Name: rs11330348
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.

rs11330348

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:390121-390144 (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)₁₃ / del(A)₁₂ / d…
del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / 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)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₃ / dup(A)₁₆ / dup(A)₂₃ / ins(A)₃₂ / ins(A)₅₀
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₄=0.00 (0/96, ALFA)
del(A)₁₃=0.00 (0/96, ALFA)
del(A)₁₂=0.00 (0/96, ALFA) (+ 14 more)
del(A)₁₀=0.00 (0/96, ALFA)
del(A)₉=0.00 (0/96, ALFA)
del(A)₈=0.00 (0/96, ALFA)
del(A)₇=0.00 (0/96, ALFA)
del(A)₆=0.00 (0/96, ALFA)
del(A)₅=0.00 (0/96, ALFA)
del(A)₄=0.00 (0/96, ALFA)
delAAA=0.00 (0/96, ALFA)
delAA=0.00 (0/96, ALFA)
delA=0.00 (0/96, ALFA)
dupA=0.00 (0/96, ALFA)
dupAA=0.00 (0/96, ALFA)
dupAAA=0.00 (0/96, ALFA)
dup(A)₅=0.00 (0/96, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CCDC77 : Intron Variant
KDM5A : 2KB Upstream Variant
LOC105369594 : Non Coding Transcript 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	96	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
European	Sub	22	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	64	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	60	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	6	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	96	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=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)₅=0.00
Allele Frequency Aggregator	African	Sub	64	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=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)₅=0.00
Allele Frequency Aggregator	European	Sub	22	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=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)₅=0.00
Allele Frequency Aggregator	Other	Sub	6	(A)₂₄=1.0	del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	Latin American 2	Sub	2	(A)₂₄=1.0	del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	Asian	Sub	2	(A)₂₄=1.0	del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₂₄=0	del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₅=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₄=0	del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₅=0

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 12	NC_000012.12:g.390131_390144del
GRCh38.p14 chr 12	NC_000012.12:g.390132_390144del
GRCh38.p14 chr 12	NC_000012.12:g.390133_390144del
GRCh38.p14 chr 12	NC_000012.12:g.390135_390144del
GRCh38.p14 chr 12	NC_000012.12:g.390136_390144del
GRCh38.p14 chr 12	NC_000012.12:g.390137_390144del
GRCh38.p14 chr 12	NC_000012.12:g.390138_390144del
GRCh38.p14 chr 12	NC_000012.12:g.390139_390144del
GRCh38.p14 chr 12	NC_000012.12:g.390140_390144del
GRCh38.p14 chr 12	NC_000012.12:g.390141_390144del
GRCh38.p14 chr 12	NC_000012.12:g.390142_390144del
GRCh38.p14 chr 12	NC_000012.12:g.390143_390144del
GRCh38.p14 chr 12	NC_000012.12:g.390144del
GRCh38.p14 chr 12	NC_000012.12:g.390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390143_390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390142_390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390141_390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390140_390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390139_390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390138_390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390137_390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390136_390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390135_390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390132_390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390129_390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390122_390144dup
GRCh38.p14 chr 12	NC_000012.12:g.390144_390145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 12	NC_000012.12:g.390144_390145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 12	NC_000012.11:g.499297_499310del
GRCh37.p13 chr 12	NC_000012.11:g.499298_499310del
GRCh37.p13 chr 12	NC_000012.11:g.499299_499310del
GRCh37.p13 chr 12	NC_000012.11:g.499301_499310del
GRCh37.p13 chr 12	NC_000012.11:g.499302_499310del
GRCh37.p13 chr 12	NC_000012.11:g.499303_499310del
GRCh37.p13 chr 12	NC_000012.11:g.499304_499310del
GRCh37.p13 chr 12	NC_000012.11:g.499305_499310del
GRCh37.p13 chr 12	NC_000012.11:g.499306_499310del
GRCh37.p13 chr 12	NC_000012.11:g.499307_499310del
GRCh37.p13 chr 12	NC_000012.11:g.499308_499310del
GRCh37.p13 chr 12	NC_000012.11:g.499309_499310del
GRCh37.p13 chr 12	NC_000012.11:g.499310del
GRCh37.p13 chr 12	NC_000012.11:g.499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499309_499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499308_499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499307_499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499306_499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499305_499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499304_499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499303_499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499302_499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499301_499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499298_499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499295_499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499288_499310dup
GRCh37.p13 chr 12	NC_000012.11:g.499310_499311insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 12	NC_000012.11:g.499310_499311insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
KDM5A RefSeqGene	NG_046993.1:g.4322_4335del
KDM5A RefSeqGene	NG_046993.1:g.4323_4335del
KDM5A RefSeqGene	NG_046993.1:g.4324_4335del
KDM5A RefSeqGene	NG_046993.1:g.4326_4335del
KDM5A RefSeqGene	NG_046993.1:g.4327_4335del
KDM5A RefSeqGene	NG_046993.1:g.4328_4335del
KDM5A RefSeqGene	NG_046993.1:g.4329_4335del
KDM5A RefSeqGene	NG_046993.1:g.4330_4335del
KDM5A RefSeqGene	NG_046993.1:g.4331_4335del
KDM5A RefSeqGene	NG_046993.1:g.4332_4335del
KDM5A RefSeqGene	NG_046993.1:g.4333_4335del
KDM5A RefSeqGene	NG_046993.1:g.4334_4335del
KDM5A RefSeqGene	NG_046993.1:g.4335del
KDM5A RefSeqGene	NG_046993.1:g.4335dup
KDM5A RefSeqGene	NG_046993.1:g.4334_4335dup
KDM5A RefSeqGene	NG_046993.1:g.4333_4335dup
KDM5A RefSeqGene	NG_046993.1:g.4332_4335dup
KDM5A RefSeqGene	NG_046993.1:g.4331_4335dup
KDM5A RefSeqGene	NG_046993.1:g.4330_4335dup
KDM5A RefSeqGene	NG_046993.1:g.4329_4335dup
KDM5A RefSeqGene	NG_046993.1:g.4328_4335dup
KDM5A RefSeqGene	NG_046993.1:g.4327_4335dup
KDM5A RefSeqGene	NG_046993.1:g.4326_4335dup
KDM5A RefSeqGene	NG_046993.1:g.4323_4335dup
KDM5A RefSeqGene	NG_046993.1:g.4320_4335dup
KDM5A RefSeqGene	NG_046993.1:g.4313_4335dup
KDM5A RefSeqGene	NG_046993.1:g.4335_4336insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
KDM5A RefSeqGene	NG_046993.1:g.4335_4336insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: CCDC77, coiled-coil domain containing 77 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CCDC77 transcript variant 3	NM_001130147.2:c.-113+645… NM_001130147.2:c.-113+645_-113+658del	N/A	Intron Variant
CCDC77 transcript variant 4	NM_001130148.2:c.-59+645_… NM_001130148.2:c.-59+645_-59+658del	N/A	Intron Variant
CCDC77 transcript variant 2	NM_001130146.2:c.	N/A	Genic Upstream Transcript Variant
CCDC77 transcript variant 1	NM_032358.4:c.	N/A	Genic Upstream Transcript Variant

Gene: KDM5A, lysine demethylase 5A (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
KDM5A transcript	NM_001042603.3:c.	N/A	Upstream Transcript Variant

Gene: LOC105369594, uncharacterized LOC105369594 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105369594 transcript	XR_007063149.1:n.1178_119… XR_007063149.1:n.1178_1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1179_119… XR_007063149.1:n.1179_1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1180_119… XR_007063149.1:n.1180_1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1182_119… XR_007063149.1:n.1182_1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1183_119… XR_007063149.1:n.1183_1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1184_119… XR_007063149.1:n.1184_1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1185_119… XR_007063149.1:n.1185_1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1186_119… XR_007063149.1:n.1186_1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1187_119… XR_007063149.1:n.1187_1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1188_119… XR_007063149.1:n.1188_1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1189_119… XR_007063149.1:n.1189_1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1190_119… XR_007063149.1:n.1190_1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1191del	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1190_119… XR_007063149.1:n.1190_1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1189_119… XR_007063149.1:n.1189_1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1188_119… XR_007063149.1:n.1188_1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1187_119… XR_007063149.1:n.1187_1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1186_119… XR_007063149.1:n.1186_1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1185_119… XR_007063149.1:n.1185_1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1184_119… XR_007063149.1:n.1184_1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1183_119… XR_007063149.1:n.1183_1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1182_119… XR_007063149.1:n.1182_1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1179_119… XR_007063149.1:n.1179_1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1176_119… XR_007063149.1:n.1176_1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1169_119… XR_007063149.1:n.1169_1191dup	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1191_119… XR_007063149.1:n.1191_1192insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	N/A	Non Coding Transcript Variant
LOC105369594 transcript	XR_007063149.1:n.1191_119… XR_007063149.1:n.1191_1192insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	N/A	Non Coding 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	(A)₂₄=	del(A)₁₄	del(A)₁₃	del(A)₁₂	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)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₃	dup(A)₁₆	dup(A)₂₃	ins(A)₃₂	ins(A)₅₀
GRCh38.p14 chr 12	NC_000012.12:g.390121_390144=	NC_000012.12:g.390131_390144del	NC_000012.12:g.390132_390144del	NC_000012.12:g.390133_390144del	NC_000012.12:g.390135_390144del	NC_000012.12:g.390136_390144del	NC_000012.12:g.390137_390144del	NC_000012.12:g.390138_390144del	NC_000012.12:g.390139_390144del	NC_000012.12:g.390140_390144del	NC_000012.12:g.390141_390144del	NC_000012.12:g.390142_390144del	NC_000012.12:g.390143_390144del	NC_000012.12:g.390144del	NC_000012.12:g.390144dup	NC_000012.12:g.390143_390144dup	NC_000012.12:g.390142_390144dup	NC_000012.12:g.390141_390144dup	NC_000012.12:g.390140_390144dup	NC_000012.12:g.390139_390144dup	NC_000012.12:g.390138_390144dup	NC_000012.12:g.390137_390144dup	NC_000012.12:g.390136_390144dup	NC_000012.12:g.390135_390144dup	NC_000012.12:g.390132_390144dup	NC_000012.12:g.390129_390144dup	NC_000012.12:g.390122_390144dup	NC_000012.12:g.390144_390145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:g.390144_390145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 12	NC_000012.11:g.499287_499310=	NC_000012.11:g.499297_499310del	NC_000012.11:g.499298_499310del	NC_000012.11:g.499299_499310del	NC_000012.11:g.499301_499310del	NC_000012.11:g.499302_499310del	NC_000012.11:g.499303_499310del	NC_000012.11:g.499304_499310del	NC_000012.11:g.499305_499310del	NC_000012.11:g.499306_499310del	NC_000012.11:g.499307_499310del	NC_000012.11:g.499308_499310del	NC_000012.11:g.499309_499310del	NC_000012.11:g.499310del	NC_000012.11:g.499310dup	NC_000012.11:g.499309_499310dup	NC_000012.11:g.499308_499310dup	NC_000012.11:g.499307_499310dup	NC_000012.11:g.499306_499310dup	NC_000012.11:g.499305_499310dup	NC_000012.11:g.499304_499310dup	NC_000012.11:g.499303_499310dup	NC_000012.11:g.499302_499310dup	NC_000012.11:g.499301_499310dup	NC_000012.11:g.499298_499310dup	NC_000012.11:g.499295_499310dup	NC_000012.11:g.499288_499310dup	NC_000012.11:g.499310_499311insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.11:g.499310_499311insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
KDM5A RefSeqGene	NG_046993.1:g.4312_4335=	NG_046993.1:g.4322_4335del	NG_046993.1:g.4323_4335del	NG_046993.1:g.4324_4335del	NG_046993.1:g.4326_4335del	NG_046993.1:g.4327_4335del	NG_046993.1:g.4328_4335del	NG_046993.1:g.4329_4335del	NG_046993.1:g.4330_4335del	NG_046993.1:g.4331_4335del	NG_046993.1:g.4332_4335del	NG_046993.1:g.4333_4335del	NG_046993.1:g.4334_4335del	NG_046993.1:g.4335del	NG_046993.1:g.4335dup	NG_046993.1:g.4334_4335dup	NG_046993.1:g.4333_4335dup	NG_046993.1:g.4332_4335dup	NG_046993.1:g.4331_4335dup	NG_046993.1:g.4330_4335dup	NG_046993.1:g.4329_4335dup	NG_046993.1:g.4328_4335dup	NG_046993.1:g.4327_4335dup	NG_046993.1:g.4326_4335dup	NG_046993.1:g.4323_4335dup	NG_046993.1:g.4320_4335dup	NG_046993.1:g.4313_4335dup	NG_046993.1:g.4335_4336insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_046993.1:g.4335_4336insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
LOC105369594 transcript	XR_007063149.1:n.1168_1191=	XR_007063149.1:n.1178_1191del	XR_007063149.1:n.1179_1191del	XR_007063149.1:n.1180_1191del	XR_007063149.1:n.1182_1191del	XR_007063149.1:n.1183_1191del	XR_007063149.1:n.1184_1191del	XR_007063149.1:n.1185_1191del	XR_007063149.1:n.1186_1191del	XR_007063149.1:n.1187_1191del	XR_007063149.1:n.1188_1191del	XR_007063149.1:n.1189_1191del	XR_007063149.1:n.1190_1191del	XR_007063149.1:n.1191del	XR_007063149.1:n.1191dup	XR_007063149.1:n.1190_1191dup	XR_007063149.1:n.1189_1191dup	XR_007063149.1:n.1188_1191dup	XR_007063149.1:n.1187_1191dup	XR_007063149.1:n.1186_1191dup	XR_007063149.1:n.1185_1191dup	XR_007063149.1:n.1184_1191dup	XR_007063149.1:n.1183_1191dup	XR_007063149.1:n.1182_1191dup	XR_007063149.1:n.1179_1191dup	XR_007063149.1:n.1176_1191dup	XR_007063149.1:n.1169_1191dup	XR_007063149.1:n.1191_1192insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XR_007063149.1:n.1191_1192insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
CCDC77 transcript variant 3	NM_001130147.1:c.-113+635=	NM_001130147.1:c.-113+645_-113+658del	NM_001130147.1:c.-113+646_-113+658del	NM_001130147.1:c.-113+647_-113+658del	NM_001130147.1:c.-113+649_-113+658del	NM_001130147.1:c.-113+650_-113+658del	NM_001130147.1:c.-113+651_-113+658del	NM_001130147.1:c.-113+652_-113+658del	NM_001130147.1:c.-113+653_-113+658del	NM_001130147.1:c.-113+654_-113+658del	NM_001130147.1:c.-113+655_-113+658del	NM_001130147.1:c.-113+656_-113+658del	NM_001130147.1:c.-113+657_-113+658del	NM_001130147.1:c.-113+658del	NM_001130147.1:c.-113+658dup	NM_001130147.1:c.-113+657_-113+658dup	NM_001130147.1:c.-113+656_-113+658dup	NM_001130147.1:c.-113+655_-113+658dup	NM_001130147.1:c.-113+654_-113+658dup	NM_001130147.1:c.-113+653_-113+658dup	NM_001130147.1:c.-113+652_-113+658dup	NM_001130147.1:c.-113+651_-113+658dup	NM_001130147.1:c.-113+650_-113+658dup	NM_001130147.1:c.-113+649_-113+658dup	NM_001130147.1:c.-113+646_-113+658dup	NM_001130147.1:c.-113+643_-113+658dup	NM_001130147.1:c.-113+636_-113+658dup	NM_001130147.1:c.-113+658_-113+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001130147.1:c.-113+658_-113+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
CCDC77 transcript variant 3	NM_001130147.2:c.-113+635=	NM_001130147.2:c.-113+645_-113+658del	NM_001130147.2:c.-113+646_-113+658del	NM_001130147.2:c.-113+647_-113+658del	NM_001130147.2:c.-113+649_-113+658del	NM_001130147.2:c.-113+650_-113+658del	NM_001130147.2:c.-113+651_-113+658del	NM_001130147.2:c.-113+652_-113+658del	NM_001130147.2:c.-113+653_-113+658del	NM_001130147.2:c.-113+654_-113+658del	NM_001130147.2:c.-113+655_-113+658del	NM_001130147.2:c.-113+656_-113+658del	NM_001130147.2:c.-113+657_-113+658del	NM_001130147.2:c.-113+658del	NM_001130147.2:c.-113+658dup	NM_001130147.2:c.-113+657_-113+658dup	NM_001130147.2:c.-113+656_-113+658dup	NM_001130147.2:c.-113+655_-113+658dup	NM_001130147.2:c.-113+654_-113+658dup	NM_001130147.2:c.-113+653_-113+658dup	NM_001130147.2:c.-113+652_-113+658dup	NM_001130147.2:c.-113+651_-113+658dup	NM_001130147.2:c.-113+650_-113+658dup	NM_001130147.2:c.-113+649_-113+658dup	NM_001130147.2:c.-113+646_-113+658dup	NM_001130147.2:c.-113+643_-113+658dup	NM_001130147.2:c.-113+636_-113+658dup	NM_001130147.2:c.-113+658_-113+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001130147.2:c.-113+658_-113+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
CCDC77 transcript variant 4	NM_001130148.1:c.-59+635=	NM_001130148.1:c.-59+645_-59+658del	NM_001130148.1:c.-59+646_-59+658del	NM_001130148.1:c.-59+647_-59+658del	NM_001130148.1:c.-59+649_-59+658del	NM_001130148.1:c.-59+650_-59+658del	NM_001130148.1:c.-59+651_-59+658del	NM_001130148.1:c.-59+652_-59+658del	NM_001130148.1:c.-59+653_-59+658del	NM_001130148.1:c.-59+654_-59+658del	NM_001130148.1:c.-59+655_-59+658del	NM_001130148.1:c.-59+656_-59+658del	NM_001130148.1:c.-59+657_-59+658del	NM_001130148.1:c.-59+658del	NM_001130148.1:c.-59+658dup	NM_001130148.1:c.-59+657_-59+658dup	NM_001130148.1:c.-59+656_-59+658dup	NM_001130148.1:c.-59+655_-59+658dup	NM_001130148.1:c.-59+654_-59+658dup	NM_001130148.1:c.-59+653_-59+658dup	NM_001130148.1:c.-59+652_-59+658dup	NM_001130148.1:c.-59+651_-59+658dup	NM_001130148.1:c.-59+650_-59+658dup	NM_001130148.1:c.-59+649_-59+658dup	NM_001130148.1:c.-59+646_-59+658dup	NM_001130148.1:c.-59+643_-59+658dup	NM_001130148.1:c.-59+636_-59+658dup	NM_001130148.1:c.-59+658_-59+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001130148.1:c.-59+658_-59+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
CCDC77 transcript variant 4	NM_001130148.2:c.-59+635=	NM_001130148.2:c.-59+645_-59+658del	NM_001130148.2:c.-59+646_-59+658del	NM_001130148.2:c.-59+647_-59+658del	NM_001130148.2:c.-59+649_-59+658del	NM_001130148.2:c.-59+650_-59+658del	NM_001130148.2:c.-59+651_-59+658del	NM_001130148.2:c.-59+652_-59+658del	NM_001130148.2:c.-59+653_-59+658del	NM_001130148.2:c.-59+654_-59+658del	NM_001130148.2:c.-59+655_-59+658del	NM_001130148.2:c.-59+656_-59+658del	NM_001130148.2:c.-59+657_-59+658del	NM_001130148.2:c.-59+658del	NM_001130148.2:c.-59+658dup	NM_001130148.2:c.-59+657_-59+658dup	NM_001130148.2:c.-59+656_-59+658dup	NM_001130148.2:c.-59+655_-59+658dup	NM_001130148.2:c.-59+654_-59+658dup	NM_001130148.2:c.-59+653_-59+658dup	NM_001130148.2:c.-59+652_-59+658dup	NM_001130148.2:c.-59+651_-59+658dup	NM_001130148.2:c.-59+650_-59+658dup	NM_001130148.2:c.-59+649_-59+658dup	NM_001130148.2:c.-59+646_-59+658dup	NM_001130148.2:c.-59+643_-59+658dup	NM_001130148.2:c.-59+636_-59+658dup	NM_001130148.2:c.-59+658_-59+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001130148.2:c.-59+658_-59+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

61 SubSNP, 34 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80257274	Dec 15, 2007 (130)
2	HGSV	ss83824512	Dec 15, 2007 (130)
3	HUMANGENOME_JCVI	ss95585207	Dec 05, 2013 (144)
4	GMI	ss289106210	May 04, 2012 (137)
5	PJP	ss294731386	May 09, 2011 (137)
6	PJP	ss294731387	May 09, 2011 (134)
7	SWEGEN	ss3009068018	Nov 08, 2017 (151)
8	MCHAISSO	ss3063714809	Nov 08, 2017 (151)
9	MCHAISSO	ss3064541976	Nov 08, 2017 (151)
10	MCHAISSO	ss3065457968	Nov 08, 2017 (151)
11	URBANLAB	ss3649744328	Oct 12, 2018 (152)
12	EVA_DECODE	ss3692950533	Jul 13, 2019 (153)
13	EVA_DECODE	ss3692950534	Jul 13, 2019 (153)
14	EVA_DECODE	ss3692950535	Jul 13, 2019 (153)
15	EVA_DECODE	ss3692950536	Jul 13, 2019 (153)
16	EVA_DECODE	ss3692950537	Jul 13, 2019 (153)
17	EVA_DECODE	ss3692950538	Jul 13, 2019 (153)
18	ACPOP	ss3738696855	Jul 13, 2019 (153)
19	ACPOP	ss3738696856	Jul 13, 2019 (153)
20	PACBIO	ss3792233870	Jul 13, 2019 (153)
21	PACBIO	ss3797116670	Jul 13, 2019 (153)
22	EVA	ss3832930303	Apr 26, 2020 (154)
23	GNOMAD	ss4245606896	Apr 26, 2021 (155)
24	GNOMAD	ss4245606897	Apr 26, 2021 (155)
25	GNOMAD	ss4245606898	Apr 26, 2021 (155)
26	GNOMAD	ss4245606899	Apr 26, 2021 (155)
27	GNOMAD	ss4245606900	Apr 26, 2021 (155)
28	GNOMAD	ss4245606901	Apr 26, 2021 (155)
29	GNOMAD	ss4245606902	Apr 26, 2021 (155)
30	GNOMAD	ss4245606903	Apr 26, 2021 (155)
31	GNOMAD	ss4245606904	Apr 26, 2021 (155)
32	GNOMAD	ss4245606905	Apr 26, 2021 (155)
33	GNOMAD	ss4245606906	Apr 26, 2021 (155)
34	GNOMAD	ss4245606907	Apr 26, 2021 (155)
35	GNOMAD	ss4245606908	Apr 26, 2021 (155)
36	GNOMAD	ss4245606909	Apr 26, 2021 (155)
37	GNOMAD	ss4245606910	Apr 26, 2021 (155)
38	GNOMAD	ss4245606911	Apr 26, 2021 (155)
39	GNOMAD	ss4245606912	Apr 26, 2021 (155)
40	GNOMAD	ss4245606913	Apr 26, 2021 (155)
41	GNOMAD	ss4245606914	Apr 26, 2021 (155)
42	GNOMAD	ss4245606915	Apr 26, 2021 (155)
43	GNOMAD	ss4245606916	Apr 26, 2021 (155)
44	GNOMAD	ss4245606917	Apr 26, 2021 (155)
45	GNOMAD	ss4245606918	Apr 26, 2021 (155)
46	GNOMAD	ss4245606919	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5204690772	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5204690773	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5204690774	Apr 26, 2021 (155)
50	1000G_HIGH_COVERAGE	ss5289520929	Oct 16, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5289520930	Oct 16, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5289520931	Oct 16, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5289520932	Oct 16, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5289520933	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5484445626	Oct 16, 2022 (156)
56	HUGCELL_USP	ss5484445627	Oct 16, 2022 (156)
57	HUGCELL_USP	ss5484445628	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5753370209	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5753370210	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5753370211	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5753370212	Oct 16, 2022 (156)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 397008965 (NC_000012.12:390120::A 1265/67892) Row 397008966 (NC_000012.12:390120::AA 16/68038) Row 397008967 (NC_000012.12:390120::AAA 8/68032)...	-	Apr 26, 2021 (155)
86	Northern Sweden Submission ignored due to conflicting rows: Row 11981720 (NC_000012.11:499286:A: 335/558) Row 11981721 (NC_000012.11:499286::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA 2/558)	-	Jul 13, 2019 (153)
87	Northern Sweden Submission ignored due to conflicting rows: Row 11981720 (NC_000012.11:499286:A: 335/558) Row 11981721 (NC_000012.11:499286::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA 2/558)	-	Jul 13, 2019 (153)
88	8.3KJPN Submission ignored due to conflicting rows: Row 62660079 (NC_000012.11:499286:A: 10536/14834) Row 62660080 (NC_000012.11:499286:AA: 15/14834) Row 62660081 (NC_000012.11:499286:AAAAAAAA: 11/14834)	-	Apr 26, 2021 (155)
89	8.3KJPN Submission ignored due to conflicting rows: Row 62660079 (NC_000012.11:499286:A: 10536/14834) Row 62660080 (NC_000012.11:499286:AA: 15/14834) Row 62660081 (NC_000012.11:499286:AAAAAAAA: 11/14834)	-	Apr 26, 2021 (155)
90	8.3KJPN Submission ignored due to conflicting rows: Row 62660079 (NC_000012.11:499286:A: 10536/14834) Row 62660080 (NC_000012.11:499286:AA: 15/14834) Row 62660081 (NC_000012.11:499286:AAAAAAAA: 11/14834)	-	Apr 26, 2021 (155)
91	14KJPN Submission ignored due to conflicting rows: Row 87207313 (NC_000012.12:390120:A: 21063/27742) Row 87207314 (NC_000012.12:390120:AAAAAAAA: 22/27742) Row 87207315 (NC_000012.12:390120:AA: 17/27742)...	-	Oct 16, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 87207313 (NC_000012.12:390120:A: 21063/27742) Row 87207314 (NC_000012.12:390120:AAAAAAAA: 22/27742) Row 87207315 (NC_000012.12:390120:AA: 17/27742)...	-	Oct 16, 2022 (156)
93	14KJPN Submission ignored due to conflicting rows: Row 87207313 (NC_000012.12:390120:A: 21063/27742) Row 87207314 (NC_000012.12:390120:AAAAAAAA: 22/27742) Row 87207315 (NC_000012.12:390120:AA: 17/27742)...	-	Oct 16, 2022 (156)
94	14KJPN Submission ignored due to conflicting rows: Row 87207313 (NC_000012.12:390120:A: 21063/27742) Row 87207314 (NC_000012.12:390120:AAAAAAAA: 22/27742) Row 87207315 (NC_000012.12:390120:AA: 17/27742)...	-	Oct 16, 2022 (156)
95	ALFA	NC_000012.12 - 390121	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).

Associated ID	History Updated (Build)
rs59516244	May 25, 2008 (130)
rs139831142	May 11, 2012 (137)
rs398018192	Jul 01, 2015 (144)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4245606919	NC_000012.12:390120:AAAAAAAAAAAAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4245606918	NC_000012.12:390120:AAAAAAAAAAAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4245606917, ss5289520933	NC_000012.12:390120:AAAAAAAAAAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4245606916	NC_000012.12:390120:AAAAAAAAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3009068018	NC_000012.11:499286:AAAAAAAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4245606915	NC_000012.12:390120:AAAAAAAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5204690774	NC_000012.11:499286:AAAAAAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4245606914, ss5289520930, ss5484445628, ss5753370210	NC_000012.12:390120:AAAAAAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4245606913, ss5289520931	NC_000012.12:390120:AAAAAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4245606912	NC_000012.12:390120:AAAAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3692950538, ss4245606911	NC_000012.12:390120:AAAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3692950537	NC_000012.12:390121:AAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3692950536	NC_000012.12:390122:AAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5204690773	NC_000012.11:499286:AA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606910, ss5289520932, ss5753370211	NC_000012.12:390120:AA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3692950535	NC_000012.12:390123:AA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss80257274, ss83824512	NC_000012.9:369570:A:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss289106210, ss294731386	NC_000012.10:369547:A:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss294731387	NC_000012.10:369570:A:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3738696855, ss3792233870, ss3797116670, ss3832930303, ss5204690772	NC_000012.11:499286:A:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3063714809, ss3064541976, ss3065457968, ss3649744328, ss5484445626, ss5753370209	NC_000012.12:390120:A:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3692950534	NC_000012.12:390124:A:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95585207	NT_009759.16:439309:A:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606896, ss5289520929, ss5484445627, ss5753370212	NC_000012.12:390120::A	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3692950533	NC_000012.12:390125::A	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606897	NC_000012.12:390120::AA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606898	NC_000012.12:390120::AAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606899	NC_000012.12:390120::AAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606900	NC_000012.12:390120::AAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7608608222	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606901	NC_000012.12:390120::AAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606902	NC_000012.12:390120::AAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606903	NC_000012.12:390120::AAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606904	NC_000012.12:390120::AAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606905	NC_000012.12:390120::AAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606906	NC_000012.12:390120::AAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606907	NC_000012.12:390120::AAAAAAAAAAAAA… NC_000012.12:390120::AAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606908	NC_000012.12:390120::AAAAAAAAAAAAA… NC_000012.12:390120::AAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4245606909	NC_000012.12:390120::AAAAAAAAAAAAA… NC_000012.12:390120::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3738696856	NC_000012.11:499286::AAAAAAAAAAAAA… NC_000012.11:499286::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3160921214	NC_000012.12:390120:AAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
ss3160921215	NC_000012.12:390120:AAAA:	NC_000012.12:390120:AAAAAAAAAAAAAA… NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

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

No publications for rs11330348

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

rs11330348