Name: rs71164315
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.

rs71164315

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:17839739-17839757 (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)₁₆ / del(T)₁₄ / del(T)₁₃ / d…
del(T)₁₆ / del(T)₁₄ / del(T)₁₃ / del(T)₁₁ / del(T)₉ / del(T)₈ / 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)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₂
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.01451 (240/16538, ALFA)

Clinical Significance: Reported in ClinVar
Gene : Consequence: JAK3 : 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	16538	TTTTTTTTTTTTTTTTTTT=0.98313	TTT=0.00000, TTTTT=0.00000, TTTTTT=0.00000, TTTTTTTT=0.00000, TTTTTTTTTT=0.00163, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.01451, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00048, TTTTTTTTTTTTTTTTTTTTT=0.00024, TTTTTTTTTTTTTTTTTTTTTT=0.00000	0.973636	0.002673	0.023691	32
European	Sub	12714	TTTTTTTTTTTTTTTTTTT=0.97813	TTT=0.00000, TTTTT=0.00000, TTTTTT=0.00000, TTTTTTTT=0.00000, TTTTTTTTTT=0.00212, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.01880, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00063, TTTTTTTTTTTTTTTTTTTTT=0.00031, TTTTTTTTTTTTTTTTTTTTTT=0.00000	0.965817	0.003482	0.030701	32
African	Sub	2498	TTTTTTTTTTTTTTTTTTT=1.0000	TTT=0.0000, TTTTT=0.0000, TTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	100	TTTTTTTTTTTTTTTTTTT=1.00	TTT=0.00, TTTTT=0.00, TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	2398	TTTTTTTTTTTTTTTTTTT=1.0000	TTT=0.0000, TTTTT=0.0000, TTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	112	TTTTTTTTTTTTTTTTTTT=1.000	TTT=0.000, TTTTT=0.000, TTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	86	TTTTTTTTTTTTTTTTTTT=1.00	TTT=0.00, TTTTT=0.00, TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	26	TTTTTTTTTTTTTTTTTTT=1.00	TTT=0.00, TTTTT=0.00, TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	128	TTTTTTTTTTTTTTTTTTT=1.000	TTT=0.000, TTTTT=0.000, TTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	554	TTTTTTTTTTTTTTTTTTT=1.000	TTT=0.000, TTTTT=0.000, TTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	92	TTTTTTTTTTTTTTTTTTT=1.00	TTT=0.00, TTTTT=0.00, TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	440	TTTTTTTTTTTTTTTTTTT=0.998	TTT=0.000, TTTTT=0.000, TTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.002, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	0.995455	0.0	0.004545	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	16538	(T)₁₉=0.98313	del(T)₁₆=0.00000, del(T)₁₄=0.00000, del(T)₁₃=0.00000, del(T)₁₁=0.00000, del(T)₉=0.00163, 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=0.01451, dupTT=0.00024, dupTTT=0.00000, dup(T)₉=0.00048
Allele Frequency Aggregator	European	Sub	12714	(T)₁₉=0.97813	del(T)₁₆=0.00000, del(T)₁₄=0.00000, del(T)₁₃=0.00000, del(T)₁₁=0.00000, del(T)₉=0.00212, 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=0.01880, dupTT=0.00031, dupTTT=0.00000, dup(T)₉=0.00063
Allele Frequency Aggregator	African	Sub	2498	(T)₁₉=1.0000	del(T)₁₆=0.0000, del(T)₁₄=0.0000, del(T)₁₃=0.0000, del(T)₁₁=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)₉=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	554	(T)₁₉=1.000	del(T)₁₆=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₁=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)₉=0.000
Allele Frequency Aggregator	Other	Sub	440	(T)₁₉=0.998	del(T)₁₆=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₁=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=0.002, dupTT=0.000, dupTTT=0.000, dup(T)₉=0.000
Allele Frequency Aggregator	Latin American 1	Sub	128	(T)₁₉=1.000	del(T)₁₆=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₁=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)₉=0.000
Allele Frequency Aggregator	Asian	Sub	112	(T)₁₉=1.000	del(T)₁₆=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₁=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)₉=0.000
Allele Frequency Aggregator	South Asian	Sub	92	(T)₁₉=1.00	del(T)₁₆=0.00, del(T)₁₄=0.00, del(T)₁₃=0.00, del(T)₁₁=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)₉=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.17839742_17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839744_17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839745_17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839747_17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839749_17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839750_17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839751_17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839752_17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839753_17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839754_17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839755_17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839756_17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839757del
GRCh38.p14 chr 19	NC_000019.10:g.17839757dup
GRCh38.p14 chr 19	NC_000019.10:g.17839756_17839757dup
GRCh38.p14 chr 19	NC_000019.10:g.17839755_17839757dup
GRCh38.p14 chr 19	NC_000019.10:g.17839754_17839757dup
GRCh38.p14 chr 19	NC_000019.10:g.17839753_17839757dup
GRCh38.p14 chr 19	NC_000019.10:g.17839750_17839757dup
GRCh38.p14 chr 19	NC_000019.10:g.17839749_17839757dup
GRCh38.p14 chr 19	NC_000019.10:g.17839748_17839757dup
GRCh38.p14 chr 19	NC_000019.10:g.17839747_17839757dup
GRCh38.p14 chr 19	NC_000019.10:g.17839746_17839757dup
GRCh37.p13 chr 19	NC_000019.9:g.17950551_17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950553_17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950554_17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950556_17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950558_17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950559_17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950560_17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950561_17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950562_17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950563_17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950564_17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950565_17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950566del
GRCh37.p13 chr 19	NC_000019.9:g.17950566dup
GRCh37.p13 chr 19	NC_000019.9:g.17950565_17950566dup
GRCh37.p13 chr 19	NC_000019.9:g.17950564_17950566dup
GRCh37.p13 chr 19	NC_000019.9:g.17950563_17950566dup
GRCh37.p13 chr 19	NC_000019.9:g.17950562_17950566dup
GRCh37.p13 chr 19	NC_000019.9:g.17950559_17950566dup
GRCh37.p13 chr 19	NC_000019.9:g.17950558_17950566dup
GRCh37.p13 chr 19	NC_000019.9:g.17950557_17950566dup
GRCh37.p13 chr 19	NC_000019.9:g.17950556_17950566dup
GRCh37.p13 chr 19	NC_000019.9:g.17950555_17950566dup
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13238_13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13240_13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13241_13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13243_13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13245_13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13246_13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13247_13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13248_13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13249_13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13250_13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13251_13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13252_13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13253del
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13253dup
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13252_13253dup
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13251_13253dup
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13250_13253dup
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13249_13253dup
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13246_13253dup
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13245_13253dup
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13244_13253dup
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13243_13253dup
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13242_13253dup

Gene: JAK3, Janus kinase 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
JAK3 transcript	NM_000215.4:c.1255-91_125… NM_000215.4:c.1255-91_1255-76del	N/A	Intron Variant
JAK3 transcript variant X3	XM_011527991.3:c.1255-91_… XM_011527991.3:c.1255-91_1255-76del	N/A	Intron Variant
JAK3 transcript variant X1	XM_047438786.1:c.1255-91_… XM_047438786.1:c.1255-91_1255-76del	N/A	Intron Variant
JAK3 transcript variant X2	XR_007066796.1: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.

Allele: dupT (allele ID: 1212804 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001598036.3	not provided	Benign

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)₁₉=	del(T)₁₆	del(T)₁₄	del(T)₁₃	del(T)₁₁	del(T)₉	del(T)₈	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)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₁	dup(T)₁₂
GRCh38.p14 chr 19	NC_000019.10:g.17839739_17839757=	NC_000019.10:g.17839742_17839757del	NC_000019.10:g.17839744_17839757del	NC_000019.10:g.17839745_17839757del	NC_000019.10:g.17839747_17839757del	NC_000019.10:g.17839749_17839757del	NC_000019.10:g.17839750_17839757del	NC_000019.10:g.17839751_17839757del	NC_000019.10:g.17839752_17839757del	NC_000019.10:g.17839753_17839757del	NC_000019.10:g.17839754_17839757del	NC_000019.10:g.17839755_17839757del	NC_000019.10:g.17839756_17839757del	NC_000019.10:g.17839757del	NC_000019.10:g.17839757dup	NC_000019.10:g.17839756_17839757dup	NC_000019.10:g.17839755_17839757dup	NC_000019.10:g.17839754_17839757dup	NC_000019.10:g.17839753_17839757dup	NC_000019.10:g.17839750_17839757dup	NC_000019.10:g.17839749_17839757dup	NC_000019.10:g.17839748_17839757dup	NC_000019.10:g.17839747_17839757dup	NC_000019.10:g.17839746_17839757dup
GRCh37.p13 chr 19	NC_000019.9:g.17950548_17950566=	NC_000019.9:g.17950551_17950566del	NC_000019.9:g.17950553_17950566del	NC_000019.9:g.17950554_17950566del	NC_000019.9:g.17950556_17950566del	NC_000019.9:g.17950558_17950566del	NC_000019.9:g.17950559_17950566del	NC_000019.9:g.17950560_17950566del	NC_000019.9:g.17950561_17950566del	NC_000019.9:g.17950562_17950566del	NC_000019.9:g.17950563_17950566del	NC_000019.9:g.17950564_17950566del	NC_000019.9:g.17950565_17950566del	NC_000019.9:g.17950566del	NC_000019.9:g.17950566dup	NC_000019.9:g.17950565_17950566dup	NC_000019.9:g.17950564_17950566dup	NC_000019.9:g.17950563_17950566dup	NC_000019.9:g.17950562_17950566dup	NC_000019.9:g.17950559_17950566dup	NC_000019.9:g.17950558_17950566dup	NC_000019.9:g.17950557_17950566dup	NC_000019.9:g.17950556_17950566dup	NC_000019.9:g.17950555_17950566dup
JAK3 RefSeqGene (LRG_77)	NG_007273.1:g.13235_13253=	NG_007273.1:g.13238_13253del	NG_007273.1:g.13240_13253del	NG_007273.1:g.13241_13253del	NG_007273.1:g.13243_13253del	NG_007273.1:g.13245_13253del	NG_007273.1:g.13246_13253del	NG_007273.1:g.13247_13253del	NG_007273.1:g.13248_13253del	NG_007273.1:g.13249_13253del	NG_007273.1:g.13250_13253del	NG_007273.1:g.13251_13253del	NG_007273.1:g.13252_13253del	NG_007273.1:g.13253del	NG_007273.1:g.13253dup	NG_007273.1:g.13252_13253dup	NG_007273.1:g.13251_13253dup	NG_007273.1:g.13250_13253dup	NG_007273.1:g.13249_13253dup	NG_007273.1:g.13246_13253dup	NG_007273.1:g.13245_13253dup	NG_007273.1:g.13244_13253dup	NG_007273.1:g.13243_13253dup	NG_007273.1:g.13242_13253dup
JAK3 transcript	NM_000215.3:c.1255-76=	NM_000215.3:c.1255-91_1255-76del	NM_000215.3:c.1255-89_1255-76del	NM_000215.3:c.1255-88_1255-76del	NM_000215.3:c.1255-86_1255-76del	NM_000215.3:c.1255-84_1255-76del	NM_000215.3:c.1255-83_1255-76del	NM_000215.3:c.1255-82_1255-76del	NM_000215.3:c.1255-81_1255-76del	NM_000215.3:c.1255-80_1255-76del	NM_000215.3:c.1255-79_1255-76del	NM_000215.3:c.1255-78_1255-76del	NM_000215.3:c.1255-77_1255-76del	NM_000215.3:c.1255-76del	NM_000215.3:c.1255-76dup	NM_000215.3:c.1255-77_1255-76dup	NM_000215.3:c.1255-78_1255-76dup	NM_000215.3:c.1255-79_1255-76dup	NM_000215.3:c.1255-80_1255-76dup	NM_000215.3:c.1255-83_1255-76dup	NM_000215.3:c.1255-84_1255-76dup	NM_000215.3:c.1255-85_1255-76dup	NM_000215.3:c.1255-86_1255-76dup	NM_000215.3:c.1255-87_1255-76dup
JAK3 transcript	NM_000215.4:c.1255-76=	NM_000215.4:c.1255-91_1255-76del	NM_000215.4:c.1255-89_1255-76del	NM_000215.4:c.1255-88_1255-76del	NM_000215.4:c.1255-86_1255-76del	NM_000215.4:c.1255-84_1255-76del	NM_000215.4:c.1255-83_1255-76del	NM_000215.4:c.1255-82_1255-76del	NM_000215.4:c.1255-81_1255-76del	NM_000215.4:c.1255-80_1255-76del	NM_000215.4:c.1255-79_1255-76del	NM_000215.4:c.1255-78_1255-76del	NM_000215.4:c.1255-77_1255-76del	NM_000215.4:c.1255-76del	NM_000215.4:c.1255-76dup	NM_000215.4:c.1255-77_1255-76dup	NM_000215.4:c.1255-78_1255-76dup	NM_000215.4:c.1255-79_1255-76dup	NM_000215.4:c.1255-80_1255-76dup	NM_000215.4:c.1255-83_1255-76dup	NM_000215.4:c.1255-84_1255-76dup	NM_000215.4:c.1255-85_1255-76dup	NM_000215.4:c.1255-86_1255-76dup	NM_000215.4:c.1255-87_1255-76dup
JAK3 transcript variant X1	XM_005259896.1:c.1384-76=	XM_005259896.1:c.1384-91_1384-76del	XM_005259896.1:c.1384-89_1384-76del	XM_005259896.1:c.1384-88_1384-76del	XM_005259896.1:c.1384-86_1384-76del	XM_005259896.1:c.1384-84_1384-76del	XM_005259896.1:c.1384-83_1384-76del	XM_005259896.1:c.1384-82_1384-76del	XM_005259896.1:c.1384-81_1384-76del	XM_005259896.1:c.1384-80_1384-76del	XM_005259896.1:c.1384-79_1384-76del	XM_005259896.1:c.1384-78_1384-76del	XM_005259896.1:c.1384-77_1384-76del	XM_005259896.1:c.1384-76del	XM_005259896.1:c.1384-76dup	XM_005259896.1:c.1384-77_1384-76dup	XM_005259896.1:c.1384-78_1384-76dup	XM_005259896.1:c.1384-79_1384-76dup	XM_005259896.1:c.1384-80_1384-76dup	XM_005259896.1:c.1384-83_1384-76dup	XM_005259896.1:c.1384-84_1384-76dup	XM_005259896.1:c.1384-85_1384-76dup	XM_005259896.1:c.1384-86_1384-76dup	XM_005259896.1:c.1384-87_1384-76dup
JAK3 transcript variant X3	XM_011527991.3:c.1255-76=	XM_011527991.3:c.1255-91_1255-76del	XM_011527991.3:c.1255-89_1255-76del	XM_011527991.3:c.1255-88_1255-76del	XM_011527991.3:c.1255-86_1255-76del	XM_011527991.3:c.1255-84_1255-76del	XM_011527991.3:c.1255-83_1255-76del	XM_011527991.3:c.1255-82_1255-76del	XM_011527991.3:c.1255-81_1255-76del	XM_011527991.3:c.1255-80_1255-76del	XM_011527991.3:c.1255-79_1255-76del	XM_011527991.3:c.1255-78_1255-76del	XM_011527991.3:c.1255-77_1255-76del	XM_011527991.3:c.1255-76del	XM_011527991.3:c.1255-76dup	XM_011527991.3:c.1255-77_1255-76dup	XM_011527991.3:c.1255-78_1255-76dup	XM_011527991.3:c.1255-79_1255-76dup	XM_011527991.3:c.1255-80_1255-76dup	XM_011527991.3:c.1255-83_1255-76dup	XM_011527991.3:c.1255-84_1255-76dup	XM_011527991.3:c.1255-85_1255-76dup	XM_011527991.3:c.1255-86_1255-76dup	XM_011527991.3:c.1255-87_1255-76dup
JAK3 transcript variant X1	XM_047438786.1:c.1255-76=	XM_047438786.1:c.1255-91_1255-76del	XM_047438786.1:c.1255-89_1255-76del	XM_047438786.1:c.1255-88_1255-76del	XM_047438786.1:c.1255-86_1255-76del	XM_047438786.1:c.1255-84_1255-76del	XM_047438786.1:c.1255-83_1255-76del	XM_047438786.1:c.1255-82_1255-76del	XM_047438786.1:c.1255-81_1255-76del	XM_047438786.1:c.1255-80_1255-76del	XM_047438786.1:c.1255-79_1255-76del	XM_047438786.1:c.1255-78_1255-76del	XM_047438786.1:c.1255-77_1255-76del	XM_047438786.1:c.1255-76del	XM_047438786.1:c.1255-76dup	XM_047438786.1:c.1255-77_1255-76dup	XM_047438786.1:c.1255-78_1255-76dup	XM_047438786.1:c.1255-79_1255-76dup	XM_047438786.1:c.1255-80_1255-76dup	XM_047438786.1:c.1255-83_1255-76dup	XM_047438786.1:c.1255-84_1255-76dup	XM_047438786.1:c.1255-85_1255-76dup	XM_047438786.1:c.1255-86_1255-76dup	XM_047438786.1:c.1255-87_1255-76dup

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#.

53 SubSNP, 34 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95723736	Feb 13, 2009 (130)
2	PJP	ss294956200	May 09, 2011 (135)
3	1000GENOMES	ss1378020783	Aug 21, 2014 (142)
4	1000GENOMES	ss1378020784	Aug 21, 2014 (142)
5	SWEGEN	ss3017199790	Nov 08, 2017 (151)
6	EVA_DECODE	ss3702466503	Jul 13, 2019 (153)
7	EVA_DECODE	ss3702466504	Jul 13, 2019 (153)
8	EVA_DECODE	ss3702466505	Jul 13, 2019 (153)
9	EVA_DECODE	ss3702466506	Jul 13, 2019 (153)
10	EVA_DECODE	ss3702466507	Jul 13, 2019 (153)
11	EVA_DECODE	ss3702466508	Jul 13, 2019 (153)
12	KOGIC	ss3980979987	Apr 27, 2020 (154)
13	KOGIC	ss3980979988	Apr 27, 2020 (154)
14	KOGIC	ss3980979989	Apr 27, 2020 (154)
15	GNOMAD	ss4328648219	Apr 27, 2021 (155)
16	GNOMAD	ss4328648226	Apr 27, 2021 (155)
17	GNOMAD	ss4328648227	Apr 27, 2021 (155)
18	GNOMAD	ss4328648228	Apr 27, 2021 (155)
19	GNOMAD	ss4328648229	Apr 27, 2021 (155)
20	GNOMAD	ss4328648230	Apr 27, 2021 (155)
21	GNOMAD	ss4328648231	Apr 27, 2021 (155)
22	GNOMAD	ss4328648232	Apr 27, 2021 (155)
23	GNOMAD	ss4328648233	Apr 27, 2021 (155)
24	GNOMAD	ss4328648234	Apr 27, 2021 (155)
25	GNOMAD	ss4328648235	Apr 27, 2021 (155)
26	GNOMAD	ss4328648236	Apr 27, 2021 (155)
27	GNOMAD	ss4328648237	Apr 27, 2021 (155)
28	GNOMAD	ss4328648238	Apr 27, 2021 (155)
29	GNOMAD	ss4328648239	Apr 27, 2021 (155)
30	GNOMAD	ss4328648240	Apr 27, 2021 (155)
31	GNOMAD	ss4328648241	Apr 27, 2021 (155)
32	TOPMED	ss5069848607	Apr 27, 2021 (155)
33	TOPMED	ss5069848608	Apr 27, 2021 (155)
34	TOPMED	ss5069848609	Apr 27, 2021 (155)
35	TOPMED	ss5069848610	Apr 27, 2021 (155)
36	TOPMED	ss5069848611	Apr 27, 2021 (155)
37	TOMMO_GENOMICS	ss5227033249	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5227033250	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5227033251	Apr 27, 2021 (155)
40	TOMMO_GENOMICS	ss5227033252	Apr 27, 2021 (155)
41	HUGCELL_USP	ss5499308745	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5499308746	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5785415234	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5785415235	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5785415236	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5785415237	Oct 16, 2022 (156)
47	EVA	ss5800220730	Oct 16, 2022 (156)
48	EVA	ss5936397444	Oct 16, 2022 (156)
49	EVA	ss5936397445	Oct 16, 2022 (156)
50	EVA	ss5936397446	Oct 16, 2022 (156)
51	EVA	ss5936397447	Oct 16, 2022 (156)
52	EVA	ss5936397448	Oct 16, 2022 (156)
53	EVA	ss5936397449	Oct 16, 2022 (156)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535739260 (NC_000019.10:17839738::T 8441/119802) Row 535739267 (NC_000019.10:17839738::TT 168/119828) Row 535739268 (NC_000019.10:17839738::TTT 27/119834)...	-	Apr 27, 2021 (155)
71	Korean Genome Project Submission ignored due to conflicting rows: Row 37357988 (NC_000019.10:17839739:T: 190/1832) Row 37357989 (NC_000019.10:17839740::T 143/1832) Row 37357990 (NC_000019.10:17839738:TT: 16/1832)	-	Apr 27, 2020 (154)
72	Korean Genome Project Submission ignored due to conflicting rows: Row 37357988 (NC_000019.10:17839739:T: 190/1832) Row 37357989 (NC_000019.10:17839740::T 143/1832) Row 37357990 (NC_000019.10:17839738:TT: 16/1832)	-	Apr 27, 2020 (154)
73	Korean Genome Project Submission ignored due to conflicting rows: Row 37357988 (NC_000019.10:17839739:T: 190/1832) Row 37357989 (NC_000019.10:17839740::T 143/1832) Row 37357990 (NC_000019.10:17839738:TT: 16/1832)	-	Apr 27, 2020 (154)
74	8.3KJPN Submission ignored due to conflicting rows: Row 85002556 (NC_000019.9:17950547:TTTTTTT: 14/16714) Row 85002557 (NC_000019.9:17950547:T: 46/16714) Row 85002558 (NC_000019.9:17950547::T 19/16714)...	-	Apr 27, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 85002556 (NC_000019.9:17950547:TTTTTTT: 14/16714) Row 85002557 (NC_000019.9:17950547:T: 46/16714) Row 85002558 (NC_000019.9:17950547::T 19/16714)...	-	Apr 27, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 85002556 (NC_000019.9:17950547:TTTTTTT: 14/16714) Row 85002557 (NC_000019.9:17950547:T: 46/16714) Row 85002558 (NC_000019.9:17950547::T 19/16714)...	-	Apr 27, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 85002556 (NC_000019.9:17950547:TTTTTTT: 14/16714) Row 85002557 (NC_000019.9:17950547:T: 46/16714) Row 85002558 (NC_000019.9:17950547::T 19/16714)...	-	Apr 27, 2021 (155)
78	14KJPN Submission ignored due to conflicting rows: Row 119252338 (NC_000019.10:17839738:T: 75/27368) Row 119252339 (NC_000019.10:17839738:TTTTTTT: 21/27368) Row 119252340 (NC_000019.10:17839738::T 29/27368)...	-	Oct 16, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 119252338 (NC_000019.10:17839738:T: 75/27368) Row 119252339 (NC_000019.10:17839738:TTTTTTT: 21/27368) Row 119252340 (NC_000019.10:17839738::T 29/27368)...	-	Oct 16, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 119252338 (NC_000019.10:17839738:T: 75/27368) Row 119252339 (NC_000019.10:17839738:TTTTTTT: 21/27368) Row 119252340 (NC_000019.10:17839738::T 29/27368)...	-	Oct 16, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 119252338 (NC_000019.10:17839738:T: 75/27368) Row 119252339 (NC_000019.10:17839738:TTTTTTT: 21/27368) Row 119252340 (NC_000019.10:17839738::T 29/27368)...	-	Oct 16, 2022 (156)
82	TopMed Submission ignored due to conflicting rows: Row 285394271 (NC_000019.10:17839738:TTT: 1/264690) Row 285394272 (NC_000019.10:17839738:TTTTTTTTT: 739/264690) Row 285394273 (NC_000019.10:17839738:TTTTTTTTTTT: 3/264690)...	-	Apr 27, 2021 (155)
83	TopMed Submission ignored due to conflicting rows: Row 285394271 (NC_000019.10:17839738:TTT: 1/264690) Row 285394272 (NC_000019.10:17839738:TTTTTTTTT: 739/264690) Row 285394273 (NC_000019.10:17839738:TTTTTTTTTTT: 3/264690)...	-	Apr 27, 2021 (155)
84	TopMed Submission ignored due to conflicting rows: Row 285394271 (NC_000019.10:17839738:TTT: 1/264690) Row 285394272 (NC_000019.10:17839738:TTTTTTTTT: 739/264690) Row 285394273 (NC_000019.10:17839738:TTTTTTTTTTT: 3/264690)...	-	Apr 27, 2021 (155)
85	TopMed Submission ignored due to conflicting rows: Row 285394271 (NC_000019.10:17839738:TTT: 1/264690) Row 285394272 (NC_000019.10:17839738:TTTTTTTTT: 739/264690) Row 285394273 (NC_000019.10:17839738:TTTTTTTTTTT: 3/264690)...	-	Apr 27, 2021 (155)
86	TopMed Submission ignored due to conflicting rows: Row 285394271 (NC_000019.10:17839738:TTT: 1/264690) Row 285394272 (NC_000019.10:17839738:TTTTTTTTT: 739/264690) Row 285394273 (NC_000019.10:17839738:TTTTTTTTTTT: 3/264690)...	-	Apr 27, 2021 (155)
87	ALFA	NC_000019.10 - 17839739	Apr 27, 2021 (155)
88	ClinVar	RCV001598036.3	Oct 16, 2022 (156)

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)
rs139329580	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5069848611	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTT	(self)
ss4328648241, ss5069848610	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTT	(self)
ss5069848609	NC_000019.10:17839738:TTTTTTTTTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
ss3017199790, ss5227033252	NC_000019.9:17950547:TTTTTTTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss3702466503, ss4328648240, ss5069848608, ss5785415237	NC_000019.10:17839738:TTTTTTTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss5227033249	NC_000019.9:17950547:TTTTTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4328648239, ss5785415235	NC_000019.10:17839738:TTTTTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss5936397446	NC_000019.9:17950549:TTTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT
ss4328648238	NC_000019.10:17839738:TTTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5936397448	NC_000019.9:17950549:TTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
ss4328648237	NC_000019.10:17839738:TTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3702466504	NC_000019.10:17839743:TTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5936397449	NC_000019.9:17950549:TTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
ss4328648236, ss5069848607	NC_000019.10:17839738:TTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5800220730	NC_000019.9:17950547:TT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
ss5936397447	NC_000019.9:17950549:TT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
ss3980979989, ss4328648235	NC_000019.10:17839738:TT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3702466505	NC_000019.10:17839745:TT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5227033250	NC_000019.9:17950547:T:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4328648234, ss5499308746, ss5785415234	NC_000019.10:17839738:T:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3980979987	NC_000019.10:17839739:T:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3702466506	NC_000019.10:17839746:T:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss294956200	NC_000019.8:17811566::T	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss1378020783, ss5227033251	NC_000019.9:17950547::T	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4328648219, ss5499308745, ss5785415236	NC_000019.10:17839738::T	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
RCV001598036.3, 654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3980979988	NC_000019.10:17839740::T	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3702466507	NC_000019.10:17839747::T	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss95723736	NT_011295.11:9213368::T	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4328648226	NC_000019.10:17839738::TT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3702466508	NC_000019.10:17839747::TT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5936397444	NC_000019.9:17950547::TTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
ss4328648227	NC_000019.10:17839738::TTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss1378020784	NC_000019.9:17950547::TTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328648228	NC_000019.10:17839738::TTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328648229	NC_000019.10:17839738::TTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328648230	NC_000019.10:17839738::TTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328648231	NC_000019.10:17839738::TTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
654847718	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328648232	NC_000019.10:17839738::TTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4328648233	NC_000019.10:17839738::TTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5936397445	NC_000019.9:17950547::TTTTTTTTTTTT	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2390222228	NC_000019.9:17950547:TTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
ss2390222230	NC_000019.9:17950547:TTTTTTTTTTTTT… NC_000019.9:17950547:TTTTTTTTTTTTTT:	NC_000019.10:17839738:TTTTTTTTTTTT… NC_000019.10:17839738:TTTTTTTTTTTTTTTTTTT:TTTTT

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

No publications for rs71164315

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs71164315