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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 Aliases 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.

rs73390944

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr22:29696706 (GRCh38.p12) 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
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.14272 (17921/125568, TOPMED)
G=0.1508 (4687/31090, GnomAD)
G=0.145 (727/5008, 1000G) (+ 5 more)
G=0.157 (705/4480, Estonian)
G=0.130 (500/3854, ALSPAC)
G=0.129 (477/3708, TWINSUK)
G=0.13 (77/600, NorthernSweden)
G=0.10 (22/212, Vietnamese)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NF2 : Non Coding Transcript Variant
Publications
0 citations
Genomic View
See rs on genome
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.p12 chr 22 NC_000022.11:g.29696706A>C
GRCh38.p12 chr 22 NC_000022.11:g.29696706A>G
GRCh37.p13 chr 22 NC_000022.10:g.30092695A>C
GRCh37.p13 chr 22 NC_000022.10:g.30092695A>G
NF2 RefSeqGene (LRG_511) NG_009057.1:g.98151A>C
NF2 RefSeqGene (LRG_511) NG_009057.1:g.98151A>G
Gene: NF2, neurofibromin 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NF2 transcript variant 1 NM_000268.3:c.*1904= N/A 3 Prime UTR Variant
NF2 transcript variant 2 NM_016418.5:c.*1964= N/A 3 Prime UTR Variant
NF2 transcript variant 9 NM_181833.2:c.*1904= N/A 3 Prime UTR Variant
NF2 transcript variant 6 NM_181829.3:c.*1964= N/A 3 Prime UTR Variant
NF2 transcript variant 8 NM_181832.3:c.*1979= N/A 3 Prime UTR Variant
NF2 transcript variant 5 NM_181828.3:c.*1964= N/A 3 Prime UTR Variant
NF2 transcript variant 7 NM_181830.3:c.*1964= N/A 3 Prime UTR Variant
NF2 transcript variant 12 NM_181825.3:c. N/A Genic Downstream Transcript Variant
NF2 transcript variant 13 NM_181831.3:c. N/A Genic Downstream Transcript Variant
NF2 transcript variant 14 NR_156186.1:n.4251A>C N/A Non Coding Transcript Variant
NF2 transcript variant 14 NR_156186.1:n.4251A>G N/A Non Coding Transcript Variant
NF2 transcript variant X2 XM_017028810.1:c.*1964= N/A 3 Prime UTR Variant
NF2 transcript variant X1 XM_017028809.2:c. N/A Genic Downstream Transcript 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: G (allele ID: 352361 )
ClinVar Accession Disease Names Clinical Significance
RCV000334760.1 Neurofibromatosis, type 2 Benign
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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 A=0.85727 C=0.00001, G=0.14272
gnomAD - Genomes Global Study-wide 31090 A=0.8492 G=0.1508
gnomAD - Genomes European Sub 18676 A=0.8604 G=0.1396
gnomAD - Genomes African Sub 8648 A=0.807 G=0.193
gnomAD - Genomes East Asian Sub 1556 A=0.933 G=0.067
gnomAD - Genomes Other Sub 1080 A=0.859 G=0.141
gnomAD - Genomes American Sub 842 A=0.85 G=0.15
gnomAD - Genomes Ashkenazi Jewish Sub 288 A=0.92 G=0.08
1000Genomes Global Study-wide 5008 A=0.855 G=0.145
1000Genomes African Sub 1322 A=0.780 G=0.220
1000Genomes East Asian Sub 1008 A=0.938 G=0.062
1000Genomes Europe Sub 1006 A=0.898 G=0.102
1000Genomes South Asian Sub 978 A=0.82 G=0.18
1000Genomes American Sub 694 A=0.87 G=0.13
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.843 G=0.157
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.870 G=0.130
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.871 G=0.129
Northern Sweden ACPOP Study-wide 600 A=0.87 G=0.13
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.90 G=0.10
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 A= C G Note
GRCh38.p12 chr 22 NC_000022.11:g.29...

NC_000022.11:g.29696706=

NC_000022.11:g.29...

NC_000022.11:g.29696706A>C

NC_000022.11:g.29...

NC_000022.11:g.29696706A>G

GRCh37.p13 chr 22 NC_000022.10:g.30...

NC_000022.10:g.30092695=

NC_000022.10:g.30...

NC_000022.10:g.30092695A>C

NC_000022.10:g.30...

NC_000022.10:g.30092695A>G

NF2 RefSeqGene (LRG_511) NG_009057.1:g.98151= NG_009057.1:g.981...

NG_009057.1:g.98151A>C

NG_009057.1:g.981...

NG_009057.1:g.98151A>G

NF2 transcript variant 2 NM_016418.5:c.*1964= NM_016418.5:c.*19...

NM_016418.5:c.*1964A>C

NM_016418.5:c.*19...

NM_016418.5:c.*1964A>G

NF2 transcript variant 1 NM_000268.3:c.*1904= NM_000268.3:c.*19...

NM_000268.3:c.*1904A>C

NM_000268.3:c.*19...

NM_000268.3:c.*1904A>G

NF2 transcript variant 8 NM_181832.3:c.*1979= NM_181832.3:c.*19...

NM_181832.3:c.*1979A>C

NM_181832.3:c.*19...

NM_181832.3:c.*1979A>G

NF2 transcript variant 8 NM_181832.2:c.*1979= NM_181832.2:c.*19...

NM_181832.2:c.*1979A>C

NM_181832.2:c.*19...

NM_181832.2:c.*1979A>G

NF2 transcript variant 6 NM_181829.3:c.*1964= NM_181829.3:c.*19...

NM_181829.3:c.*1964A>C

NM_181829.3:c.*19...

NM_181829.3:c.*1964A>G

NF2 transcript variant 6 NM_181829.2:c.*1964= NM_181829.2:c.*19...

NM_181829.2:c.*1964A>C

NM_181829.2:c.*19...

NM_181829.2:c.*1964A>G

NF2 transcript variant 5 NM_181828.3:c.*1964= NM_181828.3:c.*19...

NM_181828.3:c.*1964A>C

NM_181828.3:c.*19...

NM_181828.3:c.*1964A>G

NF2 transcript variant 5 NM_181828.2:c.*1964= NM_181828.2:c.*19...

NM_181828.2:c.*1964A>C

NM_181828.2:c.*19...

NM_181828.2:c.*1964A>G

NF2 transcript variant 7 NM_181830.3:c.*1964= NM_181830.3:c.*19...

NM_181830.3:c.*1964A>C

NM_181830.3:c.*19...

NM_181830.3:c.*1964A>G

NF2 transcript variant 7 NM_181830.2:c.*1964= NM_181830.2:c.*19...

NM_181830.2:c.*1964A>C

NM_181830.2:c.*19...

NM_181830.2:c.*1964A>G

NF2 transcript variant 9 NM_181833.2:c.*1904= NM_181833.2:c.*19...

NM_181833.2:c.*1904A>C

NM_181833.2:c.*19...

NM_181833.2:c.*1904A>G

NF2 transcript variant 14 NR_156186.1:n.4251= NR_156186.1:n.425...

NR_156186.1:n.4251A>C

NR_156186.1:n.425...

NR_156186.1:n.4251A>G

NF2 transcript variant X2 XM_017028810.1:c....

XM_017028810.1:c.*1964=

XM_017028810.1:c....

XM_017028810.1:c.*1964A>C

XM_017028810.1:c....

XM_017028810.1:c.*1964A>G

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#.

43 SubSNP, 8 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss114130694 Feb 14, 2009 (130)
2 COMPLETE_GENOMICS ss169089392 Jul 04, 2010 (132)
3 COMPLETE_GENOMICS ss171913599 Jul 04, 2010 (132)
4 1000GENOMES ss228654923 Jul 14, 2010 (132)
5 1000GENOMES ss238049785 Jul 15, 2010 (132)
6 1000GENOMES ss244173493 Jul 15, 2010 (132)
7 BL ss255877144 May 09, 2011 (134)
8 ILLUMINA ss483576649 May 04, 2012 (137)
9 ILLUMINA ss484301328 May 04, 2012 (137)
10 SSMP ss662537823 Apr 25, 2013 (138)
11 ILLUMINA ss782231768 Aug 21, 2014 (142)
12 EVA-GONL ss995299595 Aug 21, 2014 (142)
13 JMKIDD_LAB ss1082621861 Aug 21, 2014 (142)
14 1000GENOMES ss1366974338 Aug 21, 2014 (142)
15 DDI ss1429242422 Apr 01, 2015 (144)
16 EVA_GENOME_DK ss1579732534 Apr 01, 2015 (144)
17 EVA_UK10K_ALSPAC ss1639891824 Apr 01, 2015 (144)
18 EVA_UK10K_TWINSUK ss1682885857 Apr 01, 2015 (144)
19 EVA_DECODE ss1699368690 Apr 01, 2015 (144)
20 HAMMER_LAB ss1809766909 Sep 08, 2015 (146)
21 WEILL_CORNELL_DGM ss1938865871 Feb 12, 2016 (147)
22 GENOMED ss1969262390 Jul 19, 2016 (147)
23 JJLAB ss2030204610 Sep 14, 2016 (149)
24 ILLUMINA ss2094922391 Dec 20, 2016 (150)
25 ILLUMINA ss2095121849 Dec 20, 2016 (150)
26 USC_VALOUEV ss2158820661 Dec 20, 2016 (150)
27 HUMAN_LONGEVITY ss2246942181 Dec 20, 2016 (150)
28 TOPMED ss2413882769 Dec 20, 2016 (150)
29 GNOMAD ss2973843711 Nov 08, 2017 (151)
30 SWEGEN ss3019223633 Nov 08, 2017 (151)
31 BIOINF_KMB_FNS_UNIBA ss3028939902 Nov 08, 2017 (151)
32 CSHL ss3352814182 Nov 08, 2017 (151)
33 TOPMED ss3375938766 Nov 08, 2017 (151)
34 TOPMED ss3375938767 Nov 08, 2017 (151)
35 ILLUMINA ss3652642950 Oct 12, 2018 (152)
36 EGCUT_WGS ss3685720328 Jul 13, 2019 (153)
37 EVA_DECODE ss3708101072 Jul 13, 2019 (153)
38 ACPOP ss3743889673 Jul 13, 2019 (153)
39 EVA ss3759322307 Jul 13, 2019 (153)
40 PACBIO ss3788815096 Jul 13, 2019 (153)
41 PACBIO ss3793683086 Jul 13, 2019 (153)
42 PACBIO ss3798569531 Jul 13, 2019 (153)
43 KHV_HUMAN_GENOMES ss3822487356 Jul 13, 2019 (153)
44 1000Genomes NC_000022.10 - 30092695 Oct 12, 2018 (152)
45 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 30092695 Oct 12, 2018 (152)
46 Genetic variation in the Estonian population NC_000022.10 - 30092695 Oct 12, 2018 (152)
47 gnomAD - Genomes NC_000022.10 - 30092695 Jul 13, 2019 (153)
48 Northern Sweden NC_000022.10 - 30092695 Jul 13, 2019 (153)
49 TopMed NC_000022.11 - 29696706 Oct 12, 2018 (152)
50 UK 10K study - Twins NC_000022.10 - 30092695 Oct 12, 2018 (152)
51 A Vietnamese Genetic Variation Database NC_000022.10 - 30092695 Jul 13, 2019 (153)
52 ClinVar RCV000334760.1 Oct 12, 2018 (152)
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
238998636, ss3375938766 NC_000022.11:29696705:A:C NC_000022.11:29696705:A:C (self)
ss114130694, ss169089392, ss171913599, ss255877144, ss484301328, ss1699368690, ss2094922391 NC_000022.9:28422694:A:G NC_000022.11:29696705:A:G (self)
80519248, 44535267, 31458576, 219628462, 17174538, 44535267, 9826762, ss228654923, ss238049785, ss244173493, ss483576649, ss662537823, ss782231768, ss995299595, ss1082621861, ss1366974338, ss1429242422, ss1579732534, ss1639891824, ss1682885857, ss1809766909, ss1938865871, ss1969262390, ss2030204610, ss2095121849, ss2158820661, ss2413882769, ss2973843711, ss3019223633, ss3352814182, ss3652642950, ss3685720328, ss3743889673, ss3759322307, ss3788815096, ss3793683086, ss3798569531 NC_000022.10:30092694:A:G NC_000022.11:29696705:A:G (self)
RCV000334760.1, 238998636, ss2246942181, ss3028939902, ss3375938767, ss3708101072, ss3822487356 NC_000022.11:29696705:A:G NC_000022.11:29696705:A:G (self)
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 rs73390944

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.post308+0fe9b3b