Name: rs34291619
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.

rs34291619

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:150263916-150263932 (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(T)₇ / del(T)₆ / del(T)₅ / del(…
del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₂
Variation Type: Indel Insertion and Deletion
Frequency: dupTT=0.0875 (568/6489, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CA14 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

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

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	6489	TTTTTTTTTTTTTTTTT=0.0672	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.8419, TTTTTTTTTTTTTTTTTTT=0.0875, TTTTTTTTTTTTTTTTTTTT=0.0020, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0005, TTTTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTTTT=0.0000	0.842771	0.030646	0.126582	32
European	Sub	5539	TTTTTTTTTTTTTTTTT=0.0004	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.8935, TTTTTTTTTTTTTTTTTTT=0.1022, TTTTTTTTTTTTTTTTTTTT=0.0023, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0005, TTTTTTTTTTTTTTTTTTTTTT=0.0011, TTTTTTTTTTTTTTTTTTTTT=0.0000	0.828353	0.033163	0.138484	32
African	Sub	470	TTTTTTTTTTTTTTTTT=0.838	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.162, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	26	TTTTTTTTTTTTTTTTT=0.92	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.08, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	444	TTTTTTTTTTTTTTTTT=0.833	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.167, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	26	TTTTTTTTTTTTTTTTT=0.08	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.92, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	14	TTTTTTTTTTTTTTTTT=0.14	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.86, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	12	TTTTTTTTTTTTTTTTT=0.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=1.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	2	TTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0	0	0	0	N/A
Latin American 2	Sub	16	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	0	0	0	N/A
South Asian	Sub	0	TTTTTTTTTTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other	Sub	436	TTTTTTTTTTTTTTTTT=0.046	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.950, TTTTTTTTTTTTTTTTTTT=0.005, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	0.995192	0.004808	0.0	32

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	6489	(T)₁₇=0.0672	del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.8419, dupTT=0.0875, dupTTT=0.0020, dup(T)₄=0.0000, dup(T)₅=0.0009, dup(T)₈=0.0005
Allele Frequency Aggregator	European	Sub	5539	(T)₁₇=0.0004	del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.8935, dupTT=0.1022, dupTTT=0.0023, dup(T)₄=0.0000, dup(T)₅=0.0011, dup(T)₈=0.0005
Allele Frequency Aggregator	African	Sub	470	(T)₁₇=0.838	del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.162, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₈=0.000
Allele Frequency Aggregator	Other	Sub	436	(T)₁₇=0.046	del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.950, dupTT=0.005, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₈=0.000
Allele Frequency Aggregator	Asian	Sub	26	(T)₁₇=0.08	del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.92, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₈=0.00
Allele Frequency Aggregator	Latin American 2	Sub	16	(T)₁₇=1.00	del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₈=0.00
Allele Frequency Aggregator	Latin American 1	Sub	2	(T)₁₇=1.0	del(T)₇=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0, dup(T)₈=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(T)₁₇=0	del(T)₇=0, del(T)₆=0, del(T)₅=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₄=0, dup(T)₅=0, dup(T)₈=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 1	NC_000001.11:g.150263926_150263932del
GRCh38.p14 chr 1	NC_000001.11:g.150263927_150263932del
GRCh38.p14 chr 1	NC_000001.11:g.150263928_150263932del
GRCh38.p14 chr 1	NC_000001.11:g.150263929_150263932del
GRCh38.p14 chr 1	NC_000001.11:g.150263930_150263932del
GRCh38.p14 chr 1	NC_000001.11:g.150263931_150263932del
GRCh38.p14 chr 1	NC_000001.11:g.150263932del
GRCh38.p14 chr 1	NC_000001.11:g.150263932dup
GRCh38.p14 chr 1	NC_000001.11:g.150263931_150263932dup
GRCh38.p14 chr 1	NC_000001.11:g.150263930_150263932dup
GRCh38.p14 chr 1	NC_000001.11:g.150263929_150263932dup
GRCh38.p14 chr 1	NC_000001.11:g.150263928_150263932dup
GRCh38.p14 chr 1	NC_000001.11:g.150263927_150263932dup
GRCh38.p14 chr 1	NC_000001.11:g.150263925_150263932dup
GRCh38.p14 chr 1	NC_000001.11:g.150263924_150263932dup
GRCh38.p14 chr 1	NC_000001.11:g.150263923_150263932dup
GRCh38.p14 chr 1	NC_000001.11:g.150263921_150263932dup
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079339_7079345del
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079340_7079345del
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079341_7079345del
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079342_7079345del
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079343_7079345del
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079344_7079345del
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079345del
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079345dup
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079344_7079345dup
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079343_7079345dup
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079342_7079345dup
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079341_7079345dup
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079340_7079345dup
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079338_7079345dup
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079337_7079345dup
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079336_7079345dup
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079334_7079345dup
APH1A RefSeqGene	NG_029952.2:g.10094_10100del
APH1A RefSeqGene	NG_029952.2:g.10095_10100del
APH1A RefSeqGene	NG_029952.2:g.10096_10100del
APH1A RefSeqGene	NG_029952.2:g.10097_10100del
APH1A RefSeqGene	NG_029952.2:g.10098_10100del
APH1A RefSeqGene	NG_029952.2:g.10099_10100del
APH1A RefSeqGene	NG_029952.2:g.10100del
APH1A RefSeqGene	NG_029952.2:g.10100dup
APH1A RefSeqGene	NG_029952.2:g.10099_10100dup
APH1A RefSeqGene	NG_029952.2:g.10098_10100dup
APH1A RefSeqGene	NG_029952.2:g.10097_10100dup
APH1A RefSeqGene	NG_029952.2:g.10096_10100dup
APH1A RefSeqGene	NG_029952.2:g.10095_10100dup
APH1A RefSeqGene	NG_029952.2:g.10093_10100dup
APH1A RefSeqGene	NG_029952.2:g.10092_10100dup
APH1A RefSeqGene	NG_029952.2:g.10091_10100dup
APH1A RefSeqGene	NG_029952.2:g.10089_10100dup
APH1A RefSeqGene	NG_029952.1:g.10289_10295del
APH1A RefSeqGene	NG_029952.1:g.10290_10295del
APH1A RefSeqGene	NG_029952.1:g.10291_10295del
APH1A RefSeqGene	NG_029952.1:g.10292_10295del
APH1A RefSeqGene	NG_029952.1:g.10293_10295del
APH1A RefSeqGene	NG_029952.1:g.10294_10295del
APH1A RefSeqGene	NG_029952.1:g.10295del
APH1A RefSeqGene	NG_029952.1:g.10295dup
APH1A RefSeqGene	NG_029952.1:g.10294_10295dup
APH1A RefSeqGene	NG_029952.1:g.10293_10295dup
APH1A RefSeqGene	NG_029952.1:g.10292_10295dup
APH1A RefSeqGene	NG_029952.1:g.10291_10295dup
APH1A RefSeqGene	NG_029952.1:g.10290_10295dup
APH1A RefSeqGene	NG_029952.1:g.10288_10295dup
APH1A RefSeqGene	NG_029952.1:g.10287_10295dup
APH1A RefSeqGene	NG_029952.1:g.10286_10295dup
APH1A RefSeqGene	NG_029952.1:g.10284_10295dup
GRCh37.p13 chr 1	NC_000001.10:g.150236326_150236332del
GRCh37.p13 chr 1	NC_000001.10:g.150236327_150236332del
GRCh37.p13 chr 1	NC_000001.10:g.150236328_150236332del
GRCh37.p13 chr 1	NC_000001.10:g.150236329_150236332del
GRCh37.p13 chr 1	NC_000001.10:g.150236330_150236332del
GRCh37.p13 chr 1	NC_000001.10:g.150236331_150236332del
GRCh37.p13 chr 1	NC_000001.10:g.150236332del
GRCh37.p13 chr 1	NC_000001.10:g.150236332dup
GRCh37.p13 chr 1	NC_000001.10:g.150236331_150236332dup
GRCh37.p13 chr 1	NC_000001.10:g.150236330_150236332dup
GRCh37.p13 chr 1	NC_000001.10:g.150236329_150236332dup
GRCh37.p13 chr 1	NC_000001.10:g.150236328_150236332dup
GRCh37.p13 chr 1	NC_000001.10:g.150236327_150236332dup
GRCh37.p13 chr 1	NC_000001.10:g.150236325_150236332dup
GRCh37.p13 chr 1	NC_000001.10:g.150236324_150236332dup
GRCh37.p13 chr 1	NC_000001.10:g.150236323_150236332dup
GRCh37.p13 chr 1	NC_000001.10:g.150236321_150236332dup

Gene: CA14, carbonic anhydrase 14 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CA14 transcript	NM_012113.3:c.947+48_947+… NM_012113.3:c.947+48_947+54del	N/A	Intron Variant
CA14 transcript variant X1	XM_005245059.4:c.944+48_9… XM_005245059.4:c.944+48_944+54del	N/A	Intron Variant
CA14 transcript variant X3	XM_005245060.4:c.862+247_… XM_005245060.4:c.862+247_862+253del	N/A	Intron Variant
CA14 transcript variant X4	XM_006711259.4:c.859+247_… XM_006711259.4:c.859+247_859+253del	N/A	Intron Variant
CA14 transcript variant X5	XM_006711261.4:c.779+48_7… XM_006711261.4:c.779+48_779+54del	N/A	Intron Variant
CA14 transcript variant X2	XM_011509379.4:c.905+48_9… XM_011509379.4:c.905+48_905+54del	N/A	Intron Variant
CA14 transcript variant X6	XM_017000894.3:c.722+48_7… XM_017000894.3:c.722+48_722+54del	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	(T)₁₇=	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₂
GRCh38.p14 chr 1	NC_000001.11:g.150263916_150263932=	NC_000001.11:g.150263926_150263932del	NC_000001.11:g.150263927_150263932del	NC_000001.11:g.150263928_150263932del	NC_000001.11:g.150263929_150263932del	NC_000001.11:g.150263930_150263932del	NC_000001.11:g.150263931_150263932del	NC_000001.11:g.150263932del	NC_000001.11:g.150263932dup	NC_000001.11:g.150263931_150263932dup	NC_000001.11:g.150263930_150263932dup	NC_000001.11:g.150263929_150263932dup	NC_000001.11:g.150263928_150263932dup	NC_000001.11:g.150263927_150263932dup	NC_000001.11:g.150263925_150263932dup	NC_000001.11:g.150263924_150263932dup	NC_000001.11:g.150263923_150263932dup	NC_000001.11:g.150263921_150263932dup
GRCh37.p13 chr 1 fix patch HG1287_PATCH	NW_003871055.3:g.7079329_7079345=	NW_003871055.3:g.7079339_7079345del	NW_003871055.3:g.7079340_7079345del	NW_003871055.3:g.7079341_7079345del	NW_003871055.3:g.7079342_7079345del	NW_003871055.3:g.7079343_7079345del	NW_003871055.3:g.7079344_7079345del	NW_003871055.3:g.7079345del	NW_003871055.3:g.7079345dup	NW_003871055.3:g.7079344_7079345dup	NW_003871055.3:g.7079343_7079345dup	NW_003871055.3:g.7079342_7079345dup	NW_003871055.3:g.7079341_7079345dup	NW_003871055.3:g.7079340_7079345dup	NW_003871055.3:g.7079338_7079345dup	NW_003871055.3:g.7079337_7079345dup	NW_003871055.3:g.7079336_7079345dup	NW_003871055.3:g.7079334_7079345dup
APH1A RefSeqGene	NG_029952.2:g.10084_10100=	NG_029952.2:g.10094_10100del	NG_029952.2:g.10095_10100del	NG_029952.2:g.10096_10100del	NG_029952.2:g.10097_10100del	NG_029952.2:g.10098_10100del	NG_029952.2:g.10099_10100del	NG_029952.2:g.10100del	NG_029952.2:g.10100dup	NG_029952.2:g.10099_10100dup	NG_029952.2:g.10098_10100dup	NG_029952.2:g.10097_10100dup	NG_029952.2:g.10096_10100dup	NG_029952.2:g.10095_10100dup	NG_029952.2:g.10093_10100dup	NG_029952.2:g.10092_10100dup	NG_029952.2:g.10091_10100dup	NG_029952.2:g.10089_10100dup
APH1A RefSeqGene	NG_029952.1:g.10278_10295=	NG_029952.1:g.10289_10295del	NG_029952.1:g.10290_10295del	NG_029952.1:g.10291_10295del	NG_029952.1:g.10292_10295del	NG_029952.1:g.10293_10295del	NG_029952.1:g.10294_10295del	NG_029952.1:g.10295del	NG_029952.1:g.10295dup	NG_029952.1:g.10294_10295dup	NG_029952.1:g.10293_10295dup	NG_029952.1:g.10292_10295dup	NG_029952.1:g.10291_10295dup	NG_029952.1:g.10290_10295dup	NG_029952.1:g.10288_10295dup	NG_029952.1:g.10287_10295dup	NG_029952.1:g.10286_10295dup	NG_029952.1:g.10284_10295dup
GRCh37.p13 chr 1	NC_000001.10:g.150236315_150236332=	NC_000001.10:g.150236326_150236332del	NC_000001.10:g.150236327_150236332del	NC_000001.10:g.150236328_150236332del	NC_000001.10:g.150236329_150236332del	NC_000001.10:g.150236330_150236332del	NC_000001.10:g.150236331_150236332del	NC_000001.10:g.150236332del	NC_000001.10:g.150236332dup	NC_000001.10:g.150236331_150236332dup	NC_000001.10:g.150236330_150236332dup	NC_000001.10:g.150236329_150236332dup	NC_000001.10:g.150236328_150236332dup	NC_000001.10:g.150236327_150236332dup	NC_000001.10:g.150236325_150236332dup	NC_000001.10:g.150236324_150236332dup	NC_000001.10:g.150236323_150236332dup	NC_000001.10:g.150236321_150236332dup
CA14 transcript	NM_012113.1:c.947+38=	NM_012113.1:c.947+49_947+55del	NM_012113.1:c.947+50_947+55del	NM_012113.1:c.947+51_947+55del	NM_012113.1:c.947+52_947+55del	NM_012113.1:c.947+53_947+55del	NM_012113.1:c.947+54_947+55del	NM_012113.1:c.947+55del	NM_012113.1:c.947+55dup	NM_012113.1:c.947+54_947+55dup	NM_012113.1:c.947+53_947+55dup	NM_012113.1:c.947+52_947+55dup	NM_012113.1:c.947+51_947+55dup	NM_012113.1:c.947+50_947+55dup	NM_012113.1:c.947+48_947+55dup	NM_012113.1:c.947+47_947+55dup	NM_012113.1:c.947+46_947+55dup	NM_012113.1:c.947+44_947+55dup
CA14 transcript	NM_012113.3:c.947+38=	NM_012113.3:c.947+48_947+54del	NM_012113.3:c.947+49_947+54del	NM_012113.3:c.947+50_947+54del	NM_012113.3:c.947+51_947+54del	NM_012113.3:c.947+52_947+54del	NM_012113.3:c.947+53_947+54del	NM_012113.3:c.947+54del	NM_012113.3:c.947+54dup	NM_012113.3:c.947+53_947+54dup	NM_012113.3:c.947+52_947+54dup	NM_012113.3:c.947+51_947+54dup	NM_012113.3:c.947+50_947+54dup	NM_012113.3:c.947+49_947+54dup	NM_012113.3:c.947+47_947+54dup	NM_012113.3:c.947+46_947+54dup	NM_012113.3:c.947+45_947+54dup	NM_012113.3:c.947+43_947+54dup
CA14 transcript variant X1	XM_005245058.1:c.1101+237=	XM_005245058.1:c.1101+248_1101+254del	XM_005245058.1:c.1101+249_1101+254del	XM_005245058.1:c.1101+250_1101+254del	XM_005245058.1:c.1101+251_1101+254del	XM_005245058.1:c.1101+252_1101+254del	XM_005245058.1:c.1101+253_1101+254del	XM_005245058.1:c.1101+254del	XM_005245058.1:c.1101+254dup	XM_005245058.1:c.1101+253_1101+254dup	XM_005245058.1:c.1101+252_1101+254dup	XM_005245058.1:c.1101+251_1101+254dup	XM_005245058.1:c.1101+250_1101+254dup	XM_005245058.1:c.1101+249_1101+254dup	XM_005245058.1:c.1101+247_1101+254dup	XM_005245058.1:c.1101+246_1101+254dup	XM_005245058.1:c.1101+245_1101+254dup	XM_005245058.1:c.1101+243_1101+254dup
CA14 transcript variant X1	XM_005245059.1:c.944+38=	XM_005245059.1:c.944+49_944+55del	XM_005245059.1:c.944+50_944+55del	XM_005245059.1:c.944+51_944+55del	XM_005245059.1:c.944+52_944+55del	XM_005245059.1:c.944+53_944+55del	XM_005245059.1:c.944+54_944+55del	XM_005245059.1:c.944+55del	XM_005245059.1:c.944+55dup	XM_005245059.1:c.944+54_944+55dup	XM_005245059.1:c.944+53_944+55dup	XM_005245059.1:c.944+52_944+55dup	XM_005245059.1:c.944+51_944+55dup	XM_005245059.1:c.944+50_944+55dup	XM_005245059.1:c.944+48_944+55dup	XM_005245059.1:c.944+47_944+55dup	XM_005245059.1:c.944+46_944+55dup	XM_005245059.1:c.944+44_944+55dup
CA14 transcript variant X1	XM_005245059.4:c.944+38=	XM_005245059.4:c.944+48_944+54del	XM_005245059.4:c.944+49_944+54del	XM_005245059.4:c.944+50_944+54del	XM_005245059.4:c.944+51_944+54del	XM_005245059.4:c.944+52_944+54del	XM_005245059.4:c.944+53_944+54del	XM_005245059.4:c.944+54del	XM_005245059.4:c.944+54dup	XM_005245059.4:c.944+53_944+54dup	XM_005245059.4:c.944+52_944+54dup	XM_005245059.4:c.944+51_944+54dup	XM_005245059.4:c.944+50_944+54dup	XM_005245059.4:c.944+49_944+54dup	XM_005245059.4:c.944+47_944+54dup	XM_005245059.4:c.944+46_944+54dup	XM_005245059.4:c.944+45_944+54dup	XM_005245059.4:c.944+43_944+54dup
CA14 transcript variant X3	XM_005245060.1:c.862+237=	XM_005245060.1:c.862+248_862+254del	XM_005245060.1:c.862+249_862+254del	XM_005245060.1:c.862+250_862+254del	XM_005245060.1:c.862+251_862+254del	XM_005245060.1:c.862+252_862+254del	XM_005245060.1:c.862+253_862+254del	XM_005245060.1:c.862+254del	XM_005245060.1:c.862+254dup	XM_005245060.1:c.862+253_862+254dup	XM_005245060.1:c.862+252_862+254dup	XM_005245060.1:c.862+251_862+254dup	XM_005245060.1:c.862+250_862+254dup	XM_005245060.1:c.862+249_862+254dup	XM_005245060.1:c.862+247_862+254dup	XM_005245060.1:c.862+246_862+254dup	XM_005245060.1:c.862+245_862+254dup	XM_005245060.1:c.862+243_862+254dup
CA14 transcript variant X3	XM_005245060.4:c.862+237=	XM_005245060.4:c.862+247_862+253del	XM_005245060.4:c.862+248_862+253del	XM_005245060.4:c.862+249_862+253del	XM_005245060.4:c.862+250_862+253del	XM_005245060.4:c.862+251_862+253del	XM_005245060.4:c.862+252_862+253del	XM_005245060.4:c.862+253del	XM_005245060.4:c.862+253dup	XM_005245060.4:c.862+252_862+253dup	XM_005245060.4:c.862+251_862+253dup	XM_005245060.4:c.862+250_862+253dup	XM_005245060.4:c.862+249_862+253dup	XM_005245060.4:c.862+248_862+253dup	XM_005245060.4:c.862+246_862+253dup	XM_005245060.4:c.862+245_862+253dup	XM_005245060.4:c.862+244_862+253dup	XM_005245060.4:c.862+242_862+253dup
CA14 transcript variant X1	XM_005277359.1:c.1101+237=	XM_005277359.1:c.1101+247_1101+253del	XM_005277359.1:c.1101+248_1101+253del	XM_005277359.1:c.1101+249_1101+253del	XM_005277359.1:c.1101+250_1101+253del	XM_005277359.1:c.1101+251_1101+253del	XM_005277359.1:c.1101+252_1101+253del	XM_005277359.1:c.1101+253del	XM_005277359.1:c.1101+253dup	XM_005277359.1:c.1101+252_1101+253dup	XM_005277359.1:c.1101+251_1101+253dup	XM_005277359.1:c.1101+250_1101+253dup	XM_005277359.1:c.1101+249_1101+253dup	XM_005277359.1:c.1101+248_1101+253dup	XM_005277359.1:c.1101+246_1101+253dup	XM_005277359.1:c.1101+245_1101+253dup	XM_005277359.1:c.1101+244_1101+253dup	XM_005277359.1:c.1101+242_1101+253dup
CA14 transcript variant X2	XM_005277360.1:c.944+38=	XM_005277360.1:c.944+48_944+54del	XM_005277360.1:c.944+49_944+54del	XM_005277360.1:c.944+50_944+54del	XM_005277360.1:c.944+51_944+54del	XM_005277360.1:c.944+52_944+54del	XM_005277360.1:c.944+53_944+54del	XM_005277360.1:c.944+54del	XM_005277360.1:c.944+54dup	XM_005277360.1:c.944+53_944+54dup	XM_005277360.1:c.944+52_944+54dup	XM_005277360.1:c.944+51_944+54dup	XM_005277360.1:c.944+50_944+54dup	XM_005277360.1:c.944+49_944+54dup	XM_005277360.1:c.944+47_944+54dup	XM_005277360.1:c.944+46_944+54dup	XM_005277360.1:c.944+45_944+54dup	XM_005277360.1:c.944+43_944+54dup
CA14 transcript variant X3	XM_005277361.1:c.862+237=	XM_005277361.1:c.862+247_862+253del	XM_005277361.1:c.862+248_862+253del	XM_005277361.1:c.862+249_862+253del	XM_005277361.1:c.862+250_862+253del	XM_005277361.1:c.862+251_862+253del	XM_005277361.1:c.862+252_862+253del	XM_005277361.1:c.862+253del	XM_005277361.1:c.862+253dup	XM_005277361.1:c.862+252_862+253dup	XM_005277361.1:c.862+251_862+253dup	XM_005277361.1:c.862+250_862+253dup	XM_005277361.1:c.862+249_862+253dup	XM_005277361.1:c.862+248_862+253dup	XM_005277361.1:c.862+246_862+253dup	XM_005277361.1:c.862+245_862+253dup	XM_005277361.1:c.862+244_862+253dup	XM_005277361.1:c.862+242_862+253dup
CA14 transcript variant X4	XM_006711259.4:c.859+237=	XM_006711259.4:c.859+247_859+253del	XM_006711259.4:c.859+248_859+253del	XM_006711259.4:c.859+249_859+253del	XM_006711259.4:c.859+250_859+253del	XM_006711259.4:c.859+251_859+253del	XM_006711259.4:c.859+252_859+253del	XM_006711259.4:c.859+253del	XM_006711259.4:c.859+253dup	XM_006711259.4:c.859+252_859+253dup	XM_006711259.4:c.859+251_859+253dup	XM_006711259.4:c.859+250_859+253dup	XM_006711259.4:c.859+249_859+253dup	XM_006711259.4:c.859+248_859+253dup	XM_006711259.4:c.859+246_859+253dup	XM_006711259.4:c.859+245_859+253dup	XM_006711259.4:c.859+244_859+253dup	XM_006711259.4:c.859+242_859+253dup
CA14 transcript variant X5	XM_006711261.4:c.779+38=	XM_006711261.4:c.779+48_779+54del	XM_006711261.4:c.779+49_779+54del	XM_006711261.4:c.779+50_779+54del	XM_006711261.4:c.779+51_779+54del	XM_006711261.4:c.779+52_779+54del	XM_006711261.4:c.779+53_779+54del	XM_006711261.4:c.779+54del	XM_006711261.4:c.779+54dup	XM_006711261.4:c.779+53_779+54dup	XM_006711261.4:c.779+52_779+54dup	XM_006711261.4:c.779+51_779+54dup	XM_006711261.4:c.779+50_779+54dup	XM_006711261.4:c.779+49_779+54dup	XM_006711261.4:c.779+47_779+54dup	XM_006711261.4:c.779+46_779+54dup	XM_006711261.4:c.779+45_779+54dup	XM_006711261.4:c.779+43_779+54dup
CA14 transcript variant X2	XM_011509379.4:c.905+38=	XM_011509379.4:c.905+48_905+54del	XM_011509379.4:c.905+49_905+54del	XM_011509379.4:c.905+50_905+54del	XM_011509379.4:c.905+51_905+54del	XM_011509379.4:c.905+52_905+54del	XM_011509379.4:c.905+53_905+54del	XM_011509379.4:c.905+54del	XM_011509379.4:c.905+54dup	XM_011509379.4:c.905+53_905+54dup	XM_011509379.4:c.905+52_905+54dup	XM_011509379.4:c.905+51_905+54dup	XM_011509379.4:c.905+50_905+54dup	XM_011509379.4:c.905+49_905+54dup	XM_011509379.4:c.905+47_905+54dup	XM_011509379.4:c.905+46_905+54dup	XM_011509379.4:c.905+45_905+54dup	XM_011509379.4:c.905+43_905+54dup
CA14 transcript variant X6	XM_017000894.3:c.722+38=	XM_017000894.3:c.722+48_722+54del	XM_017000894.3:c.722+49_722+54del	XM_017000894.3:c.722+50_722+54del	XM_017000894.3:c.722+51_722+54del	XM_017000894.3:c.722+52_722+54del	XM_017000894.3:c.722+53_722+54del	XM_017000894.3:c.722+54del	XM_017000894.3:c.722+54dup	XM_017000894.3:c.722+53_722+54dup	XM_017000894.3:c.722+52_722+54dup	XM_017000894.3:c.722+51_722+54dup	XM_017000894.3:c.722+50_722+54dup	XM_017000894.3:c.722+49_722+54dup	XM_017000894.3:c.722+47_722+54dup	XM_017000894.3:c.722+46_722+54dup	XM_017000894.3:c.722+45_722+54dup	XM_017000894.3:c.722+43_722+54dup

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#.

64 SubSNP, 32 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41332793	Mar 13, 2006 (126)
2	WARNICH_LAB	ss678270515	Apr 25, 2013 (138)
3	EVA_EXAC	ss1711634178	Apr 09, 2015 (144)
4	EVA_EXAC	ss1711634182	Apr 09, 2015 (144)
5	EVA_EXAC	ss1711634185	Apr 09, 2015 (144)
6	EVA_EXAC	ss1711634188	Apr 09, 2015 (144)
7	EVA_EXAC	ss1711634190	Apr 09, 2015 (144)
8	EVA_EXAC	ss1711634191	Apr 09, 2015 (144)
9	EVA_EXAC	ss1711634192	Oct 11, 2018 (152)
10	EVA_EXAC	ss1711634193	Apr 09, 2015 (144)
11	EVA_EXAC	ss1711634194	Apr 09, 2015 (144)
12	GNOMAD	ss2731816851	Oct 11, 2018 (152)
13	GNOMAD	ss2731816852	Oct 11, 2018 (152)
14	GNOMAD	ss2731816853	Oct 11, 2018 (152)
15	GNOMAD	ss2746427486	Oct 11, 2018 (152)
16	GNOMAD	ss2746427487	Oct 11, 2018 (152)
17	GNOMAD	ss2746427488	Oct 11, 2018 (152)
18	GNOMAD	ss2760969441	Oct 11, 2018 (152)
19	GNOMAD	ss2760969442	Oct 11, 2018 (152)
20	GNOMAD	ss2760969443	Oct 11, 2018 (152)
21	SWEGEN	ss2987705011	Oct 11, 2018 (152)
22	MCHAISSO	ss3064423748	Nov 08, 2017 (151)
23	MCHAISSO	ss3065327165	Nov 08, 2017 (151)
24	URBANLAB	ss3646785228	Oct 11, 2018 (152)
25	EVA_DECODE	ss3687724316	Jul 12, 2019 (153)
26	EVA_DECODE	ss3687724317	Jul 12, 2019 (153)
27	EVA_DECODE	ss3687724318	Jul 12, 2019 (153)
28	EVA_DECODE	ss3687724319	Jul 12, 2019 (153)
29	EVA_DECODE	ss3687724320	Jul 12, 2019 (153)
30	EVA_DECODE	ss3687724321	Jul 12, 2019 (153)
31	PACBIO	ss3783557498	Jul 12, 2019 (153)
32	PACBIO	ss3789191088	Jul 12, 2019 (153)
33	PACBIO	ss3794063056	Jul 12, 2019 (153)
34	EVA	ss3986135551	Apr 25, 2021 (155)
35	GNOMAD	ss4003185358	Apr 25, 2021 (155)
36	GNOMAD	ss4003185359	Apr 25, 2021 (155)
37	GNOMAD	ss4003185361	Apr 25, 2021 (155)
38	GNOMAD	ss4003185362	Apr 25, 2021 (155)
39	GNOMAD	ss4003185363	Apr 25, 2021 (155)
40	GNOMAD	ss4003185364	Apr 25, 2021 (155)
41	GNOMAD	ss4003185365	Apr 25, 2021 (155)
42	GNOMAD	ss4003185366	Apr 25, 2021 (155)
43	GNOMAD	ss4003185367	Apr 25, 2021 (155)
44	GNOMAD	ss4003185369	Apr 25, 2021 (155)
45	GNOMAD	ss4003185370	Apr 25, 2021 (155)
46	GNOMAD	ss4003185371	Apr 25, 2021 (155)
47	GNOMAD	ss4003185372	Apr 25, 2021 (155)
48	GNOMAD	ss4003185373	Apr 25, 2021 (155)
49	TOMMO_GENOMICS	ss5146339107	Apr 25, 2021 (155)
50	TOMMO_GENOMICS	ss5146339114	Apr 25, 2021 (155)
51	TOMMO_GENOMICS	ss5146339115	Apr 25, 2021 (155)
52	TOMMO_GENOMICS	ss5146339116	Apr 25, 2021 (155)
53	1000G_HIGH_COVERAGE	ss5244189701	Oct 12, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5244189702	Oct 12, 2022 (156)
55	HUGCELL_USP	ss5444797841	Oct 12, 2022 (156)
56	HUGCELL_USP	ss5444797843	Oct 12, 2022 (156)
57	HUGCELL_USP	ss5444797844	Oct 12, 2022 (156)
58	EVA	ss5623996964	Oct 12, 2022 (156)
59	TOMMO_GENOMICS	ss5673487101	Oct 12, 2022 (156)
60	TOMMO_GENOMICS	ss5673487102	Oct 12, 2022 (156)
61	TOMMO_GENOMICS	ss5673487104	Oct 12, 2022 (156)
62	TOMMO_GENOMICS	ss5673487105	Oct 12, 2022 (156)
63	EVA	ss5849098252	Oct 12, 2022 (156)
64	EVA	ss5979987693	Oct 12, 2022 (156)
65	ExAC Submission ignored due to conflicting rows: Row 4968223 (NC_000001.10:150236311:TTCTT:TTCTT 104271/104274) Row 4968224 (NC_000001.10:150236311:TTCT:TTCT 104271/104274) Row 4968231 (NC_000001.10:150236314:TT: 2337/54946, NC_000001.10:150236314:TT:TT 52609/54946) Row 4968233 (NC_000001.10:150236314::T 5388/54946) Row 4968234 (NC_000001.10:150236314::TT 1079/54946) Row 4968235 (NC_000001.10:150236314::TTT 169/54946)	-	Oct 11, 2018 (152)
66	ExAC Submission ignored due to conflicting rows: Row 4968231 (NC_000001.10:150236314:TT: 2337/54946) Row 4968232 (NC_000001.10:150236314:T: 14900/54946) Row 4968233 (NC_000001.10:150236314::T 5388/54946)...	-	Apr 25, 2020 (154)
67	ExAC Submission ignored due to conflicting rows: Row 4968223 (NC_000001.10:150236311:TTCTT:TTCTT 104271/104274) Row 4968224 (NC_000001.10:150236311:TTCT:TTCT 104271/104274) Row 4968231 (NC_000001.10:150236314:TT: 2337/54946, NC_000001.10:150236314:TT:TT 52609/54946) Row 4968233 (NC_000001.10:150236314::T 5388/54946) Row 4968234 (NC_000001.10:150236314::TT 1079/54946) Row 4968235 (NC_000001.10:150236314::TTT 169/54946)	-	Oct 11, 2018 (152)
68	ExAC Submission ignored due to conflicting rows: Row 4968223 (NC_000001.10:150236311:TTCTT:TTCTT 104271/104274) Row 4968224 (NC_000001.10:150236311:TTCT:TTCT 104271/104274) Row 4968231 (NC_000001.10:150236314:TT: 2337/54946, NC_000001.10:150236314:TT:TT 52609/54946) Row 4968233 (NC_000001.10:150236314::T 5388/54946) Row 4968234 (NC_000001.10:150236314::TT 1079/54946) Row 4968235 (NC_000001.10:150236314::TTT 169/54946)	-	Oct 11, 2018 (152)
69	ExAC Submission ignored due to conflicting rows: Row 4968223 (NC_000001.10:150236311:TTCTT:TTCTT 104271/104274) Row 4968224 (NC_000001.10:150236311:TTCT:TTCT 104271/104274) Row 4968231 (NC_000001.10:150236314:TT: 2337/54946, NC_000001.10:150236314:TT:TT 52609/54946) Row 4968233 (NC_000001.10:150236314::T 5388/54946) Row 4968234 (NC_000001.10:150236314::TT 1079/54946) Row 4968235 (NC_000001.10:150236314::TTT 169/54946)	-	Oct 11, 2018 (152)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 26166215 (NC_000001.11:150263915::T 87857/119856) Row 26166216 (NC_000001.11:150263915::TT 15994/119952) Row 26166218 (NC_000001.11:150263915::TTT 370/120010)...	-	Apr 25, 2021 (155)
84	gnomAD - Exomes Submission ignored due to conflicting rows: Row 835102 (NC_000001.10:150236311:TTCT:TTCT 168904/168960) Row 835103 (NC_000001.10:150236311:TTCTT:TTCTT 168942/168960) Row 835106 (NC_000001.10:150236314::T 7560/89144)...	-	Jul 12, 2019 (153)
85	gnomAD - Exomes Submission ignored due to conflicting rows: Row 835102 (NC_000001.10:150236311:TTCT:TTCT 168904/168960) Row 835103 (NC_000001.10:150236311:TTCTT:TTCTT 168942/168960) Row 835106 (NC_000001.10:150236314::T 7560/89144)...	-	Jul 12, 2019 (153)
86	gnomAD - Exomes Submission ignored due to conflicting rows: Row 835106 (NC_000001.10:150236314::T 7560/89144) Row 835107 (NC_000001.10:150236314::TT 905/89144) Row 835109 (NC_000001.10:150236314:T: 24572/89144)...	-	Apr 25, 2020 (154)
87	gnomAD - Exomes Submission ignored due to conflicting rows: Row 835102 (NC_000001.10:150236311:TTCT:TTCT 168904/168960) Row 835103 (NC_000001.10:150236311:TTCTT:TTCTT 168942/168960) Row 835106 (NC_000001.10:150236314::T 7560/89144)...	-	Jul 12, 2019 (153)
88	gnomAD - Exomes Submission ignored due to conflicting rows: Row 835102 (NC_000001.10:150236311:TTCT:TTCT 168904/168960) Row 835103 (NC_000001.10:150236311:TTCTT:TTCTT 168942/168960) Row 835106 (NC_000001.10:150236314::T 7560/89144)...	-	Jul 12, 2019 (153)
89	8.3KJPN Submission ignored due to conflicting rows: Row 4308421 (NC_000001.10:150236314::T 640/16208) Row 4308422 (NC_000001.10:150236314:T: 28/16208) Row 4308423 (NC_000001.10:150236314:TTT: 6/16208)	-	Apr 25, 2021 (155)
90	8.3KJPN Submission ignored due to conflicting rows: Row 4308421 (NC_000001.10:150236314::T 640/16208) Row 4308422 (NC_000001.10:150236314:T: 28/16208) Row 4308423 (NC_000001.10:150236314:TTT: 6/16208)	-	Apr 25, 2021 (155)
91	8.3KJPN Submission ignored due to conflicting rows: Row 4308421 (NC_000001.10:150236314::T 640/16208) Row 4308422 (NC_000001.10:150236314:T: 28/16208) Row 4308423 (NC_000001.10:150236314:TTT: 6/16208)	-	Apr 25, 2021 (155)
92	14KJPN Submission ignored due to conflicting rows: Row 7324205 (NC_000001.11:150263915::TT 1249/27154) Row 7324206 (NC_000001.11:150263915::T 20947/27154) Row 7324208 (NC_000001.11:150263915:TT: 10/27154)...	-	Oct 12, 2022 (156)
93	14KJPN Submission ignored due to conflicting rows: Row 7324205 (NC_000001.11:150263915::TT 1249/27154) Row 7324206 (NC_000001.11:150263915::T 20947/27154) Row 7324208 (NC_000001.11:150263915:TT: 10/27154)...	-	Oct 12, 2022 (156)
94	14KJPN Submission ignored due to conflicting rows: Row 7324205 (NC_000001.11:150263915::TT 1249/27154) Row 7324206 (NC_000001.11:150263915::T 20947/27154) Row 7324208 (NC_000001.11:150263915:TT: 10/27154)...	-	Oct 12, 2022 (156)
95	14KJPN Submission ignored due to conflicting rows: Row 7324205 (NC_000001.11:150263915::TT 1249/27154) Row 7324206 (NC_000001.11:150263915::T 20947/27154) Row 7324208 (NC_000001.11:150263915:TT: 10/27154)...	-	Oct 12, 2022 (156)
96	ALFA	NC_000001.11 - 150263916	Apr 25, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4003185373	NC_000001.11:150263915:TTTTTTT:	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4003185372	NC_000001.11:150263915:TTTT:	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3687724316, ss4003185371	NC_000001.11:150263915:TTT:	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5146339116, ss5979987693	NC_000001.10:150236314:TTT:	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4003185370, ss5673487104	NC_000001.11:150263915:TT:	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss1711634192	NC_000001.10:150236314:TT:	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4003185369	NC_000001.11:150263915:T:	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3687724317	NC_000001.11:150263917:T:	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
4968224, 835102, ss1711634182	NC_000001.10:150236311:TTCT:TTCT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
4968223, 835103, ss1711634185	NC_000001.10:150236311:TTCTT:TTCTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss1711634192	NC_000001.10:150236314:TT:TT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5146339116, ss5979987693	NC_000001.10:150236314:TTT:TTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3064423748, ss3065327165, ss3646785228, ss4003185358, ss5244189701, ss5444797841, ss5673487102, ss5849098252	NC_000001.11:150263915::T	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3687724318	NC_000001.11:150263918::T	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss1711634191, ss3783557498, ss3789191088, ss3794063056, ss5146339114	NC_000001.10:150236314::T	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4003185359, ss5244189702, ss5444797843, ss5673487101	NC_000001.11:150263915::TT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3687724319	NC_000001.11:150263918::TT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss41332793	NT_004487.19:1724974::T	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss1711634193	NC_000001.10:150236314::TT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4003185361, ss5444797844, ss5673487105	NC_000001.11:150263915::TTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3687724320	NC_000001.11:150263918::TTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss1711634194	NC_000001.10:150236314::TTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4003185362	NC_000001.11:150263915::TTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4003185363	NC_000001.11:150263915::TTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4003185364	NC_000001.11:150263915::TTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4003185365	NC_000001.11:150263915::TTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
4425093246	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3687724321	NC_000001.11:150263918::TTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4003185366	NC_000001.11:150263915::TTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4003185367	NC_000001.11:150263915::TTTTTTTTTT… NC_000001.11:150263915::TTTTTTTTTTTT	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3091344646	NC_000001.11:150263915:TTTTT:	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT
ss3091344647	NC_000001.11:150263915:TTTTTT:	NC_000001.11:150263915:TTTTTTTTTTT… NC_000001.11:150263915:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT

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

No publications for rs34291619

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

rs34291619