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dbSNP Short Genetic Variations

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.

rs146292192

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr1:25306613 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00059 (130/220256, GnomAD)
A=0.00057 (62/108298, ExAC)
A=0.0025 (67/26290, GnomAD) (+ 2 more)
A=0.0020 (23/11772, GO-ESP)
A=0.001 (6/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RHD : Synonymous Variant
RSRP1 : Non Coding Transcript 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.p12 chr 1 NC_000001.11:g.25306613G>A
GRCh37.p13 chr 1 NC_000001.10:g.25633104G>A
RHD RefSeqGene NG_007494.1:g.39124G>A
Gene: RHD, Rh blood group D antigen (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RHD transcript variant 2 NM_001127691.2:c. N/A Intron Variant
RHD transcript variant 4 NM_001282868.1:c. N/A Intron Variant
RHD transcript variant 1 NM_016124.4:c.957G>A V [GTG] > V [GTA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 1 NP_057208.2:p.Val319= V (Val) > V (Val) Synonymous Variant
RHD transcript variant 3 NM_001282867.1:c.459G>A V [GTG] > V [GTA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 3 NP_001269796.1:p.Val153= V (Val) > V (Val) Synonymous Variant
RHD transcript variant 5 NM_001282869.1:c.957G>A V [GTG] > V [GTA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 5 NP_001269798.1:p.Val319= V (Val) > V (Val) Synonymous Variant
RHD transcript variant 6 NM_001282870.1:c.957G>A V [GTG] > V [GTA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 6 NP_001269799.1:p.Val319= V (Val) > V (Val) Synonymous Variant
RHD transcript variant 7 NM_001282871.1:c.957G>A V [GTG] > V [GTA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 7 NP_001269800.1:p.Val319= V (Val) > V (Val) Synonymous Variant
RHD transcript variant 8 NM_001282872.1:c.957G>A V [GTG] > V [GTA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 8 NP_001269801.1:p.Val319= V (Val) > V (Val) Synonymous Variant
RHD transcript variant X1 XM_017002015.1:c.957G>A V [GTG] > V [GTA] Coding Sequence Variant
blood group Rh(D) polypeptide isoform X1 XP_016857504.1:p.Val319= V (Val) > V (Val) Synonymous Variant
RHD transcript variant X2 XR_946736.1:n.1112G>A N/A Non Coding Transcript Variant
RHD transcript variant X3 XR_946737.2:n. N/A Intron Variant
Gene: RSRP1, arginine and serine rich protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RSRP1 transcript variant 14 NM_001321772.1:c. N/A Intron Variant
RSRP1 transcript variant 2 NM_020317.4:c. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 19 NR_135791.1:n.1552C>T N/A Non Coding Transcript Variant
RSRP1 transcript variant 15 NR_135787.1:n. N/A Intron Variant
RSRP1 transcript variant 16 NR_135788.1:n. N/A Intron Variant
RSRP1 transcript variant 17 NR_135789.1:n. N/A Intron Variant
RSRP1 transcript variant 18 NR_135790.1:n. N/A Intron Variant
RSRP1 transcript variant 20 NR_135792.1:n. N/A Intron Variant
RSRP1 transcript variant 21 NR_135793.1:n. N/A Intron Variant
RSRP1 transcript variant 3 NR_135143.1:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 4 NR_135144.1:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 5 NR_135777.1:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 6 NR_135778.1:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 7 NR_135780.1:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 8 NR_135781.1:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 9 NR_135782.1:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 10 NR_135783.1:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 11 NR_135784.1:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 12 NR_135785.1:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 13 NR_135786.1:n. N/A Genic Upstream 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
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: 198599 )
ClinVar Accession Disease Names Clinical Significance
RCV000184007.1 Weak RhD expression Not-Provided
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
gnomAD - Exomes Global Study-wide 220256 G=0.99941 A=0.00059
gnomAD - Exomes European Sub 113622 G=0.99998 A=0.00002
gnomAD - Exomes Asian Sub 46018 G=1.0000 A=0.0000
gnomAD - Exomes American Sub 32112 G=0.9991 A=0.0009
gnomAD - Exomes African Sub 14640 G=0.9936 A=0.0064
gnomAD - Exomes Ashkenazi Jewish Sub 8970 G=1.000 A=0.000
gnomAD - Exomes Other Sub 4894 G=1.000 A=0.000
ExAC Global Study-wide 108298 G=0.99943 A=0.00057
ExAC Europe Sub 62380 G=1.0000 A=0.0000
ExAC Asian Sub 23992 G=1.0000 A=0.0000
ExAC American Sub 11128 G=0.9996 A=0.0004
ExAC African Sub 9964 G=0.994 A=0.006
ExAC Other Sub 834 G=1.00 A=0.00
gnomAD - Genomes Global Study-wide 26290 G=0.9975 A=0.0025
gnomAD - Genomes European Sub 14922 G=1.0000 A=0.0000
gnomAD - Genomes African Sub 7888 G=0.992 A=0.008
gnomAD - Genomes East Asian Sub 1602 G=1.000 A=0.000
gnomAD - Genomes American Sub 804 G=1.00 A=0.00
gnomAD - Genomes Other Sub 796 G=1.00 A=0.00
gnomAD - Genomes Ashkenazi Jewish Sub 278 G=1.00 A=0.00
GO Exome Sequencing Project Global Study-wide 11772 G=0.9980 A=0.0020
GO Exome Sequencing Project European American Sub 7530 G=1.000 A=0.000
GO Exome Sequencing Project African American Sub 4242 G=0.995 A=0.005
1000Genomes Global Study-wide 5008 G=0.999 A=0.001
1000Genomes African Sub 1322 G=0.996 A=0.004
1000Genomes East Asian Sub 1008 G=1.000 A=0.000
1000Genomes Europe Sub 1006 G=1.000 A=0.000
1000Genomes South Asian Sub 978 G=1.00 A=0.00
1000Genomes American Sub 694 G=1.00 A=0.00
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 Note
GRCh38.p12 chr 1 NC_000001.11:g.25306613G= NC_000001.11:g.25306613G>A
GRCh37.p13 chr 1 NC_000001.10:g.25633104G= NC_000001.10:g.25633104G>A
RHD RefSeqGene NG_007494.1:g.39124G= NG_007494.1:g.39124G>A
RHD transcript variant 1 NM_016124.4:c.957G= NM_016124.4:c.957G>A
RHD transcript variant 1 NM_016124.3:c.957G= NM_016124.3:c.957G>A
RHD transcript variant 8 NM_001282872.1:c.957G= NM_001282872.1:c.957G>A
RHD transcript variant 7 NM_001282871.1:c.957G= NM_001282871.1:c.957G>A
RHD transcript variant 3 NM_001282867.1:c.459G= NM_001282867.1:c.459G>A
RHD transcript variant 6 NM_001282870.1:c.957G= NM_001282870.1:c.957G>A
RHD transcript variant 5 NM_001282869.1:c.957G= NM_001282869.1:c.957G>A
RSRP1 transcript variant 19 NR_135791.1:n.1552C= NR_135791.1:n.1552C>T
RHD transcript variant X1 XM_017002015.1:c.957G= XM_017002015.1:c.957G>A
RHD transcript variant X2 XR_946736.1:n.1112G= XR_946736.1:n.1112G>A
blood group Rh(D) polypeptide isoform 1 NP_057208.2:p.Val319= NP_057208.2:p.Val319=
blood group Rh(D) polypeptide isoform 8 NP_001269801.1:p.Val319= NP_001269801.1:p.Val319=
blood group Rh(D) polypeptide isoform 7 NP_001269800.1:p.Val319= NP_001269800.1:p.Val319=
blood group Rh(D) polypeptide isoform 3 NP_001269796.1:p.Val153= NP_001269796.1:p.Val153=
blood group Rh(D) polypeptide isoform 6 NP_001269799.1:p.Val319= NP_001269799.1:p.Val319=
blood group Rh(D) polypeptide isoform 5 NP_001269798.1:p.Val319= NP_001269798.1:p.Val319=
blood group Rh(D) polypeptide isoform X1 XP_016857504.1:p.Val319= XP_016857504.1:p.Val319=
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#.

13 SubSNP, 5 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss328484695 May 09, 2011 (134)
2 NHLBI-ESP ss341945944 May 09, 2011 (134)
3 1000GENOMES ss489729230 May 04, 2012 (137)
4 ROSENBERGLAB ss749602137 Aug 21, 2014 (142)
5 JMKIDD_LAB ss1067418348 Aug 21, 2014 (142)
6 JMKIDD_LAB ss1067744309 Aug 21, 2014 (142)
7 1000GENOMES ss1290089572 Aug 21, 2014 (142)
8 EVA_EXAC ss1685398920 Apr 01, 2015 (144)
9 WEILL_CORNELL_DGM ss1918172209 Feb 12, 2016 (147)
10 GNOMAD ss2731264967 Nov 08, 2017 (151)
11 GNOMAD ss2746262173 Nov 08, 2017 (151)
12 GNOMAD ss2752823444 Nov 08, 2017 (151)
13 TOPMED ss3071295044 Nov 08, 2017 (151)
14 1000Genomes NC_000001.10 - 25633104 Oct 11, 2018 (152)
15 ExAC NC_000001.10 - 25633104 Oct 11, 2018 (152)
16 gnomAD - Genomes NC_000001.10 - 25633104 Oct 11, 2018 (152)
17 gnomAD - Exomes NC_000001.10 - 25633104 Oct 11, 2018 (152)
18 GO Exome Sequencing Project NC_000001.10 - 25633104 Oct 11, 2018 (152)
19 ClinVar RCV000184007.1 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).

Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss749602137 NC_000001.9:25505690:G= NC_000001.11:25306612:G= (self)
779552, 4584631, 2222643, 209670, 38542, ss328484695, ss341945944, ss489729230, ss1067418348, ss1067744309, ss1290089572, ss1685398920, ss1918172209, ss2731264967, ss2746262173, ss2752823444 NC_000001.10:25633103:G= NC_000001.11:25306612:G= (self)
ss3071295044 NC_000001.11:25306612:G= NC_000001.11:25306612:G= (self)
ss749602137 NC_000001.9:25505690:G>A NC_000001.11:25306612:G>A (self)
779552, 4584631, 2222643, 209670, 38542, ss328484695, ss341945944, ss489729230, ss1067418348, ss1067744309, ss1290089572, ss1685398920, ss1918172209, ss2731264967, ss2746262173, ss2752823444 NC_000001.10:25633103:G>A NC_000001.11:25306612:G>A (self)
RCV000184007.1, ss3071295044 NC_000001.11:25306612:G>A NC_000001.11:25306612:G>A (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 rs146292192
PMID Title Author Year Journal
24579654 How do we identify RHD variants using a practical molecular approach? Arnoni CP et al. 2014 Transfusion

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.post104+4a6ee9c