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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.

rs1053355

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:25301061 (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
C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.004695 (1055/224718, GnomAD_exome)
G=0.016811 (2007/119388, GnomAD)
G=0.005090 (551/108262, ExAC) (+ 7 more)
G=0.01145 (140/12232, ALFA)
G=0.01757 (206/11722, GO-ESP)
G=0.0152 (76/5008, 1000G)
G=0.001 (1/998, GoNL)
G=0.006 (3/534, MGP)
G=0.015 (3/202, Qatari)
C=0.45 (10/22, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RHD : Missense Variant
RSRP1 : Intron Variant
Publications
1 citation
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.25301061C>G
GRCh37.p13 chr 1 NC_000001.10:g.25627552C>G
RHD RefSeqGene (LRG_796) NG_007494.1:g.33572C>G
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.-67+3597…

NM_001321772.2:c.-67+35979G>C

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.104C>G T [ACA] > R [AGA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 3 NP_001269796.1:p.Thr35Arg T (Thr) > R (Arg) Missense Variant
RHD transcript variant 4 NM_001282868.1:c.602C>G T [ACA] > R [AGA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 4 NP_001269797.1:p.Thr201Arg T (Thr) > R (Arg) Missense Variant
RHD transcript variant 6 NM_001282870.1:c.602C>G T [ACA] > R [AGA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 6 NP_001269799.1:p.Thr201Arg T (Thr) > R (Arg) Missense Variant
RHD transcript variant 8 NM_001282872.1:c.602C>G T [ACA] > R [AGA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 8 NP_001269801.1:p.Thr201Arg T (Thr) > R (Arg) Missense Variant
RHD transcript variant 2 NM_001127691.3:c.602C>G T [ACA] > R [AGA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 2 NP_001121163.1:p.Thr201Arg T (Thr) > R (Arg) Missense Variant
RHD transcript variant 5 NM_001282869.2:c.602C>G T [ACA] > R [AGA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 5 NP_001269798.1:p.Thr201Arg T (Thr) > R (Arg) Missense Variant
RHD transcript variant 7 NM_001282871.2:c.602C>G T [ACA] > R [AGA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 7 NP_001269800.1:p.Thr201Arg T (Thr) > R (Arg) Missense Variant
RHD transcript variant 1 NM_016124.5:c.602C>G T [ACA] > R [AGA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 1 NP_057208.2:p.Thr201Arg T (Thr) > R (Arg) Missense Variant
RHD transcript variant X1 XM_017002015.1:c.602C>G T [ACA] > R [AGA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform X1 XP_016857504.1:p.Thr201Arg T (Thr) > R (Arg) Missense Variant
RHD transcript variant X2 XR_946736.1:n.757C>G N/A Non Coding Transcript Variant
RHD transcript variant X3 XR_946737.2:n.757C>G 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: G (allele ID: 198596 )
ClinVar Accession Disease Names Clinical Significance
RCV000184007.1 Weak RhD expression Not-Provided
RCV000190496.1 Weak RhD expression 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 C=0.98855 G=0.01145
European Sub 7752 C=0.9992 G=0.0008
African Sub 2864 C=0.9598 G=0.0402
African Others Sub 108 C=0.954 G=0.046
African American Sub 2756 C=0.9601 G=0.0399
Asian Sub 108 C=1.000 G=0.000
East Asian Sub 84 C=1.00 G=0.00
Other Asian Sub 24 C=1.00 G=0.00
Latin American 1 Sub 146 C=0.986 G=0.014
Latin American 2 Sub 610 C=0.993 G=0.007
South Asian Sub 94 C=1.00 G=0.00
Other Sub 658 C=0.980 G=0.020


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 224718 C=0.995305 G=0.004695
gnomAD - Exomes European Sub 114476 C=0.999371 G=0.000629
gnomAD - Exomes Asian Sub 47006 C=0.99981 G=0.00019
gnomAD - Exomes American Sub 33048 C=0.99555 G=0.00445
gnomAD - Exomes African Sub 15532 C=0.95030 G=0.04970
gnomAD - Exomes Ashkenazi Jewish Sub 9188 C=0.9963 G=0.0037
gnomAD - Exomes Other Sub 5468 C=0.9962 G=0.0038
gnomAD - Genomes Global Study-wide 119388 C=0.983189 G=0.016811
gnomAD - Genomes European Sub 61644 C=0.99933 G=0.00067
gnomAD - Genomes African Sub 37866 C=0.95165 G=0.04835
gnomAD - Genomes American Sub 11936 C=0.99120 G=0.00880
gnomAD - Genomes East Asian Sub 3112 C=1.0000 G=0.0000
gnomAD - Genomes Ashkenazi Jewish Sub 2982 C=0.9953 G=0.0047
gnomAD - Genomes Other Sub 1848 C=0.9913 G=0.0087
ExAC Global Study-wide 108262 C=0.994910 G=0.005090
ExAC Europe Sub 62354 C=0.99929 G=0.00071
ExAC Asian Sub 23992 C=0.99983 G=0.00017
ExAC American Sub 11122 C=0.99703 G=0.00297
ExAC African Sub 9962 C=0.9528 G=0.0472
ExAC Other Sub 832 C=1.000 G=0.000
Allele Frequency Aggregator Total Global 12232 C=0.98855 G=0.01145
Allele Frequency Aggregator European Sub 7752 C=0.9992 G=0.0008
Allele Frequency Aggregator African Sub 2864 C=0.9598 G=0.0402
Allele Frequency Aggregator Other Sub 658 C=0.980 G=0.020
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.993 G=0.007
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.986 G=0.014
Allele Frequency Aggregator Asian Sub 108 C=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 G=0.00
GO Exome Sequencing Project Global Study-wide 11722 C=0.98243 G=0.01757
GO Exome Sequencing Project European American Sub 7476 C=0.9987 G=0.0013
GO Exome Sequencing Project African American Sub 4246 C=0.9538 G=0.0462
1000Genomes Global Study-wide 5008 C=0.9848 G=0.0152
1000Genomes African Sub 1322 C=0.9463 G=0.0537
1000Genomes East Asian Sub 1008 C=1.0000 G=0.0000
1000Genomes Europe Sub 1006 C=0.9980 G=0.0020
1000Genomes South Asian Sub 978 C=1.000 G=0.000
1000Genomes American Sub 694 C=0.996 G=0.004
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.999 G=0.001
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.994 G=0.006
Qatari Global Study-wide 202 C=0.985 G=0.015
SGDP_PRJ Global Study-wide 22 C=0.45 G=0.55
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.p13 chr 1 NC_000001.11:g.25301061= NC_000001.11:g.25301061C>G
GRCh37.p13 chr 1 NC_000001.10:g.25627552= NC_000001.10:g.25627552C>G
RHD RefSeqGene (LRG_796) NG_007494.1:g.33572= NG_007494.1:g.33572C>G
RHD transcript variant 1 NM_016124.4:c.602= NM_016124.4:c.602C>G
RHD transcript variant 1 NM_016124.5:c.602= NM_016124.5:c.602C>G
RHD transcript variant 1 NM_016124.3:c.602= NM_016124.3:c.602C>G
RHD transcript variant 2 NM_001127691.3:c.602= NM_001127691.3:c.602C>G
RHD transcript variant 2 NM_001127691.2:c.602= NM_001127691.2:c.602C>G
RHD transcript variant 2 NM_001127691.1:c.602= NM_001127691.1:c.602C>G
RHD transcript variant 7 NM_001282871.2:c.602= NM_001282871.2:c.602C>G
RHD transcript variant 7 NM_001282871.1:c.602= NM_001282871.1:c.602C>G
RHD transcript variant 5 NM_001282869.2:c.602= NM_001282869.2:c.602C>G
RHD transcript variant 5 NM_001282869.1:c.602= NM_001282869.1:c.602C>G
RHD transcript variant 8 NM_001282872.1:c.602= NM_001282872.1:c.602C>G
RHD transcript variant 3 NM_001282867.1:c.104= NM_001282867.1:c.104C>G
RHD transcript variant 6 NM_001282870.1:c.602= NM_001282870.1:c.602C>G
RHD transcript variant 4 NM_001282868.1:c.602= NM_001282868.1:c.602C>G
RHD transcript variant 2 NM_016225.3:c.602= NM_016225.3:c.602C>G
RHD transcript variant 2 NM_016225.2:c.602= NM_016225.2:c.602C>G
RHD transcript variant X3 XR_946737.2:n.757= XR_946737.2:n.757C>G
RHD transcript variant X1 XM_017002015.1:c.602= XM_017002015.1:c.602C>G
RHD transcript variant X2 XR_946736.1:n.757= XR_946736.1:n.757C>G
LOC51698 transcript NM_016225.1:c.602G>C NM_016225.1:c.602=
blood group Rh(D) polypeptide isoform 1 NP_057208.2:p.Thr201= NP_057208.2:p.Thr201Arg
blood group Rh(D) polypeptide isoform 2 NP_001121163.1:p.Thr201= NP_001121163.1:p.Thr201Arg
blood group Rh(D) polypeptide isoform 7 NP_001269800.1:p.Thr201= NP_001269800.1:p.Thr201Arg
blood group Rh(D) polypeptide isoform 5 NP_001269798.1:p.Thr201= NP_001269798.1:p.Thr201Arg
blood group Rh(D) polypeptide isoform 8 NP_001269801.1:p.Thr201= NP_001269801.1:p.Thr201Arg
blood group Rh(D) polypeptide isoform 3 NP_001269796.1:p.Thr35= NP_001269796.1:p.Thr35Arg
blood group Rh(D) polypeptide isoform 6 NP_001269799.1:p.Thr201= NP_001269799.1:p.Thr201Arg
blood group Rh(D) polypeptide isoform 4 NP_001269797.1:p.Thr201= NP_001269797.1:p.Thr201Arg
blood group Rh(D) polypeptide isoform X1 XP_016857504.1:p.Thr201= XP_016857504.1:p.Thr201Arg
RSRP1 transcript variant 14 NM_001321772.2:c.-67+35979= NM_001321772.2:c.-67+35979G>C
RHD transcript variant X6 XM_005245964.1:c.487-5535= XM_005245964.1:c.487-5535C>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#.

29 SubSNP, 10 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 LEE ss4419880 May 29, 2002 (108)
2 SEQUENOM ss24817615 Sep 20, 2004 (130)
3 SSAHASNP ss35194040 May 24, 2005 (130)
4 1000GENOMES ss328484627 May 09, 2011 (134)
5 NHLBI-ESP ss341945907 May 09, 2011 (134)
6 1000GENOMES ss489729216 May 04, 2012 (137)
7 EXOME_CHIP ss491289434 May 04, 2012 (137)
8 CLINSEQ_SNP ss491589284 May 04, 2012 (137)
9 TISHKOFF ss553907156 Apr 25, 2013 (138)
10 JMKIDD_LAB ss974434087 Aug 21, 2014 (142)
11 EVA-GONL ss974960336 Aug 21, 2014 (142)
12 JMKIDD_LAB ss1067418345 Aug 21, 2014 (142)
13 JMKIDD_LAB ss1067744290 Aug 21, 2014 (142)
14 1000GENOMES ss1290089392 Aug 21, 2014 (142)
15 DDI ss1425750452 Apr 01, 2015 (144)
16 EVA_EXAC ss1685398793 Apr 01, 2015 (144)
17 EVA_MGP ss1710896028 Apr 01, 2015 (144)
18 HAMMER_LAB ss1794081806 Sep 08, 2015 (146)
19 WEILL_CORNELL_DGM ss1918172154 Feb 12, 2016 (147)
20 ILLUMINA ss2632491841 Nov 08, 2017 (151)
21 GNOMAD ss2731264777 Nov 08, 2017 (151)
22 GNOMAD ss2746262116 Nov 08, 2017 (151)
23 GNOMAD ss2752822980 Nov 08, 2017 (151)
24 TOPMED ss3071294067 Nov 08, 2017 (151)
25 EVA_DECODE ss3686375170 Jul 12, 2019 (153)
26 KHV_HUMAN_GENOMES ss3798977460 Jul 12, 2019 (153)
27 EVA ss3823579806 Apr 25, 2020 (154)
28 SGDP_PRJ ss3848438335 Apr 25, 2020 (154)
29 EVA ss3986108094 Apr 25, 2021 (155)
30 1000Genomes NC_000001.10 - 25627552 Oct 11, 2018 (152)
31 ExAC NC_000001.10 - 25627552 Oct 11, 2018 (152)
32 gnomAD - Genomes NC_000001.11 - 25301061 Apr 25, 2021 (155)
33 gnomAD - Exomes NC_000001.10 - 25627552 Jul 12, 2019 (153)
34 GO Exome Sequencing Project NC_000001.10 - 25627552 Oct 11, 2018 (152)
35 Genome of the Netherlands Release 5 NC_000001.10 - 25627552 Apr 25, 2020 (154)
36 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 25627552 Apr 25, 2020 (154)
37 Qatari NC_000001.10 - 25627552 Apr 25, 2020 (154)
38 SGDP_PRJ NC_000001.10 - 25627552 Apr 25, 2020 (154)
39 ALFA NC_000001.11 - 25301061 Apr 25, 2021 (155)
40 ClinVar RCV000184007.1 Oct 11, 2018 (152)
41 ClinVar RCV000190496.1 Oct 11, 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).

Associated ID History Updated (Build)
rs3193870 Oct 09, 2002 (108)
rs17418098 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss35194040 NC_000001.8:25372867:C:G NC_000001.11:25301060:C:G (self)
ss491589284 NC_000001.9:25500138:C:G NC_000001.11:25301060:C:G (self)
779361, 4584500, 278716, 38509, 179762, 12780, 214084, 455315, ss328484627, ss341945907, ss489729216, ss491289434, ss553907156, ss974434087, ss974960336, ss1067418345, ss1067744290, ss1290089392, ss1425750452, ss1685398793, ss1710896028, ss1794081806, ss1918172154, ss2632491841, ss2731264777, ss2746262116, ss2752822980, ss3823579806, ss3848438335, ss3986108094 NC_000001.10:25627551:C:G NC_000001.11:25301060:C:G (self)
RCV000184007.1, RCV000190496.1, 5448796, 1838151706, ss3071294067, ss3686375170, ss3798977460 NC_000001.11:25301060:C:G NC_000001.11:25301060:C:G (self)
ss4419880, ss24817615 NT_004610.19:12307639:C:G NC_000001.11:25301060: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.

1 citation for rs1053355
PMID Title Author Year Journal
24579654 How do we identify RHD variants using a practical molecular approach? Arnoni CP et al. 2014 Transfusion
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