Name: rs546074419
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.

rs546074419

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:33114798-33114820 (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)₁₃ / del(T)₁₂ / del(T)₁₁ / d…
del(T)₁₃ / del(T)₁₂ / del(T)₁₁ / del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₂ / dup(T)₁₄ / dup(T)₁₆ / dup(T)₁₉
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.04232 (552/13044, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GPATCH1 : 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	13044	TTTTTTTTTTTTTTTTTTTTTTT=0.91107	TTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTT=0.04232, TTTTTTTTTTTTTTTTTTTTTTTTT=0.03251, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00314, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00698, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00284, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00115	0.936606	0.019301	0.044093	32
European	Sub	11096	TTTTTTTTTTTTTTTTTTTTTTT=0.89573	TTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTT=0.04957, TTTTTTTTTTTTTTTTTTTTTTTTT=0.03812, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00370, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00820, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00333, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00135	0.924757	0.02303	0.052214	32
African	Sub	1340	TTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	44	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1296	TTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	42	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	30	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	12	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	72	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	214	TTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	42	TTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	238	TTTTTTTTTTTTTTTTTTTTTTT=0.987	TTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.008, TTTTTTTTTTTTTTTTTTTTTTTTT=0.004, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.983051	0.0	0.016949	0

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	13044	(T)₂₃=0.91107	del(T)₁₃=0.00000, del(T)₁₁=0.00000, del(T)₁₀=0.00000, del(T)₉=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.04232, dupTT=0.03251, dupTTT=0.00698, dup(T)₄=0.00314, dup(T)₆=0.00284, dup(T)₇=0.00115
Allele Frequency Aggregator	European	Sub	11096	(T)₂₃=0.89573	del(T)₁₃=0.00000, del(T)₁₁=0.00000, del(T)₁₀=0.00000, del(T)₉=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.04957, dupTT=0.03812, dupTTT=0.00820, dup(T)₄=0.00370, dup(T)₆=0.00333, dup(T)₇=0.00135
Allele Frequency Aggregator	African	Sub	1340	(T)₂₃=1.0000	del(T)₁₃=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000
Allele Frequency Aggregator	Other	Sub	238	(T)₂₃=0.987	del(T)₁₃=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.008, dupTT=0.004, dupTTT=0.000, dup(T)₄=0.000, dup(T)₆=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	Latin American 2	Sub	214	(T)₂₃=1.000	del(T)₁₃=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₆=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	72	(T)₂₃=1.00	del(T)₁₃=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=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)₆=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	42	(T)₂₃=1.00	del(T)₁₃=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=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)₆=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	Asian	Sub	42	(T)₂₃=1.00	del(T)₁₃=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=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)₆=0.00, dup(T)₇=0.00

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 19	NC_000019.10:g.33114808_33114820del
GRCh38.p14 chr 19	NC_000019.10:g.33114809_33114820del
GRCh38.p14 chr 19	NC_000019.10:g.33114810_33114820del
GRCh38.p14 chr 19	NC_000019.10:g.33114811_33114820del
GRCh38.p14 chr 19	NC_000019.10:g.33114812_33114820del
GRCh38.p14 chr 19	NC_000019.10:g.33114813_33114820del
GRCh38.p14 chr 19	NC_000019.10:g.33114814_33114820del
GRCh38.p14 chr 19	NC_000019.10:g.33114815_33114820del
GRCh38.p14 chr 19	NC_000019.10:g.33114817_33114820del
GRCh38.p14 chr 19	NC_000019.10:g.33114818_33114820del
GRCh38.p14 chr 19	NC_000019.10:g.33114819_33114820del
GRCh38.p14 chr 19	NC_000019.10:g.33114820del
GRCh38.p14 chr 19	NC_000019.10:g.33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114819_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114818_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114817_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114816_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114815_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114814_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114813_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114812_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114811_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114810_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114809_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114807_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114805_33114820dup
GRCh38.p14 chr 19	NC_000019.10:g.33114802_33114820dup
GRCh37.p13 chr 19	NC_000019.9:g.33605714_33605726del
GRCh37.p13 chr 19	NC_000019.9:g.33605715_33605726del
GRCh37.p13 chr 19	NC_000019.9:g.33605716_33605726del
GRCh37.p13 chr 19	NC_000019.9:g.33605717_33605726del
GRCh37.p13 chr 19	NC_000019.9:g.33605718_33605726del
GRCh37.p13 chr 19	NC_000019.9:g.33605719_33605726del
GRCh37.p13 chr 19	NC_000019.9:g.33605720_33605726del
GRCh37.p13 chr 19	NC_000019.9:g.33605721_33605726del
GRCh37.p13 chr 19	NC_000019.9:g.33605723_33605726del
GRCh37.p13 chr 19	NC_000019.9:g.33605724_33605726del
GRCh37.p13 chr 19	NC_000019.9:g.33605725_33605726del
GRCh37.p13 chr 19	NC_000019.9:g.33605726del
GRCh37.p13 chr 19	NC_000019.9:g.33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605725_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605724_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605723_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605722_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605721_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605720_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605719_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605718_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605717_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605716_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605715_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605713_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605711_33605726dup
GRCh37.p13 chr 19	NC_000019.9:g.33605708_33605726dup

Gene: GPATCH1, G-patch domain containing 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GPATCH1 transcript variant 1	NM_018025.3:c.2196+389_21… NM_018025.3:c.2196+389_2196+401del	N/A	Intron Variant
GPATCH1 transcript variant 2	NR_135270.2:n.	N/A	Intron Variant
GPATCH1 transcript variant X1	XM_006723255.5:c.	N/A	Genic Downstream 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	(T)₂₃=	del(T)₁₃	del(T)₁₂	del(T)₁₁	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₆	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₁	dup(T)₁₂	dup(T)₁₄	dup(T)₁₆	dup(T)₁₉
GRCh38.p14 chr 19	NC_000019.10:g.33114798_33114820=	NC_000019.10:g.33114808_33114820del	NC_000019.10:g.33114809_33114820del	NC_000019.10:g.33114810_33114820del	NC_000019.10:g.33114811_33114820del	NC_000019.10:g.33114812_33114820del	NC_000019.10:g.33114813_33114820del	NC_000019.10:g.33114814_33114820del	NC_000019.10:g.33114815_33114820del	NC_000019.10:g.33114817_33114820del	NC_000019.10:g.33114818_33114820del	NC_000019.10:g.33114819_33114820del	NC_000019.10:g.33114820del	NC_000019.10:g.33114820dup	NC_000019.10:g.33114819_33114820dup	NC_000019.10:g.33114818_33114820dup	NC_000019.10:g.33114817_33114820dup	NC_000019.10:g.33114816_33114820dup	NC_000019.10:g.33114815_33114820dup	NC_000019.10:g.33114814_33114820dup	NC_000019.10:g.33114813_33114820dup	NC_000019.10:g.33114812_33114820dup	NC_000019.10:g.33114811_33114820dup	NC_000019.10:g.33114810_33114820dup	NC_000019.10:g.33114809_33114820dup	NC_000019.10:g.33114807_33114820dup	NC_000019.10:g.33114805_33114820dup	NC_000019.10:g.33114802_33114820dup
GRCh37.p13 chr 19	NC_000019.9:g.33605704_33605726=	NC_000019.9:g.33605714_33605726del	NC_000019.9:g.33605715_33605726del	NC_000019.9:g.33605716_33605726del	NC_000019.9:g.33605717_33605726del	NC_000019.9:g.33605718_33605726del	NC_000019.9:g.33605719_33605726del	NC_000019.9:g.33605720_33605726del	NC_000019.9:g.33605721_33605726del	NC_000019.9:g.33605723_33605726del	NC_000019.9:g.33605724_33605726del	NC_000019.9:g.33605725_33605726del	NC_000019.9:g.33605726del	NC_000019.9:g.33605726dup	NC_000019.9:g.33605725_33605726dup	NC_000019.9:g.33605724_33605726dup	NC_000019.9:g.33605723_33605726dup	NC_000019.9:g.33605722_33605726dup	NC_000019.9:g.33605721_33605726dup	NC_000019.9:g.33605720_33605726dup	NC_000019.9:g.33605719_33605726dup	NC_000019.9:g.33605718_33605726dup	NC_000019.9:g.33605717_33605726dup	NC_000019.9:g.33605716_33605726dup	NC_000019.9:g.33605715_33605726dup	NC_000019.9:g.33605713_33605726dup	NC_000019.9:g.33605711_33605726dup	NC_000019.9:g.33605708_33605726dup
GPATCH1 transcript variant 1	NM_018025.2:c.2196+379=	NM_018025.2:c.2196+389_2196+401del	NM_018025.2:c.2196+390_2196+401del	NM_018025.2:c.2196+391_2196+401del	NM_018025.2:c.2196+392_2196+401del	NM_018025.2:c.2196+393_2196+401del	NM_018025.2:c.2196+394_2196+401del	NM_018025.2:c.2196+395_2196+401del	NM_018025.2:c.2196+396_2196+401del	NM_018025.2:c.2196+398_2196+401del	NM_018025.2:c.2196+399_2196+401del	NM_018025.2:c.2196+400_2196+401del	NM_018025.2:c.2196+401del	NM_018025.2:c.2196+401dup	NM_018025.2:c.2196+400_2196+401dup	NM_018025.2:c.2196+399_2196+401dup	NM_018025.2:c.2196+398_2196+401dup	NM_018025.2:c.2196+397_2196+401dup	NM_018025.2:c.2196+396_2196+401dup	NM_018025.2:c.2196+395_2196+401dup	NM_018025.2:c.2196+394_2196+401dup	NM_018025.2:c.2196+393_2196+401dup	NM_018025.2:c.2196+392_2196+401dup	NM_018025.2:c.2196+391_2196+401dup	NM_018025.2:c.2196+390_2196+401dup	NM_018025.2:c.2196+388_2196+401dup	NM_018025.2:c.2196+386_2196+401dup	NM_018025.2:c.2196+383_2196+401dup
GPATCH1 transcript variant 1	NM_018025.3:c.2196+379=	NM_018025.3:c.2196+389_2196+401del	NM_018025.3:c.2196+390_2196+401del	NM_018025.3:c.2196+391_2196+401del	NM_018025.3:c.2196+392_2196+401del	NM_018025.3:c.2196+393_2196+401del	NM_018025.3:c.2196+394_2196+401del	NM_018025.3:c.2196+395_2196+401del	NM_018025.3:c.2196+396_2196+401del	NM_018025.3:c.2196+398_2196+401del	NM_018025.3:c.2196+399_2196+401del	NM_018025.3:c.2196+400_2196+401del	NM_018025.3:c.2196+401del	NM_018025.3:c.2196+401dup	NM_018025.3:c.2196+400_2196+401dup	NM_018025.3:c.2196+399_2196+401dup	NM_018025.3:c.2196+398_2196+401dup	NM_018025.3:c.2196+397_2196+401dup	NM_018025.3:c.2196+396_2196+401dup	NM_018025.3:c.2196+395_2196+401dup	NM_018025.3:c.2196+394_2196+401dup	NM_018025.3:c.2196+393_2196+401dup	NM_018025.3:c.2196+392_2196+401dup	NM_018025.3:c.2196+391_2196+401dup	NM_018025.3:c.2196+390_2196+401dup	NM_018025.3:c.2196+388_2196+401dup	NM_018025.3:c.2196+386_2196+401dup	NM_018025.3:c.2196+383_2196+401dup

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#.

51 SubSNP, 35 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82831043	Aug 21, 2014 (142)
2	HGSV	ss83102754	Aug 21, 2014 (142)
3	SWEGEN	ss3017388418	Nov 08, 2017 (151)
4	SWEGEN	ss3017388419	Nov 08, 2017 (151)
5	SWEGEN	ss3017388420	Nov 08, 2017 (151)
6	SWEGEN	ss3017388421	Nov 08, 2017 (151)
7	PACBIO	ss3798316449	Jul 13, 2019 (153)
8	EVA	ss3835437433	Apr 27, 2020 (154)
9	GNOMAD	ss4330396285	Apr 26, 2021 (155)
10	GNOMAD	ss4330396286	Apr 26, 2021 (155)
11	GNOMAD	ss4330396287	Apr 26, 2021 (155)
12	GNOMAD	ss4330396288	Apr 26, 2021 (155)
13	GNOMAD	ss4330396289	Apr 26, 2021 (155)
14	GNOMAD	ss4330396290	Apr 26, 2021 (155)
15	GNOMAD	ss4330396291	Apr 26, 2021 (155)
16	GNOMAD	ss4330396292	Apr 26, 2021 (155)
17	GNOMAD	ss4330396293	Apr 26, 2021 (155)
18	GNOMAD	ss4330396294	Apr 26, 2021 (155)
19	GNOMAD	ss4330396295	Apr 26, 2021 (155)
20	GNOMAD	ss4330396296	Apr 26, 2021 (155)
21	GNOMAD	ss4330396297	Apr 26, 2021 (155)
22	GNOMAD	ss4330396299	Apr 26, 2021 (155)
23	GNOMAD	ss4330396300	Apr 26, 2021 (155)
24	GNOMAD	ss4330396301	Apr 26, 2021 (155)
25	GNOMAD	ss4330396302	Apr 26, 2021 (155)
26	GNOMAD	ss4330396303	Apr 26, 2021 (155)
27	GNOMAD	ss4330396304	Apr 26, 2021 (155)
28	GNOMAD	ss4330396305	Apr 26, 2021 (155)
29	TOPMED	ss5073211500	Apr 26, 2021 (155)
30	TOPMED	ss5073211501	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5227520089	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5227520090	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5227520091	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5227520092	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5227520093	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5227520094	Apr 26, 2021 (155)
37	1000G_HIGH_COVERAGE	ss5307074272	Oct 16, 2022 (156)
38	HUGCELL_USP	ss5499620938	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5499620939	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5499620940	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5499620941	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5499620942	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5786074537	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5786074538	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5786074539	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5786074540	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5786074541	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5786074542	Oct 16, 2022 (156)
49	EVA	ss5840483237	Oct 16, 2022 (156)
50	EVA	ss5840483238	Oct 16, 2022 (156)
51	EVA	ss5852269963	Oct 16, 2022 (156)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 538655729 (NC_000019.10:33114797::TTT 1330/81762) Row 538655730 (NC_000019.10:33114797::TTTT 264/81738) Row 538655731 (NC_000019.10:33114797::TTTTT 113/81724)...	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 85489396 (NC_000019.9:33605703::T 5863/16324) Row 85489397 (NC_000019.9:33605703::TT 242/16324) Row 85489398 (NC_000019.9:33605703::TTT 132/16324)...	-	Apr 26, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 85489396 (NC_000019.9:33605703::T 5863/16324) Row 85489397 (NC_000019.9:33605703::TT 242/16324) Row 85489398 (NC_000019.9:33605703::TTT 132/16324)...	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 85489396 (NC_000019.9:33605703::T 5863/16324) Row 85489397 (NC_000019.9:33605703::TT 242/16324) Row 85489398 (NC_000019.9:33605703::TTT 132/16324)...	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 85489396 (NC_000019.9:33605703::T 5863/16324) Row 85489397 (NC_000019.9:33605703::TT 242/16324) Row 85489398 (NC_000019.9:33605703::TTT 132/16324)...	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 85489396 (NC_000019.9:33605703::T 5863/16324) Row 85489397 (NC_000019.9:33605703::TT 242/16324) Row 85489398 (NC_000019.9:33605703::TTT 132/16324)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 85489396 (NC_000019.9:33605703::T 5863/16324) Row 85489397 (NC_000019.9:33605703::TT 242/16324) Row 85489398 (NC_000019.9:33605703::TTT 132/16324)...	-	Apr 26, 2021 (155)
78	14KJPN Submission ignored due to conflicting rows: Row 119911641 (NC_000019.10:33114797::T 9347/26746) Row 119911642 (NC_000019.10:33114797::TTT 191/26746) Row 119911643 (NC_000019.10:33114797::TT 256/26746)...	-	Oct 16, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 119911641 (NC_000019.10:33114797::T 9347/26746) Row 119911642 (NC_000019.10:33114797::TTT 191/26746) Row 119911643 (NC_000019.10:33114797::TT 256/26746)...	-	Oct 16, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 119911641 (NC_000019.10:33114797::T 9347/26746) Row 119911642 (NC_000019.10:33114797::TTT 191/26746) Row 119911643 (NC_000019.10:33114797::TT 256/26746)...	-	Oct 16, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 119911641 (NC_000019.10:33114797::T 9347/26746) Row 119911642 (NC_000019.10:33114797::TTT 191/26746) Row 119911643 (NC_000019.10:33114797::TT 256/26746)...	-	Oct 16, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 119911641 (NC_000019.10:33114797::T 9347/26746) Row 119911642 (NC_000019.10:33114797::TTT 191/26746) Row 119911643 (NC_000019.10:33114797::TT 256/26746)...	-	Oct 16, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 119911641 (NC_000019.10:33114797::T 9347/26746) Row 119911642 (NC_000019.10:33114797::TTT 191/26746) Row 119911643 (NC_000019.10:33114797::TT 256/26746)...	-	Oct 16, 2022 (156)
84	TopMed Submission ignored due to conflicting rows: Row 288757164 (NC_000019.10:33114797:TTTTTTTTT: 4/264690) Row 288757165 (NC_000019.10:33114797:TTTTTTTTTT: 4/264690)	-	Apr 26, 2021 (155)
85	TopMed Submission ignored due to conflicting rows: Row 288757164 (NC_000019.10:33114797:TTTTTTTTT: 4/264690) Row 288757165 (NC_000019.10:33114797:TTTTTTTTTT: 4/264690)	-	Apr 26, 2021 (155)
86	ALFA	NC_000019.10 - 33114798	Apr 26, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4330396305	NC_000019.10:33114797:TTTTTTTTTTTT:	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4330396304, ss5852269963	NC_000019.10:33114797:TTTTTTTTTTT:	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4330396303, ss5073211501	NC_000019.10:33114797:TTTTTTTTTT:	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss5073211500	NC_000019.10:33114797:TTTTTTTTT:	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4330396302	NC_000019.10:33114797:TTTT:	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4330396301	NC_000019.10:33114797:TTT:	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss82831043, ss83102754	NC_000019.8:38297564:TT:	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396300, ss5499620942	NC_000019.10:33114797:TT:	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5227520092	NC_000019.9:33605703:T:	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396299, ss5499620938, ss5786074540	NC_000019.10:33114797:T:	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3017388418, ss3798316449, ss5227520089	NC_000019.9:33605703::T	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5499620939, ss5786074537	NC_000019.10:33114797::T	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3017388419, ss5227520090, ss5840483237	NC_000019.9:33605703::TT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5499620940, ss5786074539	NC_000019.10:33114797::TT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3835437433, ss5227520091, ss5840483238	NC_000019.9:33605703::TTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396285, ss5307074272, ss5499620941, ss5786074538	NC_000019.10:33114797::TTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396286	NC_000019.10:33114797::TTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396287	NC_000019.10:33114797::TTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3017388421, ss5227520093	NC_000019.9:33605703::TTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396288, ss5786074542	NC_000019.10:33114797::TTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3017388420, ss5227520094	NC_000019.9:33605703::TTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396289, ss5786074541	NC_000019.10:33114797::TTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6768210431	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396290	NC_000019.10:33114797::TTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396291	NC_000019.10:33114797::TTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396292	NC_000019.10:33114797::TTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396293	NC_000019.10:33114797::TTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396294	NC_000019.10:33114797::TTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396295	NC_000019.10:33114797::TTTTTTTTTTT… NC_000019.10:33114797::TTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396296	NC_000019.10:33114797::TTTTTTTTTTT… NC_000019.10:33114797::TTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4330396297	NC_000019.10:33114797::TTTTTTTTTTT… NC_000019.10:33114797::TTTTTTTTTTTTTTTTTTT	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3292031938	NC_000019.10:33114797:TTTTTT:	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
ss3292031942	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTT:	NC_000019.10:33114797:TTTTTTTTTTTT… NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

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

No publications for rs546074419

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

rs546074419