Name: rs750030369
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.

rs750030369

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:64451229-64451259 (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(CA)₁₂ / del(CA)₇ / del(CA)₆ / …
del(CA)₁₂ / del(CA)₇ / del(CA)₆ / del(CA)₅ / del(CA)₄ / del(CA)₃ / delCACA / delCA / dupCA / dupCACA / dup(CA)₃ / dup(CA)₄ / dup(CA)₅ / dup(CA)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(CA)₁₂=0.00000 (0/12164, ALFA)
del(CA)₇=0.00000 (0/12164, ALFA)
del(CA)₆=0.00000 (0/12164, ALFA) (+ 11 more)
del(CA)₅=0.00000 (0/12164, ALFA)
del(CA)₄=0.00000 (0/12164, ALFA)
del(CA)₃=0.00000 (0/12164, ALFA)
delCACA=0.00000 (0/12164, ALFA)
delCA=0.00000 (0/12164, ALFA)
dupCA=0.00000 (0/12164, ALFA)
dupCACA=0.00000 (0/12164, ALFA)
dup(CA)₃=0.00000 (0/12164, ALFA)
dup(CA)₄=0.00000 (0/12164, ALFA)
dup(CA)₅=0.00000 (0/12164, ALFA)
dup(CA)₆=0.00000 (0/12164, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PRICKLE2-DT : 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	12164	ACACACACACACACACACACACACACACACA=1.00000	ACACACA=0.00000, ACACACACACACACACA=0.00000, ACACACACACACACACACA=0.00000, ACACACACACACACACACACA=0.00000, ACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACACACACACACACACACA=0.00000	1.0	N/A
European	Sub	8980	ACACACACACACACACACACACACACACACA=1.0000	ACACACA=0.0000, ACACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACA=0.0000	1.0	N/A
African	Sub	2014	ACACACACACACACACACACACACACACACA=1.0000	ACACACA=0.0000, ACACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACA=0.0000	1.0	N/A
African Others	Sub	84	ACACACACACACACACACACACACACACACA=1.00	ACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	N/A
African American	Sub	1930	ACACACACACACACACACACACACACACACA=1.0000	ACACACA=0.0000, ACACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACA=0.0000	1.0	N/A
Asian	Sub	104	ACACACACACACACACACACACACACACACA=1.000	ACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.000	1.0	N/A
East Asian	Sub	82	ACACACACACACACACACACACACACACACA=1.00	ACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	N/A
Other Asian	Sub	22	ACACACACACACACACACACACACACACACA=1.00	ACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	N/A
Latin American 1	Sub	124	ACACACACACACACACACACACACACACACA=1.000	ACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.000	1.0	N/A
Latin American 2	Sub	456	ACACACACACACACACACACACACACACACA=1.000	ACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.000	1.0	N/A
South Asian	Sub	80	ACACACACACACACACACACACACACACACA=1.00	ACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	N/A
Other	Sub	406	ACACACACACACACACACACACACACACACA=1.000	ACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	12164	(AC)₁₅A=1.00000	del(CA)₁₂=0.00000, del(CA)₇=0.00000, del(CA)₆=0.00000, del(CA)₅=0.00000, del(CA)₄=0.00000, del(CA)₃=0.00000, delCACA=0.00000, delCA=0.00000, dupCA=0.00000, dupCACA=0.00000, dup(CA)₃=0.00000, dup(CA)₄=0.00000, dup(CA)₅=0.00000, dup(CA)₆=0.00000
Allele Frequency Aggregator	European	Sub	8980	(AC)₁₅A=1.0000	del(CA)₁₂=0.0000, del(CA)₇=0.0000, del(CA)₆=0.0000, del(CA)₅=0.0000, del(CA)₄=0.0000, del(CA)₃=0.0000, delCACA=0.0000, delCA=0.0000, dupCA=0.0000, dupCACA=0.0000, dup(CA)₃=0.0000, dup(CA)₄=0.0000, dup(CA)₅=0.0000, dup(CA)₆=0.0000
Allele Frequency Aggregator	African	Sub	2014	(AC)₁₅A=1.0000	del(CA)₁₂=0.0000, del(CA)₇=0.0000, del(CA)₆=0.0000, del(CA)₅=0.0000, del(CA)₄=0.0000, del(CA)₃=0.0000, delCACA=0.0000, delCA=0.0000, dupCA=0.0000, dupCACA=0.0000, dup(CA)₃=0.0000, dup(CA)₄=0.0000, dup(CA)₅=0.0000, dup(CA)₆=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	456	(AC)₁₅A=1.000	del(CA)₁₂=0.000, del(CA)₇=0.000, del(CA)₆=0.000, del(CA)₅=0.000, del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000, dup(CA)₅=0.000, dup(CA)₆=0.000
Allele Frequency Aggregator	Other	Sub	406	(AC)₁₅A=1.000	del(CA)₁₂=0.000, del(CA)₇=0.000, del(CA)₆=0.000, del(CA)₅=0.000, del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000, dup(CA)₅=0.000, dup(CA)₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	124	(AC)₁₅A=1.000	del(CA)₁₂=0.000, del(CA)₇=0.000, del(CA)₆=0.000, del(CA)₅=0.000, del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000, dup(CA)₅=0.000, dup(CA)₆=0.000
Allele Frequency Aggregator	Asian	Sub	104	(AC)₁₅A=1.000	del(CA)₁₂=0.000, del(CA)₇=0.000, del(CA)₆=0.000, del(CA)₅=0.000, del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000, dup(CA)₅=0.000, dup(CA)₆=0.000
Allele Frequency Aggregator	South Asian	Sub	80	(AC)₁₅A=1.00	del(CA)₁₂=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00, dup(CA)₆=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.64451230CA[3]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[8]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[9]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[10]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[11]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[12]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[13]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[14]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[16]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[17]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[18]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[19]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[20]
GRCh38.p14 chr 3	NC_000003.12:g.64451230CA[21]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[3]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[8]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[9]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[10]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[11]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[12]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[13]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[14]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[16]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[17]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[18]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[19]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[20]
GRCh37.p13 chr 3	NC_000003.11:g.64436906CA[21]

Gene: PRICKLE2-DT, uncharacterized PRICKLE2-DT (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRICKLE2-DT transcript variant X1	XR_245234.4:n.	N/A	Intron Variant
PRICKLE2-DT transcript variant X4	XR_940914.2:n.	N/A	Intron Variant
PRICKLE2-DT transcript variant X3	XR_940915.2:n.	N/A	Intron Variant
PRICKLE2-DT transcript variant X2	XR_940916.2: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	(AC)₁₅A=	del(CA)₁₂	del(CA)₇	del(CA)₆	del(CA)₅	del(CA)₄	del(CA)₃	delCACA	delCA	dupCA	dupCACA	dup(CA)₃	dup(CA)₄	dup(CA)₅	dup(CA)₆
GRCh38.p14 chr 3	NC_000003.12:g.64451229_64451259=	NC_000003.12:g.64451230CA[3]	NC_000003.12:g.64451230CA[8]	NC_000003.12:g.64451230CA[9]	NC_000003.12:g.64451230CA[10]	NC_000003.12:g.64451230CA[11]	NC_000003.12:g.64451230CA[12]	NC_000003.12:g.64451230CA[13]	NC_000003.12:g.64451230CA[14]	NC_000003.12:g.64451230CA[16]	NC_000003.12:g.64451230CA[17]	NC_000003.12:g.64451230CA[18]	NC_000003.12:g.64451230CA[19]	NC_000003.12:g.64451230CA[20]	NC_000003.12:g.64451230CA[21]
GRCh37.p13 chr 3	NC_000003.11:g.64436905_64436935=	NC_000003.11:g.64436906CA[3]	NC_000003.11:g.64436906CA[8]	NC_000003.11:g.64436906CA[9]	NC_000003.11:g.64436906CA[10]	NC_000003.11:g.64436906CA[11]	NC_000003.11:g.64436906CA[12]	NC_000003.11:g.64436906CA[13]	NC_000003.11:g.64436906CA[14]	NC_000003.11:g.64436906CA[16]	NC_000003.11:g.64436906CA[17]	NC_000003.11:g.64436906CA[18]	NC_000003.11:g.64436906CA[19]	NC_000003.11:g.64436906CA[20]	NC_000003.11:g.64436906CA[21]

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#.

35 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	DDI	ss1536355609	Apr 01, 2015 (144)
2	MCHAISSO	ss3065883964	Nov 08, 2017 (151)
3	EVA_DECODE	ss3709392454	Jul 13, 2019 (153)
4	EVA_DECODE	ss3709392455	Jul 13, 2019 (153)
5	EVA_DECODE	ss3709392456	Jul 13, 2019 (153)
6	EVA_DECODE	ss3709392457	Jul 13, 2019 (153)
7	EVA_DECODE	ss3709392458	Jul 13, 2019 (153)
8	EVA_DECODE	ss3709392459	Jul 13, 2019 (153)
9	ACPOP	ss3729956390	Jul 13, 2019 (153)
10	ACPOP	ss3729956391	Jul 13, 2019 (153)
11	ACPOP	ss3729956392	Jul 13, 2019 (153)
12	GNOMAD	ss4072610064	Apr 27, 2021 (155)
13	GNOMAD	ss4072610065	Apr 27, 2021 (155)
14	GNOMAD	ss4072610066	Apr 27, 2021 (155)
15	GNOMAD	ss4072610067	Apr 27, 2021 (155)
16	GNOMAD	ss4072610068	Apr 27, 2021 (155)
17	GNOMAD	ss4072610069	Apr 27, 2021 (155)
18	GNOMAD	ss4072610070	Apr 27, 2021 (155)
19	GNOMAD	ss4072610071	Apr 27, 2021 (155)
20	GNOMAD	ss4072610072	Apr 27, 2021 (155)
21	GNOMAD	ss4072610073	Apr 27, 2021 (155)
22	GNOMAD	ss4072610074	Apr 27, 2021 (155)
23	GNOMAD	ss4072610075	Apr 27, 2021 (155)
24	TOMMO_GENOMICS	ss5159529976	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5159529977	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5159529978	Apr 27, 2021 (155)
27	1000G_HIGH_COVERAGE	ss5254371542	Oct 12, 2022 (156)
28	HUGCELL_USP	ss5453730686	Oct 12, 2022 (156)
29	HUGCELL_USP	ss5453730687	Oct 12, 2022 (156)
30	HUGCELL_USP	ss5453730688	Oct 12, 2022 (156)
31	HUGCELL_USP	ss5453730689	Oct 12, 2022 (156)
32	TOMMO_GENOMICS	ss5691302416	Oct 12, 2022 (156)
33	TOMMO_GENOMICS	ss5691302417	Oct 12, 2022 (156)
34	TOMMO_GENOMICS	ss5691302418	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5691302419	Oct 12, 2022 (156)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 110214141 (NC_000003.12:64451228::AC 2333/111764) Row 110214142 (NC_000003.12:64451228::ACAC 2068/111766) Row 110214143 (NC_000003.12:64451228::ACACAC 205/111800)...	-	Apr 27, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 110214141 (NC_000003.12:64451228::AC 2333/111764) Row 110214142 (NC_000003.12:64451228::ACAC 2068/111766) Row 110214143 (NC_000003.12:64451228::ACACAC 205/111800)...	-	Apr 27, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 110214141 (NC_000003.12:64451228::AC 2333/111764) Row 110214142 (NC_000003.12:64451228::ACAC 2068/111766) Row 110214143 (NC_000003.12:64451228::ACACAC 205/111800)...	-	Apr 27, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 110214141 (NC_000003.12:64451228::AC 2333/111764) Row 110214142 (NC_000003.12:64451228::ACAC 2068/111766) Row 110214143 (NC_000003.12:64451228::ACACAC 205/111800)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 110214141 (NC_000003.12:64451228::AC 2333/111764) Row 110214142 (NC_000003.12:64451228::ACAC 2068/111766) Row 110214143 (NC_000003.12:64451228::ACACAC 205/111800)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 110214141 (NC_000003.12:64451228::AC 2333/111764) Row 110214142 (NC_000003.12:64451228::ACAC 2068/111766) Row 110214143 (NC_000003.12:64451228::ACACAC 205/111800)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 110214141 (NC_000003.12:64451228::AC 2333/111764) Row 110214142 (NC_000003.12:64451228::ACAC 2068/111766) Row 110214143 (NC_000003.12:64451228::ACACAC 205/111800)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 110214141 (NC_000003.12:64451228::AC 2333/111764) Row 110214142 (NC_000003.12:64451228::ACAC 2068/111766) Row 110214143 (NC_000003.12:64451228::ACACAC 205/111800)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 110214141 (NC_000003.12:64451228::AC 2333/111764) Row 110214142 (NC_000003.12:64451228::ACAC 2068/111766) Row 110214143 (NC_000003.12:64451228::ACACAC 205/111800)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 110214141 (NC_000003.12:64451228::AC 2333/111764) Row 110214142 (NC_000003.12:64451228::ACAC 2068/111766) Row 110214143 (NC_000003.12:64451228::ACACAC 205/111800)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 110214141 (NC_000003.12:64451228::AC 2333/111764) Row 110214142 (NC_000003.12:64451228::ACAC 2068/111766) Row 110214143 (NC_000003.12:64451228::ACACAC 205/111800)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 110214141 (NC_000003.12:64451228::AC 2333/111764) Row 110214142 (NC_000003.12:64451228::ACAC 2068/111766) Row 110214143 (NC_000003.12:64451228::ACACAC 205/111800)...	-	Apr 27, 2021 (155)
48	Northern Sweden Submission ignored due to conflicting rows: Row 3241255 (NC_000003.11:64436904:AC: 1/558) Row 3241256 (NC_000003.11:64436904::AC 9/558) Row 3241257 (NC_000003.11:64436904:ACAC: 5/558)	-	Jul 13, 2019 (153)
49	Northern Sweden Submission ignored due to conflicting rows: Row 3241255 (NC_000003.11:64436904:AC: 1/558) Row 3241256 (NC_000003.11:64436904::AC 9/558) Row 3241257 (NC_000003.11:64436904:ACAC: 5/558)	-	Jul 13, 2019 (153)
50	Northern Sweden Submission ignored due to conflicting rows: Row 3241255 (NC_000003.11:64436904:AC: 1/558) Row 3241256 (NC_000003.11:64436904::AC 9/558) Row 3241257 (NC_000003.11:64436904:ACAC: 5/558)	-	Jul 13, 2019 (153)
51	8.3KJPN Submission ignored due to conflicting rows: Row 17499283 (NC_000003.11:64436904:AC: 40/15730) Row 17499284 (NC_000003.11:64436904:ACAC: 382/15730) Row 17499285 (NC_000003.11:64436904::AC 3/15730)	-	Apr 27, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 17499283 (NC_000003.11:64436904:AC: 40/15730) Row 17499284 (NC_000003.11:64436904:ACAC: 382/15730) Row 17499285 (NC_000003.11:64436904::AC 3/15730)	-	Apr 27, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 17499283 (NC_000003.11:64436904:AC: 40/15730) Row 17499284 (NC_000003.11:64436904:ACAC: 382/15730) Row 17499285 (NC_000003.11:64436904::AC 3/15730)	-	Apr 27, 2021 (155)
54	14KJPN Submission ignored due to conflicting rows: Row 25139520 (NC_000003.12:64451228:ACAC: 651/26196) Row 25139521 (NC_000003.12:64451228:ACACAC: 3/26196) Row 25139522 (NC_000003.12:64451228::AC 4/26196)...	-	Oct 12, 2022 (156)
55	14KJPN Submission ignored due to conflicting rows: Row 25139520 (NC_000003.12:64451228:ACAC: 651/26196) Row 25139521 (NC_000003.12:64451228:ACACAC: 3/26196) Row 25139522 (NC_000003.12:64451228::AC 4/26196)...	-	Oct 12, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 25139520 (NC_000003.12:64451228:ACAC: 651/26196) Row 25139521 (NC_000003.12:64451228:ACACAC: 3/26196) Row 25139522 (NC_000003.12:64451228::AC 4/26196)...	-	Oct 12, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 25139520 (NC_000003.12:64451228:ACAC: 651/26196) Row 25139521 (NC_000003.12:64451228:ACACAC: 3/26196) Row 25139522 (NC_000003.12:64451228::AC 4/26196)...	-	Oct 12, 2022 (156)
58	ALFA	NC_000003.12 - 64451229	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4072610075	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACAC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACA	(self)
ss3709392459, ss4072610074	NC_000003.12:64451228:ACACACACACAC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACA	(self)
ss4072610073	NC_000003.12:64451228:ACACACACAC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	(self)
ss3709392458	NC_000003.12:64451230:ACACACACAC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	(self)
ss4072610072	NC_000003.12:64451228:ACACACAC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA	(self)
ss1536355609	NC_000003.11:64436904:ACACAC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
ss4072610071, ss5453730688, ss5691302417	NC_000003.12:64451228:ACACAC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
ss3709392457	NC_000003.12:64451234:ACACAC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
ss3729956392, ss5159529977	NC_000003.11:64436904:ACAC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
ss3065883964, ss4072610070, ss5254371542, ss5453730689, ss5691302416	NC_000003.12:64451228:ACAC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
ss3709392456	NC_000003.12:64451236:ACAC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
ss3729956390, ss5159529976	NC_000003.11:64436904:AC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
ss4072610069, ss5691302419	NC_000003.12:64451228:AC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
ss3709392455	NC_000003.12:64451238:AC:	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
ss3729956391, ss5159529978	NC_000003.11:64436904::AC	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA	(self)
ss4072610064, ss5453730687, ss5691302418	NC_000003.12:64451228::AC	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA	(self)
ss3709392454	NC_000003.12:64451240::AC	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA	(self)
ss4072610065, ss5453730686	NC_000003.12:64451228::ACAC	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss4072610066	NC_000003.12:64451228::ACACAC	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
ss4072610067	NC_000003.12:64451228::ACACACAC	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA	(self)
ss4072610068	NC_000003.12:64451228::ACACACACACAC	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
4359470673	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
253009898, ss3392715908	NC_000003.12:64451228::ACACACACAC	NC_000003.12:64451228:ACACACACACAC… NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA

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

No publications for rs750030369

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

rs750030369