Name: rs56006444
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.

rs56006444

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:106687183-106687226 (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(CA)₁₃ / del(CA)₁₂ / del(CA)₁₁ …
del(CA)₁₃ / del(CA)₁₂ / del(CA)₁₁ / del(CA)₁₀ / del(CA)₉ / del(CA)₈ / del(CA)₇ / del(CA)₆ / del(CA)₅ / del(CA)₄ / del(CA)₃ / delCACA / delCA / dupCA / dupCACA / dup(CA)₃ / dup(CA)₄ / dup(CA)₅ / dup(CA)₆
Variation Type: Indel Insertion and Deletion
Frequency: delCACA=0.2119 (1315/6206, ALFA)
del(CA)₅=0.1692 (652/3854, ALSPAC)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RFX4 : Intron Variant
LOC100287944 : 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	6206	CACACACACACACACACACACACACACACACACACACACACACA=0.5151	CACACACACACACACACA=0.0000, CACACACACACACACACACA=0.0000, CACACACACACACACACACACA=0.0000, CACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACA=0.0251, CACACACACACACACACACACACACACACACACA=0.0944, CACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACA=0.0564, CACACACACACACACACACACACACACACACACACACACA=0.2119, CACACACACACACACACACACACACACACACACACACACACA=0.0541, CACACACACACACACACACACACACACACACACACACACACACACA=0.0429, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000	0.639522	0.123576	0.236902	32
European	Sub	5624	CACACACACACACACACACACACACACACACACACACACACACA=0.4660	CACACACACACACACACA=0.0000, CACACACACACACACACACA=0.0000, CACACACACACACACACACACA=0.0000, CACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACA=0.0277, CACACACACACACACACACACACACACACACACA=0.1037, CACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACA=0.0621, CACACACACACACACACACACACACACACACACACACACA=0.2335, CACACACACACACACACACACACACACACACACACACACACA=0.0597, CACACACACACACACACACACACACACACACACACACACACACACA=0.0473, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000	0.569189	0.147239	0.283572	32
African	Sub	348	CACACACACACACACACACACACACACACACACACACACACACA=1.000	CACACACACACACACACA=0.000, CACACACACACACACACACA=0.000, CACACACACACACACACACACA=0.000, CACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	8	CACACACACACACACACACACACACACACACACACACACACACA=1.0	CACACACACACACACACA=0.0, CACACACACACACACACACA=0.0, CACACACACACACACACACACA=0.0, CACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0	1.0	0.0	0.0	N/A
African American	Sub	340	CACACACACACACACACACACACACACACACACACACACACACA=1.000	CACACACACACACACACA=0.000, CACACACACACACACACACA=0.000, CACACACACACACACACACACA=0.000, CACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	20	CACACACACACACACACACACACACACACACACACACACACACA=1.00	CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	18	CACACACACACACACACACACACACACACACACACACACACACA=1.00	CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	2	CACACACACACACACACACACACACACACACACACACACACACA=1.0	CACACACACACACACACA=0.0, CACACACACACACACACACA=0.0, CACACACACACACACACACACA=0.0, CACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	32	CACACACACACACACACACACACACACACACACACACACACACA=1.00	CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	84	CACACACACACACACACACACACACACACACACACACACACACA=1.00	CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	20	CACACACACACACACACACACACACACACACACACACACACACA=1.00	CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other	Sub	78	CACACACACACACACACACACACACACACACACACACACACACA=0.92	CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.04, CACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.01, CACACACACACACACACACACACACACACACACACACACA=0.03, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	0.972973	0.027027	0.0	20

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	6206	(CA)₂₂=0.5151	del(CA)₁₃=0.0000, del(CA)₁₂=0.0000, del(CA)₁₁=0.0000, del(CA)₁₀=0.0000, del(CA)₉=0.0000, del(CA)₈=0.0000, del(CA)₇=0.0000, del(CA)₆=0.0251, del(CA)₅=0.0944, del(CA)₄=0.0000, del(CA)₃=0.0564, delCACA=0.2119, delCA=0.0541, dupCA=0.0429, dupCACA=0.0000, dup(CA)₃=0.0000, dup(CA)₄=0.0000, dup(CA)₅=0.0000
Allele Frequency Aggregator	European	Sub	5624	(CA)₂₂=0.4660	del(CA)₁₃=0.0000, del(CA)₁₂=0.0000, del(CA)₁₁=0.0000, del(CA)₁₀=0.0000, del(CA)₉=0.0000, del(CA)₈=0.0000, del(CA)₇=0.0000, del(CA)₆=0.0277, del(CA)₅=0.1037, del(CA)₄=0.0000, del(CA)₃=0.0621, delCACA=0.2335, delCA=0.0597, dupCA=0.0473, dupCACA=0.0000, dup(CA)₃=0.0000, dup(CA)₄=0.0000, dup(CA)₅=0.0000
Allele Frequency Aggregator	African	Sub	348	(CA)₂₂=1.000	del(CA)₁₃=0.000, del(CA)₁₂=0.000, del(CA)₁₁=0.000, del(CA)₁₀=0.000, del(CA)₉=0.000, del(CA)₈=0.000, del(CA)₇=0.000, del(CA)₆=0.000, del(CA)₅=0.000, del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000, dup(CA)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	84	(CA)₂₂=1.00	del(CA)₁₃=0.00, del(CA)₁₂=0.00, del(CA)₁₁=0.00, del(CA)₁₀=0.00, del(CA)₉=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00
Allele Frequency Aggregator	Other	Sub	78	(CA)₂₂=0.92	del(CA)₁₃=0.00, del(CA)₁₂=0.00, del(CA)₁₁=0.00, del(CA)₁₀=0.00, del(CA)₉=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.04, del(CA)₄=0.00, del(CA)₃=0.01, delCACA=0.03, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	32	(CA)₂₂=1.00	del(CA)₁₃=0.00, del(CA)₁₂=0.00, del(CA)₁₁=0.00, del(CA)₁₀=0.00, del(CA)₉=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	20	(CA)₂₂=1.00	del(CA)₁₃=0.00, del(CA)₁₂=0.00, del(CA)₁₁=0.00, del(CA)₁₀=0.00, del(CA)₉=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00
Allele Frequency Aggregator	Asian	Sub	20	(CA)₂₂=1.00	del(CA)₁₃=0.00, del(CA)₁₂=0.00, del(CA)₁₁=0.00, del(CA)₁₀=0.00, del(CA)₉=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(CA)₂₂=0.8308	del(CA)₅=0.1692

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 12	NC_000012.12:g.106687183CA[9]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[10]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[11]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[12]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[13]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[14]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[15]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[16]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[17]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[18]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[19]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[20]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[21]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[23]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[24]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[25]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[26]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[27]
GRCh38.p14 chr 12	NC_000012.12:g.106687183CA[28]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[9]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[10]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[11]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[12]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[13]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[14]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[15]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[16]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[17]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[18]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[19]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[20]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[21]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[23]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[24]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[25]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[26]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[27]
GRCh37.p13 chr 12	NC_000012.11:g.107080961CA[28]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[9]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[10]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[11]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[12]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[13]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[14]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[15]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[16]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[17]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[18]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[19]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[20]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[21]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[23]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[24]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[25]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[26]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[27]
RFX4 RefSeqGene	NG_047074.1:g.109277CA[28]

Gene: RFX4, regulatory factor X4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RFX4 transcript variant 4	NM_001206691.2:c.618+86CA… NM_001206691.2:c.618+86CA[9]	N/A	Intron Variant
RFX4 transcript variant 1	NM_032491.6:c.309+86CA[9]	N/A	Intron Variant
RFX4 transcript variant 3	NM_213594.3:c.591+86CA[9]	N/A	Intron Variant

Gene: LOC100287944, uncharacterized LOC100287944 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC100287944 transcript	NR_040246.1:n.	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(CA)₂₂=	del(CA)₁₃	del(CA)₁₂	del(CA)₁₁	del(CA)₁₀	del(CA)₉	del(CA)₈	del(CA)₇	del(CA)₆	del(CA)₅	del(CA)₄	del(CA)₃	delCACA	delCA	dupCA	dupCACA	dup(CA)₃	dup(CA)₄	dup(CA)₅	dup(CA)₆
GRCh38.p14 chr 12	NC_000012.12:g.106687183_106687226=	NC_000012.12:g.106687183CA[9]	NC_000012.12:g.106687183CA[10]	NC_000012.12:g.106687183CA[11]	NC_000012.12:g.106687183CA[12]	NC_000012.12:g.106687183CA[13]	NC_000012.12:g.106687183CA[14]	NC_000012.12:g.106687183CA[15]	NC_000012.12:g.106687183CA[16]	NC_000012.12:g.106687183CA[17]	NC_000012.12:g.106687183CA[18]	NC_000012.12:g.106687183CA[19]	NC_000012.12:g.106687183CA[20]	NC_000012.12:g.106687183CA[21]	NC_000012.12:g.106687183CA[23]	NC_000012.12:g.106687183CA[24]	NC_000012.12:g.106687183CA[25]	NC_000012.12:g.106687183CA[26]	NC_000012.12:g.106687183CA[27]	NC_000012.12:g.106687183CA[28]
GRCh37.p13 chr 12	NC_000012.11:g.107080961_107081004=	NC_000012.11:g.107080961CA[9]	NC_000012.11:g.107080961CA[10]	NC_000012.11:g.107080961CA[11]	NC_000012.11:g.107080961CA[12]	NC_000012.11:g.107080961CA[13]	NC_000012.11:g.107080961CA[14]	NC_000012.11:g.107080961CA[15]	NC_000012.11:g.107080961CA[16]	NC_000012.11:g.107080961CA[17]	NC_000012.11:g.107080961CA[18]	NC_000012.11:g.107080961CA[19]	NC_000012.11:g.107080961CA[20]	NC_000012.11:g.107080961CA[21]	NC_000012.11:g.107080961CA[23]	NC_000012.11:g.107080961CA[24]	NC_000012.11:g.107080961CA[25]	NC_000012.11:g.107080961CA[26]	NC_000012.11:g.107080961CA[27]	NC_000012.11:g.107080961CA[28]
RFX4 RefSeqGene	NG_047074.1:g.109277_109320=	NG_047074.1:g.109277CA[9]	NG_047074.1:g.109277CA[10]	NG_047074.1:g.109277CA[11]	NG_047074.1:g.109277CA[12]	NG_047074.1:g.109277CA[13]	NG_047074.1:g.109277CA[14]	NG_047074.1:g.109277CA[15]	NG_047074.1:g.109277CA[16]	NG_047074.1:g.109277CA[17]	NG_047074.1:g.109277CA[18]	NG_047074.1:g.109277CA[19]	NG_047074.1:g.109277CA[20]	NG_047074.1:g.109277CA[21]	NG_047074.1:g.109277CA[23]	NG_047074.1:g.109277CA[24]	NG_047074.1:g.109277CA[25]	NG_047074.1:g.109277CA[26]	NG_047074.1:g.109277CA[27]	NG_047074.1:g.109277CA[28]
RFX4 transcript variant 4	NM_001206691.1:c.618+86=	NM_001206691.1:c.618+86CA[9]	NM_001206691.1:c.618+86CA[10]	NM_001206691.1:c.618+86CA[11]	NM_001206691.1:c.618+86CA[12]	NM_001206691.1:c.618+86CA[13]	NM_001206691.1:c.618+86CA[14]	NM_001206691.1:c.618+86CA[15]	NM_001206691.1:c.618+86CA[16]	NM_001206691.1:c.618+86CA[17]	NM_001206691.1:c.618+86CA[18]	NM_001206691.1:c.618+86CA[19]	NM_001206691.1:c.618+86CA[20]	NM_001206691.1:c.618+86CA[21]	NM_001206691.1:c.618+86CA[23]	NM_001206691.1:c.618+86CA[24]	NM_001206691.1:c.618+86CA[25]	NM_001206691.1:c.618+86CA[26]	NM_001206691.1:c.618+86CA[27]	NM_001206691.1:c.618+86CA[28]
RFX4 transcript variant 4	NM_001206691.2:c.618+86=	NM_001206691.2:c.618+86CA[9]	NM_001206691.2:c.618+86CA[10]	NM_001206691.2:c.618+86CA[11]	NM_001206691.2:c.618+86CA[12]	NM_001206691.2:c.618+86CA[13]	NM_001206691.2:c.618+86CA[14]	NM_001206691.2:c.618+86CA[15]	NM_001206691.2:c.618+86CA[16]	NM_001206691.2:c.618+86CA[17]	NM_001206691.2:c.618+86CA[18]	NM_001206691.2:c.618+86CA[19]	NM_001206691.2:c.618+86CA[20]	NM_001206691.2:c.618+86CA[21]	NM_001206691.2:c.618+86CA[23]	NM_001206691.2:c.618+86CA[24]	NM_001206691.2:c.618+86CA[25]	NM_001206691.2:c.618+86CA[26]	NM_001206691.2:c.618+86CA[27]	NM_001206691.2:c.618+86CA[28]
RFX4 transcript variant 1	NM_032491.5:c.309+86=	NM_032491.5:c.309+86CA[9]	NM_032491.5:c.309+86CA[10]	NM_032491.5:c.309+86CA[11]	NM_032491.5:c.309+86CA[12]	NM_032491.5:c.309+86CA[13]	NM_032491.5:c.309+86CA[14]	NM_032491.5:c.309+86CA[15]	NM_032491.5:c.309+86CA[16]	NM_032491.5:c.309+86CA[17]	NM_032491.5:c.309+86CA[18]	NM_032491.5:c.309+86CA[19]	NM_032491.5:c.309+86CA[20]	NM_032491.5:c.309+86CA[21]	NM_032491.5:c.309+86CA[23]	NM_032491.5:c.309+86CA[24]	NM_032491.5:c.309+86CA[25]	NM_032491.5:c.309+86CA[26]	NM_032491.5:c.309+86CA[27]	NM_032491.5:c.309+86CA[28]
RFX4 transcript variant 1	NM_032491.6:c.309+86=	NM_032491.6:c.309+86CA[9]	NM_032491.6:c.309+86CA[10]	NM_032491.6:c.309+86CA[11]	NM_032491.6:c.309+86CA[12]	NM_032491.6:c.309+86CA[13]	NM_032491.6:c.309+86CA[14]	NM_032491.6:c.309+86CA[15]	NM_032491.6:c.309+86CA[16]	NM_032491.6:c.309+86CA[17]	NM_032491.6:c.309+86CA[18]	NM_032491.6:c.309+86CA[19]	NM_032491.6:c.309+86CA[20]	NM_032491.6:c.309+86CA[21]	NM_032491.6:c.309+86CA[23]	NM_032491.6:c.309+86CA[24]	NM_032491.6:c.309+86CA[25]	NM_032491.6:c.309+86CA[26]	NM_032491.6:c.309+86CA[27]	NM_032491.6:c.309+86CA[28]
RFX4 transcript variant 3	NM_213594.2:c.591+86=	NM_213594.2:c.591+86CA[9]	NM_213594.2:c.591+86CA[10]	NM_213594.2:c.591+86CA[11]	NM_213594.2:c.591+86CA[12]	NM_213594.2:c.591+86CA[13]	NM_213594.2:c.591+86CA[14]	NM_213594.2:c.591+86CA[15]	NM_213594.2:c.591+86CA[16]	NM_213594.2:c.591+86CA[17]	NM_213594.2:c.591+86CA[18]	NM_213594.2:c.591+86CA[19]	NM_213594.2:c.591+86CA[20]	NM_213594.2:c.591+86CA[21]	NM_213594.2:c.591+86CA[23]	NM_213594.2:c.591+86CA[24]	NM_213594.2:c.591+86CA[25]	NM_213594.2:c.591+86CA[26]	NM_213594.2:c.591+86CA[27]	NM_213594.2:c.591+86CA[28]
RFX4 transcript variant 3	NM_213594.3:c.591+86=	NM_213594.3:c.591+86CA[9]	NM_213594.3:c.591+86CA[10]	NM_213594.3:c.591+86CA[11]	NM_213594.3:c.591+86CA[12]	NM_213594.3:c.591+86CA[13]	NM_213594.3:c.591+86CA[14]	NM_213594.3:c.591+86CA[15]	NM_213594.3:c.591+86CA[16]	NM_213594.3:c.591+86CA[17]	NM_213594.3:c.591+86CA[18]	NM_213594.3:c.591+86CA[19]	NM_213594.3:c.591+86CA[20]	NM_213594.3:c.591+86CA[21]	NM_213594.3:c.591+86CA[23]	NM_213594.3:c.591+86CA[24]	NM_213594.3:c.591+86CA[25]	NM_213594.3:c.591+86CA[26]	NM_213594.3:c.591+86CA[27]	NM_213594.3:c.591+86CA[28]
RFX4 transcript variant X1	XM_005269067.1:c.618+86=	XM_005269067.1:c.618+86CA[9]	XM_005269067.1:c.618+86CA[10]	XM_005269067.1:c.618+86CA[11]	XM_005269067.1:c.618+86CA[12]	XM_005269067.1:c.618+86CA[13]	XM_005269067.1:c.618+86CA[14]	XM_005269067.1:c.618+86CA[15]	XM_005269067.1:c.618+86CA[16]	XM_005269067.1:c.618+86CA[17]	XM_005269067.1:c.618+86CA[18]	XM_005269067.1:c.618+86CA[19]	XM_005269067.1:c.618+86CA[20]	XM_005269067.1:c.618+86CA[21]	XM_005269067.1:c.618+86CA[23]	XM_005269067.1:c.618+86CA[24]	XM_005269067.1:c.618+86CA[25]	XM_005269067.1:c.618+86CA[26]	XM_005269067.1:c.618+86CA[27]	XM_005269067.1:c.618+86CA[28]
RFX4 transcript variant X2	XM_005269068.1:c.426+86=	XM_005269068.1:c.426+86CA[9]	XM_005269068.1:c.426+86CA[10]	XM_005269068.1:c.426+86CA[11]	XM_005269068.1:c.426+86CA[12]	XM_005269068.1:c.426+86CA[13]	XM_005269068.1:c.426+86CA[14]	XM_005269068.1:c.426+86CA[15]	XM_005269068.1:c.426+86CA[16]	XM_005269068.1:c.426+86CA[17]	XM_005269068.1:c.426+86CA[18]	XM_005269068.1:c.426+86CA[19]	XM_005269068.1:c.426+86CA[20]	XM_005269068.1:c.426+86CA[21]	XM_005269068.1:c.426+86CA[23]	XM_005269068.1:c.426+86CA[24]	XM_005269068.1:c.426+86CA[25]	XM_005269068.1:c.426+86CA[26]	XM_005269068.1:c.426+86CA[27]	XM_005269068.1:c.426+86CA[28]
RFX4 transcript variant X3	XM_005269069.1:c.618+86=	XM_005269069.1:c.618+86CA[9]	XM_005269069.1:c.618+86CA[10]	XM_005269069.1:c.618+86CA[11]	XM_005269069.1:c.618+86CA[12]	XM_005269069.1:c.618+86CA[13]	XM_005269069.1:c.618+86CA[14]	XM_005269069.1:c.618+86CA[15]	XM_005269069.1:c.618+86CA[16]	XM_005269069.1:c.618+86CA[17]	XM_005269069.1:c.618+86CA[18]	XM_005269069.1:c.618+86CA[19]	XM_005269069.1:c.618+86CA[20]	XM_005269069.1:c.618+86CA[21]	XM_005269069.1:c.618+86CA[23]	XM_005269069.1:c.618+86CA[24]	XM_005269069.1:c.618+86CA[25]	XM_005269069.1:c.618+86CA[26]	XM_005269069.1:c.618+86CA[27]	XM_005269069.1:c.618+86CA[28]

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#.

57 SubSNP, 37 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77903320	Dec 06, 2007 (129)
2	SSMP	ss664087529	Apr 01, 2015 (144)
3	EVA_UK10K_ALSPAC	ss1707613323	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1707613374	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1710578376	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1710578407	Apr 01, 2015 (144)
7	TMC_SNPDB	ss1997055760	Jul 19, 2016 (147)
8	SWEGEN	ss3010302052	Nov 08, 2017 (151)
9	MCHAISSO	ss3063744799	Nov 08, 2017 (151)
10	MCHAISSO	ss3065496219	Nov 08, 2017 (151)
11	URBANLAB	ss3649918238	Oct 12, 2018 (152)
12	PACBIO	ss3787328519	Jul 13, 2019 (153)
13	PACBIO	ss3792412666	Jul 13, 2019 (153)
14	PACBIO	ss3797295717	Jul 13, 2019 (153)
15	KOGIC	ss3972663646	Apr 27, 2020 (154)
16	KOGIC	ss3972663647	Apr 27, 2020 (154)
17	KOGIC	ss3972663648	Apr 27, 2020 (154)
18	KOGIC	ss3972663649	Apr 27, 2020 (154)
19	KOGIC	ss3972663650	Apr 27, 2020 (154)
20	GNOMAD	ss4258501051	Apr 26, 2021 (155)
21	GNOMAD	ss4258501052	Apr 26, 2021 (155)
22	GNOMAD	ss4258501053	Apr 26, 2021 (155)
23	GNOMAD	ss4258501054	Apr 26, 2021 (155)
24	GNOMAD	ss4258501055	Apr 26, 2021 (155)
25	GNOMAD	ss4258501056	Apr 26, 2021 (155)
26	GNOMAD	ss4258501079	Apr 26, 2021 (155)
27	GNOMAD	ss4258501080	Apr 26, 2021 (155)
28	GNOMAD	ss4258501081	Apr 26, 2021 (155)
29	GNOMAD	ss4258501082	Apr 26, 2021 (155)
30	GNOMAD	ss4258501083	Apr 26, 2021 (155)
31	GNOMAD	ss4258501084	Apr 26, 2021 (155)
32	GNOMAD	ss4258501085	Apr 26, 2021 (155)
33	GNOMAD	ss4258501086	Apr 26, 2021 (155)
34	GNOMAD	ss4258501087	Apr 26, 2021 (155)
35	GNOMAD	ss4258501088	Apr 26, 2021 (155)
36	GNOMAD	ss4258501089	Apr 26, 2021 (155)
37	GNOMAD	ss4258501090	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5208032625	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5208032626	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5208032627	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5208032629	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5208032630	Apr 26, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5292132712	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5292132713	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5486745792	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5486745793	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5486745794	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5486745796	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5486745797	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5758312699	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5758312700	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5758312701	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5758312702	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5758312703	Oct 16, 2022 (156)
55	EVA	ss5800180015	Oct 16, 2022 (156)
56	EVA	ss5838474688	Oct 16, 2022 (156)
57	EVA	ss5838474689	Oct 16, 2022 (156)
58	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 107080961	Oct 12, 2018 (152)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418484190 (NC_000012.12:106687182::CA 2474/126264) Row 418484191 (NC_000012.12:106687182::CACA 235/126330) Row 418484192 (NC_000012.12:106687182::CACACA 107/126332)...	-	Apr 26, 2021 (155)
77	Korean Genome Project Submission ignored due to conflicting rows: Row 29041647 (NC_000012.12:106687182:CACACACACA: 583/1832) Row 29041648 (NC_000012.12:106687184:CACACACA: 89/1832) Row 29041649 (NC_000012.12:106687188:CACA: 409/1832)...	-	Apr 27, 2020 (154)
78	Korean Genome Project Submission ignored due to conflicting rows: Row 29041647 (NC_000012.12:106687182:CACACACACA: 583/1832) Row 29041648 (NC_000012.12:106687184:CACACACA: 89/1832) Row 29041649 (NC_000012.12:106687188:CACA: 409/1832)...	-	Apr 27, 2020 (154)
79	Korean Genome Project Submission ignored due to conflicting rows: Row 29041647 (NC_000012.12:106687182:CACACACACA: 583/1832) Row 29041648 (NC_000012.12:106687184:CACACACA: 89/1832) Row 29041649 (NC_000012.12:106687188:CACA: 409/1832)...	-	Apr 27, 2020 (154)
80	Korean Genome Project Submission ignored due to conflicting rows: Row 29041647 (NC_000012.12:106687182:CACACACACA: 583/1832) Row 29041648 (NC_000012.12:106687184:CACACACA: 89/1832) Row 29041649 (NC_000012.12:106687188:CACA: 409/1832)...	-	Apr 27, 2020 (154)
81	Korean Genome Project Submission ignored due to conflicting rows: Row 29041647 (NC_000012.12:106687182:CACACACACA: 583/1832) Row 29041648 (NC_000012.12:106687184:CACACACA: 89/1832) Row 29041649 (NC_000012.12:106687188:CACA: 409/1832)...	-	Apr 27, 2020 (154)
82	8.3KJPN Submission ignored due to conflicting rows: Row 66001932 (NC_000012.11:107080960:CACACACACA: 5901/16672) Row 66001933 (NC_000012.11:107080960:CACA: 4294/16672) Row 66001934 (NC_000012.11:107080960:CA: 501/16672)...	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 66001932 (NC_000012.11:107080960:CACACACACA: 5901/16672) Row 66001933 (NC_000012.11:107080960:CACA: 4294/16672) Row 66001934 (NC_000012.11:107080960:CA: 501/16672)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 66001932 (NC_000012.11:107080960:CACACACACA: 5901/16672) Row 66001933 (NC_000012.11:107080960:CACA: 4294/16672) Row 66001934 (NC_000012.11:107080960:CA: 501/16672)...	-	Apr 26, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 66001932 (NC_000012.11:107080960:CACACACACA: 5901/16672) Row 66001933 (NC_000012.11:107080960:CACA: 4294/16672) Row 66001934 (NC_000012.11:107080960:CA: 501/16672)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 66001932 (NC_000012.11:107080960:CACACACACA: 5901/16672) Row 66001933 (NC_000012.11:107080960:CACA: 4294/16672) Row 66001934 (NC_000012.11:107080960:CA: 501/16672)...	-	Apr 26, 2021 (155)
87	14KJPN Submission ignored due to conflicting rows: Row 92149803 (NC_000012.12:106687182:CACACACACA: 10044/28238) Row 92149804 (NC_000012.12:106687182:CACACACA: 713/28238) Row 92149805 (NC_000012.12:106687182:CACA: 7254/28238)...	-	Oct 16, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 92149803 (NC_000012.12:106687182:CACACACACA: 10044/28238) Row 92149804 (NC_000012.12:106687182:CACACACA: 713/28238) Row 92149805 (NC_000012.12:106687182:CACA: 7254/28238)...	-	Oct 16, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 92149803 (NC_000012.12:106687182:CACACACACA: 10044/28238) Row 92149804 (NC_000012.12:106687182:CACACACA: 713/28238) Row 92149805 (NC_000012.12:106687182:CACA: 7254/28238)...	-	Oct 16, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 92149803 (NC_000012.12:106687182:CACACACACA: 10044/28238) Row 92149804 (NC_000012.12:106687182:CACACACA: 713/28238) Row 92149805 (NC_000012.12:106687182:CACA: 7254/28238)...	-	Oct 16, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 92149803 (NC_000012.12:106687182:CACACACACA: 10044/28238) Row 92149804 (NC_000012.12:106687182:CACACACA: 713/28238) Row 92149805 (NC_000012.12:106687182:CACA: 7254/28238)...	-	Oct 16, 2022 (156)
92	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32948488 (NC_000012.11:107080966:CACA: 1557/3708) Row 32948489 (NC_000012.11:107080960:CACACACACA: 613/3708)	-	Apr 27, 2020 (154)
93	UK 10K study - Twins	-	Oct 12, 2018 (152)
94	ALFA	NC_000012.12 - 106687183	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
ss4258501090	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA	(self)
ss4258501089	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA	(self)
ss4258501088	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA	(self)
ss4258501087	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA	(self)
ss4258501086	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	(self)
ss3065496219, ss4258501085	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA	(self)
ss3063744799, ss4258501084	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA	(self)
32948489, ss664087529, ss1707613323, ss1707613374, ss1997055760, ss3010302052, ss5208032625	NC_000012.11:107080960:CACACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA	(self)
ss3972663646, ss4258501083, ss5292132712, ss5486745796, ss5758312699	NC_000012.12:106687182:CACACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA	(self)
ss3649918238	NC_000012.12:106687194:CACACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA	(self)
ss5208032629, ss5800180015	NC_000012.11:107080960:CACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA	(self)
ss4258501082, ss5486745797, ss5758312700	NC_000012.12:106687182:CACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA	(self)
ss3972663647	NC_000012.12:106687184:CACACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA	(self)
ss5208032630, ss5838474689	NC_000012.11:107080960:CACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA	(self)
ss4258501081, ss5486745792, ss5758312703	NC_000012.12:106687182:CACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA	(self)
ss3972663650	NC_000012.12:106687186:CACACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA	(self)
ss77903320	NC_000012.9:105583467:CACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA	(self)
ss3787328519, ss3792412666, ss3797295717, ss5208032626, ss5838474688	NC_000012.11:107080960:CACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA	(self)
ss1710578376, ss1710578407	NC_000012.11:107080966:CACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA	(self)
ss4258501080, ss5292132713, ss5486745793, ss5758312701	NC_000012.12:106687182:CACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA	(self)
ss3972663648	NC_000012.12:106687188:CACA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA	(self)
ss5208032627	NC_000012.11:107080960:CA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA	(self)
ss4258501079, ss5486745794, ss5758312702	NC_000012.12:106687182:CA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA	(self)
ss3972663649	NC_000012.12:106687190:CA:	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA	(self)
ss4258501051	NC_000012.12:106687182::CA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4258501052	NC_000012.12:106687182::CACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4258501053	NC_000012.12:106687182::CACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4258501054	NC_000012.12:106687182::CACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4258501055	NC_000012.12:106687182::CACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
2418871189	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4258501056	NC_000012.12:106687182::CACACACACA… NC_000012.12:106687182::CACACACACACA	NC_000012.12:106687182:CACACACACAC… NC_000012.12:106687182:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(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 rs56006444

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

rs56006444