Name: rs200430332
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.

rs200430332

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:102801922-102801936 (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)₅ / delAAA / delAA / delA / …
del(A)₅ / delAAA / delAA / delA / dupA / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₅=0.000004 (1/264690, TOPMED)
delA=0.11651 (1269/10892, ALFA)
delA=0.284 (165/582, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FAM185A : 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	10892	AAAAAAAAAAAAAAA=0.88276	AAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00009, AAAAAAAAAAAAAA=0.11651, AAAAAAAAAAAAAAAA=0.00046, AAAAAAAAAAAAAAAAA=0.00018, AAAAAAAAAAAAAAAAAA=0.00000	0.800922	0.03447	0.164608	32
European	Sub	9812	AAAAAAAAAAAAAAA=0.8704	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0001, AAAAAAAAAAAAAA=0.1290, AAAAAAAAAAAAAAAA=0.0005, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000	0.779619	0.038265	0.182116	32
African	Sub	482	AAAAAAAAAAAAAAA=0.996	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.004, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	18	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	464	AAAAAAAAAAAAAAA=0.996	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.004, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	20	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	16	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	AAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	56	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	300	AAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	38	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	184	AAAAAAAAAAAAAAA=0.984	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.016, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	0.967391	0.0	0.032609	0

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(A)₁₅=0.999996	del(A)₅=0.000004
Allele Frequency Aggregator	Total	Global	10892	(A)₁₅=0.88276	del(A)₅=0.00000, delAAA=0.00000, delAA=0.00009, delA=0.11651, dupA=0.00046, dupAA=0.00018, dupAAA=0.00000
Allele Frequency Aggregator	European	Sub	9812	(A)₁₅=0.8704	del(A)₅=0.0000, delAAA=0.0000, delAA=0.0001, delA=0.1290, dupA=0.0005, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	482	(A)₁₅=0.996	del(A)₅=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.004, dupAAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	300	(A)₁₅=1.000	del(A)₅=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	184	(A)₁₅=0.984	del(A)₅=0.000, delAAA=0.000, delAA=0.000, delA=0.016, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	56	(A)₁₅=1.00	del(A)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	38	(A)₁₅=1.00	del(A)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	20	(A)₁₅=1.00	del(A)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Northern Sweden	ACPOP	Study-wide	582	(A)₁₅=0.716	delA=0.284

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 7	NC_000007.14:g.102801932_102801936del
GRCh38.p14 chr 7	NC_000007.14:g.102801934_102801936del
GRCh38.p14 chr 7	NC_000007.14:g.102801935_102801936del
GRCh38.p14 chr 7	NC_000007.14:g.102801936del
GRCh38.p14 chr 7	NC_000007.14:g.102801936dup
GRCh38.p14 chr 7	NC_000007.14:g.102801935_102801936dup
GRCh38.p14 chr 7	NC_000007.14:g.102801934_102801936dup
GRCh37.p13 chr 7	NC_000007.13:g.102442379_102442383del
GRCh37.p13 chr 7	NC_000007.13:g.102442381_102442383del
GRCh37.p13 chr 7	NC_000007.13:g.102442382_102442383del
GRCh37.p13 chr 7	NC_000007.13:g.102442383del
GRCh37.p13 chr 7	NC_000007.13:g.102442383dup
GRCh37.p13 chr 7	NC_000007.13:g.102442382_102442383dup
GRCh37.p13 chr 7	NC_000007.13:g.102442381_102442383dup

Gene: FAM185A, family with sequence similarity 185 member A (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FAM185A transcript variant 1	NM_001145268.2:c.1067-635… NM_001145268.2:c.1067-6358_1067-6354del	N/A	Intron Variant
FAM185A transcript variant 2	NM_001145269.2:c.716-6358… NM_001145269.2:c.716-6358_716-6354del	N/A	Intron Variant
FAM185A transcript variant 4	NM_001350987.2:c.1025-635… NM_001350987.2:c.1025-6358_1025-6354del	N/A	Intron Variant
FAM185A transcript variant 3	NR_026879.2:n.	N/A	Intron Variant
FAM185A transcript variant 5	NR_146976.2:n.	N/A	Intron Variant
FAM185A transcript variant 6	NR_146977.2:n.	N/A	Intron Variant
FAM185A transcript variant 7	NR_146978.2:n.	N/A	Intron Variant
FAM185A transcript variant 8	NR_146979.3:n.	N/A	Intron Variant
FAM185A transcript variant 9	NR_146980.2:n.	N/A	Intron Variant
FAM185A transcript variant 10	NR_146981.3:n.	N/A	Intron Variant
FAM185A transcript variant 11	NR_146982.3:n.	N/A	Intron Variant
FAM185A transcript variant 12	NR_146983.2:n.	N/A	Intron Variant
FAM185A transcript variant 13	NR_146984.3:n.	N/A	Intron Variant
FAM185A transcript variant 14	NR_146985.2:n.	N/A	Intron Variant
FAM185A transcript variant 15	NR_146986.3:n.	N/A	Intron Variant
FAM185A transcript variant 16	NR_146987.2:n.	N/A	Intron Variant
FAM185A transcript variant 17	NR_146989.2: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	(A)₁₅=	del(A)₅	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 7	NC_000007.14:g.102801922_102801936=	NC_000007.14:g.102801932_102801936del	NC_000007.14:g.102801934_102801936del	NC_000007.14:g.102801935_102801936del	NC_000007.14:g.102801936del	NC_000007.14:g.102801936dup	NC_000007.14:g.102801935_102801936dup	NC_000007.14:g.102801934_102801936dup
GRCh37.p13 chr 7	NC_000007.13:g.102442369_102442383=	NC_000007.13:g.102442379_102442383del	NC_000007.13:g.102442381_102442383del	NC_000007.13:g.102442382_102442383del	NC_000007.13:g.102442383del	NC_000007.13:g.102442383dup	NC_000007.13:g.102442382_102442383dup	NC_000007.13:g.102442381_102442383dup
FAM185A transcript variant 1	NM_001145268.1:c.1067-6368=	NM_001145268.1:c.1067-6358_1067-6354del	NM_001145268.1:c.1067-6356_1067-6354del	NM_001145268.1:c.1067-6355_1067-6354del	NM_001145268.1:c.1067-6354del	NM_001145268.1:c.1067-6354dup	NM_001145268.1:c.1067-6355_1067-6354dup	NM_001145268.1:c.1067-6356_1067-6354dup
FAM185A transcript variant 1	NM_001145268.2:c.1067-6368=	NM_001145268.2:c.1067-6358_1067-6354del	NM_001145268.2:c.1067-6356_1067-6354del	NM_001145268.2:c.1067-6355_1067-6354del	NM_001145268.2:c.1067-6354del	NM_001145268.2:c.1067-6354dup	NM_001145268.2:c.1067-6355_1067-6354dup	NM_001145268.2:c.1067-6356_1067-6354dup
FAM185A transcript variant 2	NM_001145269.1:c.716-6368=	NM_001145269.1:c.716-6358_716-6354del	NM_001145269.1:c.716-6356_716-6354del	NM_001145269.1:c.716-6355_716-6354del	NM_001145269.1:c.716-6354del	NM_001145269.1:c.716-6354dup	NM_001145269.1:c.716-6355_716-6354dup	NM_001145269.1:c.716-6356_716-6354dup
FAM185A transcript variant 2	NM_001145269.2:c.716-6368=	NM_001145269.2:c.716-6358_716-6354del	NM_001145269.2:c.716-6356_716-6354del	NM_001145269.2:c.716-6355_716-6354del	NM_001145269.2:c.716-6354del	NM_001145269.2:c.716-6354dup	NM_001145269.2:c.716-6355_716-6354dup	NM_001145269.2:c.716-6356_716-6354dup
FAM185A transcript variant 4	NM_001350987.2:c.1025-6368=	NM_001350987.2:c.1025-6358_1025-6354del	NM_001350987.2:c.1025-6356_1025-6354del	NM_001350987.2:c.1025-6355_1025-6354del	NM_001350987.2:c.1025-6354del	NM_001350987.2:c.1025-6354dup	NM_001350987.2:c.1025-6355_1025-6354dup	NM_001350987.2:c.1025-6356_1025-6354dup

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#.

36 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss288862094	May 04, 2012 (137)
2	SSMP	ss663730274	Apr 01, 2015 (144)
3	SYSTEMSBIOZJU	ss2626800855	Nov 08, 2017 (151)
4	SWEGEN	ss3001749696	Nov 08, 2017 (151)
5	EVA_DECODE	ss3720345848	Jul 13, 2019 (153)
6	EVA_DECODE	ss3720345849	Jul 13, 2019 (153)
7	EVA_DECODE	ss3720345850	Jul 13, 2019 (153)
8	ACPOP	ss3734920865	Jul 13, 2019 (153)
9	PACBIO	ss3785911667	Jul 13, 2019 (153)
10	EVA	ss3830732640	Apr 26, 2020 (154)
11	EVA	ss3838865181	Apr 26, 2020 (154)
12	EVA	ss3844320623	Apr 26, 2020 (154)
13	GNOMAD	ss4169822073	Apr 26, 2021 (155)
14	GNOMAD	ss4169822074	Apr 26, 2021 (155)
15	GNOMAD	ss4169822075	Apr 26, 2021 (155)
16	GNOMAD	ss4169822076	Apr 26, 2021 (155)
17	GNOMAD	ss4169822077	Apr 26, 2021 (155)
18	GNOMAD	ss4169822078	Apr 26, 2021 (155)
19	TOPMED	ss4757282653	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5184779424	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5184779425	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5184779426	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5184779427	Apr 26, 2021 (155)
24	1000G_HIGH_COVERAGE	ss5274115212	Oct 15, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5274115213	Oct 15, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5274115214	Oct 15, 2022 (156)
27	1000G_HIGH_COVERAGE	ss5274115215	Oct 15, 2022 (156)
28	HUGCELL_USP	ss5471068252	Oct 15, 2022 (156)
29	HUGCELL_USP	ss5471068254	Oct 15, 2022 (156)
30	HUGCELL_USP	ss5471068255	Oct 15, 2022 (156)
31	HUGCELL_USP	ss5471068256	Oct 15, 2022 (156)
32	TOMMO_GENOMICS	ss5725536560	Oct 15, 2022 (156)
33	TOMMO_GENOMICS	ss5725536561	Oct 15, 2022 (156)
34	TOMMO_GENOMICS	ss5725536562	Oct 15, 2022 (156)
35	TOMMO_GENOMICS	ss5725536564	Oct 15, 2022 (156)
36	EVA	ss5856029068	Oct 15, 2022 (156)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271298578 (NC_000007.14:102801921::A 525/115224) Row 271298579 (NC_000007.14:102801921::AA 900/115262) Row 271298580 (NC_000007.14:102801921::AAA 2/115288)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271298578 (NC_000007.14:102801921::A 525/115224) Row 271298579 (NC_000007.14:102801921::AA 900/115262) Row 271298580 (NC_000007.14:102801921::AAA 2/115288)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271298578 (NC_000007.14:102801921::A 525/115224) Row 271298579 (NC_000007.14:102801921::AA 900/115262) Row 271298580 (NC_000007.14:102801921::AAA 2/115288)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271298578 (NC_000007.14:102801921::A 525/115224) Row 271298579 (NC_000007.14:102801921::AA 900/115262) Row 271298580 (NC_000007.14:102801921::AAA 2/115288)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271298578 (NC_000007.14:102801921::A 525/115224) Row 271298579 (NC_000007.14:102801921::AA 900/115262) Row 271298580 (NC_000007.14:102801921::AAA 2/115288)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271298578 (NC_000007.14:102801921::A 525/115224) Row 271298579 (NC_000007.14:102801921::AA 900/115262) Row 271298580 (NC_000007.14:102801921::AAA 2/115288)...	-	Apr 26, 2021 (155)
43	Northern Sweden	NC_000007.13 - 102442369	Jul 13, 2019 (153)
44	8.3KJPN Submission ignored due to conflicting rows: Row 42748731 (NC_000007.13:102442368:A: 9278/16754) Row 42748732 (NC_000007.13:102442368:AA: 5/16754) Row 42748733 (NC_000007.13:102442368::A 95/16754)...	-	Apr 26, 2021 (155)
45	8.3KJPN Submission ignored due to conflicting rows: Row 42748731 (NC_000007.13:102442368:A: 9278/16754) Row 42748732 (NC_000007.13:102442368:AA: 5/16754) Row 42748733 (NC_000007.13:102442368::A 95/16754)...	-	Apr 26, 2021 (155)
46	8.3KJPN Submission ignored due to conflicting rows: Row 42748731 (NC_000007.13:102442368:A: 9278/16754) Row 42748732 (NC_000007.13:102442368:AA: 5/16754) Row 42748733 (NC_000007.13:102442368::A 95/16754)...	-	Apr 26, 2021 (155)
47	8.3KJPN Submission ignored due to conflicting rows: Row 42748731 (NC_000007.13:102442368:A: 9278/16754) Row 42748732 (NC_000007.13:102442368:AA: 5/16754) Row 42748733 (NC_000007.13:102442368::A 95/16754)...	-	Apr 26, 2021 (155)
48	14KJPN Submission ignored due to conflicting rows: Row 59373664 (NC_000007.14:102801921:A: 15841/28258) Row 59373665 (NC_000007.14:102801921:AA: 16/28258) Row 59373666 (NC_000007.14:102801921::A 147/28258)...	-	Oct 15, 2022 (156)
49	14KJPN Submission ignored due to conflicting rows: Row 59373664 (NC_000007.14:102801921:A: 15841/28258) Row 59373665 (NC_000007.14:102801921:AA: 16/28258) Row 59373666 (NC_000007.14:102801921::A 147/28258)...	-	Oct 15, 2022 (156)
50	14KJPN Submission ignored due to conflicting rows: Row 59373664 (NC_000007.14:102801921:A: 15841/28258) Row 59373665 (NC_000007.14:102801921:AA: 16/28258) Row 59373666 (NC_000007.14:102801921::A 147/28258)...	-	Oct 15, 2022 (156)
51	14KJPN Submission ignored due to conflicting rows: Row 59373664 (NC_000007.14:102801921:A: 15841/28258) Row 59373665 (NC_000007.14:102801921:AA: 16/28258) Row 59373666 (NC_000007.14:102801921::A 147/28258)...	-	Oct 15, 2022 (156)
52	TopMed	NC_000007.14 - 102801922	Apr 26, 2021 (155)
53	ALFA	NC_000007.14 - 102801922	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5184779427	NC_000007.13:102442368:AAAAA:	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
594660212, ss4757282653, ss5725536564	NC_000007.14:102801921:AAAAA:	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
7048406089	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4169822078	NC_000007.14:102801921:AAA:	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
7048406089	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss5184779425	NC_000007.13:102442368:AA:	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3720345850, ss4169822077, ss5274115213, ss5471068254, ss5725536561	NC_000007.14:102801921:AA:	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
7048406089	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss288862094	NC_000007.12:102229604:A:	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
8205730, ss663730274, ss2626800855, ss3001749696, ss3734920865, ss3785911667, ss3830732640, ss3838865181, ss5184779424	NC_000007.13:102442368:A:	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3844320623, ss4169822076, ss5274115212, ss5471068252, ss5725536560, ss5856029068	NC_000007.14:102801921:A:	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
7048406089	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3720345849	NC_000007.14:102801922:A:	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5184779426	NC_000007.13:102442368::A	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4169822073, ss5274115215, ss5471068255, ss5725536562	NC_000007.14:102801921::A	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
7048406089	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3720345848	NC_000007.14:102801923::A	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4169822074, ss5274115214, ss5471068256	NC_000007.14:102801921::AA	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7048406089	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4169822075	NC_000007.14:102801921::AAA	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7048406089	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2465773787	NC_000007.13:102442368::AA	NC_000007.14:102801921:AAAAAAAAAAA… NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

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

No publications for rs200430332

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

rs200430332