Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1478330498

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:143438414 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/250968, GnomAD_exome)
G=0.0003 (1/2922, KOREAN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GAB1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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 250968 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 135018 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 48988 A=0.99998 G=0.00002
gnomAD - Exomes American Sub 34552 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16228 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10066 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6116 A=1.0000 G=0.0000
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9997 G=0.0003
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 4 NC_000004.12:g.143438414A>G
GRCh37.p13 chr 4 NC_000004.11:g.144359567A>G
LOC126807172 genomic region NG_083493.1:g.834A>G
Gene: GAB1, GRB2 associated binding protein 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GAB1 transcript variant 1 NM_207123.3:c.1009A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform a NP_997006.1:p.Ile337Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant 2 NM_002039.4:c.1009A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform b NP_002030.2:p.Ile337Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X1 XM_017007966.2:c.1051A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X1 XP_016863455.1:p.Ile351Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X2 XM_047449968.1:c.1051A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X1 XP_047305924.1:p.Ile351Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X3 XM_047449969.1:c.1051A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X1 XP_047305925.1:p.Ile351Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X4 XM_017007967.2:c.1039A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X2 XP_016863456.1:p.Ile347Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X5 XM_017007968.2:c.970A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X3 XP_016863457.1:p.Ile324Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X6 XM_047449970.1:c.958A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X4 XP_047305926.1:p.Ile320Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X7 XM_006714168.5:c.781A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X5 XP_006714231.1:p.Ile261Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X8 XM_047449971.1:c.781A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X5 XP_047305927.1:p.Ile261Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X9 XM_017007969.2:c.781A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X5 XP_016863458.1:p.Ile261Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X10 XM_017007970.2:c.781A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X5 XP_016863459.1:p.Ile261Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X11 XM_006714167.5:c.781A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X5 XP_006714230.1:p.Ile261Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X12 XM_047449972.1:c.700A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X6 XP_047305928.1:p.Ile234Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X13 XM_047449973.1:c.781A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X7 XP_047305929.1:p.Ile261Val I (Ile) > V (Val) Missense Variant
GAB1 transcript variant X14 XM_047449974.1:c.700A>G I [ATT] > V [GTT] Coding Sequence Variant
GRB2-associated-binding protein 1 isoform X8 XP_047305930.1:p.Ile234Val I (Ile) > V (Val) 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 A= G
GRCh38.p14 chr 4 NC_000004.12:g.143438414= NC_000004.12:g.143438414A>G
GRCh37.p13 chr 4 NC_000004.11:g.144359567= NC_000004.11:g.144359567A>G
LOC126807172 genomic region NG_083493.1:g.834= NG_083493.1:g.834A>G
GAB1 transcript variant X7 XM_006714168.5:c.781= XM_006714168.5:c.781A>G
GAB1 transcript variant X4 XM_006714168.4:c.781= XM_006714168.4:c.781A>G
GAB1 transcript variant X4 XM_006714168.3:c.781= XM_006714168.3:c.781A>G
GAB1 transcript variant X4 XM_006714168.2:c.781= XM_006714168.2:c.781A>G
GAB1 transcript variant X4 XM_006714168.1:c.781= XM_006714168.1:c.781A>G
GAB1 transcript variant X11 XM_006714167.5:c.781= XM_006714167.5:c.781A>G
GAB1 transcript variant X5 XM_006714167.4:c.781= XM_006714167.4:c.781A>G
GAB1 transcript variant X6 XM_006714167.3:c.781= XM_006714167.3:c.781A>G
GAB1 transcript variant X3 XM_006714167.2:c.781= XM_006714167.2:c.781A>G
GAB1 transcript variant X3 XM_006714167.1:c.781= XM_006714167.1:c.781A>G
GAB1 transcript variant 2 NM_002039.4:c.1009= NM_002039.4:c.1009A>G
GAB1 transcript variant 2 NM_002039.3:c.1009= NM_002039.3:c.1009A>G
GAB1 transcript variant 1 NM_207123.3:c.1009= NM_207123.3:c.1009A>G
GAB1 transcript variant 1 NM_207123.2:c.1009= NM_207123.2:c.1009A>G
GAB1 transcript variant X1 XM_017007966.2:c.1051= XM_017007966.2:c.1051A>G
GAB1 transcript variant X1 XM_017007966.1:c.1051= XM_017007966.1:c.1051A>G
GAB1 transcript variant X5 XM_017007968.2:c.970= XM_017007968.2:c.970A>G
GAB1 transcript variant X3 XM_017007968.1:c.970= XM_017007968.1:c.970A>G
GAB1 transcript variant X10 XM_017007970.2:c.781= XM_017007970.2:c.781A>G
GAB1 transcript variant X7 XM_017007970.1:c.781= XM_017007970.1:c.781A>G
GAB1 transcript variant X4 XM_017007967.2:c.1039= XM_017007967.2:c.1039A>G
GAB1 transcript variant X2 XM_017007967.1:c.1039= XM_017007967.1:c.1039A>G
GAB1 transcript variant X9 XM_017007969.2:c.781= XM_017007969.2:c.781A>G
GAB1 transcript variant X6 XM_017007969.1:c.781= XM_017007969.1:c.781A>G
GAB1 transcript variant X12 XM_047449972.1:c.700= XM_047449972.1:c.700A>G
GAB1 transcript variant X13 XM_047449973.1:c.781= XM_047449973.1:c.781A>G
GAB1 transcript variant X14 XM_047449974.1:c.700= XM_047449974.1:c.700A>G
GAB1 transcript variant X8 XM_047449971.1:c.781= XM_047449971.1:c.781A>G
GAB1 transcript variant X2 XM_047449968.1:c.1051= XM_047449968.1:c.1051A>G
GAB1 transcript variant X3 XM_047449969.1:c.1051= XM_047449969.1:c.1051A>G
GAB1 transcript variant X6 XM_047449970.1:c.958= XM_047449970.1:c.958A>G
GRB2-associated-binding protein 1 isoform X5 XP_006714231.1:p.Ile261= XP_006714231.1:p.Ile261Val
GRB2-associated-binding protein 1 isoform X5 XP_006714230.1:p.Ile261= XP_006714230.1:p.Ile261Val
GRB2-associated-binding protein 1 isoform b NP_002030.2:p.Ile337= NP_002030.2:p.Ile337Val
GRB2-associated-binding protein 1 isoform a NP_997006.1:p.Ile337= NP_997006.1:p.Ile337Val
GRB2-associated-binding protein 1 isoform X1 XP_016863455.1:p.Ile351= XP_016863455.1:p.Ile351Val
GRB2-associated-binding protein 1 isoform X3 XP_016863457.1:p.Ile324= XP_016863457.1:p.Ile324Val
GRB2-associated-binding protein 1 isoform X5 XP_016863459.1:p.Ile261= XP_016863459.1:p.Ile261Val
GRB2-associated-binding protein 1 isoform X2 XP_016863456.1:p.Ile347= XP_016863456.1:p.Ile347Val
GRB2-associated-binding protein 1 isoform X5 XP_016863458.1:p.Ile261= XP_016863458.1:p.Ile261Val
GRB2-associated-binding protein 1 isoform X6 XP_047305928.1:p.Ile234= XP_047305928.1:p.Ile234Val
GRB2-associated-binding protein 1 isoform X7 XP_047305929.1:p.Ile261= XP_047305929.1:p.Ile261Val
GRB2-associated-binding protein 1 isoform X8 XP_047305930.1:p.Ile234= XP_047305930.1:p.Ile234Val
GRB2-associated-binding protein 1 isoform X5 XP_047305927.1:p.Ile261= XP_047305927.1:p.Ile261Val
GRB2-associated-binding protein 1 isoform X1 XP_047305924.1:p.Ile351= XP_047305924.1:p.Ile351Val
GRB2-associated-binding protein 1 isoform X1 XP_047305925.1:p.Ile351= XP_047305925.1:p.Ile351Val
GRB2-associated-binding protein 1 isoform X4 XP_047305926.1:p.Ile320= XP_047305926.1:p.Ile320Val
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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2734752711 Nov 08, 2017 (151)
2 KRGDB ss3906590982 Apr 26, 2020 (154)
3 gnomAD - Exomes NC_000004.11 - 144359567 Jul 13, 2019 (153)
4 KOREAN population from KRGDB NC_000004.11 - 144359567 Apr 26, 2020 (154)
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
3863547, 13768376, ss2734752711, ss3906590982 NC_000004.11:144359566:A:G NC_000004.12:143438413:A:G (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 rs1478330498

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