Name: rs57458344
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.

rs57458344

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:49606487-49606527 (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)₁₂ / del(CA)₁₀ / del(CA)₉ /…
del(CA)₁₂ / 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 / dup(CA)₇
Variation Type: Indel Insertion and Deletion
Frequency: dupCA=0.1708 (1642/9612, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FAM186B : 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	9612	ACACACACACACACACACACACACACACACACACACACACA=0.7569	ACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACA=0.0181, ACACACACACACACACACACACACACACACACACACACA=0.0196, ACACACACACACACACACACACACACACACACACACACACACA=0.1708, ACACACACACACACACACACACACACACACACACACACACACACA=0.0183, ACACACACACACACACACACACACACACACACACACACACACACACA=0.0158, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.0005, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000	0.747962	0.079856	0.172182	32
European	Sub	8456	ACACACACACACACACACACACACACACACACACACACACA=0.7237	ACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACA=0.0206, ACACACACACACACACACACACACACACACACACACACA=0.0222, ACACACACACACACACACACACACACACACACACACACACACA=0.1941, ACACACACACACACACACACACACACACACACACACACACACACA=0.0208, ACACACACACACACACACACACACACACACACACACACACACACACA=0.0180, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.0006, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000	0.707684	0.092706	0.19961	32
African	Sub	684	ACACACACACACACACACACACACACACACACACACACACA=1.000	ACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	38	ACACACACACACACACACACACACACACACACACACACACA=1.00	ACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
African American	Sub	646	ACACACACACACACACACACACACACACACACACACACACA=1.000	ACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	30	ACACACACACACACACACACACACACACACACACACACACA=1.00	ACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	20	ACACACACACACACACACACACACACACACACACACACACA=1.00	ACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	10	ACACACACACACACACACACACACACACACACACACACACA=1.0	ACACACACACACACACA=0.0, ACACACACACACACACACACA=0.0, ACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	42	ACACACACACACACACACACACACACACACACACACACACA=1.00	ACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	204	ACACACACACACACACACACACACACACACACACACACACA=1.000	ACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	36	ACACACACACACACACACACACACACACACACACACACACA=1.00	ACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other	Sub	160	ACACACACACACACACACACACACACACACACACACACACA=0.994	ACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.006, ACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000	0.9875	0.0	0.0125	0

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	9612	(AC)₂₀A=0.7569	del(CA)₁₂=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=0.0000, del(CA)₅=0.0000, del(CA)₄=0.0000, del(CA)₃=0.0000, delCACA=0.0181, delCA=0.0196, dupCA=0.1708, dupCACA=0.0183, dup(CA)₃=0.0158, dup(CA)₄=0.0005, dup(CA)₅=0.0000, dup(CA)₆=0.0000, dup(CA)₇=0.0000
Allele Frequency Aggregator	European	Sub	8456	(AC)₂₀A=0.7237	del(CA)₁₂=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=0.0000, del(CA)₅=0.0000, del(CA)₄=0.0000, del(CA)₃=0.0000, delCACA=0.0206, delCA=0.0222, dupCA=0.1941, dupCACA=0.0208, dup(CA)₃=0.0180, dup(CA)₄=0.0006, dup(CA)₅=0.0000, dup(CA)₆=0.0000, dup(CA)₇=0.0000
Allele Frequency Aggregator	African	Sub	684	(AC)₂₀A=1.000	del(CA)₁₂=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, dup(CA)₆=0.000, dup(CA)₇=0.000
Allele Frequency Aggregator	Latin American 2	Sub	204	(AC)₂₀A=1.000	del(CA)₁₂=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, dup(CA)₆=0.000, dup(CA)₇=0.000
Allele Frequency Aggregator	Other	Sub	160	(AC)₂₀A=0.994	del(CA)₁₂=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=0.006, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000, dup(CA)₅=0.000, dup(CA)₆=0.000, dup(CA)₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	42	(AC)₂₀A=1.00	del(CA)₁₂=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, dup(CA)₆=0.00, dup(CA)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	36	(AC)₂₀A=1.00	del(CA)₁₂=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, dup(CA)₆=0.00, dup(CA)₇=0.00
Allele Frequency Aggregator	Asian	Sub	30	(AC)₂₀A=1.00	del(CA)₁₂=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, dup(CA)₆=0.00, dup(CA)₇=0.00

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[8]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[10]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[11]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[12]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[13]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[14]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[15]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[16]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[17]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[18]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[19]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[21]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[22]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[23]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[24]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[25]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[26]
GRCh38.p14 chr 12	NC_000012.12:g.49606488CA[27]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[8]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[10]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[11]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[12]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[13]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[14]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[15]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[16]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[17]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[18]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[19]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[21]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[22]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[23]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[24]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[25]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[26]
GRCh37.p13 chr 12	NC_000012.11:g.50000271CA[27]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[8]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[10]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[11]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[12]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[13]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[14]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[15]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[16]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[17]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[18]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[19]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[21]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[22]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[23]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[24]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[25]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[26]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43271CA[27]

Gene: FAM186B, family with sequence similarity 186 member B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FAM186B transcript variant 1	NM_032130.3:c.	N/A	Genic Upstream Transcript Variant
FAM186B transcript variant 2	NR_027450.2:n.	N/A	Genic Upstream Transcript Variant
FAM186B transcript variant X5	XM_047429639.1:c.-174-198… XM_047429639.1:c.-174-1988GT[8]	N/A	Intron Variant
FAM186B transcript variant X6	XM_047429640.1:c.-174-198… XM_047429640.1:c.-174-1988GT[8]	N/A	Intron Variant
FAM186B transcript variant X1	XM_006719625.3:c.	N/A	Genic Upstream Transcript Variant
FAM186B transcript variant X3	XM_006719626.3:c.	N/A	Genic Upstream Transcript Variant
FAM186B transcript variant X4	XM_006719627.4:c.	N/A	Genic Upstream Transcript Variant
FAM186B transcript variant X2	XM_011538796.3:c.	N/A	Genic Upstream Transcript Variant
FAM186B transcript variant X7	XM_011538797.4:c.	N/A	Genic Upstream Transcript Variant
FAM186B transcript variant X8	XM_047429641.1:c.	N/A	Genic Upstream Transcript 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	(AC)₂₀A=	del(CA)₁₂	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	dup(CA)₇
GRCh38.p14 chr 12	NC_000012.12:g.49606487_49606527=	NC_000012.12:g.49606488CA[8]	NC_000012.12:g.49606488CA[10]	NC_000012.12:g.49606488CA[11]	NC_000012.12:g.49606488CA[12]	NC_000012.12:g.49606488CA[13]	NC_000012.12:g.49606488CA[14]	NC_000012.12:g.49606488CA[15]	NC_000012.12:g.49606488CA[16]	NC_000012.12:g.49606488CA[17]	NC_000012.12:g.49606488CA[18]	NC_000012.12:g.49606488CA[19]	NC_000012.12:g.49606488CA[21]	NC_000012.12:g.49606488CA[22]	NC_000012.12:g.49606488CA[23]	NC_000012.12:g.49606488CA[24]	NC_000012.12:g.49606488CA[25]	NC_000012.12:g.49606488CA[26]	NC_000012.12:g.49606488CA[27]
GRCh37.p13 chr 12	NC_000012.11:g.50000270_50000310=	NC_000012.11:g.50000271CA[8]	NC_000012.11:g.50000271CA[10]	NC_000012.11:g.50000271CA[11]	NC_000012.11:g.50000271CA[12]	NC_000012.11:g.50000271CA[13]	NC_000012.11:g.50000271CA[14]	NC_000012.11:g.50000271CA[15]	NC_000012.11:g.50000271CA[16]	NC_000012.11:g.50000271CA[17]	NC_000012.11:g.50000271CA[18]	NC_000012.11:g.50000271CA[19]	NC_000012.11:g.50000271CA[21]	NC_000012.11:g.50000271CA[22]	NC_000012.11:g.50000271CA[23]	NC_000012.11:g.50000271CA[24]	NC_000012.11:g.50000271CA[25]	NC_000012.11:g.50000271CA[26]	NC_000012.11:g.50000271CA[27]
PRPF40B RefSeqGene (LRG_625)	NG_032901.2:g.43270_43310=	NG_032901.2:g.43271CA[8]	NG_032901.2:g.43271CA[10]	NG_032901.2:g.43271CA[11]	NG_032901.2:g.43271CA[12]	NG_032901.2:g.43271CA[13]	NG_032901.2:g.43271CA[14]	NG_032901.2:g.43271CA[15]	NG_032901.2:g.43271CA[16]	NG_032901.2:g.43271CA[17]	NG_032901.2:g.43271CA[18]	NG_032901.2:g.43271CA[19]	NG_032901.2:g.43271CA[21]	NG_032901.2:g.43271CA[22]	NG_032901.2:g.43271CA[23]	NG_032901.2:g.43271CA[24]	NG_032901.2:g.43271CA[25]	NG_032901.2:g.43271CA[26]	NG_032901.2:g.43271CA[27]
FAM186B transcript variant X5	XM_047429639.1:c.-174-1949=	XM_047429639.1:c.-174-1988GT[8]	XM_047429639.1:c.-174-1988GT[10]	XM_047429639.1:c.-174-1988GT[11]	XM_047429639.1:c.-174-1988GT[12]	XM_047429639.1:c.-174-1988GT[13]	XM_047429639.1:c.-174-1988GT[14]	XM_047429639.1:c.-174-1988GT[15]	XM_047429639.1:c.-174-1988GT[16]	XM_047429639.1:c.-174-1988GT[17]	XM_047429639.1:c.-174-1988GT[18]	XM_047429639.1:c.-174-1988GT[19]	XM_047429639.1:c.-174-1988GT[21]	XM_047429639.1:c.-174-1988GT[22]	XM_047429639.1:c.-174-1988GT[23]	XM_047429639.1:c.-174-1988GT[24]	XM_047429639.1:c.-174-1988GT[25]	XM_047429639.1:c.-174-1988GT[26]	XM_047429639.1:c.-174-1988GT[27]
FAM186B transcript variant X6	XM_047429640.1:c.-174-1949=	XM_047429640.1:c.-174-1988GT[8]	XM_047429640.1:c.-174-1988GT[10]	XM_047429640.1:c.-174-1988GT[11]	XM_047429640.1:c.-174-1988GT[12]	XM_047429640.1:c.-174-1988GT[13]	XM_047429640.1:c.-174-1988GT[14]	XM_047429640.1:c.-174-1988GT[15]	XM_047429640.1:c.-174-1988GT[16]	XM_047429640.1:c.-174-1988GT[17]	XM_047429640.1:c.-174-1988GT[18]	XM_047429640.1:c.-174-1988GT[19]	XM_047429640.1:c.-174-1988GT[21]	XM_047429640.1:c.-174-1988GT[22]	XM_047429640.1:c.-174-1988GT[23]	XM_047429640.1:c.-174-1988GT[24]	XM_047429640.1:c.-174-1988GT[25]	XM_047429640.1:c.-174-1988GT[26]	XM_047429640.1:c.-174-1988GT[27]

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#.

72 SubSNP, 43 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80036971	Oct 12, 2018 (152)
2	HGSV	ss83123674	Dec 14, 2007 (129)
3	SSMP	ss664125109	Apr 01, 2015 (144)
4	DDI	ss1536726530	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1707461320	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1707461323	Oct 12, 2018 (152)
7	EVA_UK10K_TWINSUK	ss1707461345	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1707461347	Oct 12, 2018 (152)
9	EVA_UK10K_TWINSUK	ss1710558904	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1710558944	Apr 01, 2015 (144)
11	SWEGEN	ss3009665228	Nov 08, 2017 (151)
12	MCHAISSO	ss3063728969	Jan 10, 2018 (151)
13	MCHAISSO	ss3065475577	Jan 10, 2018 (151)
14	EVA_DECODE	ss3693643039	Jul 13, 2019 (153)
15	EVA_DECODE	ss3693643040	Jul 13, 2019 (153)
16	EVA_DECODE	ss3693643041	Jul 13, 2019 (153)
17	EVA_DECODE	ss3693643042	Jul 13, 2019 (153)
18	EVA_DECODE	ss3693643043	Jul 13, 2019 (153)
19	EVA_DECODE	ss3693643044	Jul 13, 2019 (153)
20	EVA	ss3833115909	Apr 27, 2020 (154)
21	EVA	ss3840128210	Apr 27, 2020 (154)
22	EVA	ss3845614504	Apr 27, 2020 (154)
23	KOGIC	ss3971901496	Apr 27, 2020 (154)
24	KOGIC	ss3971901497	Apr 27, 2020 (154)
25	KOGIC	ss3971901498	Apr 27, 2020 (154)
26	KOGIC	ss3971901499	Apr 27, 2020 (154)
27	KOGIC	ss3971901500	Apr 27, 2020 (154)
28	KOGIC	ss3971901501	Apr 27, 2020 (154)
29	GNOMAD	ss4251555803	Apr 26, 2021 (155)
30	GNOMAD	ss4251555804	Apr 26, 2021 (155)
31	GNOMAD	ss4251555805	Apr 26, 2021 (155)
32	GNOMAD	ss4251555806	Apr 26, 2021 (155)
33	GNOMAD	ss4251555807	Apr 26, 2021 (155)
34	GNOMAD	ss4251555808	Apr 26, 2021 (155)
35	GNOMAD	ss4251555809	Apr 26, 2021 (155)
36	GNOMAD	ss4251555812	Apr 26, 2021 (155)
37	GNOMAD	ss4251555813	Apr 26, 2021 (155)
38	GNOMAD	ss4251555814	Apr 26, 2021 (155)
39	GNOMAD	ss4251555815	Apr 26, 2021 (155)
40	GNOMAD	ss4251555816	Apr 26, 2021 (155)
41	GNOMAD	ss4251555817	Apr 26, 2021 (155)
42	GNOMAD	ss4251555818	Apr 26, 2021 (155)
43	GNOMAD	ss4251555819	Apr 26, 2021 (155)
44	GNOMAD	ss4251555820	Apr 26, 2021 (155)
45	GNOMAD	ss4251555821	Apr 26, 2021 (155)
46	GNOMAD	ss4251555822	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5206253476	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5206253477	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5206253478	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5206253479	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5206253480	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5206253481	Apr 26, 2021 (155)
53	1000G_HIGH_COVERAGE	ss5290760096	Oct 16, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5290760097	Oct 16, 2022 (156)
55	1000G_HIGH_COVERAGE	ss5290760098	Oct 16, 2022 (156)
56	1000G_HIGH_COVERAGE	ss5290760099	Oct 16, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5290760100	Oct 16, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5290760101	Oct 16, 2022 (156)
59	HUGCELL_USP	ss5485518589	Oct 16, 2022 (156)
60	HUGCELL_USP	ss5485518590	Oct 16, 2022 (156)
61	HUGCELL_USP	ss5485518591	Oct 16, 2022 (156)
62	HUGCELL_USP	ss5485518592	Oct 16, 2022 (156)
63	HUGCELL_USP	ss5485518593	Oct 16, 2022 (156)
64	HUGCELL_USP	ss5485518594	Oct 16, 2022 (156)
65	TOMMO_GENOMICS	ss5756021589	Oct 16, 2022 (156)
66	TOMMO_GENOMICS	ss5756021590	Oct 16, 2022 (156)
67	TOMMO_GENOMICS	ss5756021591	Oct 16, 2022 (156)
68	TOMMO_GENOMICS	ss5756021592	Oct 16, 2022 (156)
69	TOMMO_GENOMICS	ss5756021593	Oct 16, 2022 (156)
70	TOMMO_GENOMICS	ss5756021594	Oct 16, 2022 (156)
71	EVA	ss5837948288	Oct 16, 2022 (156)
72	EVA	ss5837948289	Oct 16, 2022 (156)
73	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32044950 (NC_000012.11:50000269::AC 1329/3854) Row 32044951 (NC_000012.11:50000269:AC: 549/3854) Row 32044953 (NC_000012.11:50000310::CACA 550/3854)	-	Oct 12, 2018 (152)
74	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32044950 (NC_000012.11:50000269::AC 1329/3854) Row 32044951 (NC_000012.11:50000269:AC: 549/3854) Row 32044953 (NC_000012.11:50000310::CACA 550/3854)	-	Oct 12, 2018 (152)
75	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32044950 (NC_000012.11:50000269::AC 1329/3854) Row 32044951 (NC_000012.11:50000269:AC: 549/3854) Row 32044953 (NC_000012.11:50000310::CACA 550/3854)	-	Oct 12, 2018 (152)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406927693 (NC_000012.12:49606486::AC 36862/124860) Row 406927694 (NC_000012.12:49606486::ACAC 11728/124952) Row 406927695 (NC_000012.12:49606486::ACACAC 2440/125098)...	-	Apr 26, 2021 (155)
94	Korean Genome Project Submission ignored due to conflicting rows: Row 28279497 (NC_000012.12:49606492::AC 404/1832) Row 28279498 (NC_000012.12:49606492::ACAC 143/1832) Row 28279499 (NC_000012.12:49606490:AC: 333/1832)...	-	Apr 27, 2020 (154)
95	Korean Genome Project Submission ignored due to conflicting rows: Row 28279497 (NC_000012.12:49606492::AC 404/1832) Row 28279498 (NC_000012.12:49606492::ACAC 143/1832) Row 28279499 (NC_000012.12:49606490:AC: 333/1832)...	-	Apr 27, 2020 (154)
96	Korean Genome Project Submission ignored due to conflicting rows: Row 28279497 (NC_000012.12:49606492::AC 404/1832) Row 28279498 (NC_000012.12:49606492::ACAC 143/1832) Row 28279499 (NC_000012.12:49606490:AC: 333/1832)...	-	Apr 27, 2020 (154)
97	Korean Genome Project Submission ignored due to conflicting rows: Row 28279497 (NC_000012.12:49606492::AC 404/1832) Row 28279498 (NC_000012.12:49606492::ACAC 143/1832) Row 28279499 (NC_000012.12:49606490:AC: 333/1832)...	-	Apr 27, 2020 (154)
98	Korean Genome Project Submission ignored due to conflicting rows: Row 28279497 (NC_000012.12:49606492::AC 404/1832) Row 28279498 (NC_000012.12:49606492::ACAC 143/1832) Row 28279499 (NC_000012.12:49606490:AC: 333/1832)...	-	Apr 27, 2020 (154)
99	Korean Genome Project Submission ignored due to conflicting rows: Row 28279497 (NC_000012.12:49606492::AC 404/1832) Row 28279498 (NC_000012.12:49606492::ACAC 143/1832) Row 28279499 (NC_000012.12:49606490:AC: 333/1832)...	-	Apr 27, 2020 (154)
100	8.3KJPN Submission ignored due to conflicting rows: Row 64222783 (NC_000012.11:50000269:AC: 2810/16756) Row 64222784 (NC_000012.11:50000269::AC 4131/16756) Row 64222785 (NC_000012.11:50000269::ACAC 1139/16756)...	-	Apr 26, 2021 (155)
101	8.3KJPN Submission ignored due to conflicting rows: Row 64222783 (NC_000012.11:50000269:AC: 2810/16756) Row 64222784 (NC_000012.11:50000269::AC 4131/16756) Row 64222785 (NC_000012.11:50000269::ACAC 1139/16756)...	-	Apr 26, 2021 (155)
102	8.3KJPN Submission ignored due to conflicting rows: Row 64222783 (NC_000012.11:50000269:AC: 2810/16756) Row 64222784 (NC_000012.11:50000269::AC 4131/16756) Row 64222785 (NC_000012.11:50000269::ACAC 1139/16756)...	-	Apr 26, 2021 (155)
103	8.3KJPN Submission ignored due to conflicting rows: Row 64222783 (NC_000012.11:50000269:AC: 2810/16756) Row 64222784 (NC_000012.11:50000269::AC 4131/16756) Row 64222785 (NC_000012.11:50000269::ACAC 1139/16756)...	-	Apr 26, 2021 (155)
104	8.3KJPN Submission ignored due to conflicting rows: Row 64222783 (NC_000012.11:50000269:AC: 2810/16756) Row 64222784 (NC_000012.11:50000269::AC 4131/16756) Row 64222785 (NC_000012.11:50000269::ACAC 1139/16756)...	-	Apr 26, 2021 (155)
105	8.3KJPN Submission ignored due to conflicting rows: Row 64222783 (NC_000012.11:50000269:AC: 2810/16756) Row 64222784 (NC_000012.11:50000269::AC 4131/16756) Row 64222785 (NC_000012.11:50000269::ACAC 1139/16756)...	-	Apr 26, 2021 (155)
106	14KJPN Submission ignored due to conflicting rows: Row 89858693 (NC_000012.12:49606486::ACAC 1807/28242) Row 89858694 (NC_000012.12:49606486::AC 6641/28242) Row 89858695 (NC_000012.12:49606486:AC: 4692/28242)...	-	Oct 16, 2022 (156)
107	14KJPN Submission ignored due to conflicting rows: Row 89858693 (NC_000012.12:49606486::ACAC 1807/28242) Row 89858694 (NC_000012.12:49606486::AC 6641/28242) Row 89858695 (NC_000012.12:49606486:AC: 4692/28242)...	-	Oct 16, 2022 (156)
108	14KJPN Submission ignored due to conflicting rows: Row 89858693 (NC_000012.12:49606486::ACAC 1807/28242) Row 89858694 (NC_000012.12:49606486::AC 6641/28242) Row 89858695 (NC_000012.12:49606486:AC: 4692/28242)...	-	Oct 16, 2022 (156)
109	14KJPN Submission ignored due to conflicting rows: Row 89858693 (NC_000012.12:49606486::ACAC 1807/28242) Row 89858694 (NC_000012.12:49606486::AC 6641/28242) Row 89858695 (NC_000012.12:49606486:AC: 4692/28242)...	-	Oct 16, 2022 (156)
110	14KJPN Submission ignored due to conflicting rows: Row 89858693 (NC_000012.12:49606486::ACAC 1807/28242) Row 89858694 (NC_000012.12:49606486::AC 6641/28242) Row 89858695 (NC_000012.12:49606486:AC: 4692/28242)...	-	Oct 16, 2022 (156)
111	14KJPN Submission ignored due to conflicting rows: Row 89858693 (NC_000012.12:49606486::ACAC 1807/28242) Row 89858694 (NC_000012.12:49606486::AC 6641/28242) Row 89858695 (NC_000012.12:49606486:AC: 4692/28242)...	-	Oct 16, 2022 (156)
112	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32044950 (NC_000012.11:50000269::AC 1318/3708) Row 32044951 (NC_000012.11:50000269:AC: 507/3708) Row 32044953 (NC_000012.11:50000310::CACA 515/3708)	-	Oct 12, 2018 (152)
113	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32044950 (NC_000012.11:50000269::AC 1318/3708) Row 32044951 (NC_000012.11:50000269:AC: 507/3708) Row 32044953 (NC_000012.11:50000310::CACA 515/3708)	-	Oct 12, 2018 (152)
114	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32044950 (NC_000012.11:50000269::AC 1318/3708) Row 32044951 (NC_000012.11:50000269:AC: 507/3708) Row 32044953 (NC_000012.11:50000310::CACA 515/3708)	-	Oct 12, 2018 (152)
115	ALFA	NC_000012.12 - 49606487	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
ss4251555822	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA	(self)
ss4251555821, ss5290760098, ss5485518593	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	(self)
ss4251555820	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA	(self)
ss4251555819	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
ss4251555818	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
ss4251555817	NC_000012.12:49606486:ACACACACACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
ss4251555816	NC_000012.12:49606486:ACACACACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	(self)
ss3693643044, ss4251555815	NC_000012.12:49606486:ACACACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA	(self)
ss5206253479	NC_000012.11:50000269:ACACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss3971901501, ss4251555814, ss5756021593	NC_000012.12:49606486:ACACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss3009665228, ss5206253480	NC_000012.11:50000269:ACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
ss4251555813, ss5290760101, ss5485518592, ss5756021594	NC_000012.12:49606486:ACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
ss3971901499	NC_000012.12:49606488:ACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
ss3693643043	NC_000012.12:49606490:ACAC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
ss83123674	NC_000012.9:48286575:CA:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss664125109, ss1707461320, ss1707461345, ss3840128210, ss5206253476, ss5837948289	NC_000012.11:50000269:AC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss3063728969, ss3065475577, ss3845614504, ss4251555812, ss5290760096, ss5485518589, ss5756021591	NC_000012.12:49606486:AC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss3971901498	NC_000012.12:49606490:AC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss3693643042	NC_000012.12:49606492:AC:	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss1536726530, ss5206253477, ss5837948288	NC_000012.11:50000269::AC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
ss1710558904, ss1710558944	NC_000012.11:50000271::AC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4251555803, ss5290760097, ss5485518590, ss5756021590	NC_000012.12:49606486::AC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3971901496	NC_000012.12:49606492::AC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3693643041	NC_000012.12:49606494::AC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3833115909, ss5206253478	NC_000012.11:50000269::ACAC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss1707461323, ss1707461347	NC_000012.11:50000310::CACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4251555804, ss5290760100, ss5485518591, ss5756021589	NC_000012.12:49606486::ACAC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3971901497	NC_000012.12:49606492::ACAC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3693643040	NC_000012.12:49606494::ACAC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss80036971	NT_029419.12:12143616::CACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss5206253481	NC_000012.11:50000269::ACACAC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4251555805, ss5290760099, ss5485518594, ss5756021592	NC_000012.12:49606486::ACACAC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3693643039	NC_000012.12:49606494::ACACAC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4251555806	NC_000012.12:49606486::ACACACAC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3971901500	NC_000012.12:49606492::ACACACAC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4251555807	NC_000012.12:49606486::ACACACACAC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4251555808	NC_000012.12:49606486::ACACACACACAC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4251555809	NC_000012.12:49606486::ACACACACACA… NC_000012.12:49606486::ACACACACACACAC	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
12264234466	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000012.12:49606486:ACACACACACAC… NC_000012.12:49606486:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(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 rs57458344

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs57458344