Name: rs11404431
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.

rs11404431

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:31974280-31974298 (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)₅ / del(A)₄ / delAAA / delAA…
del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₅ / dup(A)₉ / dup(A)₁₁
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.3606 (1806/5008, 1000G)
del(A)₄=0.0000 (0/1674, ALFA)
delAAA=0.0000 (0/1674, ALFA) (+ 6 more)
delAA=0.0000 (0/1674, ALFA)
delA=0.0000 (0/1674, ALFA)
dupA=0.0000 (0/1674, ALFA)
dupAA=0.0000 (0/1674, ALFA)
dupAAA=0.0000 (0/1674, ALFA)
dup(A)₅=0.0000 (0/1674, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: STK19 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	1674	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	1222	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	322	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	6	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
African American	Sub	316	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	14	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	8	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Other Asian	Sub	6	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	10	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 2	Sub	48	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
South Asian	Sub	6	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Other	Sub	52	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	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
1000Genomes	Global	Study-wide	5008	(A)₁₉=0.6394	delA=0.3606
1000Genomes	African	Sub	1322	(A)₁₉=0.5159	delA=0.4841
1000Genomes	East Asian	Sub	1008	(A)₁₉=0.7421	delA=0.2579
1000Genomes	Europe	Sub	1006	(A)₁₉=0.6938	delA=0.3062
1000Genomes	South Asian	Sub	978	(A)₁₉=0.588	delA=0.412
1000Genomes	American	Sub	694	(A)₁₉=0.719	delA=0.281
Allele Frequency Aggregator	Total	Global	1674	(A)₁₉=1.0000	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	1222	(A)₁₉=1.0000	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	322	(A)₁₉=1.000	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)₅=0.000
Allele Frequency Aggregator	Other	Sub	52	(A)₁₉=1.00	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	Latin American 2	Sub	48	(A)₁₉=1.00	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	Asian	Sub	14	(A)₁₉=1.00	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	Latin American 1	Sub	10	(A)₁₉=1.0	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	South Asian	Sub	6	(A)₁₉=1.0	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

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 6	NC_000006.12:g.31974294_31974298del
GRCh38.p14 chr 6	NC_000006.12:g.31974295_31974298del
GRCh38.p14 chr 6	NC_000006.12:g.31974296_31974298del
GRCh38.p14 chr 6	NC_000006.12:g.31974297_31974298del
GRCh38.p14 chr 6	NC_000006.12:g.31974298del
GRCh38.p14 chr 6	NC_000006.12:g.31974298dup
GRCh38.p14 chr 6	NC_000006.12:g.31974297_31974298dup
GRCh38.p14 chr 6	NC_000006.12:g.31974296_31974298dup
GRCh38.p14 chr 6	NC_000006.12:g.31974294_31974298dup
GRCh38.p14 chr 6	NC_000006.12:g.31974290_31974298dup
GRCh38.p14 chr 6	NC_000006.12:g.31974288_31974298dup
GRCh37.p13 chr 6	NC_000006.11:g.31942071_31942075del
GRCh37.p13 chr 6	NC_000006.11:g.31942072_31942075del
GRCh37.p13 chr 6	NC_000006.11:g.31942073_31942075del
GRCh37.p13 chr 6	NC_000006.11:g.31942074_31942075del
GRCh37.p13 chr 6	NC_000006.11:g.31942075del
GRCh37.p13 chr 6	NC_000006.11:g.31942075dup
GRCh37.p13 chr 6	NC_000006.11:g.31942074_31942075dup
GRCh37.p13 chr 6	NC_000006.11:g.31942073_31942075dup
GRCh37.p13 chr 6	NC_000006.11:g.31942071_31942075dup
GRCh37.p13 chr 6	NC_000006.11:g.31942067_31942075dup
GRCh37.p13 chr 6	NC_000006.11:g.31942065_31942075dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3451721_3451725del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3451722_3451725del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3451723_3451725del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3451724_3451725del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3451725del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3451725dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3451724_3451725dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3451723_3451725dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3451721_3451725dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3451717_3451725dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3451715_3451725dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3451827_3451831del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3451828_3451831del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3451829_3451831del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3451830_3451831del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3451831del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3451831dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3451830_3451831dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3451829_3451831dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3451827_3451831dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3451823_3451831dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3451821_3451831dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3230264_3230268del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3230265_3230268del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3230266_3230268del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3230267_3230268del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3230268del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3230268dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3230267_3230268dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3230266_3230268dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3230264_3230268dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3230260_3230268dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3230258_3230268dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3235860_3235864del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3235861_3235864del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3235862_3235864del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3235863_3235864del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3235864del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3235864dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3235863_3235864dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3235862_3235864dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3235860_3235864dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3235856_3235864dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3235854_3235864dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3222072dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3222069_3222072del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3222070_3222072del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3222071_3222072del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3222072del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3222071_3222072dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3222070_3222072dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3222069_3222072dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3222067_3222072dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3222063_3222072dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3222061_3222072dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3275484_3275488del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3275485_3275488del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3275486_3275488del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3275487_3275488del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3275488del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3275488dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3275487_3275488dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3275486_3275488dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3275484_3275488dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3275480_3275488dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3275478_3275488dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3274782_3274786del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3274783_3274786del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3274784_3274786del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3274785_3274786del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3274786del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3274786dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3274785_3274786dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3274784_3274786dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3274782_3274786dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3274778_3274786dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3274776_3274786dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3316331_3316335del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3316332_3316335del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3316333_3316335del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3316334_3316335del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3316335del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3316335dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3316334_3316335dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3316333_3316335dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3316331_3316335dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3316327_3316335dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3316325_3316335dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3321916_3321920del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3321917_3321920del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3321918_3321920del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3321919_3321920del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3321920del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3321920dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3321919_3321920dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3321918_3321920dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3321916_3321920dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3321912_3321920dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3321910_3321920dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3227657dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3227654_3227657del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3227655_3227657del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3227656_3227657del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3227657del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3227656_3227657dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3227655_3227657dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3227654_3227657dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3227652_3227657dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3227648_3227657dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3227646_3227657dup

Gene: STK19, serine/threonine kinase 19 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
STK19 transcript variant 1	NM_004197.2:c.237+1537_23… NM_004197.2:c.237+1537_237+1541del	N/A	Intron Variant
STK19 transcript variant 2	NM_032454.1:c.567+1537_56… NM_032454.1:c.567+1537_567+1541del	N/A	Intron Variant
STK19 transcript variant 3	NR_026717.1:n.	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(A)₁₉=	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₅	dup(A)₉	dup(A)₁₁
GRCh38.p14 chr 6	NC_000006.12:g.31974280_31974298=	NC_000006.12:g.31974294_31974298del	NC_000006.12:g.31974295_31974298del	NC_000006.12:g.31974296_31974298del	NC_000006.12:g.31974297_31974298del	NC_000006.12:g.31974298del	NC_000006.12:g.31974298dup	NC_000006.12:g.31974297_31974298dup	NC_000006.12:g.31974296_31974298dup	NC_000006.12:g.31974294_31974298dup	NC_000006.12:g.31974290_31974298dup	NC_000006.12:g.31974288_31974298dup
GRCh37.p13 chr 6	NC_000006.11:g.31942057_31942075=	NC_000006.11:g.31942071_31942075del	NC_000006.11:g.31942072_31942075del	NC_000006.11:g.31942073_31942075del	NC_000006.11:g.31942074_31942075del	NC_000006.11:g.31942075del	NC_000006.11:g.31942075dup	NC_000006.11:g.31942074_31942075dup	NC_000006.11:g.31942073_31942075dup	NC_000006.11:g.31942071_31942075dup	NC_000006.11:g.31942067_31942075dup	NC_000006.11:g.31942065_31942075dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3451707_3451725=	NT_113891.3:g.3451721_3451725del	NT_113891.3:g.3451722_3451725del	NT_113891.3:g.3451723_3451725del	NT_113891.3:g.3451724_3451725del	NT_113891.3:g.3451725del	NT_113891.3:g.3451725dup	NT_113891.3:g.3451724_3451725dup	NT_113891.3:g.3451723_3451725dup	NT_113891.3:g.3451721_3451725dup	NT_113891.3:g.3451717_3451725dup	NT_113891.3:g.3451715_3451725dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3451813_3451831=	NT_113891.2:g.3451827_3451831del	NT_113891.2:g.3451828_3451831del	NT_113891.2:g.3451829_3451831del	NT_113891.2:g.3451830_3451831del	NT_113891.2:g.3451831del	NT_113891.2:g.3451831dup	NT_113891.2:g.3451830_3451831dup	NT_113891.2:g.3451829_3451831dup	NT_113891.2:g.3451827_3451831dup	NT_113891.2:g.3451823_3451831dup	NT_113891.2:g.3451821_3451831dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3230250_3230268=	NT_167248.2:g.3230264_3230268del	NT_167248.2:g.3230265_3230268del	NT_167248.2:g.3230266_3230268del	NT_167248.2:g.3230267_3230268del	NT_167248.2:g.3230268del	NT_167248.2:g.3230268dup	NT_167248.2:g.3230267_3230268dup	NT_167248.2:g.3230266_3230268dup	NT_167248.2:g.3230264_3230268dup	NT_167248.2:g.3230260_3230268dup	NT_167248.2:g.3230258_3230268dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3235846_3235864=	NT_167248.1:g.3235860_3235864del	NT_167248.1:g.3235861_3235864del	NT_167248.1:g.3235862_3235864del	NT_167248.1:g.3235863_3235864del	NT_167248.1:g.3235864del	NT_167248.1:g.3235864dup	NT_167248.1:g.3235863_3235864dup	NT_167248.1:g.3235862_3235864dup	NT_167248.1:g.3235860_3235864dup	NT_167248.1:g.3235856_3235864dup	NT_167248.1:g.3235854_3235864dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3222072dup	NT_167245.2:g.3222069_3222072del	NT_167245.2:g.3222070_3222072del	NT_167245.2:g.3222071_3222072del	NT_167245.2:g.3222072del	NT_167245.2:g.3222055_3222072=	NT_167245.2:g.3222071_3222072dup	NT_167245.2:g.3222070_3222072dup	NT_167245.2:g.3222069_3222072dup	NT_167245.2:g.3222067_3222072dup	NT_167245.2:g.3222063_3222072dup	NT_167245.2:g.3222061_3222072dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3275469_3275488=	NT_167249.2:g.3275484_3275488del	NT_167249.2:g.3275485_3275488del	NT_167249.2:g.3275486_3275488del	NT_167249.2:g.3275487_3275488del	NT_167249.2:g.3275488del	NT_167249.2:g.3275488dup	NT_167249.2:g.3275487_3275488dup	NT_167249.2:g.3275486_3275488dup	NT_167249.2:g.3275484_3275488dup	NT_167249.2:g.3275480_3275488dup	NT_167249.2:g.3275478_3275488dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3274767_3274786=	NT_167249.1:g.3274782_3274786del	NT_167249.1:g.3274783_3274786del	NT_167249.1:g.3274784_3274786del	NT_167249.1:g.3274785_3274786del	NT_167249.1:g.3274786del	NT_167249.1:g.3274786dup	NT_167249.1:g.3274785_3274786dup	NT_167249.1:g.3274784_3274786dup	NT_167249.1:g.3274782_3274786dup	NT_167249.1:g.3274778_3274786dup	NT_167249.1:g.3274776_3274786dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3316316_3316335=	NT_167247.2:g.3316331_3316335del	NT_167247.2:g.3316332_3316335del	NT_167247.2:g.3316333_3316335del	NT_167247.2:g.3316334_3316335del	NT_167247.2:g.3316335del	NT_167247.2:g.3316335dup	NT_167247.2:g.3316334_3316335dup	NT_167247.2:g.3316333_3316335dup	NT_167247.2:g.3316331_3316335dup	NT_167247.2:g.3316327_3316335dup	NT_167247.2:g.3316325_3316335dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3321901_3321920=	NT_167247.1:g.3321916_3321920del	NT_167247.1:g.3321917_3321920del	NT_167247.1:g.3321918_3321920del	NT_167247.1:g.3321919_3321920del	NT_167247.1:g.3321920del	NT_167247.1:g.3321920dup	NT_167247.1:g.3321919_3321920dup	NT_167247.1:g.3321918_3321920dup	NT_167247.1:g.3321916_3321920dup	NT_167247.1:g.3321912_3321920dup	NT_167247.1:g.3321910_3321920dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3227657dup	NT_167245.1:g.3227654_3227657del	NT_167245.1:g.3227655_3227657del	NT_167245.1:g.3227656_3227657del	NT_167245.1:g.3227657del	NT_167245.1:g.3227640_3227657=	NT_167245.1:g.3227656_3227657dup	NT_167245.1:g.3227655_3227657dup	NT_167245.1:g.3227654_3227657dup	NT_167245.1:g.3227652_3227657dup	NT_167245.1:g.3227648_3227657dup	NT_167245.1:g.3227646_3227657dup
STK19 transcript variant 1	NM_004197.1:c.567+1523=	NM_004197.1:c.567+1537_567+1541del	NM_004197.1:c.567+1538_567+1541del	NM_004197.1:c.567+1539_567+1541del	NM_004197.1:c.567+1540_567+1541del	NM_004197.1:c.567+1541del	NM_004197.1:c.567+1541dup	NM_004197.1:c.567+1540_567+1541dup	NM_004197.1:c.567+1539_567+1541dup	NM_004197.1:c.567+1537_567+1541dup	NM_004197.1:c.567+1533_567+1541dup	NM_004197.1:c.567+1531_567+1541dup
STK19 transcript variant 1	NM_004197.2:c.237+1523=	NM_004197.2:c.237+1537_237+1541del	NM_004197.2:c.237+1538_237+1541del	NM_004197.2:c.237+1539_237+1541del	NM_004197.2:c.237+1540_237+1541del	NM_004197.2:c.237+1541del	NM_004197.2:c.237+1541dup	NM_004197.2:c.237+1540_237+1541dup	NM_004197.2:c.237+1539_237+1541dup	NM_004197.2:c.237+1537_237+1541dup	NM_004197.2:c.237+1533_237+1541dup	NM_004197.2:c.237+1531_237+1541dup
STK19 transcript variant 2	NM_032454.1:c.567+1523=	NM_032454.1:c.567+1537_567+1541del	NM_032454.1:c.567+1538_567+1541del	NM_032454.1:c.567+1539_567+1541del	NM_032454.1:c.567+1540_567+1541del	NM_032454.1:c.567+1541del	NM_032454.1:c.567+1541dup	NM_032454.1:c.567+1540_567+1541dup	NM_032454.1:c.567+1539_567+1541dup	NM_032454.1:c.567+1537_567+1541dup	NM_032454.1:c.567+1533_567+1541dup	NM_032454.1:c.567+1531_567+1541dup

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#.

50 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SI_MHC_SNP	ss35034531	May 24, 2005 (125)
2	ABI	ss42776620	Mar 15, 2006 (137)
3	HUMANGENOME_JCVI	ss95424533	Feb 06, 2009 (130)
4	PJP	ss295273334	May 09, 2011 (137)
5	1000GENOMES	ss1375336490	Aug 21, 2014 (142)
6	SWEGEN	ss2998801271	Nov 08, 2017 (151)
7	URBANLAB	ss3648310611	Oct 12, 2018 (152)
8	EVA_DECODE	ss3716914680	Jul 13, 2019 (153)
9	EVA_DECODE	ss3716914681	Jul 13, 2019 (153)
10	EVA_DECODE	ss3716914682	Jul 13, 2019 (153)
11	EVA_DECODE	ss3716914683	Jul 13, 2019 (153)
12	EVA_DECODE	ss3716914684	Jul 13, 2019 (153)
13	PACBIO	ss3790785531	Jul 13, 2019 (153)
14	PACBIO	ss3795663046	Jul 13, 2019 (153)
15	KHV_HUMAN_GENOMES	ss3807981077	Jul 13, 2019 (153)
16	EVA	ss3829834366	Apr 26, 2020 (154)
17	VINODS	ss4025189335	Apr 26, 2021 (155)
18	VINODS	ss4025267326	Apr 26, 2021 (155)
19	GNOMAD	ss4139417170	Apr 26, 2021 (155)
20	GNOMAD	ss4139417171	Apr 26, 2021 (155)
21	GNOMAD	ss4139417172	Apr 26, 2021 (155)
22	GNOMAD	ss4139417173	Apr 26, 2021 (155)
23	GNOMAD	ss4139417174	Apr 26, 2021 (155)
24	GNOMAD	ss4139417175	Apr 26, 2021 (155)
25	GNOMAD	ss4139417176	Apr 26, 2021 (155)
26	GNOMAD	ss4139417177	Apr 26, 2021 (155)
27	GNOMAD	ss4139417178	Apr 26, 2021 (155)
28	GNOMAD	ss4139417179	Apr 26, 2021 (155)
29	GNOMAD	ss4139417180	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5176850176	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5176850177	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5176850178	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5176850179	Apr 26, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5267946284	Oct 17, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5267946285	Oct 17, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5267946287	Oct 17, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5267946288	Oct 17, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5267946289	Oct 17, 2022 (156)
39	HUGCELL_USP	ss5465679083	Oct 17, 2022 (156)
40	HUGCELL_USP	ss5465679084	Oct 17, 2022 (156)
41	HUGCELL_USP	ss5465679085	Oct 17, 2022 (156)
42	HUGCELL_USP	ss5465679086	Oct 17, 2022 (156)
43	TOMMO_GENOMICS	ss5714709941	Oct 17, 2022 (156)
44	TOMMO_GENOMICS	ss5714709942	Oct 17, 2022 (156)
45	TOMMO_GENOMICS	ss5714709943	Oct 17, 2022 (156)
46	TOMMO_GENOMICS	ss5714709945	Oct 17, 2022 (156)
47	EVA	ss5842031464	Oct 17, 2022 (156)
48	EVA	ss5842031465	Oct 17, 2022 (156)
49	EVA	ss5842031466	Oct 17, 2022 (156)
50	EVA	ss5855285259	Oct 17, 2022 (156)
51	1000Genomes	NC_000006.11 - 31942057	Oct 12, 2018 (152)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221297379 (NC_000006.12:31974279::A 33740/108458) Row 221297380 (NC_000006.12:31974279::AA 2927/108510) Row 221297381 (NC_000006.12:31974279::AAA 24/108614)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221297379 (NC_000006.12:31974279::A 33740/108458) Row 221297380 (NC_000006.12:31974279::AA 2927/108510) Row 221297381 (NC_000006.12:31974279::AAA 24/108614)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221297379 (NC_000006.12:31974279::A 33740/108458) Row 221297380 (NC_000006.12:31974279::AA 2927/108510) Row 221297381 (NC_000006.12:31974279::AAA 24/108614)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221297379 (NC_000006.12:31974279::A 33740/108458) Row 221297380 (NC_000006.12:31974279::AA 2927/108510) Row 221297381 (NC_000006.12:31974279::AAA 24/108614)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221297379 (NC_000006.12:31974279::A 33740/108458) Row 221297380 (NC_000006.12:31974279::AA 2927/108510) Row 221297381 (NC_000006.12:31974279::AAA 24/108614)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221297379 (NC_000006.12:31974279::A 33740/108458) Row 221297380 (NC_000006.12:31974279::AA 2927/108510) Row 221297381 (NC_000006.12:31974279::AAA 24/108614)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221297379 (NC_000006.12:31974279::A 33740/108458) Row 221297380 (NC_000006.12:31974279::AA 2927/108510) Row 221297381 (NC_000006.12:31974279::AAA 24/108614)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221297379 (NC_000006.12:31974279::A 33740/108458) Row 221297380 (NC_000006.12:31974279::AA 2927/108510) Row 221297381 (NC_000006.12:31974279::AAA 24/108614)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221297379 (NC_000006.12:31974279::A 33740/108458) Row 221297380 (NC_000006.12:31974279::AA 2927/108510) Row 221297381 (NC_000006.12:31974279::AAA 24/108614)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221297379 (NC_000006.12:31974279::A 33740/108458) Row 221297380 (NC_000006.12:31974279::AA 2927/108510) Row 221297381 (NC_000006.12:31974279::AAA 24/108614)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221297379 (NC_000006.12:31974279::A 33740/108458) Row 221297380 (NC_000006.12:31974279::AA 2927/108510) Row 221297381 (NC_000006.12:31974279::AAA 24/108614)...	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 34819483 (NC_000006.11:31942056::A 5446/16442) Row 34819484 (NC_000006.11:31942056:AA: 1902/16442) Row 34819485 (NC_000006.11:31942056:A: 1432/16442)...	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 34819483 (NC_000006.11:31942056::A 5446/16442) Row 34819484 (NC_000006.11:31942056:AA: 1902/16442) Row 34819485 (NC_000006.11:31942056:A: 1432/16442)...	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 34819483 (NC_000006.11:31942056::A 5446/16442) Row 34819484 (NC_000006.11:31942056:AA: 1902/16442) Row 34819485 (NC_000006.11:31942056:A: 1432/16442)...	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 34819483 (NC_000006.11:31942056::A 5446/16442) Row 34819484 (NC_000006.11:31942056:AA: 1902/16442) Row 34819485 (NC_000006.11:31942056:A: 1432/16442)...	-	Apr 26, 2021 (155)
67	14KJPN Submission ignored due to conflicting rows: Row 48547045 (NC_000006.12:31974279:A: 2633/28146) Row 48547046 (NC_000006.12:31974279::A 9841/28146) Row 48547047 (NC_000006.12:31974279:AA: 3456/28146)...	-	Oct 17, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 48547045 (NC_000006.12:31974279:A: 2633/28146) Row 48547046 (NC_000006.12:31974279::A 9841/28146) Row 48547047 (NC_000006.12:31974279:AA: 3456/28146)...	-	Oct 17, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 48547045 (NC_000006.12:31974279:A: 2633/28146) Row 48547046 (NC_000006.12:31974279::A 9841/28146) Row 48547047 (NC_000006.12:31974279:AA: 3456/28146)...	-	Oct 17, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 48547045 (NC_000006.12:31974279:A: 2633/28146) Row 48547046 (NC_000006.12:31974279::A 9841/28146) Row 48547047 (NC_000006.12:31974279:AA: 3456/28146)...	-	Oct 17, 2022 (156)
71	ALFA	NC_000006.12 - 31974280	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)
rs36062840	Jul 30, 2012 (137)
rs41315210	Jul 30, 2012 (137)
rs139228593	May 04, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4139417180	NC_000006.12:31974279:AAAAA:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4139417179	NC_000006.12:31974279:AAAA:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
1616989178	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3716914684, ss4139417178, ss5267946289, ss5855285259	NC_000006.12:31974279:AAA:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
1616989178	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss2998801271, ss5176850177, ss5842031466	NC_000006.11:31942056:AA:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4139417177, ss5267946287, ss5465679084, ss5714709943	NC_000006.12:31974279:AA:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
1616989178	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3716914683	NC_000006.12:31974280:AA:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss295273334	NC_000006.10:32050053:A:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
31336384, ss1375336490, ss3829834366, ss5176850178	NC_000006.11:31942056:A:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3648310611, ss3807981077, ss4139417176, ss5267946284, ss5465679085, ss5714709941	NC_000006.12:31974279:A:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
1616989178	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3716914682	NC_000006.12:31974281:A:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss42776620	NT_007592.15:31882056:A:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss95424533	NT_007592.15:31882074:A:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4025189335	NT_113891.3:3451706:A:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4025267326	NT_167248.2:3230249:A:	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3790785531, ss3795663046, ss5176850176, ss5842031464	NC_000006.11:31942056::A	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4139417170, ss5267946285, ss5465679083, ss5714709942	NC_000006.12:31974279::A	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
1616989178	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3716914681	NC_000006.12:31974282::A	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss35034531	NT_007592.15:31882075::A	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5176850179, ss5842031465	NC_000006.11:31942056::AA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4139417171, ss5267946288, ss5465679086, ss5714709945	NC_000006.12:31974279::AA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
1616989178	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3716914680	NC_000006.12:31974282::AA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4139417172	NC_000006.12:31974279::AAA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
1616989178	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4139417173	NC_000006.12:31974279::AAAAA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
1616989178	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4139417174	NC_000006.12:31974279::AAAAAAAAA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4139417175	NC_000006.12:31974279::AAAAAAAAAAA	NC_000006.12:31974279:AAAAAAAAAAAA… NC_000006.12:31974279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

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

No publications for rs11404431

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

rs11404431