Name: rs60867672
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.

rs60867672

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:48993860-48993880 (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)₁₂ / del(A)₁₁ / del(A)₈ / de…
del(A)₁₂ / del(A)₁₁ / del(A)₈ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₂ / insAC(A)₂₉
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₂=0.0000 (0/8812, ALFA)
del(A)₁₁=0.0000 (0/8812, ALFA)
del(A)₄=0.0000 (0/8812, ALFA) (+ 7 more)
delAAA=0.0000 (0/8812, ALFA)
delAA=0.0000 (0/8812, ALFA)
delA=0.0000 (0/8812, ALFA)
dupA=0.0000 (0/8812, ALFA)
dupAA=0.0000 (0/8812, ALFA)
dupAAA=0.0000 (0/8812, ALFA)
dup(A)₄=0.0000 (0/8812, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: P4HTM : 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	HWEP
Total	Global	8812	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	6096	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	1540	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	50	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1490	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	92	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	76	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	16	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	118	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Latin American 2	Sub	524	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	88	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	354	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A

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	8812	(A)₂₁=1.0000	del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000
Allele Frequency Aggregator	European	Sub	6096	(A)₂₁=1.0000	del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000
Allele Frequency Aggregator	African	Sub	1540	(A)₂₁=1.0000	del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	524	(A)₂₁=1.000	del(A)₁₂=0.000, del(A)₁₁=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	354	(A)₂₁=1.000	del(A)₁₂=0.000, del(A)₁₁=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 1	Sub	118	(A)₂₁=1.000	del(A)₁₂=0.000, del(A)₁₁=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	Asian	Sub	92	(A)₂₁=1.00	del(A)₁₂=0.00, del(A)₁₁=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	88	(A)₂₁=1.00	del(A)₁₂=0.00, del(A)₁₁=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 3	NC_000003.12:g.48993869_48993880del
GRCh38.p14 chr 3	NC_000003.12:g.48993870_48993880del
GRCh38.p14 chr 3	NC_000003.12:g.48993873_48993880del
GRCh38.p14 chr 3	NC_000003.12:g.48993877_48993880del
GRCh38.p14 chr 3	NC_000003.12:g.48993878_48993880del
GRCh38.p14 chr 3	NC_000003.12:g.48993879_48993880del
GRCh38.p14 chr 3	NC_000003.12:g.48993880del
GRCh38.p14 chr 3	NC_000003.12:g.48993880dup
GRCh38.p14 chr 3	NC_000003.12:g.48993879_48993880dup
GRCh38.p14 chr 3	NC_000003.12:g.48993878_48993880dup
GRCh38.p14 chr 3	NC_000003.12:g.48993877_48993880dup
GRCh38.p14 chr 3	NC_000003.12:g.48993876_48993880dup
GRCh38.p14 chr 3	NC_000003.12:g.48993875_48993880dup
GRCh38.p14 chr 3	NC_000003.12:g.48993874_48993880dup
GRCh38.p14 chr 3	NC_000003.12:g.48993873_48993880dup
GRCh38.p14 chr 3	NC_000003.12:g.48993872_48993880dup
GRCh38.p14 chr 3	NC_000003.12:g.48993871_48993880dup
GRCh38.p14 chr 3	NC_000003.12:g.48993870_48993880dup
GRCh38.p14 chr 3	NC_000003.12:g.48993869_48993880dup
GRCh38.p14 chr 3	NC_000003.12:g.48993860_48993880A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 3	NC_000003.11:g.49031302_49031313del
GRCh37.p13 chr 3	NC_000003.11:g.49031303_49031313del
GRCh37.p13 chr 3	NC_000003.11:g.49031306_49031313del
GRCh37.p13 chr 3	NC_000003.11:g.49031310_49031313del
GRCh37.p13 chr 3	NC_000003.11:g.49031311_49031313del
GRCh37.p13 chr 3	NC_000003.11:g.49031312_49031313del
GRCh37.p13 chr 3	NC_000003.11:g.49031313del
GRCh37.p13 chr 3	NC_000003.11:g.49031313dup
GRCh37.p13 chr 3	NC_000003.11:g.49031312_49031313dup
GRCh37.p13 chr 3	NC_000003.11:g.49031311_49031313dup
GRCh37.p13 chr 3	NC_000003.11:g.49031310_49031313dup
GRCh37.p13 chr 3	NC_000003.11:g.49031309_49031313dup
GRCh37.p13 chr 3	NC_000003.11:g.49031308_49031313dup
GRCh37.p13 chr 3	NC_000003.11:g.49031307_49031313dup
GRCh37.p13 chr 3	NC_000003.11:g.49031306_49031313dup
GRCh37.p13 chr 3	NC_000003.11:g.49031305_49031313dup
GRCh37.p13 chr 3	NC_000003.11:g.49031304_49031313dup
GRCh37.p13 chr 3	NC_000003.11:g.49031303_49031313dup
GRCh37.p13 chr 3	NC_000003.11:g.49031302_49031313dup
GRCh37.p13 chr 3	NC_000003.11:g.49031293_49031313A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Gene: P4HTM, prolyl 4-hydroxylase, transmembrane (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
P4HTM transcript variant 3	NM_177938.2:c.436+2955_43… NM_177938.2:c.436+2955_436+2966del	N/A	Intron Variant
P4HTM transcript variant 1	NM_177939.3:c.436+2955_43… NM_177939.3:c.436+2955_436+2966del	N/A	Intron Variant
P4HTM transcript variant X2	XM_047448367.1:c.436+2955… XM_047448367.1:c.436+2955_436+2966del	N/A	Intron Variant
P4HTM transcript variant X3	XM_047448368.1:c.	N/A	Genic Upstream Transcript Variant
P4HTM transcript variant X1	XR_007095696.1: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.

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)₂₁=	del(A)₁₂	del(A)₁₁	del(A)₈	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₁	dup(A)₁₂	insAC(A)₂₉
GRCh38.p14 chr 3	NC_000003.12:g.48993860_48993880=	NC_000003.12:g.48993869_48993880del	NC_000003.12:g.48993870_48993880del	NC_000003.12:g.48993873_48993880del	NC_000003.12:g.48993877_48993880del	NC_000003.12:g.48993878_48993880del	NC_000003.12:g.48993879_48993880del	NC_000003.12:g.48993880del	NC_000003.12:g.48993880dup	NC_000003.12:g.48993879_48993880dup	NC_000003.12:g.48993878_48993880dup	NC_000003.12:g.48993877_48993880dup	NC_000003.12:g.48993876_48993880dup	NC_000003.12:g.48993875_48993880dup	NC_000003.12:g.48993874_48993880dup	NC_000003.12:g.48993873_48993880dup	NC_000003.12:g.48993872_48993880dup	NC_000003.12:g.48993871_48993880dup	NC_000003.12:g.48993870_48993880dup	NC_000003.12:g.48993869_48993880dup	NC_000003.12:g.48993860_48993880A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 3	NC_000003.11:g.49031293_49031313=	NC_000003.11:g.49031302_49031313del	NC_000003.11:g.49031303_49031313del	NC_000003.11:g.49031306_49031313del	NC_000003.11:g.49031310_49031313del	NC_000003.11:g.49031311_49031313del	NC_000003.11:g.49031312_49031313del	NC_000003.11:g.49031313del	NC_000003.11:g.49031313dup	NC_000003.11:g.49031312_49031313dup	NC_000003.11:g.49031311_49031313dup	NC_000003.11:g.49031310_49031313dup	NC_000003.11:g.49031309_49031313dup	NC_000003.11:g.49031308_49031313dup	NC_000003.11:g.49031307_49031313dup	NC_000003.11:g.49031306_49031313dup	NC_000003.11:g.49031305_49031313dup	NC_000003.11:g.49031304_49031313dup	NC_000003.11:g.49031303_49031313dup	NC_000003.11:g.49031302_49031313dup	NC_000003.11:g.49031293_49031313A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
P4HTM transcript variant 3	NM_177938.2:c.436+2946=	NM_177938.2:c.436+2955_436+2966del	NM_177938.2:c.436+2956_436+2966del	NM_177938.2:c.436+2959_436+2966del	NM_177938.2:c.436+2963_436+2966del	NM_177938.2:c.436+2964_436+2966del	NM_177938.2:c.436+2965_436+2966del	NM_177938.2:c.436+2966del	NM_177938.2:c.436+2966dup	NM_177938.2:c.436+2965_436+2966dup	NM_177938.2:c.436+2964_436+2966dup	NM_177938.2:c.436+2963_436+2966dup	NM_177938.2:c.436+2962_436+2966dup	NM_177938.2:c.436+2961_436+2966dup	NM_177938.2:c.436+2960_436+2966dup	NM_177938.2:c.436+2959_436+2966dup	NM_177938.2:c.436+2958_436+2966dup	NM_177938.2:c.436+2957_436+2966dup	NM_177938.2:c.436+2956_436+2966dup	NM_177938.2:c.436+2955_436+2966dup	NM_177938.2:c.436+2966_436+2967insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
P4HTM transcript variant 1	NM_177939.2:c.436+2946=	NM_177939.2:c.436+2955_436+2966del	NM_177939.2:c.436+2956_436+2966del	NM_177939.2:c.436+2959_436+2966del	NM_177939.2:c.436+2963_436+2966del	NM_177939.2:c.436+2964_436+2966del	NM_177939.2:c.436+2965_436+2966del	NM_177939.2:c.436+2966del	NM_177939.2:c.436+2966dup	NM_177939.2:c.436+2965_436+2966dup	NM_177939.2:c.436+2964_436+2966dup	NM_177939.2:c.436+2963_436+2966dup	NM_177939.2:c.436+2962_436+2966dup	NM_177939.2:c.436+2961_436+2966dup	NM_177939.2:c.436+2960_436+2966dup	NM_177939.2:c.436+2959_436+2966dup	NM_177939.2:c.436+2958_436+2966dup	NM_177939.2:c.436+2957_436+2966dup	NM_177939.2:c.436+2956_436+2966dup	NM_177939.2:c.436+2955_436+2966dup	NM_177939.2:c.436+2966_436+2967insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
P4HTM transcript variant 1	NM_177939.3:c.436+2946=	NM_177939.3:c.436+2955_436+2966del	NM_177939.3:c.436+2956_436+2966del	NM_177939.3:c.436+2959_436+2966del	NM_177939.3:c.436+2963_436+2966del	NM_177939.3:c.436+2964_436+2966del	NM_177939.3:c.436+2965_436+2966del	NM_177939.3:c.436+2966del	NM_177939.3:c.436+2966dup	NM_177939.3:c.436+2965_436+2966dup	NM_177939.3:c.436+2964_436+2966dup	NM_177939.3:c.436+2963_436+2966dup	NM_177939.3:c.436+2962_436+2966dup	NM_177939.3:c.436+2961_436+2966dup	NM_177939.3:c.436+2960_436+2966dup	NM_177939.3:c.436+2959_436+2966dup	NM_177939.3:c.436+2958_436+2966dup	NM_177939.3:c.436+2957_436+2966dup	NM_177939.3:c.436+2956_436+2966dup	NM_177939.3:c.436+2955_436+2966dup	NM_177939.3:c.436+2966_436+2967insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
P4HTM transcript variant X1	XM_005265235.1:c.436+2946=	XM_005265235.1:c.436+2955_436+2966del	XM_005265235.1:c.436+2956_436+2966del	XM_005265235.1:c.436+2959_436+2966del	XM_005265235.1:c.436+2963_436+2966del	XM_005265235.1:c.436+2964_436+2966del	XM_005265235.1:c.436+2965_436+2966del	XM_005265235.1:c.436+2966del	XM_005265235.1:c.436+2966dup	XM_005265235.1:c.436+2965_436+2966dup	XM_005265235.1:c.436+2964_436+2966dup	XM_005265235.1:c.436+2963_436+2966dup	XM_005265235.1:c.436+2962_436+2966dup	XM_005265235.1:c.436+2961_436+2966dup	XM_005265235.1:c.436+2960_436+2966dup	XM_005265235.1:c.436+2959_436+2966dup	XM_005265235.1:c.436+2958_436+2966dup	XM_005265235.1:c.436+2957_436+2966dup	XM_005265235.1:c.436+2956_436+2966dup	XM_005265235.1:c.436+2955_436+2966dup	XM_005265235.1:c.436+2966_436+2967insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
P4HTM transcript variant X2	XM_047448367.1:c.436+2946=	XM_047448367.1:c.436+2955_436+2966del	XM_047448367.1:c.436+2956_436+2966del	XM_047448367.1:c.436+2959_436+2966del	XM_047448367.1:c.436+2963_436+2966del	XM_047448367.1:c.436+2964_436+2966del	XM_047448367.1:c.436+2965_436+2966del	XM_047448367.1:c.436+2966del	XM_047448367.1:c.436+2966dup	XM_047448367.1:c.436+2965_436+2966dup	XM_047448367.1:c.436+2964_436+2966dup	XM_047448367.1:c.436+2963_436+2966dup	XM_047448367.1:c.436+2962_436+2966dup	XM_047448367.1:c.436+2961_436+2966dup	XM_047448367.1:c.436+2960_436+2966dup	XM_047448367.1:c.436+2959_436+2966dup	XM_047448367.1:c.436+2958_436+2966dup	XM_047448367.1:c.436+2957_436+2966dup	XM_047448367.1:c.436+2956_436+2966dup	XM_047448367.1:c.436+2955_436+2966dup	XM_047448367.1:c.436+2966_436+2967insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

43 SubSNP, 31 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss79918641	Dec 03, 2013 (138)
2	HUMANGENOME_JCVI	ss95945237	Dec 05, 2013 (138)
3	PJP	ss295099198	May 09, 2011 (135)
4	SSMP	ss663412067	Apr 01, 2015 (144)
5	EVA	ss3827796983	Apr 25, 2020 (154)
6	KOGIC	ss3951199437	Apr 25, 2020 (154)
7	KOGIC	ss3951199438	Apr 25, 2020 (154)
8	KOGIC	ss3951199439	Apr 25, 2020 (154)
9	KOGIC	ss3951199440	Apr 25, 2020 (154)
10	KOGIC	ss3951199441	Apr 25, 2020 (154)
11	KOGIC	ss3951199442	Apr 25, 2020 (154)
12	GNOMAD	ss4070552731	Apr 27, 2021 (155)
13	GNOMAD	ss4070552732	Apr 27, 2021 (155)
14	GNOMAD	ss4070552733	Apr 27, 2021 (155)
15	GNOMAD	ss4070552734	Apr 27, 2021 (155)
16	GNOMAD	ss4070552735	Apr 27, 2021 (155)
17	GNOMAD	ss4070552736	Apr 27, 2021 (155)
18	GNOMAD	ss4070552737	Apr 27, 2021 (155)
19	GNOMAD	ss4070552738	Apr 27, 2021 (155)
20	GNOMAD	ss4070552739	Apr 27, 2021 (155)
21	GNOMAD	ss4070552740	Apr 27, 2021 (155)
22	GNOMAD	ss4070552741	Apr 27, 2021 (155)
23	GNOMAD	ss4070552742	Apr 27, 2021 (155)
24	GNOMAD	ss4070552743	Apr 27, 2021 (155)
25	GNOMAD	ss4070552744	Apr 27, 2021 (155)
26	GNOMAD	ss4070552745	Apr 27, 2021 (155)
27	GNOMAD	ss4070552746	Apr 27, 2021 (155)
28	GNOMAD	ss4070552747	Apr 27, 2021 (155)
29	GNOMAD	ss4070552748	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5159020899	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5159020900	Apr 27, 2021 (155)
32	TOMMO_GENOMICS	ss5159020901	Apr 27, 2021 (155)
33	1000G_HIGH_COVERAGE	ss5253987202	Oct 12, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5253987203	Oct 12, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5253987204	Oct 12, 2022 (156)
36	HUGCELL_USP	ss5453388706	Oct 12, 2022 (156)
37	HUGCELL_USP	ss5453388707	Oct 12, 2022 (156)
38	HUGCELL_USP	ss5453388708	Oct 12, 2022 (156)
39	HUGCELL_USP	ss5453388709	Oct 12, 2022 (156)
40	SANFORD_IMAGENETICS	ss5632078378	Oct 12, 2022 (156)
41	TOMMO_GENOMICS	ss5690639254	Oct 12, 2022 (156)
42	TOMMO_GENOMICS	ss5690639255	Oct 12, 2022 (156)
43	TOMMO_GENOMICS	ss5690639256	Oct 12, 2022 (156)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106922056 (NC_000003.12:48993859::A 9966/40060) Row 106922057 (NC_000003.12:48993859::AA 289/39840) Row 106922058 (NC_000003.12:48993859::AAA 216/39542)...	-	Apr 27, 2021 (155)
62	Korean Genome Project Submission ignored due to conflicting rows: Row 7577438 (NC_000003.12:48993861::A 244/1588) Row 7577439 (NC_000003.12:48993861::AA 29/1588) Row 7577440 (NC_000003.12:48993860:A: 161/1588)...	-	Apr 25, 2020 (154)
63	Korean Genome Project Submission ignored due to conflicting rows: Row 7577438 (NC_000003.12:48993861::A 244/1588) Row 7577439 (NC_000003.12:48993861::AA 29/1588) Row 7577440 (NC_000003.12:48993860:A: 161/1588)...	-	Apr 25, 2020 (154)
64	Korean Genome Project Submission ignored due to conflicting rows: Row 7577438 (NC_000003.12:48993861::A 244/1588) Row 7577439 (NC_000003.12:48993861::AA 29/1588) Row 7577440 (NC_000003.12:48993860:A: 161/1588)...	-	Apr 25, 2020 (154)
65	Korean Genome Project Submission ignored due to conflicting rows: Row 7577438 (NC_000003.12:48993861::A 244/1588) Row 7577439 (NC_000003.12:48993861::AA 29/1588) Row 7577440 (NC_000003.12:48993860:A: 161/1588)...	-	Apr 25, 2020 (154)
66	Korean Genome Project Submission ignored due to conflicting rows: Row 7577438 (NC_000003.12:48993861::A 244/1588) Row 7577439 (NC_000003.12:48993861::AA 29/1588) Row 7577440 (NC_000003.12:48993860:A: 161/1588)...	-	Apr 25, 2020 (154)
67	Korean Genome Project Submission ignored due to conflicting rows: Row 7577438 (NC_000003.12:48993861::A 244/1588) Row 7577439 (NC_000003.12:48993861::AA 29/1588) Row 7577440 (NC_000003.12:48993860:A: 161/1588)...	-	Apr 25, 2020 (154)
68	8.3KJPN Submission ignored due to conflicting rows: Row 16990206 (NC_000003.11:49031292::A 482/16478) Row 16990207 (NC_000003.11:49031292::AA 48/16478) Row 16990208 (NC_000003.11:49031292:A: 183/16478)	-	Apr 27, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 16990206 (NC_000003.11:49031292::A 482/16478) Row 16990207 (NC_000003.11:49031292::AA 48/16478) Row 16990208 (NC_000003.11:49031292:A: 183/16478)	-	Apr 27, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 16990206 (NC_000003.11:49031292::A 482/16478) Row 16990207 (NC_000003.11:49031292::AA 48/16478) Row 16990208 (NC_000003.11:49031292:A: 183/16478)	-	Apr 27, 2021 (155)
71	14KJPN Submission ignored due to conflicting rows: Row 24476358 (NC_000003.12:48993859::A 823/27694) Row 24476359 (NC_000003.12:48993859::AA 88/27694) Row 24476360 (NC_000003.12:48993859:A: 340/27694)	-	Oct 12, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 24476358 (NC_000003.12:48993859::A 823/27694) Row 24476359 (NC_000003.12:48993859::AA 88/27694) Row 24476360 (NC_000003.12:48993859:A: 340/27694)	-	Oct 12, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 24476358 (NC_000003.12:48993859::A 823/27694) Row 24476359 (NC_000003.12:48993859::AA 88/27694) Row 24476360 (NC_000003.12:48993859:A: 340/27694)	-	Oct 12, 2022 (156)
74	ALFA	NC_000003.12 - 48993860	Apr 27, 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)
rs72253942	May 11, 2012 (137)
rs149694857	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
4198881180	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4070552748	NC_000003.12:48993859:AAAAAAAAAAA:	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
4198881180	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4070552747	NC_000003.12:48993859:AAAAAAAA:	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
4198881180	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4070552746	NC_000003.12:48993859:AAA:	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4198881180	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3951199440, ss4070552745	NC_000003.12:48993859:AA:	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
4198881180	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5159020901	NC_000003.11:49031292:A:	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4070552744, ss5253987203, ss5453388706, ss5690639256	NC_000003.12:48993859:A:	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
4198881180	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3951199439	NC_000003.12:48993860:A:	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss295099198	NC_000003.10:49006317::A	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss663412067, ss5159020899, ss5632078378	NC_000003.11:49031292::A	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552731, ss5253987202, ss5453388707, ss5690639254	NC_000003.12:48993859::A	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
4198881180	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3951199437	NC_000003.12:48993861::A	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss79918641, ss95945237	NT_022517.18:48971313::A	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5159020900	NC_000003.11:49031292::AA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552732, ss5253987204, ss5453388709, ss5690639255	NC_000003.12:48993859::AA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
4198881180	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3951199438	NC_000003.12:48993861::AA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3827796983	NC_000003.11:49031292::AAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552733	NC_000003.12:48993859::AAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
4198881180	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3951199442	NC_000003.12:48993861::AAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552734	NC_000003.12:48993859::AAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4198881180	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552735, ss5453388708	NC_000003.12:48993859::AAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552736	NC_000003.12:48993859::AAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552737	NC_000003.12:48993859::AAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3951199441	NC_000003.12:48993861::AAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552738	NC_000003.12:48993859::AAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552739	NC_000003.12:48993859::AAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552740	NC_000003.12:48993859::AAAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552741	NC_000003.12:48993859::AAAAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552742	NC_000003.12:48993859::AAAAAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070552743	NC_000003.12:48993859::AAAAAAAAAAA… NC_000003.12:48993859::AAAAAAAAAAAAAAAAAAAAAACAAAAAAAA	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3389763511	NC_000003.12:48993859:AAAA:	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
ss3389763512	NC_000003.12:48993859:AAAAAAAAAAAA:	NC_000003.12:48993859:AAAAAAAAAAAA… NC_000003.12:48993859:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

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

No publications for rs60867672

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

rs60867672