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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1468734684

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:7108840 (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 / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/248150, GnomAD_exome)
G=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ASGR2 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 10680 C=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 C=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 C=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 C=1.00 G=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 C=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 C=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 466 C=1.000 G=0.000 1.0 0.0 0.0 N/A


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 248150 C=0.999996 T=0.000004
gnomAD - Exomes European Sub 133332 C=0.999992 T=0.000008
gnomAD - Exomes Asian Sub 48508 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34166 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16072 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10008 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6064 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 10680 C=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 G=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 G=0.000
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
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 17 NC_000017.11:g.7108840C>G
GRCh38.p14 chr 17 NC_000017.11:g.7108840C>T
GRCh37.p13 chr 17 NC_000017.10:g.7012159C>G
GRCh37.p13 chr 17 NC_000017.10:g.7012159C>T
ASGR2 RefSeqGene NG_029064.1:g.10972G>C
ASGR2 RefSeqGene NG_029064.1:g.10972G>A
Gene: ASGR2, asialoglycoprotein receptor 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ASGR2 transcript variant H2' NM_080912.3:c.173G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform a NP_550434.1:p.Cys58Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant H2' NM_080912.3:c.173G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform a NP_550434.1:p.Cys58Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant 1 NM_001181.4:c.173G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform a NP_001172.1:p.Cys58Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant 1 NM_001181.4:c.173G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform a NP_001172.1:p.Cys58Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant 2 NM_080913.3:c.116G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform b NP_550435.1:p.Cys39Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant 2 NM_080913.3:c.116G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform b NP_550435.1:p.Cys39Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant 3 NM_080914.2:c.116G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform c NP_550436.1:p.Cys39Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant 3 NM_080914.2:c.116G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform c NP_550436.1:p.Cys39Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant 4 NM_001201352.2:c.173G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform d NP_001188281.1:p.Cys58Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant 4 NM_001201352.2:c.173G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform d NP_001188281.1:p.Cys58Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant X5 XM_006721524.3:c.68-283G>C N/A Intron Variant
ASGR2 transcript variant X12 XM_024450757.2:c.68-283G>C N/A Intron Variant
ASGR2 transcript variant X4 XM_024450755.1:c.392G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X4 XP_024306523.1:p.Cys131Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant X4 XM_024450755.1:c.392G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X4 XP_024306523.1:p.Cys131Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant X1 XM_011523862.4:c.449G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X1 XP_011522164.2:p.Cys150Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant X1 XM_011523862.4:c.449G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X1 XP_011522164.2:p.Cys150Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant X2 XM_011523863.4:c.116G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X2 XP_011522165.1:p.Cys39Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant X2 XM_011523863.4:c.116G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X2 XP_011522165.1:p.Cys39Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant X3 XM_047436089.1:c.449G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X3 XP_047292045.1:p.Cys150Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant X3 XM_047436089.1:c.449G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X3 XP_047292045.1:p.Cys150Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant X6 XM_011523864.4:c.173G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X6 XP_011522166.1:p.Cys58Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant X6 XM_011523864.4:c.173G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X6 XP_011522166.1:p.Cys58Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant X7 XM_047436090.1:c.173G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X6 XP_047292046.1:p.Cys58Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant X7 XM_047436090.1:c.173G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X6 XP_047292046.1:p.Cys58Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant X8 XM_024450756.2:c.173G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X7 XP_024306524.1:p.Cys58Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant X8 XM_024450756.2:c.173G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X7 XP_024306524.1:p.Cys58Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant X9 XM_017024651.2:c.116G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X8 XP_016880140.1:p.Cys39Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant X9 XM_017024651.2:c.116G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X8 XP_016880140.1:p.Cys39Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant X10 XM_047436091.1:c.116G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X8 XP_047292047.1:p.Cys39Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant X10 XM_047436091.1:c.116G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X8 XP_047292047.1:p.Cys39Tyr C (Cys) > Y (Tyr) Missense Variant
ASGR2 transcript variant X11 XM_006721526.3:c.116G>C C [TGC] > S [TCC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X9 XP_006721589.1:p.Cys39Ser C (Cys) > S (Ser) Missense Variant
ASGR2 transcript variant X11 XM_006721526.3:c.116G>A C [TGC] > Y [TAC] Coding Sequence Variant
asialoglycoprotein receptor 2 isoform X9 XP_006721589.1:p.Cys39Tyr C (Cys) > Y (Tyr) 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 T
GRCh38.p14 chr 17 NC_000017.11:g.7108840= NC_000017.11:g.7108840C>G NC_000017.11:g.7108840C>T
GRCh37.p13 chr 17 NC_000017.10:g.7012159= NC_000017.10:g.7012159C>G NC_000017.10:g.7012159C>T
ASGR2 RefSeqGene NG_029064.1:g.10972= NG_029064.1:g.10972G>C NG_029064.1:g.10972G>A
ASGR2 transcript variant 1 NM_001181.4:c.173= NM_001181.4:c.173G>C NM_001181.4:c.173G>A
ASGR2 transcript variant H2' NM_080912.3:c.173= NM_080912.3:c.173G>C NM_080912.3:c.173G>A
ASGR2 transcript variant 2 NM_080913.3:c.116= NM_080913.3:c.116G>C NM_080913.3:c.116G>A
ASGR2 transcript variant 4 NM_001201352.2:c.173= NM_001201352.2:c.173G>C NM_001201352.2:c.173G>A
ASGR2 transcript variant 4 NM_001201352.1:c.173= NM_001201352.1:c.173G>C NM_001201352.1:c.173G>A
ASGR2 transcript variant 3 NM_080914.2:c.116= NM_080914.2:c.116G>C NM_080914.2:c.116G>A
ASGR2 transcript variant X6 XM_011523864.4:c.173= XM_011523864.4:c.173G>C XM_011523864.4:c.173G>A
ASGR2 transcript variant X6 XM_011523864.3:c.173= XM_011523864.3:c.173G>C XM_011523864.3:c.173G>A
ASGR2 transcript variant X5 XM_011523864.2:c.173= XM_011523864.2:c.173G>C XM_011523864.2:c.173G>A
ASGR2 transcript variant X4 XM_011523864.1:c.173= XM_011523864.1:c.173G>C XM_011523864.1:c.173G>A
ASGR2 transcript variant X1 XM_011523862.4:c.449= XM_011523862.4:c.449G>C XM_011523862.4:c.449G>A
ASGR2 transcript variant X1 XM_011523862.3:c.449= XM_011523862.3:c.449G>C XM_011523862.3:c.449G>A
ASGR2 transcript variant X1 XM_011523862.2:c.449= XM_011523862.2:c.449G>C XM_011523862.2:c.449G>A
ASGR2 transcript variant X1 XM_011523862.1:c.173= XM_011523862.1:c.173G>C XM_011523862.1:c.173G>A
ASGR2 transcript variant X2 XM_011523863.4:c.116= XM_011523863.4:c.116G>C XM_011523863.4:c.116G>A
ASGR2 transcript variant X2 XM_011523863.3:c.116= XM_011523863.3:c.116G>C XM_011523863.3:c.116G>A
ASGR2 transcript variant X2 XM_011523863.2:c.116= XM_011523863.2:c.116G>C XM_011523863.2:c.116G>A
ASGR2 transcript variant X2 XM_011523863.1:c.116= XM_011523863.1:c.116G>C XM_011523863.1:c.116G>A
ASGR2 transcript variant X11 XM_006721526.3:c.116= XM_006721526.3:c.116G>C XM_006721526.3:c.116G>A
ASGR2 transcript variant X12 XM_006721526.2:c.116= XM_006721526.2:c.116G>C XM_006721526.2:c.116G>A
ASGR2 transcript variant X10 XM_006721526.1:c.116= XM_006721526.1:c.116G>C XM_006721526.1:c.116G>A
ASGR2 transcript variant X8 XM_024450756.2:c.173= XM_024450756.2:c.173G>C XM_024450756.2:c.173G>A
ASGR2 transcript variant X9 XM_024450756.1:c.173= XM_024450756.1:c.173G>C XM_024450756.1:c.173G>A
ASGR2 transcript variant X9 XM_017024651.2:c.116= XM_017024651.2:c.116G>C XM_017024651.2:c.116G>A
ASGR2 transcript variant X3 XM_017024651.1:c.116= XM_017024651.1:c.116G>C XM_017024651.1:c.116G>A
ASGR2 transcript variant X7 XM_047436090.1:c.173= XM_047436090.1:c.173G>C XM_047436090.1:c.173G>A
ASGR2 transcript variant X10 XM_047436091.1:c.116= XM_047436091.1:c.116G>C XM_047436091.1:c.116G>A
ASGR2 transcript variant X3 XM_047436089.1:c.449= XM_047436089.1:c.449G>C XM_047436089.1:c.449G>A
ASGR2 transcript variant X4 XM_024450755.1:c.392= XM_024450755.1:c.392G>C XM_024450755.1:c.392G>A
asialoglycoprotein receptor 2 isoform a NP_001172.1:p.Cys58= NP_001172.1:p.Cys58Ser NP_001172.1:p.Cys58Tyr
asialoglycoprotein receptor 2 isoform a NP_550434.1:p.Cys58= NP_550434.1:p.Cys58Ser NP_550434.1:p.Cys58Tyr
asialoglycoprotein receptor 2 isoform b NP_550435.1:p.Cys39= NP_550435.1:p.Cys39Ser NP_550435.1:p.Cys39Tyr
asialoglycoprotein receptor 2 isoform d NP_001188281.1:p.Cys58= NP_001188281.1:p.Cys58Ser NP_001188281.1:p.Cys58Tyr
asialoglycoprotein receptor 2 isoform c NP_550436.1:p.Cys39= NP_550436.1:p.Cys39Ser NP_550436.1:p.Cys39Tyr
asialoglycoprotein receptor 2 isoform X6 XP_011522166.1:p.Cys58= XP_011522166.1:p.Cys58Ser XP_011522166.1:p.Cys58Tyr
asialoglycoprotein receptor 2 isoform X1 XP_011522164.2:p.Cys150= XP_011522164.2:p.Cys150Ser XP_011522164.2:p.Cys150Tyr
asialoglycoprotein receptor 2 isoform X2 XP_011522165.1:p.Cys39= XP_011522165.1:p.Cys39Ser XP_011522165.1:p.Cys39Tyr
asialoglycoprotein receptor 2 isoform X9 XP_006721589.1:p.Cys39= XP_006721589.1:p.Cys39Ser XP_006721589.1:p.Cys39Tyr
asialoglycoprotein receptor 2 isoform X7 XP_024306524.1:p.Cys58= XP_024306524.1:p.Cys58Ser XP_024306524.1:p.Cys58Tyr
asialoglycoprotein receptor 2 isoform X8 XP_016880140.1:p.Cys39= XP_016880140.1:p.Cys39Ser XP_016880140.1:p.Cys39Tyr
asialoglycoprotein receptor 2 isoform X6 XP_047292046.1:p.Cys58= XP_047292046.1:p.Cys58Ser XP_047292046.1:p.Cys58Tyr
asialoglycoprotein receptor 2 isoform X8 XP_047292047.1:p.Cys39= XP_047292047.1:p.Cys39Ser XP_047292047.1:p.Cys39Tyr
asialoglycoprotein receptor 2 isoform X3 XP_047292045.1:p.Cys150= XP_047292045.1:p.Cys150Ser XP_047292045.1:p.Cys150Tyr
asialoglycoprotein receptor 2 isoform X4 XP_024306523.1:p.Cys131= XP_024306523.1:p.Cys131Ser XP_024306523.1:p.Cys131Tyr
ASGR2 transcript variant X3 XM_005256647.1:c.344-283= XM_005256647.1:c.344-283G>C XM_005256647.1:c.344-283G>A
ASGR2 transcript variant X5 XM_006721524.3:c.68-283= XM_006721524.3:c.68-283G>C XM_006721524.3:c.68-283G>A
ASGR2 transcript variant X12 XM_024450757.2:c.68-283= XM_024450757.2:c.68-283G>C XM_024450757.2:c.68-283G>A
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#.

1 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2742383525 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000017.10 - 7012159 Jul 13, 2019 (153)
3 ALFA NC_000017.11 - 7108840 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
9476903930 NC_000017.11:7108839:C:G NC_000017.11:7108839:C:G (self)
11680862, ss2742383525 NC_000017.10:7012158:C:T NC_000017.11:7108839:C:T (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 rs1468734684

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.post820+afb47a3d