Name: rs57730300
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.

rs57730300

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chrX:71116254-71116276 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₄ / del(A)₁₂ / del(A)₁₁ / d…
del(A)₁₄ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₇ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₂ / dup(A)₁₃ / dup(A)₁₅ / dup(A)₁₆ / dup(A)₁₇
Variation Type: Indel Insertion and Deletion
Frequency: dupAA=0.0597 (542/9076, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	9076	AAAAAAAAAAAAAAAAAAAAAAA=0.9034	AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0006, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0022, AAAAAAAAAAAAAAAAAAAAAA=0.0201, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0597, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0059, AAAAAAAAAAAAAAAAAAAAAAAA=0.0082, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.92133	0.04074	0.03793	32
European	Sub	7928	AAAAAAAAAAAAAAAAAAAAAAA=0.8900	AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0006, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0025, AAAAAAAAAAAAAAAAAAAAAA=0.0230, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0681, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0066, AAAAAAAAAAAAAAAAAAAAAAAA=0.0092, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.909435	0.046769	0.043796	32
African	Sub	586	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	24	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	562	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	64	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	46	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	56	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	206	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	48	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	188	AAAAAAAAAAAAAAAAAAAAAAA=0.973	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.011, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.011, AAAAAAAAAAAAAAAAAAAAAAAA=0.005, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	0.98913	0.01087	0.0	32

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	9076	(A)₂₃=0.9034	del(A)₁₄=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0006, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0022, delA=0.0201, dupA=0.0082, dupAA=0.0597, dupAAA=0.0059, dup(A)₄=0.0000
Allele Frequency Aggregator	European	Sub	7928	(A)₂₃=0.8900	del(A)₁₄=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0006, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0025, delA=0.0230, dupA=0.0092, dupAA=0.0681, dupAAA=0.0066, dup(A)₄=0.0000
Allele Frequency Aggregator	African	Sub	586	(A)₂₃=1.000	del(A)₁₄=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	206	(A)₂₃=1.000	del(A)₁₄=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Other	Sub	188	(A)₂₃=0.973	del(A)₁₄=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.005, dupAA=0.011, dupAAA=0.011, dup(A)₄=0.000
Allele Frequency Aggregator	Asian	Sub	64	(A)₂₃=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	56	(A)₂₃=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	48	(A)₂₃=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=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 X	NC_000023.11:g.71116263_71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116265_71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116266_71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116267_71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116268_71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116269_71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116270_71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116271_71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116272_71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116273_71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116274_71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116275_71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116276del
GRCh38.p14 chr X	NC_000023.11:g.71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116275_71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116274_71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116273_71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116272_71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116270_71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116268_71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116267_71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116266_71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116265_71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116264_71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116262_71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116261_71116276dup
GRCh38.p14 chr X	NC_000023.11:g.71116260_71116276dup
GRCh37.p13 chr X	NC_000023.10:g.70336113_70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336115_70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336116_70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336117_70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336118_70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336119_70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336120_70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336121_70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336122_70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336123_70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336124_70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336125_70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336126del
GRCh37.p13 chr X	NC_000023.10:g.70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336125_70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336124_70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336123_70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336122_70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336120_70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336118_70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336117_70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336116_70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336115_70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336114_70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336112_70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336111_70336126dup
GRCh37.p13 chr X	NC_000023.10:g.70336110_70336126dup
MED12 RefSeqGene	NG_012808.1:g.2708_2721del
MED12 RefSeqGene	NG_012808.1:g.2710_2721del
MED12 RefSeqGene	NG_012808.1:g.2711_2721del
MED12 RefSeqGene	NG_012808.1:g.2712_2721del
MED12 RefSeqGene	NG_012808.1:g.2713_2721del
MED12 RefSeqGene	NG_012808.1:g.2714_2721del
MED12 RefSeqGene	NG_012808.1:g.2715_2721del
MED12 RefSeqGene	NG_012808.1:g.2716_2721del
MED12 RefSeqGene	NG_012808.1:g.2717_2721del
MED12 RefSeqGene	NG_012808.1:g.2718_2721del
MED12 RefSeqGene	NG_012808.1:g.2719_2721del
MED12 RefSeqGene	NG_012808.1:g.2720_2721del
MED12 RefSeqGene	NG_012808.1:g.2721del
MED12 RefSeqGene	NG_012808.1:g.2721dup
MED12 RefSeqGene	NG_012808.1:g.2720_2721dup
MED12 RefSeqGene	NG_012808.1:g.2719_2721dup
MED12 RefSeqGene	NG_012808.1:g.2718_2721dup
MED12 RefSeqGene	NG_012808.1:g.2717_2721dup
MED12 RefSeqGene	NG_012808.1:g.2715_2721dup
MED12 RefSeqGene	NG_012808.1:g.2713_2721dup
MED12 RefSeqGene	NG_012808.1:g.2712_2721dup
MED12 RefSeqGene	NG_012808.1:g.2711_2721dup
MED12 RefSeqGene	NG_012808.1:g.2710_2721dup
MED12 RefSeqGene	NG_012808.1:g.2709_2721dup
MED12 RefSeqGene	NG_012808.1:g.2707_2721dup
MED12 RefSeqGene	NG_012808.1:g.2706_2721dup
MED12 RefSeqGene	NG_012808.1:g.2705_2721dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.287_300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.289_300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.290_300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.291_300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.292_300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.293_300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.294_300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.295_300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.296_300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.297_300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.298_300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.299_300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.300del
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.299_300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.298_300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.297_300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.296_300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.294_300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.292_300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.291_300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.290_300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.289_300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.288_300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.286_300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.285_300dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.284_300dup

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

Not Reported in ClinVar

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

Placement	(A)₂₃=	del(A)₁₄	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₇	dup(A)₉	dup(A)₁₀	dup(A)₁₁	dup(A)₁₂	dup(A)₁₃	dup(A)₁₅	dup(A)₁₆	dup(A)₁₇
GRCh38.p14 chr X	NC_000023.11:g.71116254_71116276=	NC_000023.11:g.71116263_71116276del	NC_000023.11:g.71116265_71116276del	NC_000023.11:g.71116266_71116276del	NC_000023.11:g.71116267_71116276del	NC_000023.11:g.71116268_71116276del	NC_000023.11:g.71116269_71116276del	NC_000023.11:g.71116270_71116276del	NC_000023.11:g.71116271_71116276del	NC_000023.11:g.71116272_71116276del	NC_000023.11:g.71116273_71116276del	NC_000023.11:g.71116274_71116276del	NC_000023.11:g.71116275_71116276del	NC_000023.11:g.71116276del	NC_000023.11:g.71116276dup	NC_000023.11:g.71116275_71116276dup	NC_000023.11:g.71116274_71116276dup	NC_000023.11:g.71116273_71116276dup	NC_000023.11:g.71116272_71116276dup	NC_000023.11:g.71116270_71116276dup	NC_000023.11:g.71116268_71116276dup	NC_000023.11:g.71116267_71116276dup	NC_000023.11:g.71116266_71116276dup	NC_000023.11:g.71116265_71116276dup	NC_000023.11:g.71116264_71116276dup	NC_000023.11:g.71116262_71116276dup	NC_000023.11:g.71116261_71116276dup	NC_000023.11:g.71116260_71116276dup
GRCh37.p13 chr X	NC_000023.10:g.70336104_70336126=	NC_000023.10:g.70336113_70336126del	NC_000023.10:g.70336115_70336126del	NC_000023.10:g.70336116_70336126del	NC_000023.10:g.70336117_70336126del	NC_000023.10:g.70336118_70336126del	NC_000023.10:g.70336119_70336126del	NC_000023.10:g.70336120_70336126del	NC_000023.10:g.70336121_70336126del	NC_000023.10:g.70336122_70336126del	NC_000023.10:g.70336123_70336126del	NC_000023.10:g.70336124_70336126del	NC_000023.10:g.70336125_70336126del	NC_000023.10:g.70336126del	NC_000023.10:g.70336126dup	NC_000023.10:g.70336125_70336126dup	NC_000023.10:g.70336124_70336126dup	NC_000023.10:g.70336123_70336126dup	NC_000023.10:g.70336122_70336126dup	NC_000023.10:g.70336120_70336126dup	NC_000023.10:g.70336118_70336126dup	NC_000023.10:g.70336117_70336126dup	NC_000023.10:g.70336116_70336126dup	NC_000023.10:g.70336115_70336126dup	NC_000023.10:g.70336114_70336126dup	NC_000023.10:g.70336112_70336126dup	NC_000023.10:g.70336111_70336126dup	NC_000023.10:g.70336110_70336126dup
MED12 RefSeqGene	NG_012808.1:g.2699_2721=	NG_012808.1:g.2708_2721del	NG_012808.1:g.2710_2721del	NG_012808.1:g.2711_2721del	NG_012808.1:g.2712_2721del	NG_012808.1:g.2713_2721del	NG_012808.1:g.2714_2721del	NG_012808.1:g.2715_2721del	NG_012808.1:g.2716_2721del	NG_012808.1:g.2717_2721del	NG_012808.1:g.2718_2721del	NG_012808.1:g.2719_2721del	NG_012808.1:g.2720_2721del	NG_012808.1:g.2721del	NG_012808.1:g.2721dup	NG_012808.1:g.2720_2721dup	NG_012808.1:g.2719_2721dup	NG_012808.1:g.2718_2721dup	NG_012808.1:g.2717_2721dup	NG_012808.1:g.2715_2721dup	NG_012808.1:g.2713_2721dup	NG_012808.1:g.2712_2721dup	NG_012808.1:g.2711_2721dup	NG_012808.1:g.2710_2721dup	NG_012808.1:g.2709_2721dup	NG_012808.1:g.2707_2721dup	NG_012808.1:g.2706_2721dup	NG_012808.1:g.2705_2721dup
IL2RG RefSeqGene (LRG_150)	NG_009088.1:g.278_300=	NG_009088.1:g.287_300del	NG_009088.1:g.289_300del	NG_009088.1:g.290_300del	NG_009088.1:g.291_300del	NG_009088.1:g.292_300del	NG_009088.1:g.293_300del	NG_009088.1:g.294_300del	NG_009088.1:g.295_300del	NG_009088.1:g.296_300del	NG_009088.1:g.297_300del	NG_009088.1:g.298_300del	NG_009088.1:g.299_300del	NG_009088.1:g.300del	NG_009088.1:g.300dup	NG_009088.1:g.299_300dup	NG_009088.1:g.298_300dup	NG_009088.1:g.297_300dup	NG_009088.1:g.296_300dup	NG_009088.1:g.294_300dup	NG_009088.1:g.292_300dup	NG_009088.1:g.291_300dup	NG_009088.1:g.290_300dup	NG_009088.1:g.289_300dup	NG_009088.1:g.288_300dup	NG_009088.1:g.286_300dup	NG_009088.1:g.285_300dup	NG_009088.1:g.284_300dup

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#.

44 SubSNP, 36 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80024018	Dec 14, 2007 (129)
2	SWEGEN	ss3020119707	Nov 08, 2017 (151)
3	EVA	ss3836196603	Apr 27, 2020 (154)
4	GNOMAD	ss4373243891	Apr 27, 2021 (155)
5	GNOMAD	ss4373243892	Apr 27, 2021 (155)
6	GNOMAD	ss4373243893	Apr 27, 2021 (155)
7	GNOMAD	ss4373243894	Apr 27, 2021 (155)
8	GNOMAD	ss4373243895	Apr 27, 2021 (155)
9	GNOMAD	ss4373243896	Apr 27, 2021 (155)
10	GNOMAD	ss4373243897	Apr 27, 2021 (155)
11	GNOMAD	ss4373243898	Apr 27, 2021 (155)
12	GNOMAD	ss4373243899	Apr 27, 2021 (155)
13	GNOMAD	ss4373243900	Apr 27, 2021 (155)
14	GNOMAD	ss4373243901	Apr 27, 2021 (155)
15	GNOMAD	ss4373243902	Apr 27, 2021 (155)
16	GNOMAD	ss4373243903	Apr 27, 2021 (155)
17	GNOMAD	ss4373243904	Apr 27, 2021 (155)
18	GNOMAD	ss4373243905	Apr 27, 2021 (155)
19	GNOMAD	ss4373243906	Apr 27, 2021 (155)
20	GNOMAD	ss4373243907	Apr 27, 2021 (155)
21	GNOMAD	ss4373243908	Apr 27, 2021 (155)
22	GNOMAD	ss4373243909	Apr 27, 2021 (155)
23	GNOMAD	ss4373243910	Apr 27, 2021 (155)
24	GNOMAD	ss4373243911	Apr 27, 2021 (155)
25	GNOMAD	ss4373243912	Apr 27, 2021 (155)
26	GNOMAD	ss4373243913	Apr 27, 2021 (155)
27	TOMMO_GENOMICS	ss5234865992	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5234865993	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5234865994	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5234865995	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5234865996	Apr 27, 2021 (155)
32	TOMMO_GENOMICS	ss5234865997	Apr 27, 2021 (155)
33	1000G_HIGH_COVERAGE	ss5312837331	Oct 17, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5312837332	Oct 17, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5312837333	Oct 17, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5312837334	Oct 17, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5312837335	Oct 17, 2022 (156)
38	HUGCELL_USP	ss5504442632	Oct 17, 2022 (156)
39	HUGCELL_USP	ss5504442633	Oct 17, 2022 (156)
40	TOMMO_GENOMICS	ss5796812650	Oct 17, 2022 (156)
41	TOMMO_GENOMICS	ss5796812651	Oct 17, 2022 (156)
42	TOMMO_GENOMICS	ss5796812652	Oct 17, 2022 (156)
43	TOMMO_GENOMICS	ss5796812653	Oct 17, 2022 (156)
44	TOMMO_GENOMICS	ss5796812654	Oct 17, 2022 (156)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 583137983 (NC_000023.11:71116253::A 354/26106) Row 583137984 (NC_000023.11:71116253::AA 4977/26049) Row 583137985 (NC_000023.11:71116253::AAA 242/26117)...	-	Apr 27, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 92835299 (NC_000023.10:70336103:AA: 1195/12254) Row 92835300 (NC_000023.10:70336103:A: 991/12254) Row 92835301 (NC_000023.10:70336103::A 63/12254)...	-	Apr 27, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 92835299 (NC_000023.10:70336103:AA: 1195/12254) Row 92835300 (NC_000023.10:70336103:A: 991/12254) Row 92835301 (NC_000023.10:70336103::A 63/12254)...	-	Apr 27, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 92835299 (NC_000023.10:70336103:AA: 1195/12254) Row 92835300 (NC_000023.10:70336103:A: 991/12254) Row 92835301 (NC_000023.10:70336103::A 63/12254)...	-	Apr 27, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 92835299 (NC_000023.10:70336103:AA: 1195/12254) Row 92835300 (NC_000023.10:70336103:A: 991/12254) Row 92835301 (NC_000023.10:70336103::A 63/12254)...	-	Apr 27, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 92835299 (NC_000023.10:70336103:AA: 1195/12254) Row 92835300 (NC_000023.10:70336103:A: 991/12254) Row 92835301 (NC_000023.10:70336103::A 63/12254)...	-	Apr 27, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 92835299 (NC_000023.10:70336103:AA: 1195/12254) Row 92835300 (NC_000023.10:70336103:A: 991/12254) Row 92835301 (NC_000023.10:70336103::A 63/12254)...	-	Apr 27, 2021 (155)
75	14KJPN Submission ignored due to conflicting rows: Row 130649754 (NC_000023.11:71116253:AA: 2156/19741) Row 130649755 (NC_000023.11:71116253:A: 1691/19741) Row 130649756 (NC_000023.11:71116253::A 93/19741)...	-	Oct 17, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 130649754 (NC_000023.11:71116253:AA: 2156/19741) Row 130649755 (NC_000023.11:71116253:A: 1691/19741) Row 130649756 (NC_000023.11:71116253::A 93/19741)...	-	Oct 17, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 130649754 (NC_000023.11:71116253:AA: 2156/19741) Row 130649755 (NC_000023.11:71116253:A: 1691/19741) Row 130649756 (NC_000023.11:71116253::A 93/19741)...	-	Oct 17, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 130649754 (NC_000023.11:71116253:AA: 2156/19741) Row 130649755 (NC_000023.11:71116253:A: 1691/19741) Row 130649756 (NC_000023.11:71116253::A 93/19741)...	-	Oct 17, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 130649754 (NC_000023.11:71116253:AA: 2156/19741) Row 130649755 (NC_000023.11:71116253:A: 1691/19741) Row 130649756 (NC_000023.11:71116253::A 93/19741)...	-	Oct 17, 2022 (156)
80	ALFA	NC_000023.11 - 71116254	Apr 27, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4373243913	NC_000023.11:71116253:AAAAAAAAAAA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4373243912	NC_000023.11:71116253:AAAAAAAAAA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss5234865996	NC_000023.10:70336103:AAAAAAAAA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4373243911, ss5796812654	NC_000023.11:71116253:AAAAAAAAA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4373243910	NC_000023.11:71116253:AAAAAAAA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5234865995	NC_000023.10:70336103:AAAAAAA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4373243909, ss5796812653	NC_000023.11:71116253:AAAAAAA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4373243908	NC_000023.11:71116253:AAAAAA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3020119707	NC_000023.10:70336103:AAAAA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4373243907, ss5312837335	NC_000023.11:71116253:AAAAA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4373243906	NC_000023.11:71116253:AAA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5234865992	NC_000023.10:70336103:AA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243905, ss5312837331, ss5504442632, ss5796812650	NC_000023.11:71116253:AA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss80024018	NC_000023.8:70119146:A:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5234865993	NC_000023.10:70336103:A:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5504442633, ss5796812651	NC_000023.11:71116253:A:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5234865994	NC_000023.10:70336103::A	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243891, ss5312837334, ss5796812652	NC_000023.11:71116253::A	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3836196603	NC_000023.10:70336103::AA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243892, ss5312837332	NC_000023.11:71116253::AA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5234865997	NC_000023.10:70336103::AAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243893, ss5312837333	NC_000023.11:71116253::AAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243894	NC_000023.11:71116253::AAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
15040136867	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243895	NC_000023.11:71116253::AAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243896	NC_000023.11:71116253::AAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243897	NC_000023.11:71116253::AAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243898	NC_000023.11:71116253::AAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243899	NC_000023.11:71116253::AAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243900	NC_000023.11:71116253::AAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243901	NC_000023.11:71116253::AAAAAAAAAAA… NC_000023.11:71116253::AAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243902	NC_000023.11:71116253::AAAAAAAAAAA… NC_000023.11:71116253::AAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243903	NC_000023.11:71116253::AAAAAAAAAAA… NC_000023.11:71116253::AAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4373243904	NC_000023.11:71116253::AAAAAAAAAAA… NC_000023.11:71116253::AAAAAAAAAAAAAAAAA	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3613562757	NC_000023.11:71116253:AAAA:	NC_000023.11:71116253:AAAAAAAAAAAA… NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

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

No publications for rs57730300

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

rs57730300