Name: rs10573140
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.

rs10573140

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:36821215-36821242 (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)₁₇ / del(A)₁₄ / del(A)₁₃ / d…
del(A)₁₇ / del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₈=0.0664 (256/3854, ALSPAC)
del(A)₁₇=0.00 (0/46, ALFA)
del(A)₁₄=0.00 (0/46, ALFA) (+ 16 more)
del(A)₁₃=0.00 (0/46, ALFA)
del(A)₁₂=0.00 (0/46, ALFA)
del(A)₁₁=0.00 (0/46, ALFA)
del(A)₁₀=0.00 (0/46, ALFA)
del(A)₉=0.00 (0/46, ALFA)
del(A)₈=0.00 (0/46, ALFA)
del(A)₇=0.00 (0/46, ALFA)
del(A)₆=0.00 (0/46, ALFA)
del(A)₅=0.00 (0/46, ALFA)
del(A)₄=0.00 (0/46, ALFA)
delAAA=0.00 (0/46, ALFA)
delAA=0.00 (0/46, ALFA)
delA=0.00 (0/46, ALFA)
dupA=0.00 (0/46, ALFA)
dupAA=0.00 (0/46, ALFA)
dupAAA=0.00 (0/46, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RFXAP : 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	46	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
European	Sub	38	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₂₈=0.9336	del(A)₈=0.0664
Allele Frequency Aggregator	Total	Global	46	(A)₂₈=1.00	del(A)₁₇=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	European	Sub	38	(A)₂₈=1.00	del(A)₁₇=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	African	Sub	8	(A)₂₈=1.0	del(A)₁₇=0.0, del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₂₈=0	del(A)₁₇=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₂₈=0	del(A)₁₇=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₈=0	del(A)₁₇=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	Other	Sub	0	(A)₂₈=0	del(A)₁₇=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₈=0	del(A)₁₇=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0

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 13	NC_000013.11:g.36821226_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821229_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821230_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821231_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821232_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821233_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821234_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821235_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821236_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821237_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821238_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821239_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821240_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821241_36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821242del
GRCh38.p14 chr 13	NC_000013.11:g.36821242dup
GRCh38.p14 chr 13	NC_000013.11:g.36821241_36821242dup
GRCh38.p14 chr 13	NC_000013.11:g.36821240_36821242dup
GRCh37.p13 chr 13	NC_000013.10:g.37395363_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395366_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395367_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395368_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395369_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395370_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395371_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395372_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395373_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395374_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395375_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395376_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395377_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395378_37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395379del
GRCh37.p13 chr 13	NC_000013.10:g.37395379dup
GRCh37.p13 chr 13	NC_000013.10:g.37395378_37395379dup
GRCh37.p13 chr 13	NC_000013.10:g.37395377_37395379dup
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7025_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7028_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7029_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7030_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7031_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7032_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7033_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7034_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7035_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7036_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7037_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7038_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7039_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7040_7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7041del
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7041dup
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7040_7041dup
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7039_7041dup

Gene: RFXAP, regulatory factor X associated protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RFXAP transcript	NM_000538.4:c.600+1269_60… NM_000538.4:c.600+1269_600+1285del	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)₂₈=	del(A)₁₇	del(A)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 13	NC_000013.11:g.36821215_36821242=	NC_000013.11:g.36821226_36821242del	NC_000013.11:g.36821229_36821242del	NC_000013.11:g.36821230_36821242del	NC_000013.11:g.36821231_36821242del	NC_000013.11:g.36821232_36821242del	NC_000013.11:g.36821233_36821242del	NC_000013.11:g.36821234_36821242del	NC_000013.11:g.36821235_36821242del	NC_000013.11:g.36821236_36821242del	NC_000013.11:g.36821237_36821242del	NC_000013.11:g.36821238_36821242del	NC_000013.11:g.36821239_36821242del	NC_000013.11:g.36821240_36821242del	NC_000013.11:g.36821241_36821242del	NC_000013.11:g.36821242del	NC_000013.11:g.36821242dup	NC_000013.11:g.36821241_36821242dup	NC_000013.11:g.36821240_36821242dup
GRCh37.p13 chr 13	NC_000013.10:g.37395352_37395379=	NC_000013.10:g.37395363_37395379del	NC_000013.10:g.37395366_37395379del	NC_000013.10:g.37395367_37395379del	NC_000013.10:g.37395368_37395379del	NC_000013.10:g.37395369_37395379del	NC_000013.10:g.37395370_37395379del	NC_000013.10:g.37395371_37395379del	NC_000013.10:g.37395372_37395379del	NC_000013.10:g.37395373_37395379del	NC_000013.10:g.37395374_37395379del	NC_000013.10:g.37395375_37395379del	NC_000013.10:g.37395376_37395379del	NC_000013.10:g.37395377_37395379del	NC_000013.10:g.37395378_37395379del	NC_000013.10:g.37395379del	NC_000013.10:g.37395379dup	NC_000013.10:g.37395378_37395379dup	NC_000013.10:g.37395377_37395379dup
RFXAP RefSeqGene (LRG_103)	NG_007876.1:g.7014_7041=	NG_007876.1:g.7025_7041del	NG_007876.1:g.7028_7041del	NG_007876.1:g.7029_7041del	NG_007876.1:g.7030_7041del	NG_007876.1:g.7031_7041del	NG_007876.1:g.7032_7041del	NG_007876.1:g.7033_7041del	NG_007876.1:g.7034_7041del	NG_007876.1:g.7035_7041del	NG_007876.1:g.7036_7041del	NG_007876.1:g.7037_7041del	NG_007876.1:g.7038_7041del	NG_007876.1:g.7039_7041del	NG_007876.1:g.7040_7041del	NG_007876.1:g.7041del	NG_007876.1:g.7041dup	NG_007876.1:g.7040_7041dup	NG_007876.1:g.7039_7041dup
RFXAP transcript	NM_000538.3:c.600+1258=	NM_000538.3:c.600+1269_600+1285del	NM_000538.3:c.600+1272_600+1285del	NM_000538.3:c.600+1273_600+1285del	NM_000538.3:c.600+1274_600+1285del	NM_000538.3:c.600+1275_600+1285del	NM_000538.3:c.600+1276_600+1285del	NM_000538.3:c.600+1277_600+1285del	NM_000538.3:c.600+1278_600+1285del	NM_000538.3:c.600+1279_600+1285del	NM_000538.3:c.600+1280_600+1285del	NM_000538.3:c.600+1281_600+1285del	NM_000538.3:c.600+1282_600+1285del	NM_000538.3:c.600+1283_600+1285del	NM_000538.3:c.600+1284_600+1285del	NM_000538.3:c.600+1285del	NM_000538.3:c.600+1285dup	NM_000538.3:c.600+1284_600+1285dup	NM_000538.3:c.600+1283_600+1285dup
RFXAP transcript	NM_000538.4:c.600+1258=	NM_000538.4:c.600+1269_600+1285del	NM_000538.4:c.600+1272_600+1285del	NM_000538.4:c.600+1273_600+1285del	NM_000538.4:c.600+1274_600+1285del	NM_000538.4:c.600+1275_600+1285del	NM_000538.4:c.600+1276_600+1285del	NM_000538.4:c.600+1277_600+1285del	NM_000538.4:c.600+1278_600+1285del	NM_000538.4:c.600+1279_600+1285del	NM_000538.4:c.600+1280_600+1285del	NM_000538.4:c.600+1281_600+1285del	NM_000538.4:c.600+1282_600+1285del	NM_000538.4:c.600+1283_600+1285del	NM_000538.4:c.600+1284_600+1285del	NM_000538.4:c.600+1285del	NM_000538.4:c.600+1285dup	NM_000538.4:c.600+1284_600+1285dup	NM_000538.4:c.600+1283_600+1285dup

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#.

77 SubSNP, 43 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81473337	Oct 12, 2018 (152)
2	HGSV	ss83896674	Dec 15, 2007 (129)
3	PJP	ss294792241	May 09, 2011 (138)
4	PJP	ss294792242	May 09, 2011 (138)
5	BILGI_BIOE	ss666595436	Apr 25, 2013 (138)
6	EVA_UK10K_ALSPAC	ss1707748088	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1707748104	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1710597285	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710597286	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1710597287	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1710597288	Apr 01, 2015 (144)
12	SWEGEN	ss3010868308	Nov 08, 2017 (151)
13	MCHAISSO	ss3063760740	Nov 08, 2017 (151)
14	MCHAISSO	ss3064591722	Nov 08, 2017 (151)
15	URBANLAB	ss3650011060	Oct 12, 2018 (152)
16	EVA_DECODE	ss3695107131	Jul 13, 2019 (153)
17	EVA_DECODE	ss3695107132	Jul 13, 2019 (153)
18	EVA_DECODE	ss3695107133	Jul 13, 2019 (153)
19	EVA_DECODE	ss3695107134	Jul 13, 2019 (153)
20	EVA_DECODE	ss3695107135	Jul 13, 2019 (153)
21	EVA_DECODE	ss3695107136	Jul 13, 2019 (153)
22	ACPOP	ss3739664573	Jul 13, 2019 (153)
23	ACPOP	ss3739664574	Jul 13, 2019 (153)
24	ACPOP	ss3739664575	Jul 13, 2019 (153)
25	PACBIO	ss3792501135	Jul 13, 2019 (153)
26	PACBIO	ss3797384897	Jul 13, 2019 (153)
27	PACBIO	ss3797384898	Jul 13, 2019 (153)
28	EVA	ss3833497542	Apr 27, 2020 (154)
29	KOGIC	ss3973380491	Apr 27, 2020 (154)
30	KOGIC	ss3973380492	Apr 27, 2020 (154)
31	KOGIC	ss3973380493	Apr 27, 2020 (154)
32	KOGIC	ss3973380494	Apr 27, 2020 (154)
33	KOGIC	ss3973380495	Apr 27, 2020 (154)
34	KOGIC	ss3973380496	Apr 27, 2020 (154)
35	GNOMAD	ss4264253455	Apr 27, 2021 (155)
36	GNOMAD	ss4264253456	Apr 27, 2021 (155)
37	GNOMAD	ss4264253457	Apr 27, 2021 (155)
38	GNOMAD	ss4264253458	Apr 27, 2021 (155)
39	GNOMAD	ss4264253459	Apr 27, 2021 (155)
40	GNOMAD	ss4264253460	Apr 27, 2021 (155)
41	GNOMAD	ss4264253461	Apr 27, 2021 (155)
42	GNOMAD	ss4264253462	Apr 27, 2021 (155)
43	GNOMAD	ss4264253463	Apr 27, 2021 (155)
44	GNOMAD	ss4264253464	Apr 27, 2021 (155)
45	GNOMAD	ss4264253465	Apr 27, 2021 (155)
46	GNOMAD	ss4264253466	Apr 27, 2021 (155)
47	GNOMAD	ss4264253467	Apr 27, 2021 (155)
48	GNOMAD	ss4264253468	Apr 27, 2021 (155)
49	GNOMAD	ss4264253469	Apr 27, 2021 (155)
50	GNOMAD	ss4264253470	Apr 27, 2021 (155)
51	TOMMO_GENOMICS	ss5209576882	Apr 27, 2021 (155)
52	TOMMO_GENOMICS	ss5209576883	Apr 27, 2021 (155)
53	TOMMO_GENOMICS	ss5209576884	Apr 27, 2021 (155)
54	TOMMO_GENOMICS	ss5209576885	Apr 27, 2021 (155)
55	TOMMO_GENOMICS	ss5209576886	Apr 27, 2021 (155)
56	TOMMO_GENOMICS	ss5209576887	Apr 27, 2021 (155)
57	1000G_HIGH_COVERAGE	ss5293409997	Oct 16, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5293409998	Oct 16, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5293409999	Oct 16, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5293410000	Oct 16, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5293410001	Oct 16, 2022 (156)
62	1000G_HIGH_COVERAGE	ss5293410002	Oct 16, 2022 (156)
63	HUGCELL_USP	ss5487806829	Oct 16, 2022 (156)
64	HUGCELL_USP	ss5487806830	Oct 16, 2022 (156)
65	HUGCELL_USP	ss5487806831	Oct 16, 2022 (156)
66	HUGCELL_USP	ss5487806832	Oct 16, 2022 (156)
67	HUGCELL_USP	ss5487806833	Oct 16, 2022 (156)
68	TOMMO_GENOMICS	ss5761332643	Oct 16, 2022 (156)
69	TOMMO_GENOMICS	ss5761332644	Oct 16, 2022 (156)
70	TOMMO_GENOMICS	ss5761332645	Oct 16, 2022 (156)
71	TOMMO_GENOMICS	ss5761332646	Oct 16, 2022 (156)
72	TOMMO_GENOMICS	ss5761332647	Oct 16, 2022 (156)
73	TOMMO_GENOMICS	ss5761332648	Oct 16, 2022 (156)
74	EVA	ss5839347087	Oct 16, 2022 (156)
75	EVA	ss5839347088	Oct 16, 2022 (156)
76	EVA	ss5839347089	Oct 16, 2022 (156)
77	EVA	ss5924734497	Oct 16, 2022 (156)
78	The Avon Longitudinal Study of Parents and Children	NC_000013.10 - 37395352	Oct 12, 2018 (152)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428059430 (NC_000013.11:36821214::A 44/96198) Row 428059431 (NC_000013.11:36821214::AA 1/96198) Row 428059432 (NC_000013.11:36821214:A: 145/96178)...	-	Apr 27, 2021 (155)
96	Korean Genome Project Submission ignored due to conflicting rows: Row 29758492 (NC_000013.11:36821216:AAAAAAAA: 451/1824) Row 29758493 (NC_000013.11:36821214:AAAAAAAAAA: 278/1824) Row 29758494 (NC_000013.11:36821221:AAA: 580/1824)...	-	Apr 27, 2020 (154)
97	Korean Genome Project Submission ignored due to conflicting rows: Row 29758492 (NC_000013.11:36821216:AAAAAAAA: 451/1824) Row 29758493 (NC_000013.11:36821214:AAAAAAAAAA: 278/1824) Row 29758494 (NC_000013.11:36821221:AAA: 580/1824)...	-	Apr 27, 2020 (154)
98	Korean Genome Project Submission ignored due to conflicting rows: Row 29758492 (NC_000013.11:36821216:AAAAAAAA: 451/1824) Row 29758493 (NC_000013.11:36821214:AAAAAAAAAA: 278/1824) Row 29758494 (NC_000013.11:36821221:AAA: 580/1824)...	-	Apr 27, 2020 (154)
99	Korean Genome Project Submission ignored due to conflicting rows: Row 29758492 (NC_000013.11:36821216:AAAAAAAA: 451/1824) Row 29758493 (NC_000013.11:36821214:AAAAAAAAAA: 278/1824) Row 29758494 (NC_000013.11:36821221:AAA: 580/1824)...	-	Apr 27, 2020 (154)
100	Korean Genome Project Submission ignored due to conflicting rows: Row 29758492 (NC_000013.11:36821216:AAAAAAAA: 451/1824) Row 29758493 (NC_000013.11:36821214:AAAAAAAAAA: 278/1824) Row 29758494 (NC_000013.11:36821221:AAA: 580/1824)...	-	Apr 27, 2020 (154)
101	Korean Genome Project Submission ignored due to conflicting rows: Row 29758492 (NC_000013.11:36821216:AAAAAAAA: 451/1824) Row 29758493 (NC_000013.11:36821214:AAAAAAAAAA: 278/1824) Row 29758494 (NC_000013.11:36821221:AAA: 580/1824)...	-	Apr 27, 2020 (154)
102	Northern Sweden Submission ignored due to conflicting rows: Row 12949438 (NC_000013.10:37395351:AAA: 327/558) Row 12949439 (NC_000013.10:37395351:AAAAAAAA: 25/558) Row 12949440 (NC_000013.10:37395351:AAAAAAAAAA: 1/558)	-	Jul 13, 2019 (153)
103	Northern Sweden Submission ignored due to conflicting rows: Row 12949438 (NC_000013.10:37395351:AAA: 327/558) Row 12949439 (NC_000013.10:37395351:AAAAAAAA: 25/558) Row 12949440 (NC_000013.10:37395351:AAAAAAAAAA: 1/558)	-	Jul 13, 2019 (153)
104	Northern Sweden Submission ignored due to conflicting rows: Row 12949438 (NC_000013.10:37395351:AAA: 327/558) Row 12949439 (NC_000013.10:37395351:AAAAAAAA: 25/558) Row 12949440 (NC_000013.10:37395351:AAAAAAAAAA: 1/558)	-	Jul 13, 2019 (153)
105	8.3KJPN Submission ignored due to conflicting rows: Row 67546189 (NC_000013.10:37395351:AAA: 5300/16610) Row 67546190 (NC_000013.10:37395351:AAAAAAAAAA: 3390/16610) Row 67546191 (NC_000013.10:37395351:AAAAAAAA: 4514/16610)...	-	Apr 27, 2021 (155)
106	8.3KJPN Submission ignored due to conflicting rows: Row 67546189 (NC_000013.10:37395351:AAA: 5300/16610) Row 67546190 (NC_000013.10:37395351:AAAAAAAAAA: 3390/16610) Row 67546191 (NC_000013.10:37395351:AAAAAAAA: 4514/16610)...	-	Apr 27, 2021 (155)
107	8.3KJPN Submission ignored due to conflicting rows: Row 67546189 (NC_000013.10:37395351:AAA: 5300/16610) Row 67546190 (NC_000013.10:37395351:AAAAAAAAAA: 3390/16610) Row 67546191 (NC_000013.10:37395351:AAAAAAAA: 4514/16610)...	-	Apr 27, 2021 (155)
108	8.3KJPN Submission ignored due to conflicting rows: Row 67546189 (NC_000013.10:37395351:AAA: 5300/16610) Row 67546190 (NC_000013.10:37395351:AAAAAAAAAA: 3390/16610) Row 67546191 (NC_000013.10:37395351:AAAAAAAA: 4514/16610)...	-	Apr 27, 2021 (155)
109	8.3KJPN Submission ignored due to conflicting rows: Row 67546189 (NC_000013.10:37395351:AAA: 5300/16610) Row 67546190 (NC_000013.10:37395351:AAAAAAAAAA: 3390/16610) Row 67546191 (NC_000013.10:37395351:AAAAAAAA: 4514/16610)...	-	Apr 27, 2021 (155)
110	8.3KJPN Submission ignored due to conflicting rows: Row 67546189 (NC_000013.10:37395351:AAA: 5300/16610) Row 67546190 (NC_000013.10:37395351:AAAAAAAAAA: 3390/16610) Row 67546191 (NC_000013.10:37395351:AAAAAAAA: 4514/16610)...	-	Apr 27, 2021 (155)
111	14KJPN Submission ignored due to conflicting rows: Row 95169747 (NC_000013.11:36821214:AAAAAAAAAA: 5795/28182) Row 95169748 (NC_000013.11:36821214:AAA: 9399/28182) Row 95169749 (NC_000013.11:36821214:AAAAAAAA: 7692/28182)...	-	Oct 16, 2022 (156)
112	14KJPN Submission ignored due to conflicting rows: Row 95169747 (NC_000013.11:36821214:AAAAAAAAAA: 5795/28182) Row 95169748 (NC_000013.11:36821214:AAA: 9399/28182) Row 95169749 (NC_000013.11:36821214:AAAAAAAA: 7692/28182)...	-	Oct 16, 2022 (156)
113	14KJPN Submission ignored due to conflicting rows: Row 95169747 (NC_000013.11:36821214:AAAAAAAAAA: 5795/28182) Row 95169748 (NC_000013.11:36821214:AAA: 9399/28182) Row 95169749 (NC_000013.11:36821214:AAAAAAAA: 7692/28182)...	-	Oct 16, 2022 (156)
114	14KJPN Submission ignored due to conflicting rows: Row 95169747 (NC_000013.11:36821214:AAAAAAAAAA: 5795/28182) Row 95169748 (NC_000013.11:36821214:AAA: 9399/28182) Row 95169749 (NC_000013.11:36821214:AAAAAAAA: 7692/28182)...	-	Oct 16, 2022 (156)
115	14KJPN Submission ignored due to conflicting rows: Row 95169747 (NC_000013.11:36821214:AAAAAAAAAA: 5795/28182) Row 95169748 (NC_000013.11:36821214:AAA: 9399/28182) Row 95169749 (NC_000013.11:36821214:AAAAAAAA: 7692/28182)...	-	Oct 16, 2022 (156)
116	14KJPN Submission ignored due to conflicting rows: Row 95169747 (NC_000013.11:36821214:AAAAAAAAAA: 5795/28182) Row 95169748 (NC_000013.11:36821214:AAA: 9399/28182) Row 95169749 (NC_000013.11:36821214:AAAAAAAA: 7692/28182)...	-	Oct 16, 2022 (156)
117	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33723834 (NC_000013.10:37395355:AAAA: 841/3708) Row 33723835 (NC_000013.10:37395356:AAA: 2632/3708) Row 33723836 (NC_000013.10:37395351:AAAAAAAA: 235/3708)	-	Apr 27, 2020 (154)
118	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33723834 (NC_000013.10:37395355:AAAA: 841/3708) Row 33723835 (NC_000013.10:37395356:AAA: 2632/3708) Row 33723836 (NC_000013.10:37395351:AAAAAAAA: 235/3708)	-	Apr 27, 2020 (154)
119	UK 10K study - Twins	-	Oct 12, 2018 (152)
120	ALFA	NC_000013.11 - 36821215	Apr 27, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs71790175	Oct 26, 2010 (133)
rs67233853	Oct 26, 2010 (133)
rs145181771	Apr 25, 2013 (138)
rs148910504	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4264253470	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4264253469	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4264253468	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4264253467	NC_000013.11:36821214:AAAAAAAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4264253466	NC_000013.11:36821214:AAAAAAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3010868308, ss3739664575, ss5209576883	NC_000013.10:37395351:AAAAAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3695107136, ss3973380492, ss4264253465, ss5293410001, ss5487806833, ss5761332643, ss5924734497	NC_000013.11:36821214:AAAAAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4264253464	NC_000013.11:36821214:AAAAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3973380494	NC_000013.11:36821215:AAAAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
33723836, ss1707748088, ss1707748104, ss3739664574, ss5209576884, ss5839347089	NC_000013.10:37395351:AAAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3063760740, ss4264253463, ss5293409998, ss5487806829, ss5761332645	NC_000013.11:36821214:AAAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3695107135, ss3973380491	NC_000013.11:36821216:AAAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4264253462	NC_000013.11:36821214:AAAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4264253461	NC_000013.11:36821214:AAAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4264253460	NC_000013.11:36821214:AAAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5209576887, ss5839347088	NC_000013.10:37395351:AAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1710597285, ss1710597286	NC_000013.10:37395355:AAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4264253459, ss5293409999, ss5487806831, ss5761332647	NC_000013.11:36821214:AAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3695107134, ss3973380495	NC_000013.11:36821220:AAAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss294792241	NC_000013.9:36293351:AAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss83896674, ss294792242	NC_000013.9:36293376:AAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss666595436, ss3739664573, ss3792501135, ss3797384897, ss5209576882, ss5839347087	NC_000013.10:37395351:AAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1710597287, ss1710597288	NC_000013.10:37395356:AAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3064591722, ss4264253458, ss5293409997, ss5487806830, ss5761332644	NC_000013.11:36821214:AAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3695107133, ss3973380493	NC_000013.11:36821221:AAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3650011060	NC_000013.11:36821237:AAA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3797384898, ss3833497542, ss5209576885	NC_000013.10:37395351:AA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4264253457, ss5293410000, ss5487806832, ss5761332648	NC_000013.11:36821214:AA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3695107132, ss3973380496	NC_000013.11:36821222:AA:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000013.11:36821214:A:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3695107131	NC_000013.11:36821223:A:	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5209576886	NC_000013.10:37395351::A	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4264253455, ss5293410002, ss5761332646	NC_000013.11:36821214::A	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss81473337	NT_024524.14:18375379::A	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4264253456	NC_000013.11:36821214::AA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4006739602	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:36821214:AAAAAAAAAAAA… NC_000013.11:36821214:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs10573140

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

rs10573140