Name: rs77519811
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.

rs77519811

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:130396365-130396380 (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)₄ / delTTT / delTT…
del(T)₇ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₉
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₇=0.000004 (1/264690, TOPMED)
dupT=0.04321 (488/11294, ALFA)
delT=0.1246 (624/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TMEM200A : 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	11294	TTTTTTTTTTTTTTTT=0.93049	TTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00044, TTTTTTTTTTTTTTT=0.02532, TTTTTTTTTTTTTTTTT=0.04321, TTTTTTTTTTTTTTTTTT=0.00053, TTTTTTTTTTTTTTTTTTT=0.00000	0.924627	0.009328	0.066045	32
European	Sub	9412	TTTTTTTTTTTTTTTT=0.9168	TTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0005, TTTTTTTTTTTTTTT=0.0303, TTTTTTTTTTTTTTTTT=0.0517, TTTTTTTTTTTTTTTTTT=0.0006, TTTTTTTTTTTTTTTTTTT=0.0000	0.908824	0.011312	0.079864	32
African	Sub	1016	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	28	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	988	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	96	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	76	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	90	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	366	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	62	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	252	TTTTTTTTTTTTTTTT=0.992	TTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.004, TTTTTTTTTTTTTTTTT=0.004, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	0.992	0.0	0.008	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
TopMed	Global	Study-wide	264690	(T)₁₆=0.999996	del(T)₇=0.000004
Allele Frequency Aggregator	Total	Global	11294	(T)₁₆=0.93049	del(T)₇=0.00000, del(T)₄=0.00000, delTT=0.00044, delT=0.02532, dupT=0.04321, dupTT=0.00053, dupTTT=0.00000
Allele Frequency Aggregator	European	Sub	9412	(T)₁₆=0.9168	del(T)₇=0.0000, del(T)₄=0.0000, delTT=0.0005, delT=0.0303, dupT=0.0517, dupTT=0.0006, dupTTT=0.0000
Allele Frequency Aggregator	African	Sub	1016	(T)₁₆=1.0000	del(T)₇=0.0000, del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	366	(T)₁₆=1.000	del(T)₇=0.000, del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	252	(T)₁₆=0.992	del(T)₇=0.000, del(T)₄=0.000, delTT=0.000, delT=0.004, dupT=0.004, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Asian	Sub	96	(T)₁₆=1.00	del(T)₇=0.00, del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	90	(T)₁₆=1.00	del(T)₇=0.00, del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	62	(T)₁₆=1.00	del(T)₇=0.00, del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₆=0.8754	delT=0.1246
1000Genomes	African	Sub	1322	(T)₁₆=0.9213	delT=0.0787
1000Genomes	East Asian	Sub	1008	(T)₁₆=0.8611	delT=0.1389
1000Genomes	Europe	Sub	1006	(T)₁₆=0.8598	delT=0.1402
1000Genomes	South Asian	Sub	978	(T)₁₆=0.848	delT=0.152
1000Genomes	American	Sub	694	(T)₁₆=0.870	delT=0.130

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 6	NC_000006.12:g.130396374_130396380del
GRCh38.p14 chr 6	NC_000006.12:g.130396377_130396380del
GRCh38.p14 chr 6	NC_000006.12:g.130396378_130396380del
GRCh38.p14 chr 6	NC_000006.12:g.130396379_130396380del
GRCh38.p14 chr 6	NC_000006.12:g.130396380del
GRCh38.p14 chr 6	NC_000006.12:g.130396380dup
GRCh38.p14 chr 6	NC_000006.12:g.130396379_130396380dup
GRCh38.p14 chr 6	NC_000006.12:g.130396378_130396380dup
GRCh38.p14 chr 6	NC_000006.12:g.130396372_130396380dup
GRCh37.p13 chr 6	NC_000006.11:g.130717519_130717525del
GRCh37.p13 chr 6	NC_000006.11:g.130717522_130717525del
GRCh37.p13 chr 6	NC_000006.11:g.130717523_130717525del
GRCh37.p13 chr 6	NC_000006.11:g.130717524_130717525del
GRCh37.p13 chr 6	NC_000006.11:g.130717525del
GRCh37.p13 chr 6	NC_000006.11:g.130717525dup
GRCh37.p13 chr 6	NC_000006.11:g.130717524_130717525dup
GRCh37.p13 chr 6	NC_000006.11:g.130717523_130717525dup
GRCh37.p13 chr 6	NC_000006.11:g.130717517_130717525dup

Gene: TMEM200A, transmembrane protein 200A (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM200A transcript variant 1	NM_001258276.2:c.-17+2985… NM_001258276.2:c.-17+29850_-17+29856del	N/A	Intron Variant
TMEM200A transcript variant 2	NM_001258277.2:c.-17+1113… NM_001258277.2:c.-17+11138_-17+11144del	N/A	Intron Variant
TMEM200A transcript variant 3	NM_001258278.2:c.	N/A	Genic Upstream Transcript Variant
TMEM200A transcript variant 4	NM_052913.3:c.	N/A	Genic Upstream Transcript Variant
TMEM200A transcript variant X4	XM_005266816.4:c.-148+111… XM_005266816.4:c.-148+11138_-148+11144del	N/A	Intron Variant
TMEM200A transcript variant X7	XM_017010230.3:c.-17+861_… XM_017010230.3:c.-17+861_-17+867del	N/A	Intron Variant
TMEM200A transcript variant X1	XM_047418151.1:c.-17+1113… XM_047418151.1:c.-17+11138_-17+11144del	N/A	Intron Variant
TMEM200A transcript variant X2	XM_047418152.1:c.-17+1113… XM_047418152.1:c.-17+11138_-17+11144del	N/A	Intron Variant
TMEM200A transcript variant X3	XM_047418153.1:c.-17+8782… XM_047418153.1:c.-17+8782_-17+8788del	N/A	Intron Variant
TMEM200A transcript variant X5	XM_047418154.1:c.-17+2985… XM_047418154.1:c.-17+29850_-17+29856del	N/A	Intron Variant
TMEM200A transcript variant X6	XM_047418155.1:c.-17+2985… XM_047418155.1:c.-17+29850_-17+29856del	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)₁₆=	del(T)₇	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₉
GRCh38.p14 chr 6	NC_000006.12:g.130396365_130396380=	NC_000006.12:g.130396374_130396380del	NC_000006.12:g.130396377_130396380del	NC_000006.12:g.130396378_130396380del	NC_000006.12:g.130396379_130396380del	NC_000006.12:g.130396380del	NC_000006.12:g.130396380dup	NC_000006.12:g.130396379_130396380dup	NC_000006.12:g.130396378_130396380dup	NC_000006.12:g.130396372_130396380dup
GRCh37.p13 chr 6	NC_000006.11:g.130717510_130717525=	NC_000006.11:g.130717519_130717525del	NC_000006.11:g.130717522_130717525del	NC_000006.11:g.130717523_130717525del	NC_000006.11:g.130717524_130717525del	NC_000006.11:g.130717525del	NC_000006.11:g.130717525dup	NC_000006.11:g.130717524_130717525dup	NC_000006.11:g.130717523_130717525dup	NC_000006.11:g.130717517_130717525dup
TMEM200A transcript variant 1	NM_001258276.1:c.-17+29841=	NM_001258276.1:c.-17+29850_-17+29856del	NM_001258276.1:c.-17+29853_-17+29856del	NM_001258276.1:c.-17+29854_-17+29856del	NM_001258276.1:c.-17+29855_-17+29856del	NM_001258276.1:c.-17+29856del	NM_001258276.1:c.-17+29856dup	NM_001258276.1:c.-17+29855_-17+29856dup	NM_001258276.1:c.-17+29854_-17+29856dup	NM_001258276.1:c.-17+29848_-17+29856dup
TMEM200A transcript variant 1	NM_001258276.2:c.-17+29841=	NM_001258276.2:c.-17+29850_-17+29856del	NM_001258276.2:c.-17+29853_-17+29856del	NM_001258276.2:c.-17+29854_-17+29856del	NM_001258276.2:c.-17+29855_-17+29856del	NM_001258276.2:c.-17+29856del	NM_001258276.2:c.-17+29856dup	NM_001258276.2:c.-17+29855_-17+29856dup	NM_001258276.2:c.-17+29854_-17+29856dup	NM_001258276.2:c.-17+29848_-17+29856dup
TMEM200A transcript variant 2	NM_001258277.1:c.-17+11129=	NM_001258277.1:c.-17+11138_-17+11144del	NM_001258277.1:c.-17+11141_-17+11144del	NM_001258277.1:c.-17+11142_-17+11144del	NM_001258277.1:c.-17+11143_-17+11144del	NM_001258277.1:c.-17+11144del	NM_001258277.1:c.-17+11144dup	NM_001258277.1:c.-17+11143_-17+11144dup	NM_001258277.1:c.-17+11142_-17+11144dup	NM_001258277.1:c.-17+11136_-17+11144dup
TMEM200A transcript variant 2	NM_001258277.2:c.-17+11129=	NM_001258277.2:c.-17+11138_-17+11144del	NM_001258277.2:c.-17+11141_-17+11144del	NM_001258277.2:c.-17+11142_-17+11144del	NM_001258277.2:c.-17+11143_-17+11144del	NM_001258277.2:c.-17+11144del	NM_001258277.2:c.-17+11144dup	NM_001258277.2:c.-17+11143_-17+11144dup	NM_001258277.2:c.-17+11142_-17+11144dup	NM_001258277.2:c.-17+11136_-17+11144dup
TMEM200A transcript variant X1	XM_005266816.1:c.-148+11129=	XM_005266816.1:c.-148+11138_-148+11144del	XM_005266816.1:c.-148+11141_-148+11144del	XM_005266816.1:c.-148+11142_-148+11144del	XM_005266816.1:c.-148+11143_-148+11144del	XM_005266816.1:c.-148+11144del	XM_005266816.1:c.-148+11144dup	XM_005266816.1:c.-148+11143_-148+11144dup	XM_005266816.1:c.-148+11142_-148+11144dup	XM_005266816.1:c.-148+11136_-148+11144dup
TMEM200A transcript variant X4	XM_005266816.4:c.-148+11129=	XM_005266816.4:c.-148+11138_-148+11144del	XM_005266816.4:c.-148+11141_-148+11144del	XM_005266816.4:c.-148+11142_-148+11144del	XM_005266816.4:c.-148+11143_-148+11144del	XM_005266816.4:c.-148+11144del	XM_005266816.4:c.-148+11144dup	XM_005266816.4:c.-148+11143_-148+11144dup	XM_005266816.4:c.-148+11142_-148+11144dup	XM_005266816.4:c.-148+11136_-148+11144dup
TMEM200A transcript variant X2	XM_005266817.1:c.-148+29841=	XM_005266817.1:c.-148+29850_-148+29856del	XM_005266817.1:c.-148+29853_-148+29856del	XM_005266817.1:c.-148+29854_-148+29856del	XM_005266817.1:c.-148+29855_-148+29856del	XM_005266817.1:c.-148+29856del	XM_005266817.1:c.-148+29856dup	XM_005266817.1:c.-148+29855_-148+29856dup	XM_005266817.1:c.-148+29854_-148+29856dup	XM_005266817.1:c.-148+29848_-148+29856dup
TMEM200A transcript variant X7	XM_017010230.3:c.-17+852=	XM_017010230.3:c.-17+861_-17+867del	XM_017010230.3:c.-17+864_-17+867del	XM_017010230.3:c.-17+865_-17+867del	XM_017010230.3:c.-17+866_-17+867del	XM_017010230.3:c.-17+867del	XM_017010230.3:c.-17+867dup	XM_017010230.3:c.-17+866_-17+867dup	XM_017010230.3:c.-17+865_-17+867dup	XM_017010230.3:c.-17+859_-17+867dup
TMEM200A transcript variant X1	XM_047418151.1:c.-17+11129=	XM_047418151.1:c.-17+11138_-17+11144del	XM_047418151.1:c.-17+11141_-17+11144del	XM_047418151.1:c.-17+11142_-17+11144del	XM_047418151.1:c.-17+11143_-17+11144del	XM_047418151.1:c.-17+11144del	XM_047418151.1:c.-17+11144dup	XM_047418151.1:c.-17+11143_-17+11144dup	XM_047418151.1:c.-17+11142_-17+11144dup	XM_047418151.1:c.-17+11136_-17+11144dup
TMEM200A transcript variant X2	XM_047418152.1:c.-17+11129=	XM_047418152.1:c.-17+11138_-17+11144del	XM_047418152.1:c.-17+11141_-17+11144del	XM_047418152.1:c.-17+11142_-17+11144del	XM_047418152.1:c.-17+11143_-17+11144del	XM_047418152.1:c.-17+11144del	XM_047418152.1:c.-17+11144dup	XM_047418152.1:c.-17+11143_-17+11144dup	XM_047418152.1:c.-17+11142_-17+11144dup	XM_047418152.1:c.-17+11136_-17+11144dup
TMEM200A transcript variant X3	XM_047418153.1:c.-17+8773=	XM_047418153.1:c.-17+8782_-17+8788del	XM_047418153.1:c.-17+8785_-17+8788del	XM_047418153.1:c.-17+8786_-17+8788del	XM_047418153.1:c.-17+8787_-17+8788del	XM_047418153.1:c.-17+8788del	XM_047418153.1:c.-17+8788dup	XM_047418153.1:c.-17+8787_-17+8788dup	XM_047418153.1:c.-17+8786_-17+8788dup	XM_047418153.1:c.-17+8780_-17+8788dup
TMEM200A transcript variant X5	XM_047418154.1:c.-17+29841=	XM_047418154.1:c.-17+29850_-17+29856del	XM_047418154.1:c.-17+29853_-17+29856del	XM_047418154.1:c.-17+29854_-17+29856del	XM_047418154.1:c.-17+29855_-17+29856del	XM_047418154.1:c.-17+29856del	XM_047418154.1:c.-17+29856dup	XM_047418154.1:c.-17+29855_-17+29856dup	XM_047418154.1:c.-17+29854_-17+29856dup	XM_047418154.1:c.-17+29848_-17+29856dup
TMEM200A transcript variant X6	XM_047418155.1:c.-17+29841=	XM_047418155.1:c.-17+29850_-17+29856del	XM_047418155.1:c.-17+29853_-17+29856del	XM_047418155.1:c.-17+29854_-17+29856del	XM_047418155.1:c.-17+29855_-17+29856del	XM_047418155.1:c.-17+29856del	XM_047418155.1:c.-17+29856dup	XM_047418155.1:c.-17+29855_-17+29856dup	XM_047418155.1:c.-17+29854_-17+29856dup	XM_047418155.1:c.-17+29848_-17+29856dup

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#.

38 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss103739035	Dec 01, 2009 (131)
2	SSIP	ss947180918	Aug 21, 2014 (142)
3	1000GENOMES	ss1376195633	Aug 21, 2014 (142)
4	SWEGEN	ss2999963247	Nov 17, 2017 (151)
5	EVA_DECODE	ss3718290910	Jul 13, 2019 (153)
6	EVA_DECODE	ss3718290911	Jul 13, 2019 (153)
7	EVA_DECODE	ss3718290912	Jul 13, 2019 (153)
8	EVA_DECODE	ss3718290913	Jul 13, 2019 (153)
9	EVA_DECODE	ss3718290914	Jul 13, 2019 (153)
10	ACPOP	ss3733989438	Jul 13, 2019 (153)
11	ACPOP	ss3733989439	Jul 13, 2019 (153)
12	PACBIO	ss3785623572	Jul 13, 2019 (153)
13	PACBIO	ss3790951411	Jul 13, 2019 (153)
14	PACBIO	ss3795830681	Jul 13, 2019 (153)
15	KHV_HUMAN_GENOMES	ss3808834219	Jul 13, 2019 (153)
16	EVA	ss3830195573	Apr 26, 2020 (154)
17	EVA	ss3838585442	Apr 26, 2020 (154)
18	EVA	ss3844035457	Apr 26, 2020 (154)
19	KOGIC	ss3960083170	Apr 26, 2020 (154)
20	KOGIC	ss3960083171	Apr 26, 2020 (154)
21	GNOMAD	ss4151541719	Apr 26, 2021 (155)
22	GNOMAD	ss4151541720	Apr 26, 2021 (155)
23	GNOMAD	ss4151541721	Apr 26, 2021 (155)
24	GNOMAD	ss4151541722	Apr 26, 2021 (155)
25	GNOMAD	ss4151541723	Apr 26, 2021 (155)
26	GNOMAD	ss4151541724	Apr 26, 2021 (155)
27	TOPMED	ss4722121461	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5179963842	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5179963843	Apr 26, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5270373772	Oct 13, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5270373773	Oct 13, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5270373774	Oct 13, 2022 (156)
33	HUGCELL_USP	ss5467812834	Oct 13, 2022 (156)
34	HUGCELL_USP	ss5467812835	Oct 13, 2022 (156)
35	HUGCELL_USP	ss5467812836	Oct 13, 2022 (156)
36	TOMMO_GENOMICS	ss5718857791	Oct 13, 2022 (156)
37	TOMMO_GENOMICS	ss5718857792	Oct 13, 2022 (156)
38	TOMMO_GENOMICS	ss5718857793	Oct 13, 2022 (156)
39	1000Genomes	NC_000006.11 - 130717510	Oct 12, 2018 (152)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 241325617 (NC_000006.12:130396364::T 29123/122712) Row 241325618 (NC_000006.12:130396364::TT 949/122790) Row 241325619 (NC_000006.12:130396364::TTT 2/122796)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 241325617 (NC_000006.12:130396364::T 29123/122712) Row 241325618 (NC_000006.12:130396364::TT 949/122790) Row 241325619 (NC_000006.12:130396364::TTT 2/122796)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 241325617 (NC_000006.12:130396364::T 29123/122712) Row 241325618 (NC_000006.12:130396364::TT 949/122790) Row 241325619 (NC_000006.12:130396364::TTT 2/122796)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 241325617 (NC_000006.12:130396364::T 29123/122712) Row 241325618 (NC_000006.12:130396364::TT 949/122790) Row 241325619 (NC_000006.12:130396364::TTT 2/122796)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 241325617 (NC_000006.12:130396364::T 29123/122712) Row 241325618 (NC_000006.12:130396364::TT 949/122790) Row 241325619 (NC_000006.12:130396364::TTT 2/122796)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 241325617 (NC_000006.12:130396364::T 29123/122712) Row 241325618 (NC_000006.12:130396364::TT 949/122790) Row 241325619 (NC_000006.12:130396364::TTT 2/122796)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 241325617 (NC_000006.12:130396364::T 29123/122712) Row 241325618 (NC_000006.12:130396364::TT 949/122790) Row 241325619 (NC_000006.12:130396364::TTT 2/122796)...	-	Apr 26, 2021 (155)
47	Korean Genome Project Submission ignored due to conflicting rows: Row 16461171 (NC_000006.12:130396365::T 217/1832) Row 16461172 (NC_000006.12:130396364:T: 251/1832)	-	Apr 26, 2020 (154)
48	Korean Genome Project Submission ignored due to conflicting rows: Row 16461171 (NC_000006.12:130396365::T 217/1832) Row 16461172 (NC_000006.12:130396364:T: 251/1832)	-	Apr 26, 2020 (154)
49	Northern Sweden Submission ignored due to conflicting rows: Row 7274303 (NC_000006.11:130717509::T 52/596) Row 7274304 (NC_000006.11:130717509:T: 39/596)	-	Jul 13, 2019 (153)
50	Northern Sweden Submission ignored due to conflicting rows: Row 7274303 (NC_000006.11:130717509::T 52/596) Row 7274304 (NC_000006.11:130717509:T: 39/596)	-	Jul 13, 2019 (153)
51	8.3KJPN Submission ignored due to conflicting rows: Row 37933149 (NC_000006.11:130717509:T: 915/16750) Row 37933150 (NC_000006.11:130717509::T 1060/16750)	-	Apr 26, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 37933149 (NC_000006.11:130717509:T: 915/16750) Row 37933150 (NC_000006.11:130717509::T 1060/16750)	-	Apr 26, 2021 (155)
53	14KJPN Submission ignored due to conflicting rows: Row 52694895 (NC_000006.12:130396364::T 1778/28258) Row 52694896 (NC_000006.12:130396364:T: 1537/28258) Row 52694897 (NC_000006.12:130396364:TTT: 1/28258)	-	Oct 13, 2022 (156)
54	14KJPN Submission ignored due to conflicting rows: Row 52694895 (NC_000006.12:130396364::T 1778/28258) Row 52694896 (NC_000006.12:130396364:T: 1537/28258) Row 52694897 (NC_000006.12:130396364:TTT: 1/28258)	-	Oct 13, 2022 (156)
55	14KJPN Submission ignored due to conflicting rows: Row 52694895 (NC_000006.12:130396364::T 1778/28258) Row 52694896 (NC_000006.12:130396364:T: 1537/28258) Row 52694897 (NC_000006.12:130396364:TTT: 1/28258)	-	Oct 13, 2022 (156)
56	TopMed	NC_000006.12 - 130396365	Apr 26, 2021 (155)
57	ALFA	NC_000006.12 - 130396365	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
559499019, ss4151541724, ss4722121461	NC_000006.12:130396364:TTTTTTT:	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
15227612870	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4151541723	NC_000006.12:130396364:TTTT:	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
15227612870	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss5718857793	NC_000006.12:130396364:TTT:	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT
ss103739035	NT_025741.15:34886979:TTT:	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss2999963247	NC_000006.11:130717509:TT:	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3718290910, ss4151541722	NC_000006.12:130396364:TT:	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
15227612870	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
34170146, ss1376195633, ss3733989439, ss5179963842	NC_000006.11:130717509:T:	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3808834219, ss3960083171, ss5270373774, ss5467812834, ss5718857792	NC_000006.12:130396364:T:	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
15227612870	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3718290911	NC_000006.12:130396365:T:	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3733989438, ss3785623572, ss3790951411, ss3795830681, ss3830195573, ss3838585442, ss5179963843	NC_000006.11:130717509::T	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss947180918	NC_000006.11:130717510::T	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3844035457, ss4151541719, ss5270373772, ss5467812835, ss5718857791	NC_000006.12:130396364::T	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
15227612870	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3960083170	NC_000006.12:130396365::T	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3718290912	NC_000006.12:130396366::T	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4151541720, ss5270373773, ss5467812836	NC_000006.12:130396364::TT	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
15227612870	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3718290913	NC_000006.12:130396366::TT	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4151541721	NC_000006.12:130396364::TTT	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
15227612870	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3718290914	NC_000006.12:130396366::TTTTTTTTT	NC_000006.12:130396364:TTTTTTTTTTT… NC_000006.12:130396364:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)

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

No publications for rs77519811

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

rs77519811