Name: rs34108768
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.

rs34108768

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:72152845-72152868 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / d…
del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.1261 (1018/8070, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PMFBP1 : 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	8070	AAAAAAAAAAAAAAAAAAAAAAAA=0.8513	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.1261, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0201, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0022, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0002, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.768116	0.022774	0.20911	8
European	Sub	6678	AAAAAAAAAAAAAAAAAAAAAAAA=0.8206	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.1521, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0243, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0027, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0003, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.717803	0.027778	0.254419	2
African	Sub	696	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	30	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	666	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	82	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	64	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	48	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	344	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	44	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	178	AAAAAAAAAAAAAAAAAAAAAAAA=0.989	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.011, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	0.977528	0.0	0.022472	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	8070	(A)₂₄=0.8513	del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.1261, dupA=0.0201, dupAA=0.0022, dupAAA=0.0002, dup(A)₄=0.0000
Allele Frequency Aggregator	European	Sub	6678	(A)₂₄=0.8206	del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.1521, dupA=0.0243, dupAA=0.0027, dupAAA=0.0003, dup(A)₄=0.0000
Allele Frequency Aggregator	African	Sub	696	(A)₂₄=1.000	del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	344	(A)₂₄=1.000	del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Other	Sub	178	(A)₂₄=0.989	del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.011, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Asian	Sub	82	(A)₂₄=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	48	(A)₂₄=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	44	(A)₂₄=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=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 16	NC_000016.10:g.72152856_72152868del
GRCh38.p14 chr 16	NC_000016.10:g.72152857_72152868del
GRCh38.p14 chr 16	NC_000016.10:g.72152858_72152868del
GRCh38.p14 chr 16	NC_000016.10:g.72152859_72152868del
GRCh38.p14 chr 16	NC_000016.10:g.72152863_72152868del
GRCh38.p14 chr 16	NC_000016.10:g.72152864_72152868del
GRCh38.p14 chr 16	NC_000016.10:g.72152865_72152868del
GRCh38.p14 chr 16	NC_000016.10:g.72152866_72152868del
GRCh38.p14 chr 16	NC_000016.10:g.72152867_72152868del
GRCh38.p14 chr 16	NC_000016.10:g.72152868del
GRCh38.p14 chr 16	NC_000016.10:g.72152868dup
GRCh38.p14 chr 16	NC_000016.10:g.72152867_72152868dup
GRCh38.p14 chr 16	NC_000016.10:g.72152866_72152868dup
GRCh38.p14 chr 16	NC_000016.10:g.72152865_72152868dup
GRCh38.p14 chr 16	NC_000016.10:g.72152864_72152868dup
GRCh38.p14 chr 16	NC_000016.10:g.72152863_72152868dup
GRCh38.p14 chr 16	NC_000016.10:g.72152862_72152868dup
GRCh37.p13 chr 16	NC_000016.9:g.72186755_72186767del
GRCh37.p13 chr 16	NC_000016.9:g.72186756_72186767del
GRCh37.p13 chr 16	NC_000016.9:g.72186757_72186767del
GRCh37.p13 chr 16	NC_000016.9:g.72186758_72186767del
GRCh37.p13 chr 16	NC_000016.9:g.72186762_72186767del
GRCh37.p13 chr 16	NC_000016.9:g.72186763_72186767del
GRCh37.p13 chr 16	NC_000016.9:g.72186764_72186767del
GRCh37.p13 chr 16	NC_000016.9:g.72186765_72186767del
GRCh37.p13 chr 16	NC_000016.9:g.72186766_72186767del
GRCh37.p13 chr 16	NC_000016.9:g.72186767del
GRCh37.p13 chr 16	NC_000016.9:g.72186767dup
GRCh37.p13 chr 16	NC_000016.9:g.72186766_72186767dup
GRCh37.p13 chr 16	NC_000016.9:g.72186765_72186767dup
GRCh37.p13 chr 16	NC_000016.9:g.72186764_72186767dup
GRCh37.p13 chr 16	NC_000016.9:g.72186763_72186767dup
GRCh37.p13 chr 16	NC_000016.9:g.72186762_72186767dup
GRCh37.p13 chr 16	NC_000016.9:g.72186761_72186767dup

Gene: PMFBP1, polyamine modulated factor 1 binding protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PMFBP1 transcript variant 2	NM_001160213.2:c.-22+1354… NM_001160213.2:c.-22+1354_-22+1366del	N/A	Intron Variant
PMFBP1 transcript variant 1	NM_031293.3:c.414+1354_41… NM_031293.3:c.414+1354_414+1366del	N/A	Intron Variant
PMFBP1 transcript variant X1	XM_011523357.4:c.414+1354… XM_011523357.4:c.414+1354_414+1366del	N/A	Intron Variant
PMFBP1 transcript variant X2	XM_011523358.4:c.414+1354… XM_011523358.4:c.414+1354_414+1366del	N/A	Intron Variant
PMFBP1 transcript variant X3	XM_011523360.4:c.414+1354… XM_011523360.4:c.414+1354_414+1366del	N/A	Intron Variant
PMFBP1 transcript variant X4	XM_011523361.4:c.414+1354… XM_011523361.4:c.414+1354_414+1366del	N/A	Intron Variant
PMFBP1 transcript variant X5	XM_011523362.4:c.405+1354… XM_011523362.4:c.405+1354_405+1366del	N/A	Intron Variant
PMFBP1 transcript variant X6	XM_047434734.1:c.414+1354… XM_047434734.1:c.414+1354_414+1366del	N/A	Intron Variant
PMFBP1 transcript variant X7	XM_047434735.1:c.-55+1354… XM_047434735.1:c.-55+1354_-55+1366del	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(A)₂₄=	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇
GRCh38.p14 chr 16	NC_000016.10:g.72152845_72152868=	NC_000016.10:g.72152856_72152868del	NC_000016.10:g.72152857_72152868del	NC_000016.10:g.72152858_72152868del	NC_000016.10:g.72152859_72152868del	NC_000016.10:g.72152863_72152868del	NC_000016.10:g.72152864_72152868del	NC_000016.10:g.72152865_72152868del	NC_000016.10:g.72152866_72152868del	NC_000016.10:g.72152867_72152868del	NC_000016.10:g.72152868del	NC_000016.10:g.72152868dup	NC_000016.10:g.72152867_72152868dup	NC_000016.10:g.72152866_72152868dup	NC_000016.10:g.72152865_72152868dup	NC_000016.10:g.72152864_72152868dup	NC_000016.10:g.72152863_72152868dup	NC_000016.10:g.72152862_72152868dup
GRCh37.p13 chr 16	NC_000016.9:g.72186744_72186767=	NC_000016.9:g.72186755_72186767del	NC_000016.9:g.72186756_72186767del	NC_000016.9:g.72186757_72186767del	NC_000016.9:g.72186758_72186767del	NC_000016.9:g.72186762_72186767del	NC_000016.9:g.72186763_72186767del	NC_000016.9:g.72186764_72186767del	NC_000016.9:g.72186765_72186767del	NC_000016.9:g.72186766_72186767del	NC_000016.9:g.72186767del	NC_000016.9:g.72186767dup	NC_000016.9:g.72186766_72186767dup	NC_000016.9:g.72186765_72186767dup	NC_000016.9:g.72186764_72186767dup	NC_000016.9:g.72186763_72186767dup	NC_000016.9:g.72186762_72186767dup	NC_000016.9:g.72186761_72186767dup
PMFBP1 transcript variant 2	NM_001160213.1:c.-22+1366=	NM_001160213.1:c.-22+1354_-22+1366del	NM_001160213.1:c.-22+1355_-22+1366del	NM_001160213.1:c.-22+1356_-22+1366del	NM_001160213.1:c.-22+1357_-22+1366del	NM_001160213.1:c.-22+1361_-22+1366del	NM_001160213.1:c.-22+1362_-22+1366del	NM_001160213.1:c.-22+1363_-22+1366del	NM_001160213.1:c.-22+1364_-22+1366del	NM_001160213.1:c.-22+1365_-22+1366del	NM_001160213.1:c.-22+1366del	NM_001160213.1:c.-22+1366dup	NM_001160213.1:c.-22+1365_-22+1366dup	NM_001160213.1:c.-22+1364_-22+1366dup	NM_001160213.1:c.-22+1363_-22+1366dup	NM_001160213.1:c.-22+1362_-22+1366dup	NM_001160213.1:c.-22+1361_-22+1366dup	NM_001160213.1:c.-22+1360_-22+1366dup
PMFBP1 transcript variant 2	NM_001160213.2:c.-22+1366=	NM_001160213.2:c.-22+1354_-22+1366del	NM_001160213.2:c.-22+1355_-22+1366del	NM_001160213.2:c.-22+1356_-22+1366del	NM_001160213.2:c.-22+1357_-22+1366del	NM_001160213.2:c.-22+1361_-22+1366del	NM_001160213.2:c.-22+1362_-22+1366del	NM_001160213.2:c.-22+1363_-22+1366del	NM_001160213.2:c.-22+1364_-22+1366del	NM_001160213.2:c.-22+1365_-22+1366del	NM_001160213.2:c.-22+1366del	NM_001160213.2:c.-22+1366dup	NM_001160213.2:c.-22+1365_-22+1366dup	NM_001160213.2:c.-22+1364_-22+1366dup	NM_001160213.2:c.-22+1363_-22+1366dup	NM_001160213.2:c.-22+1362_-22+1366dup	NM_001160213.2:c.-22+1361_-22+1366dup	NM_001160213.2:c.-22+1360_-22+1366dup
PMFBP1 transcript variant 1	NM_031293.2:c.414+1366=	NM_031293.2:c.414+1354_414+1366del	NM_031293.2:c.414+1355_414+1366del	NM_031293.2:c.414+1356_414+1366del	NM_031293.2:c.414+1357_414+1366del	NM_031293.2:c.414+1361_414+1366del	NM_031293.2:c.414+1362_414+1366del	NM_031293.2:c.414+1363_414+1366del	NM_031293.2:c.414+1364_414+1366del	NM_031293.2:c.414+1365_414+1366del	NM_031293.2:c.414+1366del	NM_031293.2:c.414+1366dup	NM_031293.2:c.414+1365_414+1366dup	NM_031293.2:c.414+1364_414+1366dup	NM_031293.2:c.414+1363_414+1366dup	NM_031293.2:c.414+1362_414+1366dup	NM_031293.2:c.414+1361_414+1366dup	NM_031293.2:c.414+1360_414+1366dup
PMFBP1 transcript variant 1	NM_031293.3:c.414+1366=	NM_031293.3:c.414+1354_414+1366del	NM_031293.3:c.414+1355_414+1366del	NM_031293.3:c.414+1356_414+1366del	NM_031293.3:c.414+1357_414+1366del	NM_031293.3:c.414+1361_414+1366del	NM_031293.3:c.414+1362_414+1366del	NM_031293.3:c.414+1363_414+1366del	NM_031293.3:c.414+1364_414+1366del	NM_031293.3:c.414+1365_414+1366del	NM_031293.3:c.414+1366del	NM_031293.3:c.414+1366dup	NM_031293.3:c.414+1365_414+1366dup	NM_031293.3:c.414+1364_414+1366dup	NM_031293.3:c.414+1363_414+1366dup	NM_031293.3:c.414+1362_414+1366dup	NM_031293.3:c.414+1361_414+1366dup	NM_031293.3:c.414+1360_414+1366dup
PMFBP1 transcript variant X1	XM_005256186.1:c.414+1366=	XM_005256186.1:c.414+1354_414+1366del	XM_005256186.1:c.414+1355_414+1366del	XM_005256186.1:c.414+1356_414+1366del	XM_005256186.1:c.414+1357_414+1366del	XM_005256186.1:c.414+1361_414+1366del	XM_005256186.1:c.414+1362_414+1366del	XM_005256186.1:c.414+1363_414+1366del	XM_005256186.1:c.414+1364_414+1366del	XM_005256186.1:c.414+1365_414+1366del	XM_005256186.1:c.414+1366del	XM_005256186.1:c.414+1366dup	XM_005256186.1:c.414+1365_414+1366dup	XM_005256186.1:c.414+1364_414+1366dup	XM_005256186.1:c.414+1363_414+1366dup	XM_005256186.1:c.414+1362_414+1366dup	XM_005256186.1:c.414+1361_414+1366dup	XM_005256186.1:c.414+1360_414+1366dup
PMFBP1 transcript variant X2	XM_005256187.1:c.414+1366=	XM_005256187.1:c.414+1354_414+1366del	XM_005256187.1:c.414+1355_414+1366del	XM_005256187.1:c.414+1356_414+1366del	XM_005256187.1:c.414+1357_414+1366del	XM_005256187.1:c.414+1361_414+1366del	XM_005256187.1:c.414+1362_414+1366del	XM_005256187.1:c.414+1363_414+1366del	XM_005256187.1:c.414+1364_414+1366del	XM_005256187.1:c.414+1365_414+1366del	XM_005256187.1:c.414+1366del	XM_005256187.1:c.414+1366dup	XM_005256187.1:c.414+1365_414+1366dup	XM_005256187.1:c.414+1364_414+1366dup	XM_005256187.1:c.414+1363_414+1366dup	XM_005256187.1:c.414+1362_414+1366dup	XM_005256187.1:c.414+1361_414+1366dup	XM_005256187.1:c.414+1360_414+1366dup
PMFBP1 transcript variant X1	XM_011523357.4:c.414+1366=	XM_011523357.4:c.414+1354_414+1366del	XM_011523357.4:c.414+1355_414+1366del	XM_011523357.4:c.414+1356_414+1366del	XM_011523357.4:c.414+1357_414+1366del	XM_011523357.4:c.414+1361_414+1366del	XM_011523357.4:c.414+1362_414+1366del	XM_011523357.4:c.414+1363_414+1366del	XM_011523357.4:c.414+1364_414+1366del	XM_011523357.4:c.414+1365_414+1366del	XM_011523357.4:c.414+1366del	XM_011523357.4:c.414+1366dup	XM_011523357.4:c.414+1365_414+1366dup	XM_011523357.4:c.414+1364_414+1366dup	XM_011523357.4:c.414+1363_414+1366dup	XM_011523357.4:c.414+1362_414+1366dup	XM_011523357.4:c.414+1361_414+1366dup	XM_011523357.4:c.414+1360_414+1366dup
PMFBP1 transcript variant X2	XM_011523358.4:c.414+1366=	XM_011523358.4:c.414+1354_414+1366del	XM_011523358.4:c.414+1355_414+1366del	XM_011523358.4:c.414+1356_414+1366del	XM_011523358.4:c.414+1357_414+1366del	XM_011523358.4:c.414+1361_414+1366del	XM_011523358.4:c.414+1362_414+1366del	XM_011523358.4:c.414+1363_414+1366del	XM_011523358.4:c.414+1364_414+1366del	XM_011523358.4:c.414+1365_414+1366del	XM_011523358.4:c.414+1366del	XM_011523358.4:c.414+1366dup	XM_011523358.4:c.414+1365_414+1366dup	XM_011523358.4:c.414+1364_414+1366dup	XM_011523358.4:c.414+1363_414+1366dup	XM_011523358.4:c.414+1362_414+1366dup	XM_011523358.4:c.414+1361_414+1366dup	XM_011523358.4:c.414+1360_414+1366dup
PMFBP1 transcript variant X3	XM_011523360.4:c.414+1366=	XM_011523360.4:c.414+1354_414+1366del	XM_011523360.4:c.414+1355_414+1366del	XM_011523360.4:c.414+1356_414+1366del	XM_011523360.4:c.414+1357_414+1366del	XM_011523360.4:c.414+1361_414+1366del	XM_011523360.4:c.414+1362_414+1366del	XM_011523360.4:c.414+1363_414+1366del	XM_011523360.4:c.414+1364_414+1366del	XM_011523360.4:c.414+1365_414+1366del	XM_011523360.4:c.414+1366del	XM_011523360.4:c.414+1366dup	XM_011523360.4:c.414+1365_414+1366dup	XM_011523360.4:c.414+1364_414+1366dup	XM_011523360.4:c.414+1363_414+1366dup	XM_011523360.4:c.414+1362_414+1366dup	XM_011523360.4:c.414+1361_414+1366dup	XM_011523360.4:c.414+1360_414+1366dup
PMFBP1 transcript variant X4	XM_011523361.4:c.414+1366=	XM_011523361.4:c.414+1354_414+1366del	XM_011523361.4:c.414+1355_414+1366del	XM_011523361.4:c.414+1356_414+1366del	XM_011523361.4:c.414+1357_414+1366del	XM_011523361.4:c.414+1361_414+1366del	XM_011523361.4:c.414+1362_414+1366del	XM_011523361.4:c.414+1363_414+1366del	XM_011523361.4:c.414+1364_414+1366del	XM_011523361.4:c.414+1365_414+1366del	XM_011523361.4:c.414+1366del	XM_011523361.4:c.414+1366dup	XM_011523361.4:c.414+1365_414+1366dup	XM_011523361.4:c.414+1364_414+1366dup	XM_011523361.4:c.414+1363_414+1366dup	XM_011523361.4:c.414+1362_414+1366dup	XM_011523361.4:c.414+1361_414+1366dup	XM_011523361.4:c.414+1360_414+1366dup
PMFBP1 transcript variant X5	XM_011523362.4:c.405+1366=	XM_011523362.4:c.405+1354_405+1366del	XM_011523362.4:c.405+1355_405+1366del	XM_011523362.4:c.405+1356_405+1366del	XM_011523362.4:c.405+1357_405+1366del	XM_011523362.4:c.405+1361_405+1366del	XM_011523362.4:c.405+1362_405+1366del	XM_011523362.4:c.405+1363_405+1366del	XM_011523362.4:c.405+1364_405+1366del	XM_011523362.4:c.405+1365_405+1366del	XM_011523362.4:c.405+1366del	XM_011523362.4:c.405+1366dup	XM_011523362.4:c.405+1365_405+1366dup	XM_011523362.4:c.405+1364_405+1366dup	XM_011523362.4:c.405+1363_405+1366dup	XM_011523362.4:c.405+1362_405+1366dup	XM_011523362.4:c.405+1361_405+1366dup	XM_011523362.4:c.405+1360_405+1366dup
PMFBP1 transcript variant X6	XM_047434734.1:c.414+1366=	XM_047434734.1:c.414+1354_414+1366del	XM_047434734.1:c.414+1355_414+1366del	XM_047434734.1:c.414+1356_414+1366del	XM_047434734.1:c.414+1357_414+1366del	XM_047434734.1:c.414+1361_414+1366del	XM_047434734.1:c.414+1362_414+1366del	XM_047434734.1:c.414+1363_414+1366del	XM_047434734.1:c.414+1364_414+1366del	XM_047434734.1:c.414+1365_414+1366del	XM_047434734.1:c.414+1366del	XM_047434734.1:c.414+1366dup	XM_047434734.1:c.414+1365_414+1366dup	XM_047434734.1:c.414+1364_414+1366dup	XM_047434734.1:c.414+1363_414+1366dup	XM_047434734.1:c.414+1362_414+1366dup	XM_047434734.1:c.414+1361_414+1366dup	XM_047434734.1:c.414+1360_414+1366dup
PMFBP1 transcript variant X7	XM_047434735.1:c.-55+1366=	XM_047434735.1:c.-55+1354_-55+1366del	XM_047434735.1:c.-55+1355_-55+1366del	XM_047434735.1:c.-55+1356_-55+1366del	XM_047434735.1:c.-55+1357_-55+1366del	XM_047434735.1:c.-55+1361_-55+1366del	XM_047434735.1:c.-55+1362_-55+1366del	XM_047434735.1:c.-55+1363_-55+1366del	XM_047434735.1:c.-55+1364_-55+1366del	XM_047434735.1:c.-55+1365_-55+1366del	XM_047434735.1:c.-55+1366del	XM_047434735.1:c.-55+1366dup	XM_047434735.1:c.-55+1365_-55+1366dup	XM_047434735.1:c.-55+1364_-55+1366dup	XM_047434735.1:c.-55+1363_-55+1366dup	XM_047434735.1:c.-55+1362_-55+1366dup	XM_047434735.1:c.-55+1361_-55+1366dup	XM_047434735.1:c.-55+1360_-55+1366dup

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#.

44 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40656994	Dec 03, 2013 (142)
2	HGSV	ss77912713	Dec 06, 2007 (129)
3	HGSV	ss77946833	Dec 06, 2007 (129)
4	HGSV	ss82685545	Dec 14, 2007 (130)
5	HUMANGENOME_JCVI	ss95681343	Feb 04, 2009 (130)
6	PJP	ss294894897	May 09, 2011 (134)
7	SWEGEN	ss3014746345	Nov 08, 2017 (151)
8	EVA	ss3834637723	Apr 27, 2020 (154)
9	KOGIC	ss3977872466	Apr 27, 2020 (154)
10	KOGIC	ss3977872467	Apr 27, 2020 (154)
11	KOGIC	ss3977872468	Apr 27, 2020 (154)
12	KOGIC	ss3977872469	Apr 27, 2020 (154)
13	KOGIC	ss3977872470	Apr 27, 2020 (154)
14	GNOMAD	ss4303536849	Apr 26, 2021 (155)
15	GNOMAD	ss4303536850	Apr 26, 2021 (155)
16	GNOMAD	ss4303536851	Apr 26, 2021 (155)
17	GNOMAD	ss4303536852	Apr 26, 2021 (155)
18	GNOMAD	ss4303536853	Apr 26, 2021 (155)
19	GNOMAD	ss4303536854	Apr 26, 2021 (155)
20	GNOMAD	ss4303536855	Apr 26, 2021 (155)
21	GNOMAD	ss4303536856	Apr 26, 2021 (155)
22	GNOMAD	ss4303536857	Apr 26, 2021 (155)
23	GNOMAD	ss4303536858	Apr 26, 2021 (155)
24	GNOMAD	ss4303536859	Apr 26, 2021 (155)
25	GNOMAD	ss4303536860	Apr 26, 2021 (155)
26	GNOMAD	ss4303536861	Apr 26, 2021 (155)
27	GNOMAD	ss4303536862	Apr 26, 2021 (155)
28	TOPMED	ss5020426132	Apr 26, 2021 (155)
29	TOPMED	ss5020426133	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5220240350	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5220240351	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5220240352	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5220240353	Apr 26, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5301457883	Oct 16, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5301457884	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5301457886	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5494751452	Oct 16, 2022 (156)
38	HUGCELL_USP	ss5494751453	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5494751454	Oct 16, 2022 (156)
40	SANFORD_IMAGENETICS	ss5659178295	Oct 16, 2022 (156)
41	TOMMO_GENOMICS	ss5775446729	Oct 16, 2022 (156)
42	TOMMO_GENOMICS	ss5775446730	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5775446731	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5775446732	Oct 16, 2022 (156)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 493794460 (NC_000016.10:72152844::A 1524/58670) Row 493794461 (NC_000016.10:72152844::AA 124/59716) Row 493794462 (NC_000016.10:72152844::AAA 18/60072)...	-	Apr 26, 2021 (155)
59	Korean Genome Project Submission ignored due to conflicting rows: Row 34250467 (NC_000016.10:72152846:A: 311/1780) Row 34250468 (NC_000016.10:72152847::A 292/1780) Row 34250469 (NC_000016.10:72152847::AA 62/1780)...	-	Apr 27, 2020 (154)
60	Korean Genome Project Submission ignored due to conflicting rows: Row 34250467 (NC_000016.10:72152846:A: 311/1780) Row 34250468 (NC_000016.10:72152847::A 292/1780) Row 34250469 (NC_000016.10:72152847::AA 62/1780)...	-	Apr 27, 2020 (154)
61	Korean Genome Project Submission ignored due to conflicting rows: Row 34250467 (NC_000016.10:72152846:A: 311/1780) Row 34250468 (NC_000016.10:72152847::A 292/1780) Row 34250469 (NC_000016.10:72152847::AA 62/1780)...	-	Apr 27, 2020 (154)
62	Korean Genome Project Submission ignored due to conflicting rows: Row 34250467 (NC_000016.10:72152846:A: 311/1780) Row 34250468 (NC_000016.10:72152847::A 292/1780) Row 34250469 (NC_000016.10:72152847::AA 62/1780)...	-	Apr 27, 2020 (154)
63	Korean Genome Project Submission ignored due to conflicting rows: Row 34250467 (NC_000016.10:72152846:A: 311/1780) Row 34250468 (NC_000016.10:72152847::A 292/1780) Row 34250469 (NC_000016.10:72152847::AA 62/1780)...	-	Apr 27, 2020 (154)
64	8.3KJPN Submission ignored due to conflicting rows: Row 78209657 (NC_000016.9:72186743::A 256/16720) Row 78209658 (NC_000016.9:72186743::AA 89/16720) Row 78209659 (NC_000016.9:72186743:A: 793/16720)...	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 78209657 (NC_000016.9:72186743::A 256/16720) Row 78209658 (NC_000016.9:72186743::AA 89/16720) Row 78209659 (NC_000016.9:72186743:A: 793/16720)...	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 78209657 (NC_000016.9:72186743::A 256/16720) Row 78209658 (NC_000016.9:72186743::AA 89/16720) Row 78209659 (NC_000016.9:72186743:A: 793/16720)...	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 78209657 (NC_000016.9:72186743::A 256/16720) Row 78209658 (NC_000016.9:72186743::AA 89/16720) Row 78209659 (NC_000016.9:72186743:A: 793/16720)...	-	Apr 26, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 109283833 (NC_000016.10:72152844::A 294/28186) Row 109283834 (NC_000016.10:72152844::AA 153/28186) Row 109283835 (NC_000016.10:72152844:A: 1726/28186)...	-	Oct 16, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 109283833 (NC_000016.10:72152844::A 294/28186) Row 109283834 (NC_000016.10:72152844::AA 153/28186) Row 109283835 (NC_000016.10:72152844:A: 1726/28186)...	-	Oct 16, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 109283833 (NC_000016.10:72152844::A 294/28186) Row 109283834 (NC_000016.10:72152844::AA 153/28186) Row 109283835 (NC_000016.10:72152844:A: 1726/28186)...	-	Oct 16, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 109283833 (NC_000016.10:72152844::A 294/28186) Row 109283834 (NC_000016.10:72152844::AA 153/28186) Row 109283835 (NC_000016.10:72152844:A: 1726/28186)...	-	Oct 16, 2022 (156)
72	TopMed Submission ignored due to conflicting rows: Row 235971793 (NC_000016.10:72152844:AAAAAAAAAA: 1/264690) Row 235971794 (NC_000016.10:72152844:AAAAAAAAAAAA: 2/264690)	-	Apr 26, 2021 (155)
73	TopMed Submission ignored due to conflicting rows: Row 235971793 (NC_000016.10:72152844:AAAAAAAAAA: 1/264690) Row 235971794 (NC_000016.10:72152844:AAAAAAAAAAAA: 2/264690)	-	Apr 26, 2021 (155)
74	ALFA	NC_000016.10 - 72152845	Apr 26, 2021 (155)

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

Associated ID	History Updated (Build)
rs57134158	May 23, 2008 (130)
rs397854808	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4303536862	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAA:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4303536861, ss5020426133	NC_000016.10:72152844:AAAAAAAAAAAA:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4303536860	NC_000016.10:72152844:AAAAAAAAAAA:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4303536859, ss5020426132	NC_000016.10:72152844:AAAAAAAAAA:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4303536858	NC_000016.10:72152844:AAAA:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3977872470, ss4303536857	NC_000016.10:72152844:AAA:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3014746345, ss5220240353	NC_000016.9:72186743:AA:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4303536856, ss5301457886, ss5494751454, ss5775446732	NC_000016.10:72152844:AA:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3977872469	NC_000016.10:72152845:AA:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss77912713, ss77946833, ss82685545, ss294894897	NC_000016.8:70744267:A:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5220240352, ss5659178295	NC_000016.9:72186743:A:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5301457883, ss5494751452, ss5775446731	NC_000016.10:72152844:A:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3977872466	NC_000016.10:72152846:A:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss40656994, ss95681343	NT_010498.15:25800965:A:	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5220240350	NC_000016.9:72186743::A	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4303536849, ss5301457884, ss5494751453, ss5775446729	NC_000016.10:72152844::A	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3977872467	NC_000016.10:72152847::A	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3834637723, ss5220240351	NC_000016.9:72186743::AA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4303536850, ss5775446730	NC_000016.10:72152844::AA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3977872468	NC_000016.10:72152847::AA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4303536851	NC_000016.10:72152844::AAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4303536852	NC_000016.10:72152844::AAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
13223821133	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4303536853	NC_000016.10:72152844::AAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4303536854	NC_000016.10:72152844::AAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4303536855	NC_000016.10:72152844::AAAAAAA	NC_000016.10:72152844:AAAAAAAAAAAA… NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs34108768

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

rs34108768