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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.

rs1488640330

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:178445636 (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
G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
C=0.000004 (1/250568, GnomAD_exome)
C=0.000007 (1/140204, GnomAD) (+ 1 more)
C=0.00000 (0/14420, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RASAL2 : 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 14420 G=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 9824 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2946 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 G=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2832 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 G=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 684 G=1.000 C=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
TopMed Global Study-wide 264690 G=0.999996 C=0.000004
gnomAD - Exomes Global Study-wide 250568 G=0.999996 C=0.000004
gnomAD - Exomes European Sub 135004 G=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 48778 G=1.00000 C=0.00000
gnomAD - Exomes American Sub 34396 G=1.00000 C=0.00000
gnomAD - Exomes African Sub 16228 G=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10060 G=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6102 G=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140204 G=0.999993 C=0.000007
gnomAD - Genomes European Sub 75938 G=0.99999 C=0.00001
gnomAD - Genomes African Sub 42000 G=1.00000 C=0.00000
gnomAD - Genomes American Sub 13660 G=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3130 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2152 G=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 14420 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9824 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2946 G=1.0000 C=0.0000
Allele Frequency Aggregator Other Sub 684 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 C=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 1 NC_000001.11:g.178445636G>C
GRCh37.p13 chr 1 NC_000001.10:g.178414771G>C
RASAL2 RefSeqGene NG_047109.1:g.356908G>C
Gene: RASAL2, RAS protein activator like 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RASAL2 transcript variant 2 NM_170692.4:c.1601G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform 2 NP_733793.2:p.Gly534Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant 1 NM_004841.5:c.1157G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform 1 NP_004832.1:p.Gly386Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X1 XM_017002849.2:c.1988G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X1 XP_016858338.1:p.Gly663Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X2 XM_017002850.2:c.1988G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X2 XP_016858339.1:p.Gly663Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X3 XM_017002851.2:c.1988G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X3 XP_016858340.1:p.Gly663Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X4 XM_017002852.2:c.1988G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X4 XP_016858341.1:p.Gly663Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X5 XM_011510166.3:c.1601G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X5 XP_011508468.1:p.Gly534Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X6 XM_011510167.3:c.1601G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X6 XP_011508469.1:p.Gly534Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X7 XM_047434837.1:c.1601G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X7 XP_047290793.1:p.Gly534Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X8 XM_017002853.2:c.1433G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X8 XP_016858342.1:p.Gly478Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X9 XM_047434838.1:c.1352G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X9 XP_047290794.1:p.Gly451Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X10 XM_047434839.1:c.1250G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X10 XP_047290795.1:p.Gly417Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X11 XM_017002854.2:c.1166G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X11 XP_016858343.1:p.Gly389Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X12 XM_047434849.1:c.1166G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X12 XP_047290805.1:p.Gly389Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X13 XM_005245622.5:c.1157G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X13 XP_005245679.1:p.Gly386Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X14 XM_017002855.2:c.1166G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X14 XP_016858344.1:p.Gly389Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X15 XM_047434857.1:c.1166G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X15 XP_047290813.1:p.Gly389Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X16 XM_047434859.1:c.1157G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X16 XP_047290815.1:p.Gly386Ala G (Gly) > A (Ala) Missense Variant
RASAL2 transcript variant X17 XM_047434860.1:c.1157G>C G [GGA] > A [GCA] Coding Sequence Variant
ras GTPase-activating protein nGAP isoform X17 XP_047290816.1:p.Gly386Ala G (Gly) > A (Ala) 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 G= C
GRCh38.p14 chr 1 NC_000001.11:g.178445636= NC_000001.11:g.178445636G>C
GRCh37.p13 chr 1 NC_000001.10:g.178414771= NC_000001.10:g.178414771G>C
RASAL2 RefSeqGene NG_047109.1:g.356908= NG_047109.1:g.356908G>C
RASAL2 transcript variant 1 NM_004841.5:c.1157= NM_004841.5:c.1157G>C
RASAL2 transcript variant 1 NM_004841.4:c.1157= NM_004841.4:c.1157G>C
RASAL2 transcript variant 1 NM_004841.3:c.1157= NM_004841.3:c.1157G>C
RASAL2 transcript variant 2 NM_170692.4:c.1601= NM_170692.4:c.1601G>C
RASAL2 transcript variant 2 NM_170692.3:c.1601= NM_170692.3:c.1601G>C
RASAL2 transcript variant 2 NM_170692.2:c.1601= NM_170692.2:c.1601G>C
RASAL2 transcript variant X13 XM_005245622.5:c.1157= XM_005245622.5:c.1157G>C
RASAL2 transcript variant X9 XM_005245622.4:c.1157= XM_005245622.4:c.1157G>C
RASAL2 transcript variant X9 XM_005245622.3:c.1157= XM_005245622.3:c.1157G>C
RASAL2 transcript variant X5 XM_005245622.2:c.1157= XM_005245622.2:c.1157G>C
RASAL2 transcript variant X4 XM_005245622.1:c.1157= XM_005245622.1:c.1157G>C
RASAL2 transcript variant X5 XM_011510166.3:c.1601= XM_011510166.3:c.1601G>C
RASAL2 transcript variant X5 XM_011510166.2:c.1601= XM_011510166.2:c.1601G>C
RASAL2 transcript variant X1 XM_011510166.1:c.1601= XM_011510166.1:c.1601G>C
RASAL2 transcript variant X6 XM_011510167.3:c.1601= XM_011510167.3:c.1601G>C
RASAL2 transcript variant X6 XM_011510167.2:c.1601= XM_011510167.2:c.1601G>C
RASAL2 transcript variant X2 XM_011510167.1:c.1601= XM_011510167.1:c.1601G>C
RASAL2 transcript variant X11 XM_017002854.2:c.1166= XM_017002854.2:c.1166G>C
RASAL2 transcript variant X8 XM_017002854.1:c.1166= XM_017002854.1:c.1166G>C
RASAL2 transcript variant X14 XM_017002855.2:c.1166= XM_017002855.2:c.1166G>C
RASAL2 transcript variant X10 XM_017002855.1:c.1166= XM_017002855.1:c.1166G>C
RASAL2 transcript variant X1 XM_017002849.2:c.1988= XM_017002849.2:c.1988G>C
RASAL2 transcript variant X1 XM_017002849.1:c.1988= XM_017002849.1:c.1988G>C
RASAL2 transcript variant X3 XM_017002851.2:c.1988= XM_017002851.2:c.1988G>C
RASAL2 transcript variant X3 XM_017002851.1:c.1988= XM_017002851.1:c.1988G>C
RASAL2 transcript variant X2 XM_017002850.2:c.1988= XM_017002850.2:c.1988G>C
RASAL2 transcript variant X2 XM_017002850.1:c.1988= XM_017002850.1:c.1988G>C
RASAL2 transcript variant X4 XM_017002852.2:c.1988= XM_017002852.2:c.1988G>C
RASAL2 transcript variant X4 XM_017002852.1:c.1988= XM_017002852.1:c.1988G>C
RASAL2 transcript variant X8 XM_017002853.2:c.1433= XM_017002853.2:c.1433G>C
RASAL2 transcript variant X7 XM_017002853.1:c.1433= XM_017002853.1:c.1433G>C
RASAL2 transcript variant X12 XM_047434849.1:c.1166= XM_047434849.1:c.1166G>C
RASAL2 transcript variant X15 XM_047434857.1:c.1166= XM_047434857.1:c.1166G>C
RASAL2 transcript variant X10 XM_047434839.1:c.1250= XM_047434839.1:c.1250G>C
RASAL2 transcript variant X7 XM_047434837.1:c.1601= XM_047434837.1:c.1601G>C
RASAL2 transcript variant X9 XM_047434838.1:c.1352= XM_047434838.1:c.1352G>C
RASAL2 transcript variant X16 XM_047434859.1:c.1157= XM_047434859.1:c.1157G>C
RASAL2 transcript variant X17 XM_047434860.1:c.1157= XM_047434860.1:c.1157G>C
ras GTPase-activating protein nGAP isoform 1 NP_004832.1:p.Gly386= NP_004832.1:p.Gly386Ala
ras GTPase-activating protein nGAP isoform 2 NP_733793.2:p.Gly534= NP_733793.2:p.Gly534Ala
ras GTPase-activating protein nGAP isoform X13 XP_005245679.1:p.Gly386= XP_005245679.1:p.Gly386Ala
ras GTPase-activating protein nGAP isoform X5 XP_011508468.1:p.Gly534= XP_011508468.1:p.Gly534Ala
ras GTPase-activating protein nGAP isoform X6 XP_011508469.1:p.Gly534= XP_011508469.1:p.Gly534Ala
ras GTPase-activating protein nGAP isoform X11 XP_016858343.1:p.Gly389= XP_016858343.1:p.Gly389Ala
ras GTPase-activating protein nGAP isoform X14 XP_016858344.1:p.Gly389= XP_016858344.1:p.Gly389Ala
ras GTPase-activating protein nGAP isoform X1 XP_016858338.1:p.Gly663= XP_016858338.1:p.Gly663Ala
ras GTPase-activating protein nGAP isoform X3 XP_016858340.1:p.Gly663= XP_016858340.1:p.Gly663Ala
ras GTPase-activating protein nGAP isoform X2 XP_016858339.1:p.Gly663= XP_016858339.1:p.Gly663Ala
ras GTPase-activating protein nGAP isoform X4 XP_016858341.1:p.Gly663= XP_016858341.1:p.Gly663Ala
ras GTPase-activating protein nGAP isoform X8 XP_016858342.1:p.Gly478= XP_016858342.1:p.Gly478Ala
ras GTPase-activating protein nGAP isoform X12 XP_047290805.1:p.Gly389= XP_047290805.1:p.Gly389Ala
ras GTPase-activating protein nGAP isoform X15 XP_047290813.1:p.Gly389= XP_047290813.1:p.Gly389Ala
ras GTPase-activating protein nGAP isoform X10 XP_047290795.1:p.Gly417= XP_047290795.1:p.Gly417Ala
ras GTPase-activating protein nGAP isoform X7 XP_047290793.1:p.Gly534= XP_047290793.1:p.Gly534Ala
ras GTPase-activating protein nGAP isoform X9 XP_047290794.1:p.Gly451= XP_047290794.1:p.Gly451Ala
ras GTPase-activating protein nGAP isoform X16 XP_047290815.1:p.Gly386= XP_047290815.1:p.Gly386Ala
ras GTPase-activating protein nGAP isoform X17 XP_047290816.1:p.Gly386= XP_047290816.1:p.Gly386Ala
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2732082123 Nov 08, 2017 (151)
2 GNOMAD ss4006589607 Apr 25, 2021 (155)
3 TOPMED ss4474140637 Apr 25, 2021 (155)
4 gnomAD - Genomes NC_000001.11 - 178445636 Apr 25, 2021 (155)
5 gnomAD - Exomes NC_000001.10 - 178414771 Jul 12, 2019 (153)
6 TopMed NC_000001.11 - 178445636 Apr 25, 2021 (155)
7 ALFA NC_000001.11 - 178445636 Apr 25, 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
1111745, ss2732082123 NC_000001.10:178414770:G:C NC_000001.11:178445635:G:C (self)
31819991, 37746972, 147535675, ss4006589607, ss4474140637 NC_000001.11:178445635:G:C NC_000001.11:178445635: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 rs1488640330

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