Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

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.

rs199669486

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:29681503 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000060 (16/264690, TOPMED)
A=0.000255 (64/251454, GnomAD_exome)
A=0.000218 (40/183602, ALFA) (+ 7 more)
A=0.000185 (26/140202, GnomAD)
A=0.000256 (31/121260, ExAC)
A=0.00006 (5/78696, PAGE_STUDY)
A=0.00023 (3/13006, GO-ESP)
A=0.0002 (1/4480, Estonian)
A=0.001 (1/792, PRJEB37584)
A=0.002 (1/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NF2 : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 200010 G=0.999795 A=0.000205
European Sub 172348 G=0.999774 A=0.000226
African Sub 9198 G=1.0000 A=0.0000
African Others Sub 352 G=1.000 A=0.000
African American Sub 8846 G=1.0000 A=0.0000
Asian Sub 3338 G=1.0000 A=0.0000
East Asian Sub 2686 G=1.0000 A=0.0000
Other Asian Sub 652 G=1.000 A=0.000
Latin American 1 Sub 796 G=1.000 A=0.000
Latin American 2 Sub 968 G=1.000 A=0.000
South Asian Sub 280 G=1.000 A=0.000
Other Sub 13082 G=0.99985 A=0.00015


Help

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 G=0.999940 A=0.000060
gnomAD - Exomes Global Study-wide 251454 G=0.999745 A=0.000255
gnomAD - Exomes European Sub 135384 G=0.999527 A=0.000473
gnomAD - Exomes Asian Sub 49010 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34590 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16252 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6138 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 183602 G=0.999782 A=0.000218
Allele Frequency Aggregator European Sub 162212 G=0.999766 A=0.000234
Allele Frequency Aggregator Other Sub 11648 G=0.99983 A=0.00017
Allele Frequency Aggregator African Sub 4360 G=1.0000 A=0.0000
Allele Frequency Aggregator Asian Sub 3338 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 968 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 796 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 280 G=1.000 A=0.000
gnomAD - Genomes Global Study-wide 140202 G=0.999815 A=0.000185
gnomAD - Genomes European Sub 75934 G=0.99966 A=0.00034
gnomAD - Genomes African Sub 42006 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13658 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=1.0000 A=0.0000
ExAC Global Study-wide 121260 G=0.999744 A=0.000256
ExAC Europe Sub 73276 G=0.99959 A=0.00041
ExAC Asian Sub 25140 G=1.00000 A=0.00000
ExAC American Sub 11562 G=0.99991 A=0.00009
ExAC African Sub 10374 G=1.00000 A=0.00000
ExAC Other Sub 908 G=1.000 A=0.000
The PAGE Study Global Study-wide 78696 G=0.99994 A=0.00006
The PAGE Study AfricanAmerican Sub 32514 G=0.99997 A=0.00003
The PAGE Study Mexican Sub 10810 G=0.99981 A=0.00019
The PAGE Study Asian Sub 8316 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7916 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4534 G=0.9998 A=0.0002
The PAGE Study Cuban Sub 4230 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 G=0.9997 A=0.0003
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.99977 A=0.00023
GO Exome Sequencing Project European American Sub 8600 G=0.9997 A=0.0003
GO Exome Sequencing Project African American Sub 4406 G=1.0000 A=0.0000
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9998 A=0.0002
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.999 A=0.001
CNV burdens in cranial meningiomas CRM Sub 792 G=0.999 A=0.001
Northern Sweden ACPOP Study-wide 600 G=0.998 A=0.002
Help

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 22 NC_000022.11:g.29681503G>A
GRCh38.p14 chr 22 NC_000022.11:g.29681503G>C
GRCh37.p13 chr 22 NC_000022.10:g.30077492G>A
GRCh37.p13 chr 22 NC_000022.10:g.30077492G>C
MERLIN RefSeqGene (LRG_511) NG_009057.1:g.82948G>A
MERLIN RefSeqGene (LRG_511) NG_009057.1:g.82948G>C
Gene: NF2, NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NF2 transcript variant 9 NM_181833.3:c.448-13249G>A N/A Intron Variant
NF2 transcript variant 2 NM_016418.5:c.1639G>A E [GAG] > K [AAG] Coding Sequence Variant
merlin isoform 2 NP_057502.2:p.Glu547Lys E (Glu) > K (Lys) Missense Variant
NF2 transcript variant 2 NM_016418.5:c.1639G>C E [GAG] > Q [CAG] Coding Sequence Variant
merlin isoform 2 NP_057502.2:p.Glu547Gln E (Glu) > Q (Gln) Missense Variant
NF2 transcript variant 6 NM_181829.3:c.1516G>A E [GAG] > K [AAG] Coding Sequence Variant
merlin isoform 6 NP_861967.1:p.Glu506Lys E (Glu) > K (Lys) Missense Variant
NF2 transcript variant 6 NM_181829.3:c.1516G>C E [GAG] > Q [CAG] Coding Sequence Variant
merlin isoform 6 NP_861967.1:p.Glu506Gln E (Glu) > Q (Gln) Missense Variant
NF2 transcript variant 8 NM_181832.3:c.1639G>A E [GAG] > K [AAG] Coding Sequence Variant
merlin isoform 2 NP_861970.1:p.Glu547Lys E (Glu) > K (Lys) Missense Variant
NF2 transcript variant 8 NM_181832.3:c.1639G>C E [GAG] > Q [CAG] Coding Sequence Variant
merlin isoform 2 NP_861970.1:p.Glu547Gln E (Glu) > Q (Gln) Missense Variant
NF2 transcript variant 12 NM_181825.3:c.1639G>A E [GAG] > K [AAG] Coding Sequence Variant
merlin isoform 2 NP_861546.1:p.Glu547Lys E (Glu) > K (Lys) Missense Variant
NF2 transcript variant 12 NM_181825.3:c.1639G>C E [GAG] > Q [CAG] Coding Sequence Variant
merlin isoform 2 NP_861546.1:p.Glu547Gln E (Glu) > Q (Gln) Missense Variant
NF2 transcript variant 5 NM_181828.3:c.1513G>A E [GAG] > K [AAG] Coding Sequence Variant
merlin isoform 5 NP_861966.1:p.Glu505Lys E (Glu) > K (Lys) Missense Variant
NF2 transcript variant 5 NM_181828.3:c.1513G>C E [GAG] > Q [CAG] Coding Sequence Variant
merlin isoform 5 NP_861966.1:p.Glu505Gln E (Glu) > Q (Gln) Missense Variant
NF2 transcript variant 7 NM_181830.3:c.1390G>A E [GAG] > K [AAG] Coding Sequence Variant
merlin isoform 7 NP_861968.1:p.Glu464Lys E (Glu) > K (Lys) Missense Variant
NF2 transcript variant 7 NM_181830.3:c.1390G>C E [GAG] > Q [CAG] Coding Sequence Variant
merlin isoform 7 NP_861968.1:p.Glu464Gln E (Glu) > Q (Gln) Missense Variant
NF2 transcript variant 13 NM_181831.3:c.1390G>A E [GAG] > K [AAG] Coding Sequence Variant
merlin isoform 7 NP_861969.1:p.Glu464Lys E (Glu) > K (Lys) Missense Variant
NF2 transcript variant 13 NM_181831.3:c.1390G>C E [GAG] > Q [CAG] Coding Sequence Variant
merlin isoform 7 NP_861969.1:p.Glu464Gln E (Glu) > Q (Gln) Missense Variant
NF2 transcript variant 1 NM_000268.4:c.1639G>A E [GAG] > K [AAG] Coding Sequence Variant
merlin isoform 1 NP_000259.1:p.Glu547Lys E (Glu) > K (Lys) Missense Variant
NF2 transcript variant 1 NM_000268.4:c.1639G>C E [GAG] > Q [CAG] Coding Sequence Variant
merlin isoform 1 NP_000259.1:p.Glu547Gln E (Glu) > Q (Gln) Missense Variant
NF2 transcript variant 14 NR_156186.2:n.2121G>A N/A Non Coding Transcript Variant
NF2 transcript variant 14 NR_156186.2:n.2121G>C N/A Non Coding Transcript Variant
NF2 transcript variant X1 XM_017028809.3:c.1525G>A E [GAG] > K [AAG] Coding Sequence Variant
merlin isoform X1 XP_016884298.1:p.Glu509Lys E (Glu) > K (Lys) Missense Variant
NF2 transcript variant X1 XM_017028809.3:c.1525G>C E [GAG] > Q [CAG] Coding Sequence Variant
merlin isoform X1 XP_016884298.1:p.Glu509Gln E (Glu) > Q (Gln) Missense Variant
NF2 transcript variant X2 XM_047441386.1:c.1525G>A E [GAG] > K [AAG] Coding Sequence Variant
merlin isoform X2 XP_047297342.1:p.Glu509Lys E (Glu) > K (Lys) Missense Variant
NF2 transcript variant X2 XM_047441386.1:c.1525G>C E [GAG] > Q [CAG] Coding Sequence Variant
merlin isoform X2 XP_047297342.1:p.Glu509Gln E (Glu) > Q (Gln) Missense Variant
Help

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.

Allele: A (allele ID: 471053 )
ClinVar Accession Disease Names Clinical Significance
RCV000547087.12 Neurofibromatosis, type 2 Conflicting-Interpretations-Of-Pathogenicity
RCV000573923.2 Hereditary cancer-predisposing syndrome Likely-Benign
Help

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 G= A C
GRCh38.p14 chr 22 NC_000022.11:g.29681503= NC_000022.11:g.29681503G>A NC_000022.11:g.29681503G>C
GRCh37.p13 chr 22 NC_000022.10:g.30077492= NC_000022.10:g.30077492G>A NC_000022.10:g.30077492G>C
MERLIN RefSeqGene (LRG_511) NG_009057.1:g.82948= NG_009057.1:g.82948G>A NG_009057.1:g.82948G>C
NF2 transcript variant 2 NM_016418.5:c.1639= NM_016418.5:c.1639G>A NM_016418.5:c.1639G>C
NF2 transcript variant 1 NM_000268.4:c.1639= NM_000268.4:c.1639G>A NM_000268.4:c.1639G>C
NF2 transcript variant 1 NM_000268.3:c.1639= NM_000268.3:c.1639G>A NM_000268.3:c.1639G>C
NF2 transcript variant 8 NM_181832.3:c.1639= NM_181832.3:c.1639G>A NM_181832.3:c.1639G>C
NF2 transcript variant 8 NM_181832.2:c.1639= NM_181832.2:c.1639G>A NM_181832.2:c.1639G>C
NF2 transcript variant 6 NM_181829.3:c.1516= NM_181829.3:c.1516G>A NM_181829.3:c.1516G>C
NF2 transcript variant 6 NM_181829.2:c.1516= NM_181829.2:c.1516G>A NM_181829.2:c.1516G>C
NF2 transcript variant 5 NM_181828.3:c.1513= NM_181828.3:c.1513G>A NM_181828.3:c.1513G>C
NF2 transcript variant 5 NM_181828.2:c.1513= NM_181828.2:c.1513G>A NM_181828.2:c.1513G>C
NF2 transcript variant 7 NM_181830.3:c.1390= NM_181830.3:c.1390G>A NM_181830.3:c.1390G>C
NF2 transcript variant 7 NM_181830.2:c.1390= NM_181830.2:c.1390G>A NM_181830.2:c.1390G>C
NF2 transcript variant 12 NM_181825.3:c.1639= NM_181825.3:c.1639G>A NM_181825.3:c.1639G>C
NF2 transcript variant 12 NM_181825.2:c.1639= NM_181825.2:c.1639G>A NM_181825.2:c.1639G>C
NF2 transcript variant 13 NM_181831.3:c.1390= NM_181831.3:c.1390G>A NM_181831.3:c.1390G>C
NF2 transcript variant 13 NM_181831.2:c.1390= NM_181831.2:c.1390G>A NM_181831.2:c.1390G>C
NF2 transcript variant 18 NM_001407056.1:c.1525= NM_001407056.1:c.1525G>A NM_001407056.1:c.1525G>C
NF2 transcript variant 27 NM_001407065.1:c.1105= NM_001407065.1:c.1105G>A NM_001407065.1:c.1105G>C
NF2 transcript variant 14 NM_001407053.1:c.1525= NM_001407053.1:c.1525G>A NM_001407053.1:c.1525G>C
NF2 transcript variant 23 NM_001407067.1:c.1408= NM_001407067.1:c.1408G>A NM_001407067.1:c.1408G>C
NF2 transcript variant 20 NM_001407058.1:c.1516= NM_001407058.1:c.1516G>A NM_001407058.1:c.1516G>C
NF2 transcript variant 21 NM_001407059.1:c.1504= NM_001407059.1:c.1504G>A NM_001407059.1:c.1504G>C
NF2 transcript variant 16 NM_001407054.1:c.1516= NM_001407054.1:c.1516G>A NM_001407054.1:c.1516G>C
NF2 transcript variant 17 NM_001407055.1:c.1513= NM_001407055.1:c.1513G>A NM_001407055.1:c.1513G>C
NF2 transcript variant 19 NM_001407057.1:c.1504= NM_001407057.1:c.1504G>A NM_001407057.1:c.1504G>C
NF2 transcript variant 25 NM_001407063.1:c.1390= NM_001407063.1:c.1390G>A NM_001407063.1:c.1390G>C
NF2 transcript variant 24 NM_001407062.1:c.1381= NM_001407062.1:c.1381G>A NM_001407062.1:c.1381G>C
NF2 transcript variant 15 NM_001407066.1:c.1639= NM_001407066.1:c.1639G>A NM_001407066.1:c.1639G>C
NF2 transcript variant X1 XM_017028809.3:c.1525= XM_017028809.3:c.1525G>A XM_017028809.3:c.1525G>C
NF2 transcript variant X1 XM_017028809.2:c.1525= XM_017028809.2:c.1525G>A XM_017028809.2:c.1525G>C
NF2 transcript variant X1 XM_017028809.1:c.1525= XM_017028809.1:c.1525G>A XM_017028809.1:c.1525G>C
NF2 transcript variant 14 NR_156186.2:n.2121= NR_156186.2:n.2121G>A NR_156186.2:n.2121G>C
NF2 transcript variant 3 NM_181826.1:c.*1521= NM_181826.1:c.*1521G>A NM_181826.1:c.*1521G>C
NF2 transcript variant 14 NR_156186.1:n.2198= NR_156186.1:n.2198G>A NR_156186.1:n.2198G>C
NF2 transcript variant 4 NM_181827.1:c.*1385= NM_181827.1:c.*1385G>A NM_181827.1:c.*1385G>C
NF2 transcript variant X2 XM_047441386.1:c.1525= XM_047441386.1:c.1525G>A XM_047441386.1:c.1525G>C
merlin isoform 2 NP_057502.2:p.Glu547= NP_057502.2:p.Glu547Lys NP_057502.2:p.Glu547Gln
merlin isoform 1 NP_000259.1:p.Glu547= NP_000259.1:p.Glu547Lys NP_000259.1:p.Glu547Gln
merlin isoform 2 NP_861970.1:p.Glu547= NP_861970.1:p.Glu547Lys NP_861970.1:p.Glu547Gln
merlin isoform 6 NP_861967.1:p.Glu506= NP_861967.1:p.Glu506Lys NP_861967.1:p.Glu506Gln
merlin isoform 5 NP_861966.1:p.Glu505= NP_861966.1:p.Glu505Lys NP_861966.1:p.Glu505Gln
merlin isoform 7 NP_861968.1:p.Glu464= NP_861968.1:p.Glu464Lys NP_861968.1:p.Glu464Gln
merlin isoform 2 NP_861546.1:p.Glu547= NP_861546.1:p.Glu547Lys NP_861546.1:p.Glu547Gln
merlin isoform 7 NP_861969.1:p.Glu464= NP_861969.1:p.Glu464Lys NP_861969.1:p.Glu464Gln
merlin isoform X1 XP_016884298.1:p.Glu509= XP_016884298.1:p.Glu509Lys XP_016884298.1:p.Glu509Gln
merlin isoform X2 XP_047297342.1:p.Glu509= XP_047297342.1:p.Glu509Lys XP_047297342.1:p.Glu509Gln
NF2 transcript variant 9 NM_181833.2:c.448-13249= NM_181833.2:c.448-13249G>A NM_181833.2:c.448-13249G>C
NF2 transcript variant 9 NM_181833.3:c.448-13249= NM_181833.3:c.448-13249G>A NM_181833.3:c.448-13249G>C
Help

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#.

33 SubSNP, 10 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EXOME_CHIP ss491570075 May 04, 2012 (137)
2 NHLBI-ESP ss713618106 Apr 25, 2013 (138)
3 ILLUMINA ss780761364 Sep 08, 2015 (146)
4 ILLUMINA ss783440348 Sep 08, 2015 (146)
5 EVA_EXAC ss1694295434 Apr 01, 2015 (144)
6 ILLUMINA ss1752417947 Sep 08, 2015 (146)
7 ILLUMINA ss1917954653 Feb 12, 2016 (147)
8 ILLUMINA ss1946585043 Feb 12, 2016 (147)
9 ILLUMINA ss1959974111 Feb 12, 2016 (147)
10 HUMAN_LONGEVITY ss2246941348 Dec 20, 2016 (150)
11 GNOMAD ss2745062244 Nov 08, 2017 (151)
12 GNOMAD ss2750532001 Nov 08, 2017 (151)
13 GNOMAD ss2973842633 Nov 08, 2017 (151)
14 ILLUMINA ss3022180640 Nov 08, 2017 (151)
15 ILLUMINA ss3628522286 Oct 12, 2018 (152)
16 ILLUMINA ss3634864970 Oct 12, 2018 (152)
17 ILLUMINA ss3640572273 Oct 12, 2018 (152)
18 ILLUMINA ss3644798640 Oct 12, 2018 (152)
19 ILLUMINA ss3652642911 Oct 12, 2018 (152)
20 EGCUT_WGS ss3685720171 Jul 13, 2019 (153)
21 ILLUMINA ss3725963843 Jul 13, 2019 (153)
22 ACPOP ss3743889619 Jul 13, 2019 (153)
23 ILLUMINA ss3744501760 Jul 13, 2019 (153)
24 ILLUMINA ss3745164826 Jul 13, 2019 (153)
25 PAGE_CC ss3772087519 Jul 13, 2019 (153)
26 ILLUMINA ss3772660757 Jul 13, 2019 (153)
27 EVA ss3825436670 Apr 27, 2020 (154)
28 EVA ss3825968560 Apr 27, 2020 (154)
29 EVA ss3984759594 Apr 27, 2021 (155)
30 TOPMED ss5107542549 Apr 27, 2021 (155)
31 EVA ss5847942316 Oct 16, 2022 (156)
32 EVA ss5936457155 Oct 16, 2022 (156)
33 EVA ss5959251356 Oct 16, 2022 (156)
34 Genetic variation in the Estonian population NC_000022.10 - 30077492 Oct 12, 2018 (152)
35 ExAC NC_000022.10 - 30077492 Oct 12, 2018 (152)
36 gnomAD - Genomes NC_000022.11 - 29681503 Apr 27, 2021 (155)
37 gnomAD - Exomes NC_000022.10 - 30077492 Jul 13, 2019 (153)
38 GO Exome Sequencing Project NC_000022.10 - 30077492 Oct 12, 2018 (152)
39 Northern Sweden NC_000022.10 - 30077492 Jul 13, 2019 (153)
40 The PAGE Study NC_000022.11 - 29681503 Jul 13, 2019 (153)
41 CNV burdens in cranial meningiomas NC_000022.10 - 30077492 Apr 27, 2021 (155)
42 TopMed NC_000022.11 - 29681503 Apr 27, 2021 (155)
43 ALFA NC_000022.11 - 29681503 Apr 27, 2021 (155)
44 ClinVar RCV000547087.12 Oct 16, 2022 (156)
45 ClinVar RCV000573923.2 Apr 27, 2021 (155)
Help

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
31458419, 5872774, 14392214, 1893504, 17174484, 309178, ss491570075, ss713618106, ss780761364, ss783440348, ss1694295434, ss1752417947, ss1917954653, ss1946585043, ss1959974111, ss2745062244, ss2750532001, ss2973842633, ss3022180640, ss3628522286, ss3634864970, ss3640572273, ss3644798640, ss3652642911, ss3685720171, ss3743889619, ss3744501760, ss3745164826, ss3772660757, ss3825436670, ss3825968560, ss3984759594, ss5847942316, ss5936457155, ss5959251356 NC_000022.10:30077491:G:A NC_000022.11:29681502:G:A (self)
RCV000547087.12, RCV000573923.2, 568594808, 1308988, 382651496, 4523003623, ss2246941348, ss3725963843, ss3772087519, ss5107542549 NC_000022.11:29681502:G:A NC_000022.11:29681502:G:A (self)
ss5936457155 NC_000022.10:30077491:G:C NC_000022.11:29681502:G:C
Help

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

No publications for rs199669486

Help

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.

Software version is: 2.0.1.post761+d5e8e07