Name: rs34413650
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.

rs34413650

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:47212075-47212094 (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)₁₀ / del(A)₈ / del(A)₅ / del…
del(A)₁₀ / del(A)₈ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₈=0.000034 (9/264690, TOPMED)
delA=0.4275 (2141/5008, 1000G)
del(A)₁₀=0.0000 (0/3206, ALFA) (+ 8 more)
del(A)₈=0.0000 (0/3206, ALFA)
del(A)₅=0.0000 (0/3206, ALFA)
del(A)₄=0.0000 (0/3206, ALFA)
delAAA=0.0000 (0/3206, ALFA)
delAA=0.0000 (0/3206, ALFA)
delA=0.0000 (0/3206, ALFA)
dupA=0.0000 (0/3206, ALFA)
dupAA=0.0000 (0/3206, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PCED1B : Intron Variant
PCED1B-AS1 : 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	3206	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	2344	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	364	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	14	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	350	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	10	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
East Asian	Sub	4	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Other Asian	Sub	6	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	38	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	296	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	26	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	128	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=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
TopMed	Global	Study-wide	264690	(A)₂₀=0.999966	del(A)₈=0.000034
1000Genomes	Global	Study-wide	5008	(A)₂₀=0.5725	delA=0.4275
1000Genomes	African	Sub	1322	(A)₂₀=0.4690	delA=0.5310
1000Genomes	East Asian	Sub	1008	(A)₂₀=0.4821	delA=0.5179
1000Genomes	Europe	Sub	1006	(A)₂₀=0.6382	delA=0.3618
1000Genomes	South Asian	Sub	978	(A)₂₀=0.664	delA=0.336
1000Genomes	American	Sub	694	(A)₂₀=0.677	delA=0.323
Allele Frequency Aggregator	Total	Global	3206	(A)₂₀=1.0000	del(A)₁₀=0.0000, del(A)₈=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	European	Sub	2344	(A)₂₀=1.0000	del(A)₁₀=0.0000, del(A)₈=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	364	(A)₂₀=1.000	del(A)₁₀=0.000, del(A)₈=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
Allele Frequency Aggregator	Latin American 2	Sub	296	(A)₂₀=1.000	del(A)₁₀=0.000, del(A)₈=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
Allele Frequency Aggregator	Other	Sub	128	(A)₂₀=1.000	del(A)₁₀=0.000, del(A)₈=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
Allele Frequency Aggregator	Latin American 1	Sub	38	(A)₂₀=1.00	del(A)₁₀=0.00, del(A)₈=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
Allele Frequency Aggregator	South Asian	Sub	26	(A)₂₀=1.00	del(A)₁₀=0.00, del(A)₈=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
Allele Frequency Aggregator	Asian	Sub	10	(A)₂₀=1.0	del(A)₁₀=0.0, del(A)₈=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0

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 12	NC_000012.12:g.47212085_47212094del
GRCh38.p14 chr 12	NC_000012.12:g.47212087_47212094del
GRCh38.p14 chr 12	NC_000012.12:g.47212090_47212094del
GRCh38.p14 chr 12	NC_000012.12:g.47212091_47212094del
GRCh38.p14 chr 12	NC_000012.12:g.47212092_47212094del
GRCh38.p14 chr 12	NC_000012.12:g.47212093_47212094del
GRCh38.p14 chr 12	NC_000012.12:g.47212094del
GRCh38.p14 chr 12	NC_000012.12:g.47212094dup
GRCh38.p14 chr 12	NC_000012.12:g.47212093_47212094dup
GRCh38.p14 chr 12	NC_000012.12:g.47212092_47212094dup
GRCh37.p13 chr 12	NC_000012.11:g.47605868_47605877del
GRCh37.p13 chr 12	NC_000012.11:g.47605870_47605877del
GRCh37.p13 chr 12	NC_000012.11:g.47605873_47605877del
GRCh37.p13 chr 12	NC_000012.11:g.47605874_47605877del
GRCh37.p13 chr 12	NC_000012.11:g.47605875_47605877del
GRCh37.p13 chr 12	NC_000012.11:g.47605876_47605877del
GRCh37.p13 chr 12	NC_000012.11:g.47605877del
GRCh37.p13 chr 12	NC_000012.11:g.47605877dup
GRCh37.p13 chr 12	NC_000012.11:g.47605876_47605877dup
GRCh37.p13 chr 12	NC_000012.11:g.47605875_47605877dup

Gene: PCED1B, PC-esterase domain containing 1B (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PCED1B transcript variant 2	NM_001281429.2:c.-57-2292… NM_001281429.2:c.-57-22922_-57-22913del	N/A	Intron Variant
PCED1B transcript variant 1	NM_138371.3:c.-525-4137_-… NM_138371.3:c.-525-4137_-525-4128del	N/A	Intron Variant
PCED1B transcript variant X4	XM_005269224.6:c.-261-440… XM_005269224.6:c.-261-4401_-261-4392del	N/A	Intron Variant
PCED1B transcript variant X2	XM_011538978.3:c.-261-440… XM_011538978.3:c.-261-4401_-261-4392del	N/A	Intron Variant
PCED1B transcript variant X1	XM_017020207.2:c.-318-512… XM_017020207.2:c.-318-512_-318-503del	N/A	Intron Variant
PCED1B transcript variant X3	XM_017020209.2:c.-318-512… XM_017020209.2:c.-318-512_-318-503del	N/A	Intron Variant
PCED1B transcript variant X14	XM_017020216.2:c.-57-2292… XM_017020216.2:c.-57-22922_-57-22913del	N/A	Intron Variant
PCED1B transcript variant X5	XM_047429868.1:c.-406-440… XM_047429868.1:c.-406-4401_-406-4392del	N/A	Intron Variant
PCED1B transcript variant X6	XM_047429869.1:c.-463-512… XM_047429869.1:c.-463-512_-463-503del	N/A	Intron Variant
PCED1B transcript variant X7	XM_047429870.1:c.-406-440… XM_047429870.1:c.-406-4401_-406-4392del	N/A	Intron Variant
PCED1B transcript variant X8	XM_047429871.1:c.-261-440… XM_047429871.1:c.-261-4401_-261-4392del	N/A	Intron Variant
PCED1B transcript variant X9	XM_047429872.1:c.-377-440… XM_047429872.1:c.-377-4401_-377-4392del	N/A	Intron Variant
PCED1B transcript variant X10	XM_047429873.1:c.-579-512… XM_047429873.1:c.-579-512_-579-503del	N/A	Intron Variant
PCED1B transcript variant X11	XM_047429874.1:c.-434-512… XM_047429874.1:c.-434-512_-434-503del	N/A	Intron Variant
PCED1B transcript variant X12	XM_047429875.1:c.-377-440… XM_047429875.1:c.-377-4401_-377-4392del	N/A	Intron Variant
PCED1B transcript variant X13	XM_047429876.1:c.-406-440… XM_047429876.1:c.-406-4401_-406-4392del	N/A	Intron Variant

Gene: PCED1B-AS1, PCED1B antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PCED1B-AS1 transcript	NR_026544.1: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)₂₀=	del(A)₁₀	del(A)₈	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 12	NC_000012.12:g.47212075_47212094=	NC_000012.12:g.47212085_47212094del	NC_000012.12:g.47212087_47212094del	NC_000012.12:g.47212090_47212094del	NC_000012.12:g.47212091_47212094del	NC_000012.12:g.47212092_47212094del	NC_000012.12:g.47212093_47212094del	NC_000012.12:g.47212094del	NC_000012.12:g.47212094dup	NC_000012.12:g.47212093_47212094dup	NC_000012.12:g.47212092_47212094dup
GRCh37.p13 chr 12	NC_000012.11:g.47605858_47605877=	NC_000012.11:g.47605868_47605877del	NC_000012.11:g.47605870_47605877del	NC_000012.11:g.47605873_47605877del	NC_000012.11:g.47605874_47605877del	NC_000012.11:g.47605875_47605877del	NC_000012.11:g.47605876_47605877del	NC_000012.11:g.47605877del	NC_000012.11:g.47605877dup	NC_000012.11:g.47605876_47605877dup	NC_000012.11:g.47605875_47605877dup
PCED1B transcript variant 2	NM_001281429.1:c.-57-22932=	NM_001281429.1:c.-57-22922_-57-22913del	NM_001281429.1:c.-57-22920_-57-22913del	NM_001281429.1:c.-57-22917_-57-22913del	NM_001281429.1:c.-57-22916_-57-22913del	NM_001281429.1:c.-57-22915_-57-22913del	NM_001281429.1:c.-57-22914_-57-22913del	NM_001281429.1:c.-57-22913del	NM_001281429.1:c.-57-22913dup	NM_001281429.1:c.-57-22914_-57-22913dup	NM_001281429.1:c.-57-22915_-57-22913dup
PCED1B transcript variant 2	NM_001281429.2:c.-57-22932=	NM_001281429.2:c.-57-22922_-57-22913del	NM_001281429.2:c.-57-22920_-57-22913del	NM_001281429.2:c.-57-22917_-57-22913del	NM_001281429.2:c.-57-22916_-57-22913del	NM_001281429.2:c.-57-22915_-57-22913del	NM_001281429.2:c.-57-22914_-57-22913del	NM_001281429.2:c.-57-22913del	NM_001281429.2:c.-57-22913dup	NM_001281429.2:c.-57-22914_-57-22913dup	NM_001281429.2:c.-57-22915_-57-22913dup
PCED1B transcript variant 1	NM_138371.2:c.-525-4147=	NM_138371.2:c.-525-4137_-525-4128del	NM_138371.2:c.-525-4135_-525-4128del	NM_138371.2:c.-525-4132_-525-4128del	NM_138371.2:c.-525-4131_-525-4128del	NM_138371.2:c.-525-4130_-525-4128del	NM_138371.2:c.-525-4129_-525-4128del	NM_138371.2:c.-525-4128del	NM_138371.2:c.-525-4128dup	NM_138371.2:c.-525-4129_-525-4128dup	NM_138371.2:c.-525-4130_-525-4128dup
PCED1B transcript variant 1	NM_138371.3:c.-525-4147=	NM_138371.3:c.-525-4137_-525-4128del	NM_138371.3:c.-525-4135_-525-4128del	NM_138371.3:c.-525-4132_-525-4128del	NM_138371.3:c.-525-4131_-525-4128del	NM_138371.3:c.-525-4130_-525-4128del	NM_138371.3:c.-525-4129_-525-4128del	NM_138371.3:c.-525-4128del	NM_138371.3:c.-525-4128dup	NM_138371.3:c.-525-4129_-525-4128dup	NM_138371.3:c.-525-4130_-525-4128dup
PCED1B transcript variant X1	XM_005269224.1:c.-261-4411=	XM_005269224.1:c.-261-4401_-261-4392del	XM_005269224.1:c.-261-4399_-261-4392del	XM_005269224.1:c.-261-4396_-261-4392del	XM_005269224.1:c.-261-4395_-261-4392del	XM_005269224.1:c.-261-4394_-261-4392del	XM_005269224.1:c.-261-4393_-261-4392del	XM_005269224.1:c.-261-4392del	XM_005269224.1:c.-261-4392dup	XM_005269224.1:c.-261-4393_-261-4392dup	XM_005269224.1:c.-261-4394_-261-4392dup
PCED1B transcript variant X4	XM_005269224.6:c.-261-4411=	XM_005269224.6:c.-261-4401_-261-4392del	XM_005269224.6:c.-261-4399_-261-4392del	XM_005269224.6:c.-261-4396_-261-4392del	XM_005269224.6:c.-261-4395_-261-4392del	XM_005269224.6:c.-261-4394_-261-4392del	XM_005269224.6:c.-261-4393_-261-4392del	XM_005269224.6:c.-261-4392del	XM_005269224.6:c.-261-4392dup	XM_005269224.6:c.-261-4393_-261-4392dup	XM_005269224.6:c.-261-4394_-261-4392dup
PCED1B transcript variant X2	XM_011538978.3:c.-261-4411=	XM_011538978.3:c.-261-4401_-261-4392del	XM_011538978.3:c.-261-4399_-261-4392del	XM_011538978.3:c.-261-4396_-261-4392del	XM_011538978.3:c.-261-4395_-261-4392del	XM_011538978.3:c.-261-4394_-261-4392del	XM_011538978.3:c.-261-4393_-261-4392del	XM_011538978.3:c.-261-4392del	XM_011538978.3:c.-261-4392dup	XM_011538978.3:c.-261-4393_-261-4392dup	XM_011538978.3:c.-261-4394_-261-4392dup
PCED1B transcript variant X1	XM_017020207.2:c.-318-522=	XM_017020207.2:c.-318-512_-318-503del	XM_017020207.2:c.-318-510_-318-503del	XM_017020207.2:c.-318-507_-318-503del	XM_017020207.2:c.-318-506_-318-503del	XM_017020207.2:c.-318-505_-318-503del	XM_017020207.2:c.-318-504_-318-503del	XM_017020207.2:c.-318-503del	XM_017020207.2:c.-318-503dup	XM_017020207.2:c.-318-504_-318-503dup	XM_017020207.2:c.-318-505_-318-503dup
PCED1B transcript variant X3	XM_017020209.2:c.-318-522=	XM_017020209.2:c.-318-512_-318-503del	XM_017020209.2:c.-318-510_-318-503del	XM_017020209.2:c.-318-507_-318-503del	XM_017020209.2:c.-318-506_-318-503del	XM_017020209.2:c.-318-505_-318-503del	XM_017020209.2:c.-318-504_-318-503del	XM_017020209.2:c.-318-503del	XM_017020209.2:c.-318-503dup	XM_017020209.2:c.-318-504_-318-503dup	XM_017020209.2:c.-318-505_-318-503dup
PCED1B transcript variant X14	XM_017020216.2:c.-57-22932=	XM_017020216.2:c.-57-22922_-57-22913del	XM_017020216.2:c.-57-22920_-57-22913del	XM_017020216.2:c.-57-22917_-57-22913del	XM_017020216.2:c.-57-22916_-57-22913del	XM_017020216.2:c.-57-22915_-57-22913del	XM_017020216.2:c.-57-22914_-57-22913del	XM_017020216.2:c.-57-22913del	XM_017020216.2:c.-57-22913dup	XM_017020216.2:c.-57-22914_-57-22913dup	XM_017020216.2:c.-57-22915_-57-22913dup
PCED1B transcript variant X5	XM_047429868.1:c.-406-4411=	XM_047429868.1:c.-406-4401_-406-4392del	XM_047429868.1:c.-406-4399_-406-4392del	XM_047429868.1:c.-406-4396_-406-4392del	XM_047429868.1:c.-406-4395_-406-4392del	XM_047429868.1:c.-406-4394_-406-4392del	XM_047429868.1:c.-406-4393_-406-4392del	XM_047429868.1:c.-406-4392del	XM_047429868.1:c.-406-4392dup	XM_047429868.1:c.-406-4393_-406-4392dup	XM_047429868.1:c.-406-4394_-406-4392dup
PCED1B transcript variant X6	XM_047429869.1:c.-463-522=	XM_047429869.1:c.-463-512_-463-503del	XM_047429869.1:c.-463-510_-463-503del	XM_047429869.1:c.-463-507_-463-503del	XM_047429869.1:c.-463-506_-463-503del	XM_047429869.1:c.-463-505_-463-503del	XM_047429869.1:c.-463-504_-463-503del	XM_047429869.1:c.-463-503del	XM_047429869.1:c.-463-503dup	XM_047429869.1:c.-463-504_-463-503dup	XM_047429869.1:c.-463-505_-463-503dup
PCED1B transcript variant X7	XM_047429870.1:c.-406-4411=	XM_047429870.1:c.-406-4401_-406-4392del	XM_047429870.1:c.-406-4399_-406-4392del	XM_047429870.1:c.-406-4396_-406-4392del	XM_047429870.1:c.-406-4395_-406-4392del	XM_047429870.1:c.-406-4394_-406-4392del	XM_047429870.1:c.-406-4393_-406-4392del	XM_047429870.1:c.-406-4392del	XM_047429870.1:c.-406-4392dup	XM_047429870.1:c.-406-4393_-406-4392dup	XM_047429870.1:c.-406-4394_-406-4392dup
PCED1B transcript variant X8	XM_047429871.1:c.-261-4411=	XM_047429871.1:c.-261-4401_-261-4392del	XM_047429871.1:c.-261-4399_-261-4392del	XM_047429871.1:c.-261-4396_-261-4392del	XM_047429871.1:c.-261-4395_-261-4392del	XM_047429871.1:c.-261-4394_-261-4392del	XM_047429871.1:c.-261-4393_-261-4392del	XM_047429871.1:c.-261-4392del	XM_047429871.1:c.-261-4392dup	XM_047429871.1:c.-261-4393_-261-4392dup	XM_047429871.1:c.-261-4394_-261-4392dup
PCED1B transcript variant X9	XM_047429872.1:c.-377-4411=	XM_047429872.1:c.-377-4401_-377-4392del	XM_047429872.1:c.-377-4399_-377-4392del	XM_047429872.1:c.-377-4396_-377-4392del	XM_047429872.1:c.-377-4395_-377-4392del	XM_047429872.1:c.-377-4394_-377-4392del	XM_047429872.1:c.-377-4393_-377-4392del	XM_047429872.1:c.-377-4392del	XM_047429872.1:c.-377-4392dup	XM_047429872.1:c.-377-4393_-377-4392dup	XM_047429872.1:c.-377-4394_-377-4392dup
PCED1B transcript variant X10	XM_047429873.1:c.-579-522=	XM_047429873.1:c.-579-512_-579-503del	XM_047429873.1:c.-579-510_-579-503del	XM_047429873.1:c.-579-507_-579-503del	XM_047429873.1:c.-579-506_-579-503del	XM_047429873.1:c.-579-505_-579-503del	XM_047429873.1:c.-579-504_-579-503del	XM_047429873.1:c.-579-503del	XM_047429873.1:c.-579-503dup	XM_047429873.1:c.-579-504_-579-503dup	XM_047429873.1:c.-579-505_-579-503dup
PCED1B transcript variant X11	XM_047429874.1:c.-434-522=	XM_047429874.1:c.-434-512_-434-503del	XM_047429874.1:c.-434-510_-434-503del	XM_047429874.1:c.-434-507_-434-503del	XM_047429874.1:c.-434-506_-434-503del	XM_047429874.1:c.-434-505_-434-503del	XM_047429874.1:c.-434-504_-434-503del	XM_047429874.1:c.-434-503del	XM_047429874.1:c.-434-503dup	XM_047429874.1:c.-434-504_-434-503dup	XM_047429874.1:c.-434-505_-434-503dup
PCED1B transcript variant X12	XM_047429875.1:c.-377-4411=	XM_047429875.1:c.-377-4401_-377-4392del	XM_047429875.1:c.-377-4399_-377-4392del	XM_047429875.1:c.-377-4396_-377-4392del	XM_047429875.1:c.-377-4395_-377-4392del	XM_047429875.1:c.-377-4394_-377-4392del	XM_047429875.1:c.-377-4393_-377-4392del	XM_047429875.1:c.-377-4392del	XM_047429875.1:c.-377-4392dup	XM_047429875.1:c.-377-4393_-377-4392dup	XM_047429875.1:c.-377-4394_-377-4392dup
PCED1B transcript variant X13	XM_047429876.1:c.-406-4411=	XM_047429876.1:c.-406-4401_-406-4392del	XM_047429876.1:c.-406-4399_-406-4392del	XM_047429876.1:c.-406-4396_-406-4392del	XM_047429876.1:c.-406-4395_-406-4392del	XM_047429876.1:c.-406-4394_-406-4392del	XM_047429876.1:c.-406-4393_-406-4392del	XM_047429876.1:c.-406-4392del	XM_047429876.1:c.-406-4392dup	XM_047429876.1:c.-406-4393_-406-4392dup	XM_047429876.1:c.-406-4394_-406-4392dup

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#.

58 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40245391	Mar 13, 2006 (126)
2	HGSV	ss80772196	Dec 15, 2007 (129)
3	HUMANGENOME_JCVI	ss95595521	Feb 06, 2009 (137)
4	PJP	ss294750134	May 09, 2011 (134)
5	PJP	ss294750135	May 09, 2011 (137)
6	1000GENOMES	ss1372126444	Aug 21, 2014 (142)
7	EVA_UK10K_ALSPAC	ss1707454518	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1707454570	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1710557963	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1710557968	Apr 01, 2015 (144)
11	SWEGEN	ss3009636260	Nov 08, 2017 (151)
12	MCHAISSO	ss3064557213	Nov 08, 2017 (151)
13	EVA_DECODE	ss3693610126	Jul 13, 2019 (153)
14	EVA_DECODE	ss3693610127	Jul 13, 2019 (153)
15	EVA_DECODE	ss3693610128	Jul 13, 2019 (153)
16	EVA_DECODE	ss3693610129	Jul 13, 2019 (153)
17	EVA_DECODE	ss3693610130	Jul 13, 2019 (153)
18	PACBIO	ss3787217318	Jul 13, 2019 (153)
19	PACBIO	ss3792320633	Jul 13, 2019 (153)
20	PACBIO	ss3797203412	Jul 13, 2019 (153)
21	KHV_HUMAN_GENOMES	ss3815773931	Jul 13, 2019 (153)
22	EVA	ss3833107577	Apr 27, 2020 (154)
23	KOGIC	ss3971863903	Apr 27, 2020 (154)
24	KOGIC	ss3971863904	Apr 27, 2020 (154)
25	KOGIC	ss3971863905	Apr 27, 2020 (154)
26	KOGIC	ss3971863906	Apr 27, 2020 (154)
27	KOGIC	ss3971863907	Apr 27, 2020 (154)
28	GNOMAD	ss4251258897	Apr 26, 2021 (155)
29	GNOMAD	ss4251258898	Apr 26, 2021 (155)
30	GNOMAD	ss4251258899	Apr 26, 2021 (155)
31	GNOMAD	ss4251258900	Apr 26, 2021 (155)
32	GNOMAD	ss4251258901	Apr 26, 2021 (155)
33	GNOMAD	ss4251258902	Apr 26, 2021 (155)
34	GNOMAD	ss4251258903	Apr 26, 2021 (155)
35	GNOMAD	ss4251258904	Apr 26, 2021 (155)
36	TOPMED	ss4917231845	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5206173590	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5206173591	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5206173592	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5206173593	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5206173594	Apr 26, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5290700119	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5290700120	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5290700121	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5290700123	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5290700124	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5485466845	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5485466846	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5485466847	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5485466848	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5755917254	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5755917255	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5755917256	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5755917257	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5755917258	Oct 16, 2022 (156)
56	EVA	ss5837925494	Oct 16, 2022 (156)
57	EVA	ss5837925495	Oct 16, 2022 (156)
58	EVA	ss5850368644	Oct 16, 2022 (156)
59	1000Genomes	NC_000012.11 - 47605858	Oct 12, 2018 (152)
60	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32007160 (NC_000012.11:47605858:A: 2121/3854) Row 32007161 (NC_000012.11:47605857:AAA: 415/3854)	-	Oct 12, 2018 (152)
61	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32007160 (NC_000012.11:47605858:A: 2121/3854) Row 32007161 (NC_000012.11:47605857:AAA: 415/3854)	-	Oct 12, 2018 (152)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406433670 (NC_000012.12:47212074::A 707/81368) Row 406433671 (NC_000012.12:47212074::AA 13/81668) Row 406433672 (NC_000012.12:47212074::AAA 1/81692)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406433670 (NC_000012.12:47212074::A 707/81368) Row 406433671 (NC_000012.12:47212074::AA 13/81668) Row 406433672 (NC_000012.12:47212074::AAA 1/81692)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406433670 (NC_000012.12:47212074::A 707/81368) Row 406433671 (NC_000012.12:47212074::AA 13/81668) Row 406433672 (NC_000012.12:47212074::AAA 1/81692)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406433670 (NC_000012.12:47212074::A 707/81368) Row 406433671 (NC_000012.12:47212074::AA 13/81668) Row 406433672 (NC_000012.12:47212074::AAA 1/81692)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406433670 (NC_000012.12:47212074::A 707/81368) Row 406433671 (NC_000012.12:47212074::AA 13/81668) Row 406433672 (NC_000012.12:47212074::AAA 1/81692)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406433670 (NC_000012.12:47212074::A 707/81368) Row 406433671 (NC_000012.12:47212074::AA 13/81668) Row 406433672 (NC_000012.12:47212074::AAA 1/81692)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406433670 (NC_000012.12:47212074::A 707/81368) Row 406433671 (NC_000012.12:47212074::AA 13/81668) Row 406433672 (NC_000012.12:47212074::AAA 1/81692)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 406433670 (NC_000012.12:47212074::A 707/81368) Row 406433671 (NC_000012.12:47212074::AA 13/81668) Row 406433672 (NC_000012.12:47212074::AAA 1/81692)...	-	Apr 26, 2021 (155)
70	Korean Genome Project Submission ignored due to conflicting rows: Row 28241904 (NC_000012.12:47212077:A: 490/1784) Row 28241905 (NC_000012.12:47212078::A 100/1784) Row 28241906 (NC_000012.12:47212076:AA: 343/1784)...	-	Apr 27, 2020 (154)
71	Korean Genome Project Submission ignored due to conflicting rows: Row 28241904 (NC_000012.12:47212077:A: 490/1784) Row 28241905 (NC_000012.12:47212078::A 100/1784) Row 28241906 (NC_000012.12:47212076:AA: 343/1784)...	-	Apr 27, 2020 (154)
72	Korean Genome Project Submission ignored due to conflicting rows: Row 28241904 (NC_000012.12:47212077:A: 490/1784) Row 28241905 (NC_000012.12:47212078::A 100/1784) Row 28241906 (NC_000012.12:47212076:AA: 343/1784)...	-	Apr 27, 2020 (154)
73	Korean Genome Project Submission ignored due to conflicting rows: Row 28241904 (NC_000012.12:47212077:A: 490/1784) Row 28241905 (NC_000012.12:47212078::A 100/1784) Row 28241906 (NC_000012.12:47212076:AA: 343/1784)...	-	Apr 27, 2020 (154)
74	Korean Genome Project Submission ignored due to conflicting rows: Row 28241904 (NC_000012.12:47212077:A: 490/1784) Row 28241905 (NC_000012.12:47212078::A 100/1784) Row 28241906 (NC_000012.12:47212076:AA: 343/1784)...	-	Apr 27, 2020 (154)
75	8.3KJPN Submission ignored due to conflicting rows: Row 64142897 (NC_000012.11:47605857:AA: 3995/16444) Row 64142898 (NC_000012.11:47605857:A: 3110/16444) Row 64142899 (NC_000012.11:47605857::A 116/16444)...	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 64142897 (NC_000012.11:47605857:AA: 3995/16444) Row 64142898 (NC_000012.11:47605857:A: 3110/16444) Row 64142899 (NC_000012.11:47605857::A 116/16444)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 64142897 (NC_000012.11:47605857:AA: 3995/16444) Row 64142898 (NC_000012.11:47605857:A: 3110/16444) Row 64142899 (NC_000012.11:47605857::A 116/16444)...	-	Apr 26, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 64142897 (NC_000012.11:47605857:AA: 3995/16444) Row 64142898 (NC_000012.11:47605857:A: 3110/16444) Row 64142899 (NC_000012.11:47605857::A 116/16444)...	-	Apr 26, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 64142897 (NC_000012.11:47605857:AA: 3995/16444) Row 64142898 (NC_000012.11:47605857:A: 3110/16444) Row 64142899 (NC_000012.11:47605857::A 116/16444)...	-	Apr 26, 2021 (155)
80	14KJPN Submission ignored due to conflicting rows: Row 89754358 (NC_000012.12:47212074:AA: 6360/27004) Row 89754359 (NC_000012.12:47212074:AAAA: 184/27004) Row 89754360 (NC_000012.12:47212074:A: 4669/27004)...	-	Oct 16, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 89754358 (NC_000012.12:47212074:AA: 6360/27004) Row 89754359 (NC_000012.12:47212074:AAAA: 184/27004) Row 89754360 (NC_000012.12:47212074:A: 4669/27004)...	-	Oct 16, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 89754358 (NC_000012.12:47212074:AA: 6360/27004) Row 89754359 (NC_000012.12:47212074:AAAA: 184/27004) Row 89754360 (NC_000012.12:47212074:A: 4669/27004)...	-	Oct 16, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 89754358 (NC_000012.12:47212074:AA: 6360/27004) Row 89754359 (NC_000012.12:47212074:AAAA: 184/27004) Row 89754360 (NC_000012.12:47212074:A: 4669/27004)...	-	Oct 16, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 89754358 (NC_000012.12:47212074:AA: 6360/27004) Row 89754359 (NC_000012.12:47212074:AAAA: 184/27004) Row 89754360 (NC_000012.12:47212074:A: 4669/27004)...	-	Oct 16, 2022 (156)
85	TopMed	NC_000012.12 - 47212075	Apr 26, 2021 (155)
86	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32007160 (NC_000012.11:47605858:A: 2005/3708) Row 32007161 (NC_000012.11:47605857:AAA: 414/3708)	-	Oct 12, 2018 (152)
87	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32007160 (NC_000012.11:47605858:A: 2005/3708) Row 32007161 (NC_000012.11:47605857:AAA: 414/3708)	-	Oct 12, 2018 (152)
88	ALFA	NC_000012.12 - 47212075	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)
rs63686561	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
13408559254	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
132777502, ss4251258904, ss4917231845	NC_000012.12:47212074:AAAAAAAA:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
13408559254	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
13408559254	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5206173594	NC_000012.11:47605857:AAAA:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3693610130, ss3971863906, ss4251258903, ss5290700124, ss5755917255	NC_000012.12:47212074:AAAA:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
13408559254	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1707454518, ss1707454570, ss3009636260, ss5206173593, ss5837925495	NC_000012.11:47605857:AAA:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4251258902, ss5290700121, ss5485466846, ss5755917258	NC_000012.12:47212074:AAA:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
13408559254	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3693610129, ss3971863907	NC_000012.12:47212075:AAA:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss80772196	NC_000012.9:45892142:AA:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3787217318, ss3792320633, ss3797203412, ss5206173590, ss5837925494	NC_000012.11:47605857:AA:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1710557963, ss1710557968	NC_000012.11:47605858:AA:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3064557213, ss4251258901, ss5290700120, ss5485466845, ss5755917254	NC_000012.12:47212074:AA:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
13408559254	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3693610128, ss3971863905	NC_000012.12:47212076:AA:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss294750134	NC_000012.10:45892124:A:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss294750135	NC_000012.10:45892143:A:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
57639239, ss1372126444, ss3833107577, ss5206173591	NC_000012.11:47605857:A:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
	NC_000012.11:47605858:A:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3815773931, ss4251258900, ss5290700119, ss5485466847, ss5755917256, ss5850368644	NC_000012.12:47212074:A:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
13408559254	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3693610127, ss3971863903	NC_000012.12:47212077:A:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss40245391	NT_029419.12:9749163:A:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss95595521	NT_029419.12:9749182:A:	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5206173592	NC_000012.11:47605857::A	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4251258897, ss5290700123, ss5485466848, ss5755917257	NC_000012.12:47212074::A	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
13408559254	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3693610126, ss3971863904	NC_000012.12:47212078::A	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4251258898	NC_000012.12:47212074::AA	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
13408559254	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4251258899	NC_000012.12:47212074::AAA	NC_000012.12:47212074:AAAAAAAAAAAA… NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(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 rs34413650

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

rs34413650