)₃=0.0000, dup(AC)₄=0.0000, dup(AC)₅=0.0000, dup(AC)₆=0.0000, dup(AC)₇=0.0000, dup(AC)₈=0.0000, dup(AC)₉=0.0000, dup(AC)₁₀=0.0000, dup(AC)₁₁=0.0000, dup(AC)₁₂=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	398	(CA)₁₃C=1.000	del(AC)₆=0.000, del(AC)₅=0.000, del(AC)₄=0.000, del(AC)₃=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)₃=0.000, dup(AC)₄=0.000, dup(AC)₅=0.000, dup(AC)₆=0.000, dup(AC)₇=0.000, dup(AC)₈=0.000, dup(AC)₉=0.000, dup(AC)₁₀=0.000, dup(AC)₁₁=0.000, dup(AC)₁₂=0.000
Allele Frequency Aggregator	Other	Sub	300	(CA)₁₃C=0.987	del(AC)₆=0.000, del(AC)₅=0.000, del(AC)₄=0.000, del(AC)₃=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)₃=0.000, dup(AC)₄=0.000, dup(AC)₅=0.013, dup(AC)₆=0.000, dup(AC)₇=0.000, dup(AC)₈=0.000, dup(AC)₉=0.000, dup(AC)₁₀=0.000, dup(AC)₁₁=0.000, dup(AC)₁₂=0.000
Allele Frequency Aggregator	Asian	Sub	74	(CA)₁₃C=1.00	del(AC)₆=0.00, del(AC)₅=0.00, del(AC)₄=0.00, del(AC)₃=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00, dup(AC)₅=0.00, dup(AC)₆=0.00, dup(AC)₇=0.00, dup(AC)₈=0.00, dup(AC)₉=0.00, dup(AC)₁₀=0.00, dup(AC)₁₁=0.00, dup(AC)₁₂=0.00
Allele Frequency Aggregator	Latin American 1	Sub	70	(CA)₁₃C=1.00	del(AC)₆=0.00, del(AC)₅=0.00, del(AC)₄=0.00, del(AC)₃=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00, dup(AC)₅=0.00, dup(AC)₆=0.00, dup(AC)₇=0.00, dup(AC)₈=0.00, dup(AC)₉=0.00, dup(AC)₁₀=0.00, dup(AC)₁₁=0.00, dup(AC)₁₂=0.00
Allele Frequency Aggregator	South Asian	Sub	68	(CA)₁₃C=1.00	del(AC)₆=0.00, del(AC)₅=0.00, del(AC)₄=0.00, del(AC)₃=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00, dup(AC)₅=0.00, dup(AC)₆=0.00, dup(AC)₇=0.00, dup(AC)₈=0.00, dup(AC)₉=0.00, dup(AC)₁₀=0.00, dup(AC)₁₁=0.00, dup(AC)₁₂=0.00
1000Genomes	Global	Study-wide	3775	(CA)₁₃C=0.9902	delAC=0.0098
1000Genomes	African	Sub	1003	(CA)₁₃C=0.9910	delAC=0.0090
1000Genomes	Europe	Sub	766	(CA)₁₃C=0.990	delAC=0.010
1000Genomes	East Asian	Sub	764	(CA)₁₃C=0.993	delAC=0.007
1000Genomes	South Asian	Sub	718	(CA)₁₃C=0.982	delAC=0.018
1000Genomes	American	Sub	524	(CA)₁₃C=0.996	delAC=0.004

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 X	NC_000023.11:g.46505770AC[7]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[8]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[9]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[10]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[11]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[12]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[14]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[15]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[16]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[17]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[18]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[19]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[20]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[21]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[22]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[23]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[24]
GRCh38.p14 chr X	NC_000023.11:g.46505770AC[25]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[7]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[8]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[9]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[10]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[11]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[12]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[14]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[15]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[16]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[17]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[18]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[19]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[20]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[21]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[22]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[23]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[24]
GRCh37.p13 chr X	NC_000023.10:g.46365205AC[25]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[7]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[8]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[9]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[10]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[11]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[12]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[14]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[15]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[16]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[17]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[18]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[19]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[20]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[21]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[22]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[23]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[24]
ZNF674 RefSeqGene	NG_023376.2:g.44664TG[25]

Gene: ZNF674, zinc finger protein 674 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF674 transcript variant 1	NM_001039891.3:c.254-4459… NM_001039891.3:c.254-4459TG[7]	N/A	Intron Variant
ZNF674 transcript variant 2	NM_001146291.2:c.239-4462… NM_001146291.2:c.239-4462TG[7]	N/A	Intron Variant
ZNF674 transcript variant 3	NM_001190417.2:c.239-4459… NM_001190417.2:c.239-4459TG[7]	N/A	Intron Variant
ZNF674 transcript variant X1	XM_011543943.4:c.254-4462… XM_011543943.4:c.254-4462TG[7]	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	(CA)₁₃C=	del(AC)₆	del(AC)₅	del(AC)₄	del(AC)₃	delACAC	delAC	dupAC	dupACAC	dup(AC)₃	dup(AC)₄	dup(AC)₅	dup(AC)₆	dup(AC)₇	dup(AC)₈	dup(AC)₉	dup(AC)₁₀	dup(AC)₁₁	dup(AC)₁₂
GRCh38.p14 chr X	NC_000023.11:g.46505769_46505795=	NC_000023.11:g.46505770AC[7]	NC_000023.11:g.46505770AC[8]	NC_000023.11:g.46505770AC[9]	NC_000023.11:g.46505770AC[10]	NC_000023.11:g.46505770AC[11]	NC_000023.11:g.46505770AC[12]	NC_000023.11:g.46505770AC[14]	NC_000023.11:g.46505770AC[15]	NC_000023.11:g.46505770AC[16]	NC_000023.11:g.46505770AC[17]	NC_000023.11:g.46505770AC[18]	NC_000023.11:g.46505770AC[19]	NC_000023.11:g.46505770AC[20]	NC_000023.11:g.46505770AC[21]	NC_000023.11:g.46505770AC[22]	NC_000023.11:g.46505770AC[23]	NC_000023.11:g.46505770AC[24]	NC_000023.11:g.46505770AC[25]
GRCh37.p13 chr X	NC_000023.10:g.46365204_46365230=	NC_000023.10:g.46365205AC[7]	NC_000023.10:g.46365205AC[8]	NC_000023.10:g.46365205AC[9]	NC_000023.10:g.46365205AC[10]	NC_000023.10:g.46365205AC[11]	NC_000023.10:g.46365205AC[12]	NC_000023.10:g.46365205AC[14]	NC_000023.10:g.46365205AC[15]	NC_000023.10:g.46365205AC[16]	NC_000023.10:g.46365205AC[17]	NC_000023.10:g.46365205AC[18]	NC_000023.10:g.46365205AC[19]	NC_000023.10:g.46365205AC[20]	NC_000023.10:g.46365205AC[21]	NC_000023.10:g.46365205AC[22]	NC_000023.10:g.46365205AC[23]	NC_000023.10:g.46365205AC[24]	NC_000023.10:g.46365205AC[25]
ZNF674 RefSeqGene	NG_023376.2:g.44663_44689=	NG_023376.2:g.44664TG[7]	NG_023376.2:g.44664TG[8]	NG_023376.2:g.44664TG[9]	NG_023376.2:g.44664TG[10]	NG_023376.2:g.44664TG[11]	NG_023376.2:g.44664TG[12]	NG_023376.2:g.44664TG[14]	NG_023376.2:g.44664TG[15]	NG_023376.2:g.44664TG[16]	NG_023376.2:g.44664TG[17]	NG_023376.2:g.44664TG[18]	NG_023376.2:g.44664TG[19]	NG_023376.2:g.44664TG[20]	NG_023376.2:g.44664TG[21]	NG_023376.2:g.44664TG[22]	NG_023376.2:g.44664TG[23]	NG_023376.2:g.44664TG[24]	NG_023376.2:g.44664TG[25]
ZNF674 transcript variant 1	NM_001039891.2:c.254-4434=	NM_001039891.2:c.254-4459TG[7]	NM_001039891.2:c.254-4459TG[8]	NM_001039891.2:c.254-4459TG[9]	NM_001039891.2:c.254-4459TG[10]	NM_001039891.2:c.254-4459TG[11]	NM_001039891.2:c.254-4459TG[12]	NM_001039891.2:c.254-4459TG[14]	NM_001039891.2:c.254-4459TG[15]	NM_001039891.2:c.254-4459TG[16]	NM_001039891.2:c.254-4459TG[17]	NM_001039891.2:c.254-4459TG[18]	NM_001039891.2:c.254-4459TG[19]	NM_001039891.2:c.254-4459TG[20]	NM_001039891.2:c.254-4459TG[21]	NM_001039891.2:c.254-4459TG[22]	NM_001039891.2:c.254-4459TG[23]	NM_001039891.2:c.254-4459TG[24]	NM_001039891.2:c.254-4459TG[25]
ZNF674 transcript variant 1	NM_001039891.3:c.254-4434=	NM_001039891.3:c.254-4459TG[7]	NM_001039891.3:c.254-4459TG[8]	NM_001039891.3:c.254-4459TG[9]	NM_001039891.3:c.254-4459TG[10]	NM_001039891.3:c.254-4459TG[11]	NM_001039891.3:c.254-4459TG[12]	NM_001039891.3:c.254-4459TG[14]	NM_001039891.3:c.254-4459TG[15]	NM_001039891.3:c.254-4459TG[16]	NM_001039891.3:c.254-4459TG[17]	NM_001039891.3:c.254-4459TG[18]	NM_001039891.3:c.254-4459TG[19]	NM_001039891.3:c.254-4459TG[20]	NM_001039891.3:c.254-4459TG[21]	NM_001039891.3:c.254-4459TG[22]	NM_001039891.3:c.254-4459TG[23]	NM_001039891.3:c.254-4459TG[24]	NM_001039891.3:c.254-4459TG[25]
ZNF674 transcript variant 2	NM_001146291.1:c.239-4437=	NM_001146291.1:c.239-4462TG[7]	NM_001146291.1:c.239-4462TG[8]	NM_001146291.1:c.239-4462TG[9]	NM_001146291.1:c.239-4462TG[10]	NM_001146291.1:c.239-4462TG[11]	NM_001146291.1:c.239-4462TG[12]	NM_001146291.1:c.239-4462TG[14]	NM_001146291.1:c.239-4462TG[15]	NM_001146291.1:c.239-4462TG[16]	NM_001146291.1:c.239-4462TG[17]	NM_001146291.1:c.239-4462TG[18]	NM_001146291.1:c.239-4462TG[19]	NM_001146291.1:c.239-4462TG[20]	NM_001146291.1:c.239-4462TG[21]	NM_001146291.1:c.239-4462TG[22]	NM_001146291.1:c.239-4462TG[23]	NM_001146291.1:c.239-4462TG[24]	NM_001146291.1:c.239-4462TG[25]
ZNF674 transcript variant 2	NM_001146291.2:c.239-4437=	NM_001146291.2:c.239-4462TG[7]	NM_001146291.2:c.239-4462TG[8]	NM_001146291.2:c.239-4462TG[9]	NM_001146291.2:c.239-4462TG[10]	NM_001146291.2:c.239-4462TG[11]	NM_001146291.2:c.239-4462TG[12]	NM_001146291.2:c.239-4462TG[14]	NM_001146291.2:c.239-4462TG[15]	NM_001146291.2:c.239-4462TG[16]	NM_001146291.2:c.239-4462TG[17]	NM_001146291.2:c.239-4462TG[18]	NM_001146291.2:c.239-4462TG[19]	NM_001146291.2:c.239-4462TG[20]	NM_001146291.2:c.239-4462TG[21]	NM_001146291.2:c.239-4462TG[22]	NM_001146291.2:c.239-4462TG[23]	NM_001146291.2:c.239-4462TG[24]	NM_001146291.2:c.239-4462TG[25]
ZNF674 transcript variant 3	NM_001190417.1:c.239-4434=	NM_001190417.1:c.239-4459TG[7]	NM_001190417.1:c.239-4459TG[8]	NM_001190417.1:c.239-4459TG[9]	NM_001190417.1:c.239-4459TG[10]	NM_001190417.1:c.239-4459TG[11]	NM_001190417.1:c.239-4459TG[12]	NM_001190417.1:c.239-4459TG[14]	NM_001190417.1:c.239-4459TG[15]	NM_001190417.1:c.239-4459TG[16]	NM_001190417.1:c.239-4459TG[17]	NM_001190417.1:c.239-4459TG[18]	NM_001190417.1:c.239-4459TG[19]	NM_001190417.1:c.239-4459TG[20]	NM_001190417.1:c.239-4459TG[21]	NM_001190417.1:c.239-4459TG[22]	NM_001190417.1:c.239-4459TG[23]	NM_001190417.1:c.239-4459TG[24]	NM_001190417.1:c.239-4459TG[25]
ZNF674 transcript variant 3	NM_001190417.2:c.239-4434=	NM_001190417.2:c.239-4459TG[7]	NM_001190417.2:c.239-4459TG[8]	NM_001190417.2:c.239-4459TG[9]	NM_001190417.2:c.239-4459TG[10]	NM_001190417.2:c.239-4459TG[11]	NM_001190417.2:c.239-4459TG[12]	NM_001190417.2:c.239-4459TG[14]	NM_001190417.2:c.239-4459TG[15]	NM_001190417.2:c.239-4459TG[16]	NM_001190417.2:c.239-4459TG[17]	NM_001190417.2:c.239-4459TG[18]	NM_001190417.2:c.239-4459TG[19]	NM_001190417.2:c.239-4459TG[20]	NM_001190417.2:c.239-4459TG[21]	NM_001190417.2:c.239-4459TG[22]	NM_001190417.2:c.239-4459TG[23]	NM_001190417.2:c.239-4459TG[24]	NM_001190417.2:c.239-4459TG[25]
ZNF674 transcript variant X1	XM_011543943.4:c.254-4437=	XM_011543943.4:c.254-4462TG[7]	XM_011543943.4:c.254-4462TG[8]	XM_011543943.4:c.254-4462TG[9]	XM_011543943.4:c.254-4462TG[10]	XM_011543943.4:c.254-4462TG[11]	XM_011543943.4:c.254-4462TG[12]	XM_011543943.4:c.254-4462TG[14]	XM_011543943.4:c.254-4462TG[15]	XM_011543943.4:c.254-4462TG[16]	XM_011543943.4:c.254-4462TG[17]	XM_011543943.4:c.254-4462TG[18]	XM_011543943.4:c.254-4462TG[19]	XM_011543943.4:c.254-4462TG[20]	XM_011543943.4:c.254-4462TG[21]	XM_011543943.4:c.254-4462TG[22]	XM_011543943.4:c.254-4462TG[23]	XM_011543943.4:c.254-4462TG[24]	XM_011543943.4:c.254-4462TG[25]

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#.

62 SubSNP, 36 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77911339	Dec 07, 2007 (129)
2	HGSV	ss77915165	Dec 07, 2007 (129)
3	HGSV	ss77931874	Dec 07, 2007 (129)
4	BILGI_BIOE	ss666778199	Apr 25, 2013 (138)
5	1000GENOMES	ss1554309500	Jan 10, 2018 (151)
6	EVA_UK10K_ALSPAC	ss1709719228	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1709719230	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1709719394	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1709719397	Apr 01, 2015 (144)
10	SWEGEN	ss3019919896	Nov 08, 2017 (151)
11	SWEGEN	ss3019919897	Nov 08, 2017 (151)
12	SWEGEN	ss3019919898	Nov 08, 2017 (151)
13	SWEGEN	ss3019919899	Nov 08, 2017 (151)
14	SWEGEN	ss3019919900	Nov 08, 2017 (151)
15	SWEGEN	ss3019919901	Nov 08, 2017 (151)
16	MCHAISSO	ss3065261509	Nov 08, 2017 (151)
17	KHV_HUMAN_GENOMES	ss3822963584	Jul 13, 2019 (153)
18	EVA	ss3836163445	Apr 27, 2020 (154)
19	EVA	ss3841694151	Apr 27, 2020 (154)
20	EVA	ss3847213592	Apr 27, 2020 (154)
21	GNOMAD	ss4370936725	Apr 26, 2021 (155)
22	GNOMAD	ss4370936726	Apr 26, 2021 (155)
23	GNOMAD	ss4370936727	Apr 26, 2021 (155)
24	GNOMAD	ss4370936728	Apr 26, 2021 (155)
25	GNOMAD	ss4370936729	Apr 26, 2021 (155)
26	GNOMAD	ss4370936730	Apr 26, 2021 (155)
27	GNOMAD	ss4370936731	Apr 26, 2021 (155)
28	GNOMAD	ss4370936732	Apr 26, 2021 (155)
29	GNOMAD	ss4370936733	Apr 26, 2021 (155)
30	GNOMAD	ss4370936734	Apr 26, 2021 (155)
31	GNOMAD	ss4370936735	Apr 26, 2021 (155)
32	GNOMAD	ss4370936736	Apr 26, 2021 (155)
33	GNOMAD	ss4370936746	Apr 26, 2021 (155)
34	GNOMAD	ss4370936747	Apr 26, 2021 (155)
35	GNOMAD	ss4370936748	Apr 26, 2021 (155)
36	GNOMAD	ss4370936749	Apr 26, 2021 (155)
37	GNOMAD	ss4370936750	Apr 26, 2021 (155)
38	TOPMED	ss5121830355	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5234328267	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5234328268	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5234328269	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5234328270	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5234328271	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5234328272	Apr 26, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5312443134	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5312443135	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5312443136	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5312443137	Oct 16, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5312443138	Oct 16, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5312443139	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5504123669	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5504123670	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5504123671	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5504123672	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5504123673	Oct 16, 2022 (156)
56	HUGCELL_USP	ss5504123674	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5795993756	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5795993757	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5795993758	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5795993759	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5795993760	Oct 16, 2022 (156)
62	TOMMO_GENOMICS	ss5795993761	Oct 16, 2022 (156)
63	1000Genomes	NC_000023.10 - 46365204	Oct 12, 2018 (152)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 45435849 (NC_000023.10:46365203::CACACACACA 815/2889) Row 45435850 (NC_000023.10:46365203::CACACACA 110/2889)	-	Oct 12, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 45435849 (NC_000023.10:46365203::CACACACACA 815/2889) Row 45435850 (NC_000023.10:46365203::CACACACA 110/2889)	-	Oct 12, 2018 (152)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 579928041 (NC_000023.11:46505768::CA 2025/93027) Row 579928042 (NC_000023.11:46505768::CACA 37/93175) Row 579928043 (NC_000023.11:46505768::CACACA 550/93163)...	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 92297574 (NC_000023.10:46365203::CACACACACACA 965/12828) Row 92297575 (NC_000023.10:46365203::CACACACACACACA 114/12828) Row 92297576 (NC_000023.10:46365203::CA 166/12828)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 92297574 (NC_000023.10:46365203::CACACACACACA 965/12828) Row 92297575 (NC_000023.10:46365203::CACACACACACACA 114/12828) Row 92297576 (NC_000023.10:46365203::CA 166/12828)...	-	Apr 26, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 92297574 (NC_000023.10:46365203::CACACACACACA 965/12828) Row 92297575 (NC_000023.10:46365203::CACACACACACACA 114/12828) Row 92297576 (NC_000023.10:46365203::CA 166/12828)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 92297574 (NC_000023.10:46365203::CACACACACACA 965/12828) Row 92297575 (NC_000023.10:46365203::CACACACACACACA 114/12828) Row 92297576 (NC_000023.10:46365203::CA 166/12828)...	-	Apr 26, 2021 (155)
87	8.3KJPN Submission ignored due to conflicting rows: Row 92297574 (NC_000023.10:46365203::CACACACACACA 965/12828) Row 92297575 (NC_000023.10:46365203::CACACACACACACA 114/12828) Row 92297576 (NC_000023.10:46365203::CA 166/12828)...	-	Apr 26, 2021 (155)
88	8.3KJPN Submission ignored due to conflicting rows: Row 92297574 (NC_000023.10:46365203::CACACACACACA 965/12828) Row 92297575 (NC_000023.10:46365203::CACACACACACACA 114/12828) Row 92297576 (NC_000023.10:46365203::CA 166/12828)...	-	Apr 26, 2021 (155)
89	14KJPN Submission ignored due to conflicting rows: Row 129830860 (NC_000023.11:46505768::CACACACACACA 1432/22143) Row 129830861 (NC_000023.11:46505768::CA 263/22143) Row 129830862 (NC_000023.11:46505768::CACACACACA 59/22143)...	-	Oct 16, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 129830860 (NC_000023.11:46505768::CACACACACACA 1432/22143) Row 129830861 (NC_000023.11:46505768::CA 263/22143) Row 129830862 (NC_000023.11:46505768::CACACACACA 59/22143)...	-	Oct 16, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 129830860 (NC_000023.11:46505768::CACACACACACA 1432/22143) Row 129830861 (NC_000023.11:46505768::CA 263/22143) Row 129830862 (NC_000023.11:46505768::CACACACACA 59/22143)...	-	Oct 16, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 129830860 (NC_000023.11:46505768::CACACACACACA 1432/22143) Row 129830861 (NC_000023.11:46505768::CA 263/22143) Row 129830862 (NC_000023.11:46505768::CACACACACA 59/22143)...	-	Oct 16, 2022 (156)
93	14KJPN Submission ignored due to conflicting rows: Row 129830860 (NC_000023.11:46505768::CACACACACACA 1432/22143) Row 129830861 (NC_000023.11:46505768::CA 263/22143) Row 129830862 (NC_000023.11:46505768::CACACACACA 59/22143)...	-	Oct 16, 2022 (156)
94	14KJPN Submission ignored due to conflicting rows: Row 129830860 (NC_000023.11:46505768::CACACACACACA 1432/22143) Row 129830861 (NC_000023.11:46505768::CA 263/22143) Row 129830862 (NC_000023.11:46505768::CACACACACA 59/22143)...	-	Oct 16, 2022 (156)
95	TopMed	NC_000023.11 - 46505769	Apr 26, 2021 (155)
96	UK 10K study - Twins Submission ignored due to conflicting rows: Row 45435849 (NC_000023.10:46365203::CACACACACA 934/3708) Row 45435850 (NC_000023.10:46365203::CACACACA 159/3708)	-	Oct 12, 2018 (152)
97	UK 10K study - Twins Submission ignored due to conflicting rows: Row 45435849 (NC_000023.10:46365203::CACACACACA 934/3708) Row 45435850 (NC_000023.10:46365203::CACACACA 159/3708)	-	Oct 12, 2018 (152)
98	ALFA	NC_000023.11 - 46505769	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
ss4370936750	NC_000023.11:46505768:CACACACACACA:	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACAC	(self)
685436712, ss4370936749, ss5121830355	NC_000023.11:46505768:CACACACACA:	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACAC	(self)
ss4370936748	NC_000023.11:46505768:CACACA:	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACAC	(self)
ss4370936747	NC_000023.11:46505768:CACA:	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACAC	(self)
82285685, ss1554309500	NC_000023.10:46365203:CA:	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACAC	(self)
ss3822963584, ss4370936746	NC_000023.11:46505768:CA:	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACAC	(self)
ss3019919901, ss5234328269	NC_000023.10:46365203::CA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC	(self)
ss4370936725, ss5312443139, ss5504123672, ss5795993757	NC_000023.11:46505768::CA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC	(self)
ss5234328272	NC_000023.10:46365203::CACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC	(self)
ss4370936726, ss5795993761	NC_000023.11:46505768::CACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC	(self)
ss3019919900	NC_000023.10:46365203::CACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC	(self)
ss4370936727, ss5504123670	NC_000023.11:46505768::CACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC	(self)
ss1709719230, ss1709719397	NC_000023.10:46365203::CACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC	(self)
ss4370936728, ss5312443137, ss5504123671	NC_000023.11:46505768::CACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC	(self)
ss666778199, ss1709719228, ss1709719394, ss3019919896, ss3836163445, ss3841694151, ss5234328270	NC_000023.10:46365203::CACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC	(self)
ss3065261509, ss3847213592, ss4370936729, ss5312443136, ss5504123669, ss5795993758	NC_000023.11:46505768::CACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC	(self)
ss77911339, ss77915165, ss77931874	NT_079573.4:9216974::ACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC	(self)
ss3019919897, ss5234328267	NC_000023.10:46365203::CACACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC	(self)
ss4370936730, ss5312443134, ss5504123673, ss5795993756	NC_000023.11:46505768::CACACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC	(self)
ss3019919899, ss5234328268	NC_000023.10:46365203::CACACACACAC… NC_000023.10:46365203::CACACACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC	(self)
ss4370936731, ss5312443135, ss5795993759	NC_000023.11:46505768::CACACACACAC… NC_000023.11:46505768::CACACACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC	(self)
ss3019919898	NC_000023.10:46365203::CACACACACAC… NC_000023.10:46365203::CACACACACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4370936732, ss5312443138, ss5504123674	NC_000023.11:46505768::CACACACACAC… NC_000023.11:46505768::CACACACACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC	(self)
ss5234328271	NC_000023.10:46365203::CACACACACAC… NC_000023.10:46365203::CACACACACACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4370936733, ss5795993760	NC_000023.11:46505768::CACACACACAC… NC_000023.11:46505768::CACACACACACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4370936734	NC_000023.11:46505768::CACACACACAC… NC_000023.11:46505768::CACACACACACACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4370936735	NC_000023.11:46505768::CACACACACAC… NC_000023.11:46505768::CACACACACACACACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4370936736	NC_000023.11:46505768::CACACACACAC… NC_000023.11:46505768::CACACACACACACACACACACACA	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC	(self)
9890016410	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3610118692	NC_000023.11:46505768:CACACACA:	NC_000023.11:46505768:CACACACACACA… NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACAC

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

No publications for rs56158505

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

rs56158505