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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 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.

rs144450852

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:24870669 (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
C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000011 (3/264690, TOPMED)
G=0.000012 (3/251458, GnomAD_exome)
G=0.000007 (1/140202, GnomAD) (+ 5 more)
G=0.000008 (1/121388, ExAC)
G=0.00000 (0/35432, ALFA)
G=0.00008 (1/13006, GO-ESP)
G=0.0002 (1/6404, 1000G_30x)
G=0.0002 (1/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RNF17 : 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 35432 C=1.00000 G=0.00000
European Sub 26588 C=1.00000 G=0.00000
African Sub 2918 C=1.0000 G=0.0000
African Others Sub 114 C=1.000 G=0.000
African American Sub 2804 C=1.0000 G=0.0000
Asian Sub 112 C=1.000 G=0.000
East Asian Sub 86 C=1.00 G=0.00
Other Asian Sub 26 C=1.00 G=0.00
Latin American 1 Sub 500 C=1.000 G=0.000
Latin American 2 Sub 628 C=1.000 G=0.000
South Asian Sub 98 C=1.00 G=0.00
Other Sub 4588 C=1.0000 G=0.0000


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 C=0.999989 G=0.000011
gnomAD - Exomes Global Study-wide 251458 C=0.999988 G=0.000012
gnomAD - Exomes European Sub 135382 C=0.999985 G=0.000015
gnomAD - Exomes Asian Sub 49008 C=1.00000 G=0.00000
gnomAD - Exomes American Sub 34592 C=0.99997 G=0.00003
gnomAD - Exomes African Sub 16256 C=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6140 C=1.0000 G=0.0000
gnomAD - Genomes Global Study-wide 140202 C=0.999993 G=0.000007
gnomAD - Genomes European Sub 75934 C=0.99999 G=0.00001
gnomAD - Genomes African Sub 42004 C=1.00000 G=0.00000
gnomAD - Genomes American Sub 13660 C=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2150 C=1.0000 G=0.0000
ExAC Global Study-wide 121388 C=0.999992 G=0.000008
ExAC Europe Sub 73344 C=1.00000 G=0.00000
ExAC Asian Sub 25162 C=1.00000 G=0.00000
ExAC American Sub 11572 C=0.99991 G=0.00009
ExAC African Sub 10402 C=1.00000 G=0.00000
ExAC Other Sub 908 C=1.000 G=0.000
Allele Frequency Aggregator Total Global 35432 C=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 26588 C=1.00000 G=0.00000
Allele Frequency Aggregator Other Sub 4588 C=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2918 C=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 G=0.00
GO Exome Sequencing Project Global Study-wide 13006 C=0.99992 G=0.00008
GO Exome Sequencing Project European American Sub 8600 C=0.9999 G=0.0001
GO Exome Sequencing Project African American Sub 4406 C=1.0000 G=0.0000
1000Genomes_30x Global Study-wide 6404 C=0.9998 G=0.0002
1000Genomes_30x African Sub 1786 C=1.0000 G=0.0000
1000Genomes_30x Europe Sub 1266 C=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 G=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 G=0.0000
1000Genomes_30x American Sub 980 C=0.999 G=0.001
1000Genomes Global Study-wide 5008 C=0.9998 G=0.0002
1000Genomes African Sub 1322 C=1.0000 G=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 G=0.0000
1000Genomes Europe Sub 1006 C=1.0000 G=0.0000
1000Genomes South Asian Sub 978 C=1.000 G=0.000
1000Genomes American Sub 694 C=0.999 G=0.001
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 13 NC_000013.11:g.24870669C>G
GRCh37.p13 chr 13 NC_000013.10:g.25444807C>G
Gene: RNF17, ring finger protein 17 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RNF17 transcript variant 1 NM_031277.3:c.4377C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform 1 NP_112567.2:p.Ser1459Arg S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant 2 NM_001184993.2:c.4365C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform 2 NP_001171922.1:p.Ser1455A…

NP_001171922.1:p.Ser1455Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X1 XM_011535152.3:c.4605C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X1 XP_011533454.1:p.Ser1535A…

XP_011533454.1:p.Ser1535Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X2 XM_011535156.3:c.4605C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X1 XP_011533458.1:p.Ser1535A…

XP_011533458.1:p.Ser1535Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X3 XM_011535155.3:c.4605C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X1 XP_011533457.1:p.Ser1535A…

XP_011533457.1:p.Ser1535Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X15 XM_047430486.1:c.4605C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X1 XP_047286442.1:p.Ser1535A…

XP_047286442.1:p.Ser1535Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X4 XM_011535157.3:c.4593C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X2 XP_011533459.1:p.Ser1531A…

XP_011533459.1:p.Ser1531Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X5 XM_006719846.4:c.4584C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X3 XP_006719909.1:p.Ser1528A…

XP_006719909.1:p.Ser1528Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X6 XM_006719849.3:c.4524C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X4 XP_006719912.1:p.Ser1508A…

XP_006719912.1:p.Ser1508Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X7 XM_011535158.3:c.4479C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X5 XP_011533460.1:p.Ser1493A…

XP_011533460.1:p.Ser1493Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X8 XM_011535159.3:c.4458C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X6 XP_011533461.1:p.Ser1486A…

XP_011533461.1:p.Ser1486Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X9 XM_011535160.3:c.4446C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X7 XP_011533462.1:p.Ser1482A…

XP_011533462.1:p.Ser1482Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X10 XM_017020676.2:c.4341C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X8 XP_016876165.1:p.Ser1447A…

XP_016876165.1:p.Ser1447Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X11 XM_047430488.1:c.4101C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X9 XP_047286444.1:p.Ser1367A…

XP_047286444.1:p.Ser1367Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X12 XM_011535162.2:c.4002C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X10 XP_011533464.1:p.Ser1334A…

XP_011533464.1:p.Ser1334Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X13 XM_011535163.2:c.3291C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X11 XP_011533465.1:p.Ser1097A…

XP_011533465.1:p.Ser1097Arg

S (Ser) > R (Arg) Missense Variant
RNF17 transcript variant X14 XM_011535164.3:c.2175C>G S [AGC] > R [AGG] Coding Sequence Variant
RING finger protein 17 isoform X12 XP_011533466.1:p.Ser725Arg S (Ser) > R (Arg) 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.

Not Reported in ClinVar
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 C= G
GRCh38.p14 chr 13 NC_000013.11:g.24870669= NC_000013.11:g.24870669C>G
GRCh37.p13 chr 13 NC_000013.10:g.25444807= NC_000013.10:g.25444807C>G
RNF17 transcript variant X5 XM_006719846.4:c.4584= XM_006719846.4:c.4584C>G
RNF17 transcript variant X5 XM_006719846.3:c.4584= XM_006719846.3:c.4584C>G
RNF17 transcript variant X7 XM_006719846.2:c.4584= XM_006719846.2:c.4584C>G
RNF17 transcript variant X3 XM_006719846.1:c.4584= XM_006719846.1:c.4584C>G
RNF17 transcript variant X2 XM_011535156.3:c.4605= XM_011535156.3:c.4605C>G
RNF17 transcript variant X3 XM_011535156.2:c.4605= XM_011535156.2:c.4605C>G
RNF17 transcript variant X5 XM_011535156.1:c.4605= XM_011535156.1:c.4605C>G
RNF17 transcript variant X1 XM_011535152.3:c.4605= XM_011535152.3:c.4605C>G
RNF17 transcript variant X1 XM_011535152.2:c.4605= XM_011535152.2:c.4605C>G
RNF17 transcript variant X1 XM_011535152.1:c.4605= XM_011535152.1:c.4605C>G
RNF17 transcript variant X4 XM_011535157.3:c.4593= XM_011535157.3:c.4593C>G
RNF17 transcript variant X4 XM_011535157.2:c.4593= XM_011535157.2:c.4593C>G
RNF17 transcript variant X6 XM_011535157.1:c.4593= XM_011535157.1:c.4593C>G
RNF17 transcript variant X7 XM_011535158.3:c.4479= XM_011535158.3:c.4479C>G
RNF17 transcript variant X7 XM_011535158.2:c.4479= XM_011535158.2:c.4479C>G
RNF17 transcript variant X9 XM_011535158.1:c.4479= XM_011535158.1:c.4479C>G
RNF17 transcript variant X8 XM_011535159.3:c.4458= XM_011535159.3:c.4458C>G
RNF17 transcript variant X8 XM_011535159.2:c.4458= XM_011535159.2:c.4458C>G
RNF17 transcript variant X10 XM_011535159.1:c.4458= XM_011535159.1:c.4458C>G
RNF17 transcript variant X9 XM_011535160.3:c.4446= XM_011535160.3:c.4446C>G
RNF17 transcript variant X9 XM_011535160.2:c.4446= XM_011535160.2:c.4446C>G
RNF17 transcript variant X11 XM_011535160.1:c.4446= XM_011535160.1:c.4446C>G
RNF17 transcript variant X3 XM_011535155.3:c.4605= XM_011535155.3:c.4605C>G
RNF17 transcript variant X2 XM_011535155.2:c.4605= XM_011535155.2:c.4605C>G
RNF17 transcript variant X4 XM_011535155.1:c.4605= XM_011535155.1:c.4605C>G
RNF17 transcript variant X6 XM_006719849.3:c.4524= XM_006719849.3:c.4524C>G
RNF17 transcript variant X6 XM_006719849.2:c.4524= XM_006719849.2:c.4524C>G
RNF17 transcript variant X6 XM_006719849.1:c.4524= XM_006719849.1:c.4524C>G
RNF17 transcript variant 1 NM_031277.3:c.4377= NM_031277.3:c.4377C>G
RNF17 transcript variant 1 NM_031277.2:c.4377= NM_031277.2:c.4377C>G
RNF17 transcript variant X14 XM_011535164.3:c.2175= XM_011535164.3:c.2175C>G
RNF17 transcript variant X14 XM_011535164.2:c.2175= XM_011535164.2:c.2175C>G
RNF17 transcript variant X16 XM_011535164.1:c.2175= XM_011535164.1:c.2175C>G
RNF17 transcript variant X10 XM_017020676.2:c.4341= XM_017020676.2:c.4341C>G
RNF17 transcript variant X10 XM_017020676.1:c.4341= XM_017020676.1:c.4341C>G
RNF17 transcript variant 2 NM_001184993.2:c.4365= NM_001184993.2:c.4365C>G
RNF17 transcript variant 2 NM_001184993.1:c.4365= NM_001184993.1:c.4365C>G
RNF17 transcript variant X12 XM_011535162.2:c.4002= XM_011535162.2:c.4002C>G
RNF17 transcript variant X12 XM_011535162.1:c.4002= XM_011535162.1:c.4002C>G
RNF17 transcript variant X13 XM_011535163.2:c.3291= XM_011535163.2:c.3291C>G
RNF17 transcript variant X13 XM_011535163.1:c.3291= XM_011535163.1:c.3291C>G
TDRD4 transcript NM_019038.2:c.1818= NM_019038.2:c.1818C>G
RNF17 transcript variant X15 XM_047430486.1:c.4605= XM_047430486.1:c.4605C>G
RNF17 transcript variant X11 XM_047430488.1:c.4101= XM_047430488.1:c.4101C>G
TDRD4 transcript NM_019038.1:c.1407= NM_019038.1:c.1407C>G
RING finger protein 17 isoform X3 XP_006719909.1:p.Ser1528= XP_006719909.1:p.Ser1528Arg
RING finger protein 17 isoform X1 XP_011533458.1:p.Ser1535= XP_011533458.1:p.Ser1535Arg
RING finger protein 17 isoform X1 XP_011533454.1:p.Ser1535= XP_011533454.1:p.Ser1535Arg
RING finger protein 17 isoform X2 XP_011533459.1:p.Ser1531= XP_011533459.1:p.Ser1531Arg
RING finger protein 17 isoform X5 XP_011533460.1:p.Ser1493= XP_011533460.1:p.Ser1493Arg
RING finger protein 17 isoform X6 XP_011533461.1:p.Ser1486= XP_011533461.1:p.Ser1486Arg
RING finger protein 17 isoform X7 XP_011533462.1:p.Ser1482= XP_011533462.1:p.Ser1482Arg
RING finger protein 17 isoform X1 XP_011533457.1:p.Ser1535= XP_011533457.1:p.Ser1535Arg
RING finger protein 17 isoform X4 XP_006719912.1:p.Ser1508= XP_006719912.1:p.Ser1508Arg
RING finger protein 17 isoform 1 NP_112567.2:p.Ser1459= NP_112567.2:p.Ser1459Arg
RING finger protein 17 isoform X12 XP_011533466.1:p.Ser725= XP_011533466.1:p.Ser725Arg
RING finger protein 17 isoform X8 XP_016876165.1:p.Ser1447= XP_016876165.1:p.Ser1447Arg
RING finger protein 17 isoform 2 NP_001171922.1:p.Ser1455= NP_001171922.1:p.Ser1455Arg
RING finger protein 17 isoform X10 XP_011533464.1:p.Ser1334= XP_011533464.1:p.Ser1334Arg
RING finger protein 17 isoform X11 XP_011533465.1:p.Ser1097= XP_011533465.1:p.Ser1097Arg
RING finger protein 17 isoform X1 XP_047286442.1:p.Ser1535= XP_047286442.1:p.Ser1535Arg
RING finger protein 17 isoform X9 XP_047286444.1:p.Ser1367= XP_047286444.1:p.Ser1367Arg
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#.

10 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342373459 May 09, 2011 (134)
2 1000GENOMES ss1347508125 Aug 21, 2014 (142)
3 EVA_EXAC ss1691230545 Apr 01, 2015 (144)
4 GNOMAD ss2740321950 Nov 08, 2017 (151)
5 EVA ss3824797351 Apr 27, 2020 (154)
6 GNOMAD ss4262790659 Apr 26, 2021 (155)
7 TOPMED ss4940058863 Apr 26, 2021 (155)
8 EVA ss5409628831 Oct 16, 2022 (156)
9 1000G_HIGH_COVERAGE ss5591748944 Oct 16, 2022 (156)
10 EVA ss5924383604 Oct 16, 2022 (156)
11 1000Genomes NC_000013.10 - 25444807 Oct 12, 2018 (152)
12 1000Genomes_30x NC_000013.11 - 24870669 Oct 16, 2022 (156)
13 ExAC NC_000013.10 - 25444807 Oct 12, 2018 (152)
14 gnomAD - Genomes NC_000013.11 - 24870669 Apr 26, 2021 (155)
15 gnomAD - Exomes NC_000013.10 - 25444807 Jul 13, 2019 (153)
16 GO Exome Sequencing Project NC_000013.10 - 25444807 Oct 12, 2018 (152)
17 TopMed NC_000013.11 - 24870669 Apr 26, 2021 (155)
18 ALFA NC_000013.11 - 24870669 Apr 26, 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
60352016, 1554433, 9563561, 1254744, ss342373459, ss1347508125, ss1691230545, ss2740321950, ss3824797351, ss5409628831 NC_000013.10:25444806:C:G NC_000013.11:24870668:C:G (self)
79274879, 425602964, 155604521, 858595608, ss4262790659, ss4940058863, ss5591748944, ss5924383604 NC_000013.11:24870668:C:G NC_000013.11:24870668:C: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 rs144450852

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