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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.

rs17418085

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:25290760 (GRCh38.p13) 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
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.005444 (1224/224846, GnomAD_exome)
C=0.020568 (2441/118682, GnomAD)
C=0.006627 (718/108346, ExAC) (+ 9 more)
C=0.00018 (3/16668, 8.3KJPN)
C=0.01422 (174/12232, ALFA)
C=0.01009 (120/11896, GO-ESP)
C=0.0268 (134/5008, 1000G)
C=0.0017 (5/2912, KOREAN)
C=0.001 (1/998, GoNL)
C=0.025 (5/202, Qatari)
A=0.50 (10/20, SGDP_PRJ)
C=0.50 (10/20, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RHD : Missense Variant
RSRP1 : Intron 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.p13 chr 1 NC_000001.11:g.25290760A>C
GRCh37.p13 chr 1 NC_000001.10:g.25617251A>C
RHD RefSeqGene (LRG_796) NG_007494.1:g.23271A>C
Gene: RSRP1, arginine and serine rich protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RSRP1 transcript variant 14 NM_001321772.2:c.-66-4373…

NM_001321772.2:c.-66-43731T>G

N/A Intron Variant
RSRP1 transcript variant 2 NM_020317.5:c. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 15 NR_135787.2:n. N/A Intron Variant
RSRP1 transcript variant 16 NR_135788.2:n. N/A Intron Variant
RSRP1 transcript variant 17 NR_135789.2:n. N/A Intron Variant
RSRP1 transcript variant 3 NR_135143.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 4 NR_135144.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 5 NR_135777.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 6 NR_135778.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 7 NR_135780.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 8 NR_135781.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 9 NR_135782.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 10 NR_135783.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 11 NR_135784.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 12 NR_135785.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 13 NR_135786.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 18 NR_135790.1:n. N/A Genic Downstream Transcript Variant
RSRP1 transcript variant 19 NR_135791.1:n. N/A Genic Downstream Transcript Variant
RSRP1 transcript variant 20 NR_135792.1:n. N/A Genic Downstream Transcript Variant
RSRP1 transcript variant 21 NR_135793.1:n. N/A Genic Downstream Transcript Variant
RSRP1 transcript variant X1 XM_011541797.1:c. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant X2 XR_946709.2:n. N/A Genic Upstream Transcript Variant
Gene: RHD, Rh blood group D antigen (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RHD transcript variant 3 NM_001282867.1:c.-40= N/A 5 Prime UTR Variant
RHD transcript variant 4 NM_001282868.1:c.455A>C N [AAC] > T [ACC] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 4 NP_001269797.1:p.Asn152Thr N (Asn) > T (Thr) Missense Variant
RHD transcript variant 6 NM_001282870.1:c.455A>C N [AAC] > T [ACC] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 6 NP_001269799.1:p.Asn152Thr N (Asn) > T (Thr) Missense Variant
RHD transcript variant 8 NM_001282872.1:c.455A>C N [AAC] > T [ACC] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 8 NP_001269801.1:p.Asn152Thr N (Asn) > T (Thr) Missense Variant
RHD transcript variant 2 NM_001127691.3:c.455A>C N [AAC] > T [ACC] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 2 NP_001121163.1:p.Asn152Thr N (Asn) > T (Thr) Missense Variant
RHD transcript variant 5 NM_001282869.2:c.455A>C N [AAC] > T [ACC] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 5 NP_001269798.1:p.Asn152Thr N (Asn) > T (Thr) Missense Variant
RHD transcript variant 7 NM_001282871.2:c.455A>C N [AAC] > T [ACC] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 7 NP_001269800.1:p.Asn152Thr N (Asn) > T (Thr) Missense Variant
RHD transcript variant 1 NM_016124.5:c.455A>C N [AAC] > T [ACC] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 1 NP_057208.2:p.Asn152Thr N (Asn) > T (Thr) Missense Variant
RHD transcript variant X1 XM_017002015.1:c.455A>C N [AAC] > T [ACC] Coding Sequence Variant
blood group Rh(D) polypeptide isoform X1 XP_016857504.1:p.Asn152Thr N (Asn) > T (Thr) Missense Variant
RHD transcript variant X2 XR_946736.1:n.610A>C N/A Non Coding Transcript Variant
RHD transcript variant X3 XR_946737.2:n.610A>C N/A Non Coding 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: C (allele ID: 622839 )
ClinVar Accession Disease Names Clinical Significance
RCV000785870.1 Partial RhD Not-Provided
RCV000785871.1 Partial RhD Not-Provided

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 12232 A=0.98578 C=0.01422
European Sub 7752 A=0.9995 C=0.0005
African Sub 2864 A=0.9462 C=0.0538
African Others Sub 108 A=0.944 C=0.056
African American Sub 2756 A=0.9463 C=0.0537
Asian Sub 108 A=1.000 C=0.000
East Asian Sub 84 A=1.00 C=0.00
Other Asian Sub 24 A=1.00 C=0.00
Latin American 1 Sub 146 A=0.993 C=0.007
Latin American 2 Sub 610 A=0.989 C=0.011
South Asian Sub 94 A=1.00 C=0.00
Other Sub 658 A=0.988 C=0.012


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
gnomAD - Exomes Global Study-wide 224846 A=0.994556 C=0.005444
gnomAD - Exomes European Sub 114664 A=0.999625 C=0.000375
gnomAD - Exomes Asian Sub 46984 A=0.99949 C=0.00051
gnomAD - Exomes American Sub 33026 A=0.99661 C=0.00339
gnomAD - Exomes African Sub 15524 A=0.93803 C=0.06197
gnomAD - Exomes Ashkenazi Jewish Sub 9176 A=0.9938 C=0.0062
gnomAD - Exomes Other Sub 5472 A=0.9952 C=0.0048
gnomAD - Genomes Global Study-wide 118682 A=0.979432 C=0.020568
gnomAD - Genomes European Sub 60940 A=0.99972 C=0.00028
gnomAD - Genomes African Sub 38104 A=0.94048 C=0.05952
gnomAD - Genomes American Sub 11762 A=0.99082 C=0.00918
gnomAD - Genomes East Asian Sub 3094 A=0.9997 C=0.0003
gnomAD - Genomes Ashkenazi Jewish Sub 2974 A=0.9929 C=0.0071
gnomAD - Genomes Other Sub 1808 A=0.9856 C=0.0144
ExAC Global Study-wide 108346 A=0.993373 C=0.006627
ExAC Europe Sub 62350 A=0.99950 C=0.00050
ExAC Asian Sub 23982 A=0.99954 C=0.00046
ExAC American Sub 11112 A=0.99802 C=0.00198
ExAC African Sub 10066 A=0.93533 C=0.06467
ExAC Other Sub 836 A=0.996 C=0.004
8.3KJPN JAPANESE Study-wide 16668 A=0.99982 C=0.00018
Allele Frequency Aggregator Total Global 12232 A=0.98578 C=0.01422
Allele Frequency Aggregator European Sub 7752 A=0.9995 C=0.0005
Allele Frequency Aggregator African Sub 2864 A=0.9462 C=0.0538
Allele Frequency Aggregator Other Sub 658 A=0.988 C=0.012
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.989 C=0.011
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.993 C=0.007
Allele Frequency Aggregator Asian Sub 108 A=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 A=1.00 C=0.00
GO Exome Sequencing Project Global Study-wide 11896 A=0.98991 C=0.01009
GO Exome Sequencing Project European American Sub 7604 A=0.9988 C=0.0012
GO Exome Sequencing Project African American Sub 4292 A=0.9741 C=0.0259
1000Genomes Global Study-wide 5008 A=0.9732 C=0.0268
1000Genomes African Sub 1322 A=0.9175 C=0.0825
1000Genomes East Asian Sub 1008 A=1.0000 C=0.0000
1000Genomes Europe Sub 1006 A=0.9881 C=0.0119
1000Genomes South Asian Sub 978 A=0.994 C=0.006
1000Genomes American Sub 694 A=0.990 C=0.010
KOREAN population from KRGDB KOREAN Study-wide 2912 A=0.9983 C=0.0017
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.999 C=0.001
Qatari Global Study-wide 202 A=0.975 C=0.025
SGDP_PRJ Global Study-wide 20 A=0.50 C=0.50
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
GRCh38.p13 chr 1 NC_000001.11:g.25290760= NC_000001.11:g.25290760A>C
GRCh37.p13 chr 1 NC_000001.10:g.25617251= NC_000001.10:g.25617251A>C
RHD RefSeqGene (LRG_796) NG_007494.1:g.23271= NG_007494.1:g.23271A>C
RHD transcript variant 1 NM_016124.4:c.455= NM_016124.4:c.455A>C
RHD transcript variant 1 NM_016124.5:c.455= NM_016124.5:c.455A>C
RHD transcript variant 1 NM_016124.3:c.455= NM_016124.3:c.455A>C
RHD transcript variant 2 NM_001127691.3:c.455= NM_001127691.3:c.455A>C
RHD transcript variant 2 NM_001127691.2:c.455= NM_001127691.2:c.455A>C
RHD transcript variant 2 NM_001127691.1:c.455= NM_001127691.1:c.455A>C
RHD transcript variant 7 NM_001282871.2:c.455= NM_001282871.2:c.455A>C
RHD transcript variant 7 NM_001282871.1:c.455= NM_001282871.1:c.455A>C
RHD transcript variant 5 NM_001282869.2:c.455= NM_001282869.2:c.455A>C
RHD transcript variant 5 NM_001282869.1:c.455= NM_001282869.1:c.455A>C
RHD transcript variant 8 NM_001282872.1:c.455= NM_001282872.1:c.455A>C
RHD transcript variant 3 NM_001282867.1:c.-40= NM_001282867.1:c.-40A>C
RHD transcript variant 6 NM_001282870.1:c.455= NM_001282870.1:c.455A>C
RHD transcript variant 4 NM_001282868.1:c.455= NM_001282868.1:c.455A>C
RHD transcript variant 2 NM_016225.3:c.455= NM_016225.3:c.455A>C
RHD transcript variant 2 NM_016225.2:c.455= NM_016225.2:c.455A>C
RHD transcript variant X3 XR_946737.2:n.610= XR_946737.2:n.610A>C
FLJ14320 transcript NM_032386.1:c.*1799= NM_032386.1:c.*1799T>G
RHD transcript variant X1 XM_017002015.1:c.455= XM_017002015.1:c.455A>C
RHD transcript variant X2 XR_946736.1:n.610= XR_946736.1:n.610A>C
LOC51698 transcript NM_016225.1:c.455C>A NM_016225.1:c.455=
blood group Rh(D) polypeptide isoform 1 NP_057208.2:p.Asn152= NP_057208.2:p.Asn152Thr
blood group Rh(D) polypeptide isoform 2 NP_001121163.1:p.Asn152= NP_001121163.1:p.Asn152Thr
blood group Rh(D) polypeptide isoform 7 NP_001269800.1:p.Asn152= NP_001269800.1:p.Asn152Thr
blood group Rh(D) polypeptide isoform 5 NP_001269798.1:p.Asn152= NP_001269798.1:p.Asn152Thr
blood group Rh(D) polypeptide isoform 8 NP_001269801.1:p.Asn152= NP_001269801.1:p.Asn152Thr
blood group Rh(D) polypeptide isoform 6 NP_001269799.1:p.Asn152= NP_001269799.1:p.Asn152Thr
blood group Rh(D) polypeptide isoform 4 NP_001269797.1:p.Asn152= NP_001269797.1:p.Asn152Thr
blood group Rh(D) polypeptide isoform X1 XP_016857504.1:p.Asn152= XP_016857504.1:p.Asn152Thr
RSRP1 transcript variant 14 NM_001321772.2:c.-66-43731= NM_001321772.2:c.-66-43731T>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#.

20 SubSNP, 11 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss341945887 May 09, 2011 (137)
2 1000GENOMES ss488657948 May 04, 2012 (137)
3 EXOME_CHIP ss491289430 May 04, 2012 (137)
4 CLINSEQ_SNP ss491589281 May 04, 2012 (137)
5 EVA-GONL ss974960279 Aug 21, 2014 (142)
6 1000GENOMES ss1290089118 Aug 21, 2014 (142)
7 DDI ss1425750410 Apr 01, 2015 (144)
8 EVA_EXAC ss1685398739 Apr 01, 2015 (144)
9 WEILL_CORNELL_DGM ss1918172061 Feb 12, 2016 (147)
10 GNOMAD ss2731264708 Nov 08, 2017 (151)
11 GNOMAD ss2746262092 Nov 08, 2017 (151)
12 GNOMAD ss2752822169 Nov 08, 2017 (151)
13 TOPMED ss3071292322 Nov 08, 2017 (151)
14 KHV_HUMAN_GENOMES ss3798977362 Jul 12, 2019 (153)
15 EVA ss3823579784 Apr 25, 2020 (154)
16 SGDP_PRJ ss3848438098 Apr 25, 2020 (154)
17 KRGDB ss3893357961 Apr 25, 2020 (154)
18 EVA ss3986108081 Apr 25, 2021 (155)
19 TOMMO_GENOMICS ss5142995462 Apr 25, 2021 (155)
20 EVA ss5236866393 Apr 25, 2021 (155)
21 1000Genomes NC_000001.10 - 25617251 Oct 11, 2018 (152)
22 ExAC NC_000001.10 - 25617251 Oct 11, 2018 (152)
23 gnomAD - Genomes NC_000001.11 - 25290760 Apr 25, 2021 (155)
24 gnomAD - Exomes NC_000001.10 - 25617251 Jul 12, 2019 (153)
25 GO Exome Sequencing Project NC_000001.10 - 25617251 Oct 11, 2018 (152)
26 Genome of the Netherlands Release 5 NC_000001.10 - 25617251 Apr 25, 2020 (154)
27 KOREAN population from KRGDB NC_000001.10 - 25617251 Apr 25, 2020 (154)
28 Qatari NC_000001.10 - 25617251 Apr 25, 2020 (154)
29 SGDP_PRJ NC_000001.10 - 25617251 Apr 25, 2020 (154)
30 8.3KJPN NC_000001.10 - 25617251 Apr 25, 2021 (155)
31 ALFA NC_000001.11 - 25290760 Apr 25, 2021 (155)
32 ClinVar RCV000785870.1 Jul 12, 2019 (153)
33 ClinVar RCV000785871.1 Jul 12, 2019 (153)
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).

Associated ID History Updated (Build)
rs140093557 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491589281 NC_000001.9:25489837:A:C NC_000001.11:25290759:A:C (self)
779082, 4584437, 278634, 38487, 179723, 535355, 213991, 455078, 964769, ss341945887, ss488657948, ss491289430, ss974960279, ss1290089118, ss1425750410, ss1685398739, ss1918172061, ss2731264708, ss2746262092, ss2752822169, ss3823579784, ss3848438098, ss3893357961, ss3986108081, ss5142995462 NC_000001.10:25617250:A:C NC_000001.11:25290759:A:C (self)
RCV000785870.1, RCV000785871.1, 5447201, 2134589666, ss3071292322, ss3798977362, ss5236866393 NC_000001.11:25290759:A:C NC_000001.11:25290759:A: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 rs17418085

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.post596+ae089ad