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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.

rs368786234

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:155239962 (GRCh38.p13) 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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000034 (9/264690, TOPMED)
T=0.000008 (2/251348, GnomAD_exome)
T=0.000036 (5/140162, GnomAD) (+ 4 more)
T=0.000017 (2/121172, ExAC)
C=0.00000 (0/14048, ALFA)
T=0.00000 (0/14048, ALFA)
T=0.00008 (1/13006, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GBA : Missense 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.p13 chr 1 NC_000001.11:g.155239962G>C
GRCh38.p13 chr 1 NC_000001.11:g.155239962G>T
GRCh37.p13 chr 1 NC_000001.10:g.155209753G>C
GRCh37.p13 chr 1 NC_000001.10:g.155209753G>T
GBA RefSeqGene NG_009783.1:g.9736C>G
GBA RefSeqGene NG_009783.1:g.9736C>A
LOC106627981 genomic region NG_042867.1:g.6424G>C
LOC106627981 genomic region NG_042867.1:g.6424G>T
GRCh38.p13 chr 1 alt locus HSCHR1_2_CTG31 NW_003315906.1:g.44985G>C
GRCh38.p13 chr 1 alt locus HSCHR1_2_CTG31 NW_003315906.1:g.44985G>T
Gene: GBA, glucosylceramidase beta (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GBA transcript variant 4 NM_001171811.2:c.-31= N/A 5 Prime UTR Variant
GBA transcript variant 1 NM_000157.4:c.231C>G S [AGC] > R [AGG] Coding Sequence Variant
lysosomal acid glucosylceramidase isoform 1 precursor NP_000148.2:p.Ser77Arg S (Ser) > R (Arg) Missense Variant
GBA transcript variant 1 NM_000157.4:c.231C>A S [AGC] > R [AGA] Coding Sequence Variant
lysosomal acid glucosylceramidase isoform 1 precursor NP_000148.2:p.Ser77Arg S (Ser) > R (Arg) Missense Variant
GBA transcript variant 5 NM_001171812.2:c.231C>G S [AGC] > R [AGG] Coding Sequence Variant
lysosomal acid glucosylceramidase isoform 3 NP_001165283.1:p.Ser77Arg S (Ser) > R (Arg) Missense Variant
GBA transcript variant 5 NM_001171812.2:c.231C>A S [AGC] > R [AGA] Coding Sequence Variant
lysosomal acid glucosylceramidase isoform 3 NP_001165283.1:p.Ser77Arg S (Ser) > R (Arg) Missense Variant
GBA transcript variant 2 NM_001005741.3:c.231C>G S [AGC] > R [AGG] Coding Sequence Variant
lysosomal acid glucosylceramidase isoform 1 precursor NP_001005741.1:p.Ser77Arg S (Ser) > R (Arg) Missense Variant
GBA transcript variant 2 NM_001005741.3:c.231C>A S [AGC] > R [AGA] Coding Sequence Variant
lysosomal acid glucosylceramidase isoform 1 precursor NP_001005741.1:p.Ser77Arg S (Ser) > R (Arg) Missense Variant
GBA transcript variant 3 NM_001005742.3:c.231C>G S [AGC] > R [AGG] Coding Sequence Variant
lysosomal acid glucosylceramidase isoform 1 precursor NP_001005742.1:p.Ser77Arg S (Ser) > R (Arg) Missense Variant
GBA transcript variant 3 NM_001005742.3:c.231C>A S [AGC] > R [AGA] Coding Sequence Variant
lysosomal acid glucosylceramidase isoform 1 precursor NP_001005742.1:p.Ser77Arg S (Ser) > R (Arg) 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 14048 G=1.00000 C=0.00000, T=0.00000
European Sub 9690 G=1.0000 C=0.0000, T=0.0000
African Sub 2896 G=1.0000 C=0.0000, T=0.0000
African Others Sub 114 G=1.000 C=0.000, T=0.000
African American Sub 2782 G=1.0000 C=0.0000, T=0.0000
Asian Sub 112 G=1.000 C=0.000, T=0.000
East Asian Sub 86 G=1.00 C=0.00, T=0.00
Other Asian Sub 26 G=1.00 C=0.00, T=0.00
Latin American 1 Sub 146 G=1.000 C=0.000, T=0.000
Latin American 2 Sub 610 G=1.000 C=0.000, T=0.000
South Asian Sub 98 G=1.00 C=0.00, T=0.00
Other Sub 496 G=1.000 C=0.000, T=0.000


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=0.999966 T=0.000034
gnomAD - Exomes Global Study-wide 251348 G=0.999992 T=0.000008
gnomAD - Exomes European Sub 135322 G=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 49002 G=1.00000 T=0.00000
gnomAD - Exomes American Sub 34572 G=1.00000 T=0.00000
gnomAD - Exomes African Sub 16250 G=0.99988 T=0.00012
gnomAD - Exomes Ashkenazi Jewish Sub 10074 G=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6128 G=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140162 G=0.999964 T=0.000036
gnomAD - Genomes European Sub 75926 G=1.00000 T=0.00000
gnomAD - Genomes African Sub 41980 G=0.99988 T=0.00012
gnomAD - Genomes American Sub 13652 G=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2148 G=1.0000 T=0.0000
ExAC Global Study-wide 121172 G=0.999983 T=0.000017
ExAC Europe Sub 73202 G=1.00000 T=0.00000
ExAC Asian Sub 25152 G=1.00000 T=0.00000
ExAC American Sub 11544 G=1.00000 T=0.00000
ExAC African Sub 10372 G=0.99981 T=0.00019
ExAC Other Sub 902 G=1.000 T=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8600 G=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 4406 G=0.9998 T=0.0002
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 T
GRCh38.p13 chr 1 NC_000001.11:g.155239962= NC_000001.11:g.155239962G>C NC_000001.11:g.155239962G>T
GRCh37.p13 chr 1 NC_000001.10:g.155209753= NC_000001.10:g.155209753G>C NC_000001.10:g.155209753G>T
GBA RefSeqGene NG_009783.1:g.9736= NG_009783.1:g.9736C>G NG_009783.1:g.9736C>A
GBA transcript variant 1 NM_000157.4:c.231= NM_000157.4:c.231C>G NM_000157.4:c.231C>A
GBA transcript variant 1 NM_000157.3:c.231= NM_000157.3:c.231C>G NM_000157.3:c.231C>A
GBA transcript variant 2 NM_001005741.3:c.231= NM_001005741.3:c.231C>G NM_001005741.3:c.231C>A
GBA transcript variant 2 NM_001005741.2:c.231= NM_001005741.2:c.231C>G NM_001005741.2:c.231C>A
GBA transcript variant 3 NM_001005742.3:c.231= NM_001005742.3:c.231C>G NM_001005742.3:c.231C>A
GBA transcript variant 3 NM_001005742.2:c.231= NM_001005742.2:c.231C>G NM_001005742.2:c.231C>A
GBA transcript variant 4 NM_001171811.2:c.-31= NM_001171811.2:c.-31C>G NM_001171811.2:c.-31C>A
GBA transcript variant 4 NM_001171811.1:c.-31= NM_001171811.1:c.-31C>G NM_001171811.1:c.-31C>A
GBA transcript variant 5 NM_001171812.2:c.231= NM_001171812.2:c.231C>G NM_001171812.2:c.231C>A
GBA transcript variant 5 NM_001171812.1:c.231= NM_001171812.1:c.231C>G NM_001171812.1:c.231C>A
LOC106627981 genomic region NG_042867.1:g.6424= NG_042867.1:g.6424G>C NG_042867.1:g.6424G>T
GRCh38.p13 chr 1 alt locus HSCHR1_2_CTG31 NW_003315906.1:g.44985= NW_003315906.1:g.44985G>C NW_003315906.1:g.44985G>T
GBA transcript variant 4 NM_001005749.1:c.231= NM_001005749.1:c.231C>G NM_001005749.1:c.231C>A
GBA transcript variant 5 NM_001005750.1:c.231= NM_001005750.1:c.231C>G NM_001005750.1:c.231C>A
lysosomal acid glucosylceramidase isoform 1 precursor NP_000148.2:p.Ser77= NP_000148.2:p.Ser77Arg NP_000148.2:p.Ser77Arg
lysosomal acid glucosylceramidase isoform 1 precursor NP_001005741.1:p.Ser77= NP_001005741.1:p.Ser77Arg NP_001005741.1:p.Ser77Arg
lysosomal acid glucosylceramidase isoform 1 precursor NP_001005742.1:p.Ser77= NP_001005742.1:p.Ser77Arg NP_001005742.1:p.Ser77Arg
lysosomal acid glucosylceramidase isoform 3 NP_001165283.1:p.Ser77= NP_001165283.1:p.Ser77Arg NP_001165283.1:p.Ser77Arg
GBA transcript variant X1 XM_005245087.1:c.115+668= XM_005245087.1:c.115+668C>G XM_005245087.1:c.115+668C>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#.

10 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss712348134 Apr 25, 2013 (138)
2 EVA_EXAC ss1685816030 Apr 01, 2015 (144)
3 TOPMED ss2329083336 Dec 20, 2016 (150)
4 GNOMAD ss2731909224 Nov 08, 2017 (151)
5 GNOMAD ss2746455448 Nov 08, 2017 (151)
6 GNOMAD ss2761366318 Nov 08, 2017 (151)
7 TOPMED ss3092260250 Nov 08, 2017 (151)
8 TOPMED ss3092260251 Nov 08, 2017 (151)
9 EVA ss3823665158 Apr 25, 2020 (154)
10 TOPMED ss4468460237 Apr 25, 2021 (155)
11 ExAC NC_000001.10 - 155209753 Oct 11, 2018 (152)
12 gnomAD - Genomes NC_000001.11 - 155239962 Apr 25, 2021 (155)
13 gnomAD - Exomes NC_000001.10 - 155209753 Jul 12, 2019 (153)
14 GO Exome Sequencing Project NC_000001.10 - 155209753 Oct 11, 2018 (152)
15 TopMed NC_000001.11 - 155239962 Apr 25, 2021 (155)
16 ALFA NC_000001.11 - 155239962 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
20131194, 8927589427, ss3092260250 NC_000001.11:155239961:G:C NC_000001.11:155239961:G:C (self)
5035448, 932208, 123744, ss712348134, ss1685816030, ss2329083336, ss2731909224, ss2746455448, ss2761366318, ss3823665158 NC_000001.10:155209752:G:T NC_000001.11:155239961:G:T (self)
27181349, 20131194, 32066572, 8927589427, ss3092260251, ss4468460237 NC_000001.11:155239961:G:T NC_000001.11:155239961:G: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 rs368786234

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.post596+ae089ad