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.

rs193922145

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:50191457 (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
C=0.000004 (1/264690, TOPMED)
C=0.00000 (0/10680, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
COL1A1 : Stop Gained
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 10680 G=1.00000 C=0.00000
European Sub 6962 G=1.0000 C=0.0000
African Sub 2294 G=1.0000 C=0.0000
African Others Sub 84 G=1.00 C=0.00
African American Sub 2210 G=1.0000 C=0.0000
Asian Sub 108 G=1.000 C=0.000
East Asian Sub 84 G=1.00 C=0.00
Other Asian Sub 24 G=1.00 C=0.00
Latin American 1 Sub 146 G=1.000 C=0.000
Latin American 2 Sub 610 G=1.000 C=0.000
South Asian Sub 94 G=1.00 C=0.00
Other Sub 466 G=1.000 C=0.000


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=0.999996 C=0.000004
Allele Frequency Aggregator Total Global 10680 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 C=0.00
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 17 NC_000017.11:g.50191457G>A
GRCh38.p14 chr 17 NC_000017.11:g.50191457G>C
GRCh37.p13 chr 17 NC_000017.10:g.48268818G>A
GRCh37.p13 chr 17 NC_000017.10:g.48268818G>C
COL1A1 RefSeqGene (LRG_1) NG_007400.1:g.15183C>T
COL1A1 RefSeqGene (LRG_1) NG_007400.1:g.15183C>G
Gene: COL1A1, collagen type I alpha 1 chain (minus strand)
Molecule type Change Amino acid[Codon] SO Term
COL1A1 transcript NM_000088.4:c.2161C>T Q [CAG] > * [TAG] Coding Sequence Variant
collagen alpha-1(I) chain preproprotein NP_000079.2:p.Gln721Ter Q (Gln) > * (Ter) Stop Gained
COL1A1 transcript NM_000088.4:c.2161C>G Q [CAG] > E [GAG] Coding Sequence Variant
collagen alpha-1(I) chain preproprotein NP_000079.2:p.Gln721Glu Q (Gln) > E (Glu) Missense Variant
COL1A1 transcript variant X1 XM_011524341.2:c.1963C>T Q [CAG] > * [TAG] Coding Sequence Variant
collagen alpha-1(I) chain isoform X1 XP_011522643.1:p.Gln655Ter Q (Gln) > * (Ter) Stop Gained
COL1A1 transcript variant X1 XM_011524341.2:c.1963C>G Q [CAG] > E [GAG] Coding Sequence Variant
collagen alpha-1(I) chain isoform X1 XP_011522643.1:p.Gln655Glu Q (Gln) > E (Glu) Missense Variant
COL1A1 transcript variant X2 XM_005257058.5:c.2161C>T Q [CAG] > * [TAG] Coding Sequence Variant
collagen alpha-1(I) chain isoform X2 XP_005257115.2:p.Gln721Ter Q (Gln) > * (Ter) Stop Gained
COL1A1 transcript variant X2 XM_005257058.5:c.2161C>G Q [CAG] > E [GAG] Coding Sequence Variant
collagen alpha-1(I) chain isoform X2 XP_005257115.2:p.Gln721Glu Q (Gln) > E (Glu) Missense Variant
COL1A1 transcript variant X3 XM_005257059.5:c.1243C>T Q [CAG] > * [TAG] Coding Sequence Variant
collagen alpha-1(I) chain isoform X3 XP_005257116.2:p.Gln415Ter Q (Gln) > * (Ter) Stop Gained
COL1A1 transcript variant X3 XM_005257059.5:c.1243C>G Q [CAG] > E [GAG] Coding Sequence Variant
collagen alpha-1(I) chain isoform X3 XP_005257116.2:p.Gln415Glu Q (Gln) > E (Glu) 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: 44572 )
ClinVar Accession Disease Names Clinical Significance
RCV000029563.2 Osteogenesis imperfecta Likely-Pathogenic
RCV000403934.3 not provided Pathogenic
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 17 NC_000017.11:g.50191457= NC_000017.11:g.50191457G>A NC_000017.11:g.50191457G>C
GRCh37.p13 chr 17 NC_000017.10:g.48268818= NC_000017.10:g.48268818G>A NC_000017.10:g.48268818G>C
COL1A1 RefSeqGene (LRG_1) NG_007400.1:g.15183= NG_007400.1:g.15183C>T NG_007400.1:g.15183C>G
COL1A1 transcript NM_000088.4:c.2161= NM_000088.4:c.2161C>T NM_000088.4:c.2161C>G
COL1A1 transcript NM_000088.3:c.2161= NM_000088.3:c.2161C>T NM_000088.3:c.2161C>G
COL1A1 transcript variant X2 XM_005257058.5:c.2161= XM_005257058.5:c.2161C>T XM_005257058.5:c.2161C>G
COL1A1 transcript variant X2 XM_005257058.4:c.2161= XM_005257058.4:c.2161C>T XM_005257058.4:c.2161C>G
COL1A1 transcript variant X2 XM_005257058.3:c.2161= XM_005257058.3:c.2161C>T XM_005257058.3:c.2161C>G
COL1A1 transcript variant X1 XM_005257058.2:c.2161= XM_005257058.2:c.2161C>T XM_005257058.2:c.2161C>G
COL1A1 transcript variant X1 XM_005257058.1:c.2161= XM_005257058.1:c.2161C>T XM_005257058.1:c.2161C>G
COL1A1 transcript variant X3 XM_005257059.5:c.1243= XM_005257059.5:c.1243C>T XM_005257059.5:c.1243C>G
COL1A1 transcript variant X3 XM_005257059.4:c.1243= XM_005257059.4:c.1243C>T XM_005257059.4:c.1243C>G
COL1A1 transcript variant X3 XM_005257059.3:c.1243= XM_005257059.3:c.1243C>T XM_005257059.3:c.1243C>G
COL1A1 transcript variant X2 XM_005257059.2:c.1243= XM_005257059.2:c.1243C>T XM_005257059.2:c.1243C>G
COL1A1 transcript variant X2 XM_005257059.1:c.1243= XM_005257059.1:c.1243C>T XM_005257059.1:c.1243C>G
COL1A1 transcript variant X1 XM_011524341.2:c.1963= XM_011524341.2:c.1963C>T XM_011524341.2:c.1963C>G
COL1A1 transcript variant X1 XM_011524341.1:c.1963= XM_011524341.1:c.1963C>T XM_011524341.1:c.1963C>G
collagen alpha-1(I) chain preproprotein NP_000079.2:p.Gln721= NP_000079.2:p.Gln721Ter NP_000079.2:p.Gln721Glu
collagen alpha-1(I) chain isoform X2 XP_005257115.2:p.Gln721= XP_005257115.2:p.Gln721Ter XP_005257115.2:p.Gln721Glu
collagen alpha-1(I) chain isoform X3 XP_005257116.2:p.Gln415= XP_005257116.2:p.Gln415Ter XP_005257116.2:p.Gln415Glu
collagen alpha-1(I) chain isoform X1 XP_011522643.1:p.Gln655= XP_011522643.1:p.Gln655Ter XP_011522643.1:p.Gln655Glu
collagen alpha-1(I) chain isoform X1 XP_005257115.1:p.Gln721= XP_005257115.1:p.Gln721Ter XP_005257115.1:p.Gln721Glu
collagen alpha-1(I) chain isoform X2 XP_005257116.1:p.Gln415= XP_005257116.1:p.Gln415Ter XP_005257116.1:p.Gln415Glu
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#.

4 SubSNP, 2 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CORRELAGEN ss472336419 Nov 22, 2011 (136)
2 TOPMED ss5037721095 Apr 26, 2021 (155)
3 EVA ss5847800361 Oct 16, 2022 (156)
4 EVA ss5979508918 Oct 16, 2022 (156)
5 TopMed NC_000017.11 - 50191457 Apr 26, 2021 (155)
6 ALFA NC_000017.11 - 50191457 Apr 26, 2021 (155)
7 ClinVar RCV000029563.2 Oct 16, 2022 (156)
8 ClinVar RCV000403934.3 Oct 16, 2022 (156)
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
ss5847800361, ss5979508918 NC_000017.10:48268817:G:A NC_000017.11:50191456:G:A
RCV000029563.2, RCV000403934.3, ss472336419 NC_000017.11:50191456:G:A NC_000017.11:50191456:G:A (self)
253266757, 1969613320, ss5037721095 NC_000017.11:50191456:G:C NC_000017.11:50191456:G:C (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 rs193922145

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