Name: rs36073194
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.

rs36073194

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:43894617-43894637 (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)₁₀ / d…
del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₈ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₁=0.000 (0/718, ALFA)
del(A)₁₀=0.000 (0/718, ALFA)
del(A)₈=0.000 (0/718, ALFA) (+ 9 more)
del(A)₆=0.000 (0/718, ALFA)
del(A)₅=0.000 (0/718, ALFA)
del(A)₄=0.000 (0/718, ALFA)
delAA=0.000 (0/718, ALFA)
delA=0.000 (0/718, ALFA)
dupA=0.000 (0/718, ALFA)
dupAA=0.000 (0/718, ALFA)
dupAAA=0.000 (0/718, ALFA)
(A)₂₁=0.34 (13/38, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MPP2 : 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	718	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	290	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	388	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	22	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	366	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	2	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	16	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	18	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	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	718	(A)₂₁=1.000	del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₈=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	African	Sub	388	(A)₂₁=1.000	del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₈=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	European	Sub	290	(A)₂₁=1.000	del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₈=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	18	(A)₂₁=1.00	del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₈=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	16	(A)₂₁=1.00	del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₈=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	4	(A)₂₁=1.0	del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₈=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(A)₂₁=1.0	del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₈=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₁=0	del(A)₁₁=0, del(A)₁₀=0, del(A)₈=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
The Danish reference pan genome	Danish	Study-wide	38	- No frequency provided	dupA=0.66

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 17	NC_000017.11:g.43894626_43894637del
GRCh38.p14 chr 17	NC_000017.11:g.43894627_43894637del
GRCh38.p14 chr 17	NC_000017.11:g.43894628_43894637del
GRCh38.p14 chr 17	NC_000017.11:g.43894630_43894637del
GRCh38.p14 chr 17	NC_000017.11:g.43894632_43894637del
GRCh38.p14 chr 17	NC_000017.11:g.43894633_43894637del
GRCh38.p14 chr 17	NC_000017.11:g.43894634_43894637del
GRCh38.p14 chr 17	NC_000017.11:g.43894635_43894637del
GRCh38.p14 chr 17	NC_000017.11:g.43894636_43894637del
GRCh38.p14 chr 17	NC_000017.11:g.43894637del
GRCh38.p14 chr 17	NC_000017.11:g.43894637dup
GRCh38.p14 chr 17	NC_000017.11:g.43894636_43894637dup
GRCh38.p14 chr 17	NC_000017.11:g.43894635_43894637dup
GRCh38.p14 chr 17	NC_000017.11:g.43894634_43894637dup
GRCh38.p14 chr 17	NC_000017.11:g.43894633_43894637dup
GRCh38.p14 chr 17	NC_000017.11:g.43894632_43894637dup
GRCh37.p13 chr 17	NC_000017.10:g.41971994_41972005del
GRCh37.p13 chr 17	NC_000017.10:g.41971995_41972005del
GRCh37.p13 chr 17	NC_000017.10:g.41971996_41972005del
GRCh37.p13 chr 17	NC_000017.10:g.41971998_41972005del
GRCh37.p13 chr 17	NC_000017.10:g.41972000_41972005del
GRCh37.p13 chr 17	NC_000017.10:g.41972001_41972005del
GRCh37.p13 chr 17	NC_000017.10:g.41972002_41972005del
GRCh37.p13 chr 17	NC_000017.10:g.41972003_41972005del
GRCh37.p13 chr 17	NC_000017.10:g.41972004_41972005del
GRCh37.p13 chr 17	NC_000017.10:g.41972005del
GRCh37.p13 chr 17	NC_000017.10:g.41972005dup
GRCh37.p13 chr 17	NC_000017.10:g.41972004_41972005dup
GRCh37.p13 chr 17	NC_000017.10:g.41972003_41972005dup
GRCh37.p13 chr 17	NC_000017.10:g.41972002_41972005dup
GRCh37.p13 chr 17	NC_000017.10:g.41972001_41972005dup
GRCh37.p13 chr 17	NC_000017.10:g.41972000_41972005dup

Gene: MPP2, MAGUK p55 scaffold protein 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MPP2 transcript variant 1	NM_001278370.2:c.285+3634… NM_001278370.2:c.285+3634_285+3645del	N/A	Intron Variant
MPP2 transcript variant 2	NM_001278371.2:c.117+3634… NM_001278371.2:c.117+3634_117+3645del	N/A	Intron Variant
MPP2 transcript variant 4	NM_001278372.2:c.150+3634… NM_001278372.2:c.150+3634_150+3645del	N/A	Intron Variant
MPP2 transcript variant 5	NM_001278373.2:c.117+3634… NM_001278373.2:c.117+3634_117+3645del	N/A	Intron Variant
MPP2 transcript variant 6	NM_001278374.2:c.-268+980… NM_001278374.2:c.-268+9802_-268+9813del	N/A	Intron Variant
MPP2 transcript variant 7	NM_001278375.2:c.117+3634… NM_001278375.2:c.117+3634_117+3645del	N/A	Intron Variant
MPP2 transcript variant 8	NM_001278376.3:c.201+3634… NM_001278376.3:c.201+3634_201+3645del	N/A	Intron Variant
MPP2 transcript variant 9	NM_001278381.2:c.150+3634… NM_001278381.2:c.150+3634_150+3645del	N/A	Intron Variant
MPP2 transcript variant 3	NM_005374.5:c.150+3634_15… NM_005374.5:c.150+3634_150+3645del	N/A	Intron Variant
MPP2 transcript variant X6	XM_011524827.3:c.312+3634… XM_011524827.3:c.312+3634_312+3645del	N/A	Intron Variant
MPP2 transcript variant X1	XM_024450760.2:c.312+3634… XM_024450760.2:c.312+3634_312+3645del	N/A	Intron Variant
MPP2 transcript variant X2	XM_024450762.2:c.150+3634… XM_024450762.2:c.150+3634_150+3645del	N/A	Intron Variant
MPP2 transcript variant X3	XM_024450763.2:c.150+3634… XM_024450763.2:c.150+3634_150+3645del	N/A	Intron Variant
MPP2 transcript variant X4	XM_047436095.1:c.312+3634… XM_047436095.1:c.312+3634_312+3645del	N/A	Intron Variant
MPP2 transcript variant X5	XM_047436096.1:c.	N/A	Genic Upstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	(A)₂₁=	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₈	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆
GRCh38.p14 chr 17	NC_000017.11:g.43894617_43894637=	NC_000017.11:g.43894626_43894637del	NC_000017.11:g.43894627_43894637del	NC_000017.11:g.43894628_43894637del	NC_000017.11:g.43894630_43894637del	NC_000017.11:g.43894632_43894637del	NC_000017.11:g.43894633_43894637del	NC_000017.11:g.43894634_43894637del	NC_000017.11:g.43894635_43894637del	NC_000017.11:g.43894636_43894637del	NC_000017.11:g.43894637del	NC_000017.11:g.43894637dup	NC_000017.11:g.43894636_43894637dup	NC_000017.11:g.43894635_43894637dup	NC_000017.11:g.43894634_43894637dup	NC_000017.11:g.43894633_43894637dup	NC_000017.11:g.43894632_43894637dup
GRCh37.p13 chr 17	NC_000017.10:g.41971985_41972005=	NC_000017.10:g.41971994_41972005del	NC_000017.10:g.41971995_41972005del	NC_000017.10:g.41971996_41972005del	NC_000017.10:g.41971998_41972005del	NC_000017.10:g.41972000_41972005del	NC_000017.10:g.41972001_41972005del	NC_000017.10:g.41972002_41972005del	NC_000017.10:g.41972003_41972005del	NC_000017.10:g.41972004_41972005del	NC_000017.10:g.41972005del	NC_000017.10:g.41972005dup	NC_000017.10:g.41972004_41972005dup	NC_000017.10:g.41972003_41972005dup	NC_000017.10:g.41972002_41972005dup	NC_000017.10:g.41972001_41972005dup	NC_000017.10:g.41972000_41972005dup
MPP2 transcript variant 1	NM_001278370.1:c.285+3645=	NM_001278370.1:c.285+3634_285+3645del	NM_001278370.1:c.285+3635_285+3645del	NM_001278370.1:c.285+3636_285+3645del	NM_001278370.1:c.285+3638_285+3645del	NM_001278370.1:c.285+3640_285+3645del	NM_001278370.1:c.285+3641_285+3645del	NM_001278370.1:c.285+3642_285+3645del	NM_001278370.1:c.285+3643_285+3645del	NM_001278370.1:c.285+3644_285+3645del	NM_001278370.1:c.285+3645del	NM_001278370.1:c.285+3645dup	NM_001278370.1:c.285+3644_285+3645dup	NM_001278370.1:c.285+3643_285+3645dup	NM_001278370.1:c.285+3642_285+3645dup	NM_001278370.1:c.285+3641_285+3645dup	NM_001278370.1:c.285+3640_285+3645dup
MPP2 transcript variant 1	NM_001278370.2:c.285+3645=	NM_001278370.2:c.285+3634_285+3645del	NM_001278370.2:c.285+3635_285+3645del	NM_001278370.2:c.285+3636_285+3645del	NM_001278370.2:c.285+3638_285+3645del	NM_001278370.2:c.285+3640_285+3645del	NM_001278370.2:c.285+3641_285+3645del	NM_001278370.2:c.285+3642_285+3645del	NM_001278370.2:c.285+3643_285+3645del	NM_001278370.2:c.285+3644_285+3645del	NM_001278370.2:c.285+3645del	NM_001278370.2:c.285+3645dup	NM_001278370.2:c.285+3644_285+3645dup	NM_001278370.2:c.285+3643_285+3645dup	NM_001278370.2:c.285+3642_285+3645dup	NM_001278370.2:c.285+3641_285+3645dup	NM_001278370.2:c.285+3640_285+3645dup
MPP2 transcript variant 2	NM_001278371.1:c.117+3645=	NM_001278371.1:c.117+3634_117+3645del	NM_001278371.1:c.117+3635_117+3645del	NM_001278371.1:c.117+3636_117+3645del	NM_001278371.1:c.117+3638_117+3645del	NM_001278371.1:c.117+3640_117+3645del	NM_001278371.1:c.117+3641_117+3645del	NM_001278371.1:c.117+3642_117+3645del	NM_001278371.1:c.117+3643_117+3645del	NM_001278371.1:c.117+3644_117+3645del	NM_001278371.1:c.117+3645del	NM_001278371.1:c.117+3645dup	NM_001278371.1:c.117+3644_117+3645dup	NM_001278371.1:c.117+3643_117+3645dup	NM_001278371.1:c.117+3642_117+3645dup	NM_001278371.1:c.117+3641_117+3645dup	NM_001278371.1:c.117+3640_117+3645dup
MPP2 transcript variant 2	NM_001278371.2:c.117+3645=	NM_001278371.2:c.117+3634_117+3645del	NM_001278371.2:c.117+3635_117+3645del	NM_001278371.2:c.117+3636_117+3645del	NM_001278371.2:c.117+3638_117+3645del	NM_001278371.2:c.117+3640_117+3645del	NM_001278371.2:c.117+3641_117+3645del	NM_001278371.2:c.117+3642_117+3645del	NM_001278371.2:c.117+3643_117+3645del	NM_001278371.2:c.117+3644_117+3645del	NM_001278371.2:c.117+3645del	NM_001278371.2:c.117+3645dup	NM_001278371.2:c.117+3644_117+3645dup	NM_001278371.2:c.117+3643_117+3645dup	NM_001278371.2:c.117+3642_117+3645dup	NM_001278371.2:c.117+3641_117+3645dup	NM_001278371.2:c.117+3640_117+3645dup
MPP2 transcript variant 4	NM_001278372.1:c.150+3645=	NM_001278372.1:c.150+3634_150+3645del	NM_001278372.1:c.150+3635_150+3645del	NM_001278372.1:c.150+3636_150+3645del	NM_001278372.1:c.150+3638_150+3645del	NM_001278372.1:c.150+3640_150+3645del	NM_001278372.1:c.150+3641_150+3645del	NM_001278372.1:c.150+3642_150+3645del	NM_001278372.1:c.150+3643_150+3645del	NM_001278372.1:c.150+3644_150+3645del	NM_001278372.1:c.150+3645del	NM_001278372.1:c.150+3645dup	NM_001278372.1:c.150+3644_150+3645dup	NM_001278372.1:c.150+3643_150+3645dup	NM_001278372.1:c.150+3642_150+3645dup	NM_001278372.1:c.150+3641_150+3645dup	NM_001278372.1:c.150+3640_150+3645dup
MPP2 transcript variant 4	NM_001278372.2:c.150+3645=	NM_001278372.2:c.150+3634_150+3645del	NM_001278372.2:c.150+3635_150+3645del	NM_001278372.2:c.150+3636_150+3645del	NM_001278372.2:c.150+3638_150+3645del	NM_001278372.2:c.150+3640_150+3645del	NM_001278372.2:c.150+3641_150+3645del	NM_001278372.2:c.150+3642_150+3645del	NM_001278372.2:c.150+3643_150+3645del	NM_001278372.2:c.150+3644_150+3645del	NM_001278372.2:c.150+3645del	NM_001278372.2:c.150+3645dup	NM_001278372.2:c.150+3644_150+3645dup	NM_001278372.2:c.150+3643_150+3645dup	NM_001278372.2:c.150+3642_150+3645dup	NM_001278372.2:c.150+3641_150+3645dup	NM_001278372.2:c.150+3640_150+3645dup
MPP2 transcript variant 5	NM_001278373.1:c.117+3645=	NM_001278373.1:c.117+3634_117+3645del	NM_001278373.1:c.117+3635_117+3645del	NM_001278373.1:c.117+3636_117+3645del	NM_001278373.1:c.117+3638_117+3645del	NM_001278373.1:c.117+3640_117+3645del	NM_001278373.1:c.117+3641_117+3645del	NM_001278373.1:c.117+3642_117+3645del	NM_001278373.1:c.117+3643_117+3645del	NM_001278373.1:c.117+3644_117+3645del	NM_001278373.1:c.117+3645del	NM_001278373.1:c.117+3645dup	NM_001278373.1:c.117+3644_117+3645dup	NM_001278373.1:c.117+3643_117+3645dup	NM_001278373.1:c.117+3642_117+3645dup	NM_001278373.1:c.117+3641_117+3645dup	NM_001278373.1:c.117+3640_117+3645dup
MPP2 transcript variant 5	NM_001278373.2:c.117+3645=	NM_001278373.2:c.117+3634_117+3645del	NM_001278373.2:c.117+3635_117+3645del	NM_001278373.2:c.117+3636_117+3645del	NM_001278373.2:c.117+3638_117+3645del	NM_001278373.2:c.117+3640_117+3645del	NM_001278373.2:c.117+3641_117+3645del	NM_001278373.2:c.117+3642_117+3645del	NM_001278373.2:c.117+3643_117+3645del	NM_001278373.2:c.117+3644_117+3645del	NM_001278373.2:c.117+3645del	NM_001278373.2:c.117+3645dup	NM_001278373.2:c.117+3644_117+3645dup	NM_001278373.2:c.117+3643_117+3645dup	NM_001278373.2:c.117+3642_117+3645dup	NM_001278373.2:c.117+3641_117+3645dup	NM_001278373.2:c.117+3640_117+3645dup
MPP2 transcript variant 6	NM_001278374.1:c.-268+9813=	NM_001278374.1:c.-268+9802_-268+9813del	NM_001278374.1:c.-268+9803_-268+9813del	NM_001278374.1:c.-268+9804_-268+9813del	NM_001278374.1:c.-268+9806_-268+9813del	NM_001278374.1:c.-268+9808_-268+9813del	NM_001278374.1:c.-268+9809_-268+9813del	NM_001278374.1:c.-268+9810_-268+9813del	NM_001278374.1:c.-268+9811_-268+9813del	NM_001278374.1:c.-268+9812_-268+9813del	NM_001278374.1:c.-268+9813del	NM_001278374.1:c.-268+9813dup	NM_001278374.1:c.-268+9812_-268+9813dup	NM_001278374.1:c.-268+9811_-268+9813dup	NM_001278374.1:c.-268+9810_-268+9813dup	NM_001278374.1:c.-268+9809_-268+9813dup	NM_001278374.1:c.-268+9808_-268+9813dup
MPP2 transcript variant 6	NM_001278374.2:c.-268+9813=	NM_001278374.2:c.-268+9802_-268+9813del	NM_001278374.2:c.-268+9803_-268+9813del	NM_001278374.2:c.-268+9804_-268+9813del	NM_001278374.2:c.-268+9806_-268+9813del	NM_001278374.2:c.-268+9808_-268+9813del	NM_001278374.2:c.-268+9809_-268+9813del	NM_001278374.2:c.-268+9810_-268+9813del	NM_001278374.2:c.-268+9811_-268+9813del	NM_001278374.2:c.-268+9812_-268+9813del	NM_001278374.2:c.-268+9813del	NM_001278374.2:c.-268+9813dup	NM_001278374.2:c.-268+9812_-268+9813dup	NM_001278374.2:c.-268+9811_-268+9813dup	NM_001278374.2:c.-268+9810_-268+9813dup	NM_001278374.2:c.-268+9809_-268+9813dup	NM_001278374.2:c.-268+9808_-268+9813dup
MPP2 transcript variant 7	NM_001278375.1:c.117+3645=	NM_001278375.1:c.117+3634_117+3645del	NM_001278375.1:c.117+3635_117+3645del	NM_001278375.1:c.117+3636_117+3645del	NM_001278375.1:c.117+3638_117+3645del	NM_001278375.1:c.117+3640_117+3645del	NM_001278375.1:c.117+3641_117+3645del	NM_001278375.1:c.117+3642_117+3645del	NM_001278375.1:c.117+3643_117+3645del	NM_001278375.1:c.117+3644_117+3645del	NM_001278375.1:c.117+3645del	NM_001278375.1:c.117+3645dup	NM_001278375.1:c.117+3644_117+3645dup	NM_001278375.1:c.117+3643_117+3645dup	NM_001278375.1:c.117+3642_117+3645dup	NM_001278375.1:c.117+3641_117+3645dup	NM_001278375.1:c.117+3640_117+3645dup
MPP2 transcript variant 7	NM_001278375.2:c.117+3645=	NM_001278375.2:c.117+3634_117+3645del	NM_001278375.2:c.117+3635_117+3645del	NM_001278375.2:c.117+3636_117+3645del	NM_001278375.2:c.117+3638_117+3645del	NM_001278375.2:c.117+3640_117+3645del	NM_001278375.2:c.117+3641_117+3645del	NM_001278375.2:c.117+3642_117+3645del	NM_001278375.2:c.117+3643_117+3645del	NM_001278375.2:c.117+3644_117+3645del	NM_001278375.2:c.117+3645del	NM_001278375.2:c.117+3645dup	NM_001278375.2:c.117+3644_117+3645dup	NM_001278375.2:c.117+3643_117+3645dup	NM_001278375.2:c.117+3642_117+3645dup	NM_001278375.2:c.117+3641_117+3645dup	NM_001278375.2:c.117+3640_117+3645dup
MPP2 transcript variant 8	NM_001278376.1:c.201+3645=	NM_001278376.1:c.201+3634_201+3645del	NM_001278376.1:c.201+3635_201+3645del	NM_001278376.1:c.201+3636_201+3645del	NM_001278376.1:c.201+3638_201+3645del	NM_001278376.1:c.201+3640_201+3645del	NM_001278376.1:c.201+3641_201+3645del	NM_001278376.1:c.201+3642_201+3645del	NM_001278376.1:c.201+3643_201+3645del	NM_001278376.1:c.201+3644_201+3645del	NM_001278376.1:c.201+3645del	NM_001278376.1:c.201+3645dup	NM_001278376.1:c.201+3644_201+3645dup	NM_001278376.1:c.201+3643_201+3645dup	NM_001278376.1:c.201+3642_201+3645dup	NM_001278376.1:c.201+3641_201+3645dup	NM_001278376.1:c.201+3640_201+3645dup
MPP2 transcript variant 8	NM_001278376.3:c.201+3645=	NM_001278376.3:c.201+3634_201+3645del	NM_001278376.3:c.201+3635_201+3645del	NM_001278376.3:c.201+3636_201+3645del	NM_001278376.3:c.201+3638_201+3645del	NM_001278376.3:c.201+3640_201+3645del	NM_001278376.3:c.201+3641_201+3645del	NM_001278376.3:c.201+3642_201+3645del	NM_001278376.3:c.201+3643_201+3645del	NM_001278376.3:c.201+3644_201+3645del	NM_001278376.3:c.201+3645del	NM_001278376.3:c.201+3645dup	NM_001278376.3:c.201+3644_201+3645dup	NM_001278376.3:c.201+3643_201+3645dup	NM_001278376.3:c.201+3642_201+3645dup	NM_001278376.3:c.201+3641_201+3645dup	NM_001278376.3:c.201+3640_201+3645dup
MPP2 transcript variant 9	NM_001278381.1:c.150+3645=	NM_001278381.1:c.150+3634_150+3645del	NM_001278381.1:c.150+3635_150+3645del	NM_001278381.1:c.150+3636_150+3645del	NM_001278381.1:c.150+3638_150+3645del	NM_001278381.1:c.150+3640_150+3645del	NM_001278381.1:c.150+3641_150+3645del	NM_001278381.1:c.150+3642_150+3645del	NM_001278381.1:c.150+3643_150+3645del	NM_001278381.1:c.150+3644_150+3645del	NM_001278381.1:c.150+3645del	NM_001278381.1:c.150+3645dup	NM_001278381.1:c.150+3644_150+3645dup	NM_001278381.1:c.150+3643_150+3645dup	NM_001278381.1:c.150+3642_150+3645dup	NM_001278381.1:c.150+3641_150+3645dup	NM_001278381.1:c.150+3640_150+3645dup
MPP2 transcript variant 9	NM_001278381.2:c.150+3645=	NM_001278381.2:c.150+3634_150+3645del	NM_001278381.2:c.150+3635_150+3645del	NM_001278381.2:c.150+3636_150+3645del	NM_001278381.2:c.150+3638_150+3645del	NM_001278381.2:c.150+3640_150+3645del	NM_001278381.2:c.150+3641_150+3645del	NM_001278381.2:c.150+3642_150+3645del	NM_001278381.2:c.150+3643_150+3645del	NM_001278381.2:c.150+3644_150+3645del	NM_001278381.2:c.150+3645del	NM_001278381.2:c.150+3645dup	NM_001278381.2:c.150+3644_150+3645dup	NM_001278381.2:c.150+3643_150+3645dup	NM_001278381.2:c.150+3642_150+3645dup	NM_001278381.2:c.150+3641_150+3645dup	NM_001278381.2:c.150+3640_150+3645dup
MPP2 transcript variant 3	NM_005374.4:c.150+3645=	NM_005374.4:c.150+3634_150+3645del	NM_005374.4:c.150+3635_150+3645del	NM_005374.4:c.150+3636_150+3645del	NM_005374.4:c.150+3638_150+3645del	NM_005374.4:c.150+3640_150+3645del	NM_005374.4:c.150+3641_150+3645del	NM_005374.4:c.150+3642_150+3645del	NM_005374.4:c.150+3643_150+3645del	NM_005374.4:c.150+3644_150+3645del	NM_005374.4:c.150+3645del	NM_005374.4:c.150+3645dup	NM_005374.4:c.150+3644_150+3645dup	NM_005374.4:c.150+3643_150+3645dup	NM_005374.4:c.150+3642_150+3645dup	NM_005374.4:c.150+3641_150+3645dup	NM_005374.4:c.150+3640_150+3645dup
MPP2 transcript variant 3	NM_005374.5:c.150+3645=	NM_005374.5:c.150+3634_150+3645del	NM_005374.5:c.150+3635_150+3645del	NM_005374.5:c.150+3636_150+3645del	NM_005374.5:c.150+3638_150+3645del	NM_005374.5:c.150+3640_150+3645del	NM_005374.5:c.150+3641_150+3645del	NM_005374.5:c.150+3642_150+3645del	NM_005374.5:c.150+3643_150+3645del	NM_005374.5:c.150+3644_150+3645del	NM_005374.5:c.150+3645del	NM_005374.5:c.150+3645dup	NM_005374.5:c.150+3644_150+3645dup	NM_005374.5:c.150+3643_150+3645dup	NM_005374.5:c.150+3642_150+3645dup	NM_005374.5:c.150+3641_150+3645dup	NM_005374.5:c.150+3640_150+3645dup
MPP2 transcript variant X6	XM_011524827.3:c.312+3645=	XM_011524827.3:c.312+3634_312+3645del	XM_011524827.3:c.312+3635_312+3645del	XM_011524827.3:c.312+3636_312+3645del	XM_011524827.3:c.312+3638_312+3645del	XM_011524827.3:c.312+3640_312+3645del	XM_011524827.3:c.312+3641_312+3645del	XM_011524827.3:c.312+3642_312+3645del	XM_011524827.3:c.312+3643_312+3645del	XM_011524827.3:c.312+3644_312+3645del	XM_011524827.3:c.312+3645del	XM_011524827.3:c.312+3645dup	XM_011524827.3:c.312+3644_312+3645dup	XM_011524827.3:c.312+3643_312+3645dup	XM_011524827.3:c.312+3642_312+3645dup	XM_011524827.3:c.312+3641_312+3645dup	XM_011524827.3:c.312+3640_312+3645dup
MPP2 transcript variant X1	XM_024450760.2:c.312+3645=	XM_024450760.2:c.312+3634_312+3645del	XM_024450760.2:c.312+3635_312+3645del	XM_024450760.2:c.312+3636_312+3645del	XM_024450760.2:c.312+3638_312+3645del	XM_024450760.2:c.312+3640_312+3645del	XM_024450760.2:c.312+3641_312+3645del	XM_024450760.2:c.312+3642_312+3645del	XM_024450760.2:c.312+3643_312+3645del	XM_024450760.2:c.312+3644_312+3645del	XM_024450760.2:c.312+3645del	XM_024450760.2:c.312+3645dup	XM_024450760.2:c.312+3644_312+3645dup	XM_024450760.2:c.312+3643_312+3645dup	XM_024450760.2:c.312+3642_312+3645dup	XM_024450760.2:c.312+3641_312+3645dup	XM_024450760.2:c.312+3640_312+3645dup
MPP2 transcript variant X2	XM_024450762.2:c.150+3645=	XM_024450762.2:c.150+3634_150+3645del	XM_024450762.2:c.150+3635_150+3645del	XM_024450762.2:c.150+3636_150+3645del	XM_024450762.2:c.150+3638_150+3645del	XM_024450762.2:c.150+3640_150+3645del	XM_024450762.2:c.150+3641_150+3645del	XM_024450762.2:c.150+3642_150+3645del	XM_024450762.2:c.150+3643_150+3645del	XM_024450762.2:c.150+3644_150+3645del	XM_024450762.2:c.150+3645del	XM_024450762.2:c.150+3645dup	XM_024450762.2:c.150+3644_150+3645dup	XM_024450762.2:c.150+3643_150+3645dup	XM_024450762.2:c.150+3642_150+3645dup	XM_024450762.2:c.150+3641_150+3645dup	XM_024450762.2:c.150+3640_150+3645dup
MPP2 transcript variant X3	XM_024450763.2:c.150+3645=	XM_024450763.2:c.150+3634_150+3645del	XM_024450763.2:c.150+3635_150+3645del	XM_024450763.2:c.150+3636_150+3645del	XM_024450763.2:c.150+3638_150+3645del	XM_024450763.2:c.150+3640_150+3645del	XM_024450763.2:c.150+3641_150+3645del	XM_024450763.2:c.150+3642_150+3645del	XM_024450763.2:c.150+3643_150+3645del	XM_024450763.2:c.150+3644_150+3645del	XM_024450763.2:c.150+3645del	XM_024450763.2:c.150+3645dup	XM_024450763.2:c.150+3644_150+3645dup	XM_024450763.2:c.150+3643_150+3645dup	XM_024450763.2:c.150+3642_150+3645dup	XM_024450763.2:c.150+3641_150+3645dup	XM_024450763.2:c.150+3640_150+3645dup
MPP2 transcript variant X4	XM_047436095.1:c.312+3645=	XM_047436095.1:c.312+3634_312+3645del	XM_047436095.1:c.312+3635_312+3645del	XM_047436095.1:c.312+3636_312+3645del	XM_047436095.1:c.312+3638_312+3645del	XM_047436095.1:c.312+3640_312+3645del	XM_047436095.1:c.312+3641_312+3645del	XM_047436095.1:c.312+3642_312+3645del	XM_047436095.1:c.312+3643_312+3645del	XM_047436095.1:c.312+3644_312+3645del	XM_047436095.1:c.312+3645del	XM_047436095.1:c.312+3645dup	XM_047436095.1:c.312+3644_312+3645dup	XM_047436095.1:c.312+3643_312+3645dup	XM_047436095.1:c.312+3642_312+3645dup	XM_047436095.1:c.312+3641_312+3645dup	XM_047436095.1:c.312+3640_312+3645dup

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, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40836624	Mar 15, 2006 (126)
2	HUMANGENOME_JCVI	ss95694441	Dec 05, 2013 (138)
3	PJP	ss294913671	May 09, 2011 (134)
4	EVA_GENOME_DK	ss1575050415	Apr 01, 2015 (144)
5	SWEGEN	ss3015550102	Nov 08, 2017 (151)
6	MCHAISSO	ss3064711699	Nov 08, 2017 (151)
7	URBANLAB	ss3650657727	Oct 12, 2018 (152)
8	EVA_DECODE	ss3700484730	Jul 13, 2019 (153)
9	EVA_DECODE	ss3700484731	Jul 13, 2019 (153)
10	EVA_DECODE	ss3700484732	Jul 13, 2019 (153)
11	EVA_DECODE	ss3700484733	Jul 13, 2019 (153)
12	PACBIO	ss3793163158	Jul 13, 2019 (153)
13	PACBIO	ss3798049007	Jul 13, 2019 (153)
14	EVA	ss3834871945	Apr 27, 2020 (154)
15	GNOMAD	ss4311783183	Apr 27, 2021 (155)
16	GNOMAD	ss4311783184	Apr 27, 2021 (155)
17	GNOMAD	ss4311783185	Apr 27, 2021 (155)
18	GNOMAD	ss4311783186	Apr 27, 2021 (155)
19	GNOMAD	ss4311783187	Apr 27, 2021 (155)
20	GNOMAD	ss4311783188	Apr 27, 2021 (155)
21	GNOMAD	ss4311783190	Apr 27, 2021 (155)
22	GNOMAD	ss4311783191	Apr 27, 2021 (155)
23	GNOMAD	ss4311783192	Apr 27, 2021 (155)
24	GNOMAD	ss4311783193	Apr 27, 2021 (155)
25	GNOMAD	ss4311783194	Apr 27, 2021 (155)
26	GNOMAD	ss4311783195	Apr 27, 2021 (155)
27	GNOMAD	ss4311783196	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5222460413	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5222460414	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5222460415	Apr 27, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5303166819	Oct 16, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5303166820	Oct 16, 2022 (156)
33	HUGCELL_USP	ss5496219079	Oct 16, 2022 (156)
34	HUGCELL_USP	ss5496219080	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5778685816	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5778685817	Oct 16, 2022 (156)
37	TOMMO_GENOMICS	ss5778685819	Oct 16, 2022 (156)
38	YY_MCH	ss5816550447	Oct 16, 2022 (156)
39	The Danish reference pan genome	NC_000017.10 - 41971985	Apr 27, 2020 (154)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507526754 (NC_000017.11:43894616::A 45173/61692) Row 507526755 (NC_000017.11:43894616::AA 457/61490) Row 507526756 (NC_000017.11:43894616::AAA 10/61702)...	-	Apr 27, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 80429720 (NC_000017.10:41971984::A 12562/16262) Row 80429721 (NC_000017.10:41971984::AA 40/16262) Row 80429722 (NC_000017.10:41971984:AAAAAAAAAAAA: 1/16262)	-	Apr 27, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 80429720 (NC_000017.10:41971984::A 12562/16262) Row 80429721 (NC_000017.10:41971984::AA 40/16262) Row 80429722 (NC_000017.10:41971984:AAAAAAAAAAAA: 1/16262)	-	Apr 27, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 80429720 (NC_000017.10:41971984::A 12562/16262) Row 80429721 (NC_000017.10:41971984::AA 40/16262) Row 80429722 (NC_000017.10:41971984:AAAAAAAAAAAA: 1/16262)	-	Apr 27, 2021 (155)
57	14KJPN Submission ignored due to conflicting rows: Row 112522920 (NC_000017.11:43894616::A 22373/26980) Row 112522921 (NC_000017.11:43894616::AA 48/26980) Row 112522923 (NC_000017.11:43894616:AAAAAAAAAAA: 2/26980)	-	Oct 16, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 112522920 (NC_000017.11:43894616::A 22373/26980) Row 112522921 (NC_000017.11:43894616::AA 48/26980) Row 112522923 (NC_000017.11:43894616:AAAAAAAAAAA: 2/26980)	-	Oct 16, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 112522920 (NC_000017.11:43894616::A 22373/26980) Row 112522921 (NC_000017.11:43894616::AA 48/26980) Row 112522923 (NC_000017.11:43894616:AAAAAAAAAAA: 2/26980)	-	Oct 16, 2022 (156)
60	ALFA	NC_000017.11 - 43894617	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)
rs71160066	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5222460415	NC_000017.10:41971984:AAAAAAAAAAAA:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4311783196, ss5778685819	NC_000017.11:43894616:AAAAAAAAAAA:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
902003959	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4311783195	NC_000017.11:43894616:AAAAAAAAAA:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
902003959	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4311783194	NC_000017.11:43894616:AAAAAAAA:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
902003959	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4311783193	NC_000017.11:43894616:AAAAAA:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
902003959	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4311783192	NC_000017.11:43894616:AAAAA:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
902003959	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4311783191	NC_000017.11:43894616:AAAA:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
902003959	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3700484733	NC_000017.11:43894616:AAA:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4311783190	NC_000017.11:43894616:AA:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
902003959	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3015550102	NC_000017.10:41971984:A:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3650657727, ss5303166820, ss5496219079	NC_000017.11:43894616:A:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
902003959	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3700484732	NC_000017.11:43894618:A:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss95694441	NT_010783.15:7246155:A:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss40836624	NT_010783.15:7246156:A:	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss294913671	NC_000017.9:39327511::A	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
562140, ss1575050415, ss3793163158, ss3798049007, ss3834871945, ss5222460413	NC_000017.10:41971984::A	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3064711699, ss4311783183, ss5303166819, ss5496219080, ss5778685816, ss5816550447	NC_000017.11:43894616::A	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
902003959	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3700484731	NC_000017.11:43894619::A	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5222460414	NC_000017.10:41971984::AA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311783184, ss5778685817	NC_000017.11:43894616::AA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
902003959	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3700484730	NC_000017.11:43894619::AA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311783185	NC_000017.11:43894616::AAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
902003959	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311783186	NC_000017.11:43894616::AAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311783187	NC_000017.11:43894616::AAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311783188	NC_000017.11:43894616::AAAAAA	NC_000017.11:43894616:AAAAAAAAAAAA… NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs36073194

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

rs36073194