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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.

rs41307826

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr1:25306704 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.00116 (255/220458, GnomAD)
C=0.00132 (143/108282, ExAC)
C=0.0046 (120/26316, GnomAD) (+ 2 more)
C=0.0054 (64/11746, GO-ESP)
C=0.007 (34/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RHD : Missense Variant
RSRP1 : Non Coding Transcript 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.p12 chr 1 NC_000001.11:g.25306704G>C
GRCh37.p13 chr 1 NC_000001.10:g.25633195G>C
RHD RefSeqGene NG_007494.1:g.39215G>C
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.1048G>C D [GAT] > H [CAT] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 1 NP_057208.2:p.Asp350His D (Asp) > H (His) Missense Variant
RHD transcript variant 3 NM_001282867.1:c.550G>C D [GAT] > H [CAT] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 3 NP_001269796.1:p.Asp184His D (Asp) > H (His) Missense Variant
RHD transcript variant 5 NM_001282869.1:c.1048G>C D [GAT] > H [CAT] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 5 NP_001269798.1:p.Asp350His D (Asp) > H (His) Missense Variant
RHD transcript variant 6 NM_001282870.1:c.1048G>C D [GAT] > H [CAT] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 6 NP_001269799.1:p.Asp350His D (Asp) > H (His) Missense Variant
RHD transcript variant 7 NM_001282871.1:c.1048G>C D [GAT] > H [CAT] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 7 NP_001269800.1:p.Asp350His D (Asp) > H (His) Missense Variant
RHD transcript variant 8 NM_001282872.1:c.1048G>C D [GAT] > H [CAT] Coding Sequence Variant
blood group Rh(D) polypeptide isoform 8 NP_001269801.1:p.Asp350His D (Asp) > H (His) Missense Variant
RHD transcript variant X1 XM_017002015.1:c.1048G>C D [GAT] > H [CAT] Coding Sequence Variant
blood group Rh(D) polypeptide isoform X1 XP_016857504.1:p.Asp350His D (Asp) > H (His) Missense Variant
RHD transcript variant X2 XR_946736.1:n.1203G>C 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.1461C>G 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.

Not Reported in ClinVar
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 220458 G=0.99884 C=0.00116
gnomAD - Exomes European Sub 113840 G=0.99995 C=0.00005
gnomAD - Exomes Asian Sub 46012 G=1.0000 C=0.0000
gnomAD - Exomes American Sub 32120 G=0.9994 C=0.0006
gnomAD - Exomes African Sub 14640 G=0.9857 C=0.0143
gnomAD - Exomes Ashkenazi Jewish Sub 8952 G=0.998 C=0.002
gnomAD - Exomes Other Sub 4894 G=0.999 C=0.001
ExAC Global Study-wide 108282 G=0.99868 C=0.00132
ExAC Europe Sub 62378 G=0.9999 C=0.0001
ExAC Asian Sub 23990 G=1.0000 C=0.0000
ExAC American Sub 11128 G=0.9995 C=0.0005
ExAC African Sub 9954 G=0.987 C=0.013
ExAC Other Sub 832 G=1.00 C=0.00
gnomAD - Genomes Global Study-wide 26316 G=0.9954 C=0.0046
gnomAD - Genomes European Sub 14912 G=1.0000 C=0.0000
gnomAD - Genomes African Sub 7918 G=0.985 C=0.015
gnomAD - Genomes East Asian Sub 1598 G=1.000 C=0.000
gnomAD - Genomes Other Sub 808 G=1.00 C=0.00
gnomAD - Genomes American Sub 796 G=1.00 C=0.00
gnomAD - Genomes Ashkenazi Jewish Sub 284 G=1.00 C=0.00
GO Exome Sequencing Project Global Study-wide 11746 G=0.9946 C=0.0054
GO Exome Sequencing Project European American Sub 7510 G=1.000 C=0.000
GO Exome Sequencing Project African American Sub 4236 G=0.985 C=0.015
1000Genomes Global Study-wide 5008 G=0.993 C=0.007
1000Genomes African Sub 1322 G=0.976 C=0.024
1000Genomes East Asian Sub 1008 G=1.000 C=0.000
1000Genomes Europe Sub 1006 G=1.000 C=0.000
1000Genomes South Asian Sub 978 G=1.00 C=0.00
1000Genomes American Sub 694 G=1.00 C=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= C Note
GRCh38.p12 chr 1 NC_000001.11:g.25306704G= NC_000001.11:g.25306704G>C
GRCh37.p13 chr 1 NC_000001.10:g.25633195G= NC_000001.10:g.25633195G>C
RHD RefSeqGene NG_007494.1:g.39215G= NG_007494.1:g.39215G>C
RHD transcript variant 1 NM_016124.4:c.1048G= NM_016124.4:c.1048G>C
RHD transcript variant 1 NM_016124.3:c.1048G= NM_016124.3:c.1048G>C
RHD transcript variant 8 NM_001282872.1:c.1048G= NM_001282872.1:c.1048G>C
RHD transcript variant 7 NM_001282871.1:c.1048G= NM_001282871.1:c.1048G>C
RHD transcript variant 3 NM_001282867.1:c.550G= NM_001282867.1:c.550G>C
RHD transcript variant 6 NM_001282870.1:c.1048G= NM_001282870.1:c.1048G>C
RHD transcript variant 5 NM_001282869.1:c.1048G= NM_001282869.1:c.1048G>C
RSRP1 transcript variant 19 NR_135791.1:n.1461C= NR_135791.1:n.1461C>G
RHD transcript variant X1 XM_017002015.1:c.1048G= XM_017002015.1:c.1048G>C
RHD transcript variant X2 XR_946736.1:n.1203G= XR_946736.1:n.1203G>C
blood group Rh(D) polypeptide isoform 1 NP_057208.2:p.Asp350= NP_057208.2:p.Asp350His
blood group Rh(D) polypeptide isoform 8 NP_001269801.1:p.Asp350= NP_001269801.1:p.Asp350His
blood group Rh(D) polypeptide isoform 7 NP_001269800.1:p.Asp350= NP_001269800.1:p.Asp350His
blood group Rh(D) polypeptide isoform 3 NP_001269796.1:p.Asp184= NP_001269796.1:p.Asp184His
blood group Rh(D) polypeptide isoform 6 NP_001269799.1:p.Asp350= NP_001269799.1:p.Asp350His
blood group Rh(D) polypeptide isoform 5 NP_001269798.1:p.Asp350= NP_001269798.1:p.Asp350His
blood group Rh(D) polypeptide isoform X1 XP_016857504.1:p.Asp350= XP_016857504.1:p.Asp350His
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#.

15 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 SI_EXO ss61711804 Oct 18, 2006 (127)
2 1000GENOMES ss328484697 May 09, 2011 (134)
3 NHLBI-ESP ss341945951 May 09, 2011 (134)
4 1000GENOMES ss489729234 May 04, 2012 (137)
5 EXOME_CHIP ss491289454 May 04, 2012 (137)
6 ILLUMINA ss783501241 Sep 08, 2015 (146)
7 1000GENOMES ss1290089578 Aug 21, 2014 (142)
8 EVA_EXAC ss1685398939 Apr 01, 2015 (144)
9 GNOMAD ss2731264995 Nov 08, 2017 (151)
10 GNOMAD ss2746262180 Nov 08, 2017 (151)
11 GNOMAD ss2752823451 Nov 08, 2017 (151)
12 ILLUMINA ss3021067990 Nov 08, 2017 (151)
13 TOPMED ss3071295058 Nov 08, 2017 (151)
14 ILLUMINA ss3626051778 Oct 11, 2018 (152)
15 ILLUMINA ss3651393410 Oct 11, 2018 (152)
16 1000Genomes NC_000001.10 - 25633195 Oct 11, 2018 (152)
17 ExAC NC_000001.10 - 25633195 Oct 11, 2018 (152)
18 gnomAD - Genomes NC_000001.10 - 25633195 Oct 11, 2018 (152)
19 gnomAD - Exomes NC_000001.10 - 25633195 Oct 11, 2018 (152)
20 GO Exome Sequencing Project NC_000001.10 - 25633195 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
779558, 4584650, 2222650, 209696, 38546, ss328484697, ss341945951, ss489729234, ss491289454, ss783501241, ss1290089578, ss1685398939, ss2731264995, ss2746262180, ss2752823451, ss3021067990, ss3626051778, ss3651393410 NC_000001.10:25633194:G= NC_000001.11:25306703:G= (self)
ss3071295058 NC_000001.11:25306703:G= NC_000001.11:25306703:G= (self)
ss61711804 NT_004610.17:8457546:G= NC_000001.11:25306703:G= (self)
779558, 4584650, 2222650, 209696, 38546, ss328484697, ss341945951, ss489729234, ss491289454, ss783501241, ss1290089578, ss1685398939, ss2731264995, ss2746262180, ss2752823451, ss3021067990, ss3626051778, ss3651393410 NC_000001.10:25633194:G>C NC_000001.11:25306703:G>C (self)
ss3071295058 NC_000001.11:25306703:G>C NC_000001.11:25306703:G>C (self)
ss61711804 NT_004610.17:8457546:G>C NC_000001.11:25306703: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 rs41307826

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