Name: rs58456397
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.

rs58456397

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:38912504-38912523 (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)₉ / del(A)₈ / del…
del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₈=0.000004 (1/264690, TOPMED)
dupA=0.03020 (398/13178, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PPP1R16B : 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	13178	AAAAAAAAAAAAAAAAAAAA=0.95872	AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00933, AAAAAAAAAAAAAAAAAAAAA=0.03020, AAAAAAAAAAAAAAAAAAAAAA=0.00061, AAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00076, AAAAAAAAAAAAAAAAAAAAAAAA=0.00038	0.946459	0.006693	0.046848	32
European	Sub	10936	AAAAAAAAAAAAAAAAAAAA=0.95044	AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.01125, AAAAAAAAAAAAAAAAAAAAA=0.03621, AAAAAAAAAAAAAAAAAAAAAA=0.00073, AAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00091, AAAAAAAAAAAAAAAAAAAAAAAA=0.00046	0.93552	0.008107	0.056373	32
African	Sub	1382	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	58	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1324	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	54	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	42	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	12	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	80	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	354	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	68	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	304	AAAAAAAAAAAAAAAAAAAA=0.993	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.007, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	0.986842	0.0	0.013158	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(A)₂₀=0.999996	del(A)₈=0.000004
Allele Frequency Aggregator	Total	Global	13178	(A)₂₀=0.95872	del(A)₁₀=0.00000, del(A)₉=0.00000, del(A)₈=0.00000, del(A)₄=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00933, dupA=0.03020, dupAA=0.00061, dupAAA=0.00000, dup(A)₄=0.00038, dup(A)₅=0.00076
Allele Frequency Aggregator	European	Sub	10936	(A)₂₀=0.95044	del(A)₁₀=0.00000, del(A)₉=0.00000, del(A)₈=0.00000, del(A)₄=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.01125, dupA=0.03621, dupAA=0.00073, dupAAA=0.00000, dup(A)₄=0.00046, dup(A)₅=0.00091
Allele Frequency Aggregator	African	Sub	1382	(A)₂₀=1.0000	del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	354	(A)₂₀=1.000	del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	304	(A)₂₀=0.993	del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.007, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	80	(A)₂₀=1.00	del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	68	(A)₂₀=1.00	del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Asian	Sub	54	(A)₂₀=1.00	del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=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 20	NC_000020.11:g.38912514_38912523del
GRCh38.p14 chr 20	NC_000020.11:g.38912515_38912523del
GRCh38.p14 chr 20	NC_000020.11:g.38912516_38912523del
GRCh38.p14 chr 20	NC_000020.11:g.38912518_38912523del
GRCh38.p14 chr 20	NC_000020.11:g.38912519_38912523del
GRCh38.p14 chr 20	NC_000020.11:g.38912520_38912523del
GRCh38.p14 chr 20	NC_000020.11:g.38912521_38912523del
GRCh38.p14 chr 20	NC_000020.11:g.38912522_38912523del
GRCh38.p14 chr 20	NC_000020.11:g.38912523del
GRCh38.p14 chr 20	NC_000020.11:g.38912523dup
GRCh38.p14 chr 20	NC_000020.11:g.38912522_38912523dup
GRCh38.p14 chr 20	NC_000020.11:g.38912521_38912523dup
GRCh38.p14 chr 20	NC_000020.11:g.38912520_38912523dup
GRCh38.p14 chr 20	NC_000020.11:g.38912519_38912523dup
GRCh38.p14 chr 20	NC_000020.11:g.38912518_38912523dup
GRCh38.p14 chr 20	NC_000020.11:g.38912517_38912523dup
GRCh38.p14 chr 20	NC_000020.11:g.38912516_38912523dup
GRCh37.p13 chr 20	NC_000020.10:g.37541157_37541166del
GRCh37.p13 chr 20	NC_000020.10:g.37541158_37541166del
GRCh37.p13 chr 20	NC_000020.10:g.37541159_37541166del
GRCh37.p13 chr 20	NC_000020.10:g.37541161_37541166del
GRCh37.p13 chr 20	NC_000020.10:g.37541162_37541166del
GRCh37.p13 chr 20	NC_000020.10:g.37541163_37541166del
GRCh37.p13 chr 20	NC_000020.10:g.37541164_37541166del
GRCh37.p13 chr 20	NC_000020.10:g.37541165_37541166del
GRCh37.p13 chr 20	NC_000020.10:g.37541166del
GRCh37.p13 chr 20	NC_000020.10:g.37541166dup
GRCh37.p13 chr 20	NC_000020.10:g.37541165_37541166dup
GRCh37.p13 chr 20	NC_000020.10:g.37541164_37541166dup
GRCh37.p13 chr 20	NC_000020.10:g.37541163_37541166dup
GRCh37.p13 chr 20	NC_000020.10:g.37541162_37541166dup
GRCh37.p13 chr 20	NC_000020.10:g.37541161_37541166dup
GRCh37.p13 chr 20	NC_000020.10:g.37541160_37541166dup
GRCh37.p13 chr 20	NC_000020.10:g.37541159_37541166dup

Gene: PPP1R16B, protein phosphatase 1 regulatory subunit 16B (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PPP1R16B transcript variant 2	NM_001172735.3:c.1068+432… NM_001172735.3:c.1068+4321_1068+4330del	N/A	Intron Variant
PPP1R16B transcript variant 1	NM_015568.4:c.1194+4321_1… NM_015568.4:c.1194+4321_1194+4330del	N/A	Intron Variant
PPP1R16B transcript variant X1	XM_011528768.4:c.1206+432… XM_011528768.4:c.1206+4321_1206+4330del	N/A	Intron Variant
PPP1R16B transcript variant X2	XM_047440086.1:c.597+4321… XM_047440086.1:c.597+4321_597+4330del	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)₉	del(A)₈	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈
GRCh38.p14 chr 20	NC_000020.11:g.38912504_38912523=	NC_000020.11:g.38912514_38912523del	NC_000020.11:g.38912515_38912523del	NC_000020.11:g.38912516_38912523del	NC_000020.11:g.38912518_38912523del	NC_000020.11:g.38912519_38912523del	NC_000020.11:g.38912520_38912523del	NC_000020.11:g.38912521_38912523del	NC_000020.11:g.38912522_38912523del	NC_000020.11:g.38912523del	NC_000020.11:g.38912523dup	NC_000020.11:g.38912522_38912523dup	NC_000020.11:g.38912521_38912523dup	NC_000020.11:g.38912520_38912523dup	NC_000020.11:g.38912519_38912523dup	NC_000020.11:g.38912518_38912523dup	NC_000020.11:g.38912517_38912523dup	NC_000020.11:g.38912516_38912523dup
GRCh37.p13 chr 20	NC_000020.10:g.37541147_37541166=	NC_000020.10:g.37541157_37541166del	NC_000020.10:g.37541158_37541166del	NC_000020.10:g.37541159_37541166del	NC_000020.10:g.37541161_37541166del	NC_000020.10:g.37541162_37541166del	NC_000020.10:g.37541163_37541166del	NC_000020.10:g.37541164_37541166del	NC_000020.10:g.37541165_37541166del	NC_000020.10:g.37541166del	NC_000020.10:g.37541166dup	NC_000020.10:g.37541165_37541166dup	NC_000020.10:g.37541164_37541166dup	NC_000020.10:g.37541163_37541166dup	NC_000020.10:g.37541162_37541166dup	NC_000020.10:g.37541161_37541166dup	NC_000020.10:g.37541160_37541166dup	NC_000020.10:g.37541159_37541166dup
PPP1R16B transcript variant 2	NM_001172735.1:c.1068+4311=	NM_001172735.1:c.1068+4321_1068+4330del	NM_001172735.1:c.1068+4322_1068+4330del	NM_001172735.1:c.1068+4323_1068+4330del	NM_001172735.1:c.1068+4325_1068+4330del	NM_001172735.1:c.1068+4326_1068+4330del	NM_001172735.1:c.1068+4327_1068+4330del	NM_001172735.1:c.1068+4328_1068+4330del	NM_001172735.1:c.1068+4329_1068+4330del	NM_001172735.1:c.1068+4330del	NM_001172735.1:c.1068+4330dup	NM_001172735.1:c.1068+4329_1068+4330dup	NM_001172735.1:c.1068+4328_1068+4330dup	NM_001172735.1:c.1068+4327_1068+4330dup	NM_001172735.1:c.1068+4326_1068+4330dup	NM_001172735.1:c.1068+4325_1068+4330dup	NM_001172735.1:c.1068+4324_1068+4330dup	NM_001172735.1:c.1068+4323_1068+4330dup
PPP1R16B transcript variant 2	NM_001172735.3:c.1068+4311=	NM_001172735.3:c.1068+4321_1068+4330del	NM_001172735.3:c.1068+4322_1068+4330del	NM_001172735.3:c.1068+4323_1068+4330del	NM_001172735.3:c.1068+4325_1068+4330del	NM_001172735.3:c.1068+4326_1068+4330del	NM_001172735.3:c.1068+4327_1068+4330del	NM_001172735.3:c.1068+4328_1068+4330del	NM_001172735.3:c.1068+4329_1068+4330del	NM_001172735.3:c.1068+4330del	NM_001172735.3:c.1068+4330dup	NM_001172735.3:c.1068+4329_1068+4330dup	NM_001172735.3:c.1068+4328_1068+4330dup	NM_001172735.3:c.1068+4327_1068+4330dup	NM_001172735.3:c.1068+4326_1068+4330dup	NM_001172735.3:c.1068+4325_1068+4330dup	NM_001172735.3:c.1068+4324_1068+4330dup	NM_001172735.3:c.1068+4323_1068+4330dup
PPP1R16B transcript variant 1	NM_015568.2:c.1194+4311=	NM_015568.2:c.1194+4321_1194+4330del	NM_015568.2:c.1194+4322_1194+4330del	NM_015568.2:c.1194+4323_1194+4330del	NM_015568.2:c.1194+4325_1194+4330del	NM_015568.2:c.1194+4326_1194+4330del	NM_015568.2:c.1194+4327_1194+4330del	NM_015568.2:c.1194+4328_1194+4330del	NM_015568.2:c.1194+4329_1194+4330del	NM_015568.2:c.1194+4330del	NM_015568.2:c.1194+4330dup	NM_015568.2:c.1194+4329_1194+4330dup	NM_015568.2:c.1194+4328_1194+4330dup	NM_015568.2:c.1194+4327_1194+4330dup	NM_015568.2:c.1194+4326_1194+4330dup	NM_015568.2:c.1194+4325_1194+4330dup	NM_015568.2:c.1194+4324_1194+4330dup	NM_015568.2:c.1194+4323_1194+4330dup
PPP1R16B transcript variant 1	NM_015568.4:c.1194+4311=	NM_015568.4:c.1194+4321_1194+4330del	NM_015568.4:c.1194+4322_1194+4330del	NM_015568.4:c.1194+4323_1194+4330del	NM_015568.4:c.1194+4325_1194+4330del	NM_015568.4:c.1194+4326_1194+4330del	NM_015568.4:c.1194+4327_1194+4330del	NM_015568.4:c.1194+4328_1194+4330del	NM_015568.4:c.1194+4329_1194+4330del	NM_015568.4:c.1194+4330del	NM_015568.4:c.1194+4330dup	NM_015568.4:c.1194+4329_1194+4330dup	NM_015568.4:c.1194+4328_1194+4330dup	NM_015568.4:c.1194+4327_1194+4330dup	NM_015568.4:c.1194+4326_1194+4330dup	NM_015568.4:c.1194+4325_1194+4330dup	NM_015568.4:c.1194+4324_1194+4330dup	NM_015568.4:c.1194+4323_1194+4330dup
PPP1R16B transcript variant X1	XM_011528768.4:c.1206+4311=	XM_011528768.4:c.1206+4321_1206+4330del	XM_011528768.4:c.1206+4322_1206+4330del	XM_011528768.4:c.1206+4323_1206+4330del	XM_011528768.4:c.1206+4325_1206+4330del	XM_011528768.4:c.1206+4326_1206+4330del	XM_011528768.4:c.1206+4327_1206+4330del	XM_011528768.4:c.1206+4328_1206+4330del	XM_011528768.4:c.1206+4329_1206+4330del	XM_011528768.4:c.1206+4330del	XM_011528768.4:c.1206+4330dup	XM_011528768.4:c.1206+4329_1206+4330dup	XM_011528768.4:c.1206+4328_1206+4330dup	XM_011528768.4:c.1206+4327_1206+4330dup	XM_011528768.4:c.1206+4326_1206+4330dup	XM_011528768.4:c.1206+4325_1206+4330dup	XM_011528768.4:c.1206+4324_1206+4330dup	XM_011528768.4:c.1206+4323_1206+4330dup
PPP1R16B transcript variant X2	XM_047440086.1:c.597+4311=	XM_047440086.1:c.597+4321_597+4330del	XM_047440086.1:c.597+4322_597+4330del	XM_047440086.1:c.597+4323_597+4330del	XM_047440086.1:c.597+4325_597+4330del	XM_047440086.1:c.597+4326_597+4330del	XM_047440086.1:c.597+4327_597+4330del	XM_047440086.1:c.597+4328_597+4330del	XM_047440086.1:c.597+4329_597+4330del	XM_047440086.1:c.597+4330del	XM_047440086.1:c.597+4330dup	XM_047440086.1:c.597+4329_597+4330dup	XM_047440086.1:c.597+4328_597+4330dup	XM_047440086.1:c.597+4327_597+4330dup	XM_047440086.1:c.597+4326_597+4330dup	XM_047440086.1:c.597+4325_597+4330dup	XM_047440086.1:c.597+4324_597+4330dup	XM_047440086.1:c.597+4323_597+4330dup

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#.

37 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss79755032	Dec 15, 2007 (129)
2	SWEGEN	ss3018175813	Nov 08, 2017 (151)
3	PACBIO	ss3793538609	Jul 13, 2019 (153)
4	EVA	ss3835669196	Apr 27, 2020 (154)
5	GNOMAD	ss4353324967	Apr 27, 2021 (155)
6	GNOMAD	ss4353324968	Apr 27, 2021 (155)
7	GNOMAD	ss4353324969	Apr 27, 2021 (155)
8	GNOMAD	ss4353324970	Apr 27, 2021 (155)
9	GNOMAD	ss4353324971	Apr 27, 2021 (155)
10	GNOMAD	ss4353324972	Apr 27, 2021 (155)
11	GNOMAD	ss4353324973	Apr 27, 2021 (155)
12	GNOMAD	ss4353324974	Apr 27, 2021 (155)
13	GNOMAD	ss4353324976	Apr 27, 2021 (155)
14	GNOMAD	ss4353324977	Apr 27, 2021 (155)
15	GNOMAD	ss4353324978	Apr 27, 2021 (155)
16	GNOMAD	ss4353324979	Apr 27, 2021 (155)
17	GNOMAD	ss4353324980	Apr 27, 2021 (155)
18	GNOMAD	ss4353324981	Apr 27, 2021 (155)
19	TOPMED	ss5088429001	Apr 27, 2021 (155)
20	TOMMO_GENOMICS	ss5229628288	Apr 27, 2021 (155)
21	TOMMO_GENOMICS	ss5229628289	Apr 27, 2021 (155)
22	TOMMO_GENOMICS	ss5229628290	Apr 27, 2021 (155)
23	1000G_HIGH_COVERAGE	ss5308781876	Oct 16, 2022 (156)
24	1000G_HIGH_COVERAGE	ss5308781877	Oct 16, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5308781878	Oct 16, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5308781879	Oct 16, 2022 (156)
27	1000G_HIGH_COVERAGE	ss5308781880	Oct 16, 2022 (156)
28	HUGCELL_USP	ss5501060555	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5501060556	Oct 16, 2022 (156)
30	HUGCELL_USP	ss5501060557	Oct 16, 2022 (156)
31	HUGCELL_USP	ss5501060558	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5501060559	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5789425154	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5789425155	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5789425156	Oct 16, 2022 (156)
36	EVA	ss5853137930	Oct 16, 2022 (156)
37	EVA	ss5923404591	Oct 16, 2022 (156)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 551722738 (NC_000020.11:38912503::A 14625/73824) Row 551722739 (NC_000020.11:38912503::AA 454/73950) Row 551722740 (NC_000020.11:38912503::AAA 31/73974)...	-	Apr 27, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 87597595 (NC_000020.10:37541146::A 2902/16686) Row 87597596 (NC_000020.10:37541146:A: 109/16686) Row 87597597 (NC_000020.10:37541146::AA 38/16686)	-	Apr 27, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 87597595 (NC_000020.10:37541146::A 2902/16686) Row 87597596 (NC_000020.10:37541146:A: 109/16686) Row 87597597 (NC_000020.10:37541146::AA 38/16686)	-	Apr 27, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 87597595 (NC_000020.10:37541146::A 2902/16686) Row 87597596 (NC_000020.10:37541146:A: 109/16686) Row 87597597 (NC_000020.10:37541146::AA 38/16686)	-	Apr 27, 2021 (155)
56	14KJPN Submission ignored due to conflicting rows: Row 123262258 (NC_000020.11:38912503::A 4609/27756) Row 123262259 (NC_000020.11:38912503:A: 188/27756) Row 123262260 (NC_000020.11:38912503::AA 59/27756)	-	Oct 16, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 123262258 (NC_000020.11:38912503::A 4609/27756) Row 123262259 (NC_000020.11:38912503:A: 188/27756) Row 123262260 (NC_000020.11:38912503::AA 59/27756)	-	Oct 16, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 123262258 (NC_000020.11:38912503::A 4609/27756) Row 123262259 (NC_000020.11:38912503:A: 188/27756) Row 123262260 (NC_000020.11:38912503::AA 59/27756)	-	Oct 16, 2022 (156)
59	TopMed	NC_000020.11 - 38912504	Apr 27, 2021 (155)
60	ALFA	NC_000020.11 - 38912504	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
4187447835	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4353324981	NC_000020.11:38912503:AAAAAAAAA:	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
4187447835	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
363537946, ss5088429001	NC_000020.11:38912503:AAAAAAAA:	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
4187447835	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4353324980	NC_000020.11:38912503:AAAAAA:	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4353324979	NC_000020.11:38912503:AAAAA:	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4353324978, ss5501060559	NC_000020.11:38912503:AAAA:	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
4187447835	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4353324977	NC_000020.11:38912503:AAA:	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
4187447835	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4353324976, ss5308781880, ss5501060558	NC_000020.11:38912503:AA:	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4187447835	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss79755032	NC_000020.9:36974579:A:	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3018175813, ss3793538609, ss5229628289	NC_000020.10:37541146:A:	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5308781877, ss5501060555, ss5789425155, ss5923404591	NC_000020.11:38912503:A:	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
4187447835	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3835669196, ss5229628288	NC_000020.10:37541146::A	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4353324967, ss5308781876, ss5501060556, ss5789425154, ss5853137930	NC_000020.11:38912503::A	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
4187447835	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5229628290	NC_000020.10:37541146::AA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4353324968, ss5308781878, ss5501060557, ss5789425156	NC_000020.11:38912503::AA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
4187447835	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4353324969, ss5308781879	NC_000020.11:38912503::AAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
4187447835	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4353324970	NC_000020.11:38912503::AAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
4187447835	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4353324971	NC_000020.11:38912503::AAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4187447835	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4353324972	NC_000020.11:38912503::AAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4353324973	NC_000020.11:38912503::AAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4353324974	NC_000020.11:38912503::AAAAAAAA	NC_000020.11:38912503:AAAAAAAAAAAA… NC_000020.11:38912503:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs58456397

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

rs58456397