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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.

rs1468650329

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:113101923-113101926 (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
delAC
Variation Type
Indel Insertion and Deletion
Frequency
delAC=0.000007 (1/140278, GnomAD)
delAC=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RASAL1 : Frameshift 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 ACAC=1.00000 AC=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 ACAC=1.0000 AC=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 ACAC=1.0000 AC=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 ACAC=1.00 AC=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 ACAC=1.0000 AC=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 ACAC=1.000 AC=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 ACAC=1.00 AC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 ACAC=1.00 AC=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 ACAC=1.000 AC=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 ACAC=1.000 AC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 ACAC=1.00 AC=0.00 1.0 0.0 0.0 N/A
Other Sub 466 ACAC=1.000 AC=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 - Genomes Global Study-wide 140278 ACAC=0.999993 delAC=0.000007
gnomAD - Genomes European Sub 75946 ACAC=1.00000 delAC=0.00000
gnomAD - Genomes African Sub 42066 ACAC=0.99998 delAC=0.00002
gnomAD - Genomes American Sub 13656 ACAC=1.00000 delAC=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 ACAC=1.0000 delAC=0.0000
gnomAD - Genomes East Asian Sub 3132 ACAC=1.0000 delAC=0.0000
gnomAD - Genomes Other Sub 2154 ACAC=1.0000 delAC=0.0000
Allele Frequency Aggregator Total Global 10680 ACAC=1.00000 delAC=0.00000
Allele Frequency Aggregator European Sub 6962 ACAC=1.0000 delAC=0.0000
Allele Frequency Aggregator African Sub 2294 ACAC=1.0000 delAC=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 ACAC=1.000 delAC=0.000
Allele Frequency Aggregator Other Sub 466 ACAC=1.000 delAC=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 ACAC=1.000 delAC=0.000
Allele Frequency Aggregator Asian Sub 108 ACAC=1.000 delAC=0.000
Allele Frequency Aggregator South Asian Sub 94 ACAC=1.00 delAC=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 12 NC_000012.12:g.113101923AC[1]
GRCh37.p13 chr 12 NC_000012.11:g.113539728AC[1]
RASAL1 RefSeqGene NG_047089.1:g.39314GT[1]
Gene: RASAL1, RAS protein activator like 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RASAL1 transcript variant 10 NM_001394086.1:c.2106_210…

NM_001394086.1:c.2106_2107del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 5 NP_001381015.1:p.Tyr703fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant 13 NM_001394089.1:c.1524_152…

NM_001394089.1:c.1524_1525del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 8 NP_001381018.1:p.Tyr509fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant 5 NM_001394081.1:c.2193_219…

NM_001394081.1:c.2193_2194del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 1 NP_001381010.1:p.Tyr732fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant 11 NM_001394087.1:c.2001_200…

NM_001394087.1:c.2001_2002del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 6 NP_001381016.1:p.Tyr668fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant 6 NM_001394082.1:c.2190_219…

NM_001394082.1:c.2190_2191del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 4 NP_001381011.1:p.Tyr731fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant 2 NM_004658.3:c.2187_2188del V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 2 NP_004649.2:p.Tyr730fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant 1 NM_001193520.2:c.2193_219…

NM_001193520.2:c.2193_2194del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 1 NP_001180449.1:p.Tyr732fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant 4 NM_001301202.2:c.2190_219…

NM_001301202.2:c.2190_2191del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 4 NP_001288131.1:p.Tyr731fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant 9 NM_001394085.1:c.2187_218…

NM_001394085.1:c.2187_2188del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 2 NP_001381014.1:p.Tyr730fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant 7 NM_001394083.1:c.2190_219…

NM_001394083.1:c.2190_2191del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 4 NP_001381012.1:p.Tyr731fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant 3 NM_001193521.3:c.2103_210…

NM_001193521.3:c.2103_2104del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 3 NP_001180450.1:p.Tyr702fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant 12 NM_001394088.1:c.1827_182…

NM_001394088.1:c.1827_1828del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 7 NP_001381017.1:p.Tyr610fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant 8 NM_001394084.1:c.2190_219…

NM_001394084.1:c.2190_2191del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform 4 NP_001381013.1:p.Tyr731fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant X6 XM_047429678.1:c.*1155_*1…

XM_047429678.1:c.*1155_*1158=

N/A 3 Prime UTR Variant
RASAL1 transcript variant X8 XM_047429679.1:c.*1155_*1…

XM_047429679.1:c.*1155_*1158=

N/A 3 Prime UTR Variant
RASAL1 transcript variant X1 XM_005253950.5:c.2193_219…

XM_005253950.5:c.2193_2194del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform X1 XP_005254007.1:p.Tyr732fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant X2 XM_006719641.4:c.2193_219…

XM_006719641.4:c.2193_2194del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform X1 XP_006719704.1:p.Tyr732fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant X3 XM_047429676.1:c.2193_219…

XM_047429676.1:c.2193_2194del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform X1 XP_047285632.1:p.Tyr732fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant X4 XM_006719642.4:c.2190_219…

XM_006719642.4:c.2190_2191del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform X2 XP_006719705.1:p.Tyr731fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant X5 XM_047429677.1:c.2109_211…

XM_047429677.1:c.2109_2110del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform X3 XP_047285633.1:p.Tyr704fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant X9 XM_011538854.3:c.1116_111…

XM_011538854.3:c.1116_1117del

V [GTGTA] > V [GTAT] Coding Sequence Variant
rasGAP-activating-like protein 1 isoform X6 XP_011537156.1:p.Tyr373fs V (Val) > V (Val) Frameshift Variant
RASAL1 transcript variant X7 XR_007063139.1:n.2646GT[1] 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.

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 ACAC= delAC
GRCh38.p14 chr 12 NC_000012.12:g.113101923_113101926= NC_000012.12:g.113101923AC[1]
GRCh37.p13 chr 12 NC_000012.11:g.113539728_113539731= NC_000012.11:g.113539728AC[1]
RASAL1 RefSeqGene NG_047089.1:g.39314_39317= NG_047089.1:g.39314GT[1]
RASAL1 transcript variant 2 NM_004658.3:c.2185_2188= NM_004658.3:c.2187_2188del
RASAL1 transcript variant 2 NM_004658.2:c.2185_2188= NM_004658.2:c.2187_2188del
RASAL1 transcript variant 3 NM_001193521.3:c.2101_2104= NM_001193521.3:c.2103_2104del
RASAL1 transcript variant 3 NM_001193521.2:c.2101_2104= NM_001193521.2:c.2103_2104del
RASAL1 transcript variant 3 NM_001193521.1:c.2101_2104= NM_001193521.1:c.2103_2104del
RASAL1 transcript variant 1 NM_001193520.2:c.2191_2194= NM_001193520.2:c.2193_2194del
RASAL1 transcript variant 1 NM_001193520.1:c.2191_2194= NM_001193520.1:c.2193_2194del
RASAL1 transcript variant 4 NM_001301202.2:c.2188_2191= NM_001301202.2:c.2190_2191del
RASAL1 transcript variant 4 NM_001301202.1:c.2188_2191= NM_001301202.1:c.2190_2191del
RASAL1 transcript variant 7 NM_001394083.1:c.2188_2191= NM_001394083.1:c.2190_2191del
RASAL1 transcript variant 5 NM_001394081.1:c.2191_2194= NM_001394081.1:c.2193_2194del
RASAL1 transcript variant 6 NM_001394082.1:c.2188_2191= NM_001394082.1:c.2190_2191del
RASAL1 transcript variant 9 NM_001394085.1:c.2185_2188= NM_001394085.1:c.2187_2188del
RASAL1 transcript variant 10 NM_001394086.1:c.2104_2107= NM_001394086.1:c.2106_2107del
RASAL1 transcript variant 8 NM_001394084.1:c.2188_2191= NM_001394084.1:c.2190_2191del
RASAL1 transcript variant 11 NM_001394087.1:c.1999_2002= NM_001394087.1:c.2001_2002del
RASAL1 transcript variant 12 NM_001394088.1:c.1825_1828= NM_001394088.1:c.1827_1828del
RASAL1 transcript variant 13 NM_001394089.1:c.1522_1525= NM_001394089.1:c.1524_1525del
RASAL1 transcript variant X1 XM_005253950.5:c.2191_2194= XM_005253950.5:c.2193_2194del
RASAL1 transcript variant X2 XM_005253950.4:c.2191_2194= XM_005253950.4:c.2193_2194del
RASAL1 transcript variant X2 XM_005253950.3:c.2191_2194= XM_005253950.3:c.2193_2194del
RASAL1 transcript variant X1 XM_005253950.2:c.2191_2194= XM_005253950.2:c.2193_2194del
RASAL1 transcript variant X1 XM_005253950.1:c.2191_2194= XM_005253950.1:c.2193_2194del
RASAL1 transcript variant X4 XM_006719642.4:c.2188_2191= XM_006719642.4:c.2190_2191del
RASAL1 transcript variant X5 XM_006719642.3:c.2188_2191= XM_006719642.3:c.2190_2191del
RASAL1 transcript variant X4 XM_006719642.2:c.2188_2191= XM_006719642.2:c.2190_2191del
RASAL1 transcript variant X4 XM_006719642.1:c.2188_2191= XM_006719642.1:c.2190_2191del
RASAL1 transcript variant X2 XM_006719641.4:c.2191_2194= XM_006719641.4:c.2193_2194del
RASAL1 transcript variant X3 XM_006719641.3:c.2191_2194= XM_006719641.3:c.2193_2194del
RASAL1 transcript variant X3 XM_006719641.2:c.2191_2194= XM_006719641.2:c.2193_2194del
RASAL1 transcript variant X3 XM_006719641.1:c.2191_2194= XM_006719641.1:c.2193_2194del
RASAL1 transcript variant X9 XM_011538854.3:c.1114_1117= XM_011538854.3:c.1116_1117del
RASAL1 transcript variant X13 XM_011538854.2:c.1114_1117= XM_011538854.2:c.1116_1117del
RASAL1 transcript variant X8 XM_011538854.1:c.1114_1117= XM_011538854.1:c.1116_1117del
RASAL1 transcript variant X8 XM_047429679.1:c.*1155_*1158= XM_047429679.1:c.*1155GT[1]
RASAL1 transcript variant X6 XM_047429678.1:c.*1155_*1158= XM_047429678.1:c.*1155GT[1]
RASAL1 transcript variant X5 XM_047429677.1:c.2107_2110= XM_047429677.1:c.2109_2110del
RASAL1 transcript variant X3 XM_047429676.1:c.2191_2194= XM_047429676.1:c.2193_2194del
RASAL1 transcript variant X7 XR_007063139.1:n.2646_2649= XR_007063139.1:n.2646GT[1]
rasGAP-activating-like protein 1 isoform 2 NP_004649.2:p.Val729_Tyr730= NP_004649.2:p.Tyr730fs
rasGAP-activating-like protein 1 isoform 3 NP_001180450.1:p.Val701_Tyr702= NP_001180450.1:p.Tyr702fs
rasGAP-activating-like protein 1 isoform 1 NP_001180449.1:p.Val731_Tyr732= NP_001180449.1:p.Tyr732fs
rasGAP-activating-like protein 1 isoform 4 NP_001288131.1:p.Val730_Tyr731= NP_001288131.1:p.Tyr731fs
rasGAP-activating-like protein 1 isoform 4 NP_001381012.1:p.Val730_Tyr731= NP_001381012.1:p.Tyr731fs
rasGAP-activating-like protein 1 isoform 1 NP_001381010.1:p.Val731_Tyr732= NP_001381010.1:p.Tyr732fs
rasGAP-activating-like protein 1 isoform 4 NP_001381011.1:p.Val730_Tyr731= NP_001381011.1:p.Tyr731fs
rasGAP-activating-like protein 1 isoform 2 NP_001381014.1:p.Val729_Tyr730= NP_001381014.1:p.Tyr730fs
rasGAP-activating-like protein 1 isoform 5 NP_001381015.1:p.Val702_Tyr703= NP_001381015.1:p.Tyr703fs
rasGAP-activating-like protein 1 isoform 4 NP_001381013.1:p.Val730_Tyr731= NP_001381013.1:p.Tyr731fs
rasGAP-activating-like protein 1 isoform 6 NP_001381016.1:p.Val667_Tyr668= NP_001381016.1:p.Tyr668fs
rasGAP-activating-like protein 1 isoform 7 NP_001381017.1:p.Val609_Tyr610= NP_001381017.1:p.Tyr610fs
rasGAP-activating-like protein 1 isoform 8 NP_001381018.1:p.Val508_Tyr509= NP_001381018.1:p.Tyr509fs
rasGAP-activating-like protein 1 isoform X1 XP_005254007.1:p.Val731_Tyr732= XP_005254007.1:p.Tyr732fs
rasGAP-activating-like protein 1 isoform X2 XP_006719705.1:p.Val730_Tyr731= XP_006719705.1:p.Tyr731fs
rasGAP-activating-like protein 1 isoform X1 XP_006719704.1:p.Val731_Tyr732= XP_006719704.1:p.Tyr732fs
rasGAP-activating-like protein 1 isoform X6 XP_011537156.1:p.Val372_Tyr373= XP_011537156.1:p.Tyr373fs
rasGAP-activating-like protein 1 isoform X3 XP_047285633.1:p.Val703_Tyr704= XP_047285633.1:p.Tyr704fs
rasGAP-activating-like protein 1 isoform X1 XP_047285632.1:p.Val731_Tyr732= XP_047285632.1:p.Tyr732fs
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 ss2748967019 Nov 08, 2017 (151)
2 GNOMAD ss2915343224 Nov 08, 2017 (151)
3 gnomAD - Genomes NC_000012.12 - 113101923 Apr 26, 2021 (155)
4 ALFA NC_000012.12 - 113101923 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
ss2748967019, ss2915343224 NC_000012.11:113539727:AC: NC_000012.12:113101922:ACAC:AC (self)
419760717 NC_000012.12:113101922:AC: NC_000012.12:113101922:ACAC:AC (self)
7352289336 NC_000012.12:113101922:ACAC:AC NC_000012.12:113101922:ACAC:AC (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 rs1468650329

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