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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.

rs34520362

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:80213874 (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>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00075 (41/54872, ALFA)
A=0.00524 (68/12988, GO-ESP)
A=0.0072 (46/6404, 1000G_30x) (+ 4 more)
A=0.0070 (35/5008, 1000G)
A=0.005 (1/216, Qatari)
G=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SGSH : Missense Variant
Publications
1 citation
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 70408 G=0.99817 A=0.00183, C=0.00000, T=0.00000
European Sub 47954 G=0.99992 A=0.00008, C=0.00000, T=0.00000
African Sub 9784 G=0.9888 A=0.0112, C=0.0000, T=0.0000
African Others Sub 354 G=0.977 A=0.023, C=0.000, T=0.000
African American Sub 9430 G=0.9892 A=0.0108, C=0.0000, T=0.0000
Asian Sub 204 G=1.000 A=0.000, C=0.000, T=0.000
East Asian Sub 140 G=1.000 A=0.000, C=0.000, T=0.000
Other Asian Sub 64 G=1.00 A=0.00, C=0.00, T=0.00
Latin American 1 Sub 820 G=0.998 A=0.002, C=0.000, T=0.000
Latin American 2 Sub 682 G=1.000 A=0.000, C=0.000, T=0.000
South Asian Sub 144 G=1.000 A=0.000, C=0.000, T=0.000
Other Sub 10820 G=0.99880 A=0.00120, C=0.00000, T=0.00000


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
Allele Frequency Aggregator Total Global 54872 G=0.99925 A=0.00075, C=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 38472 G=0.99995 A=0.00005, C=0.00000, T=0.00000
Allele Frequency Aggregator Other Sub 9486 G=0.9994 A=0.0006, C=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 5064 G=0.9939 A=0.0061, C=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 820 G=0.998 A=0.002, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 682 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 204 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 144 G=1.000 A=0.000, C=0.000, T=0.000
GO Exome Sequencing Project Global Study-wide 12988 G=0.99476 A=0.00524
GO Exome Sequencing Project European American Sub 8594 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4394 G=0.9845 A=0.0155
1000Genomes_30x Global Study-wide 6404 G=0.9928 A=0.0072
1000Genomes_30x African Sub 1786 G=0.9787 A=0.0213
1000Genomes_30x Europe Sub 1266 G=0.9992 A=0.0008
1000Genomes_30x South Asian Sub 1202 G=0.9992 A=0.0008
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.994 A=0.006
1000Genomes Global Study-wide 5008 G=0.9930 A=0.0070
1000Genomes African Sub 1322 G=0.9773 A=0.0227
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=0.999 A=0.001
1000Genomes American Sub 694 G=0.996 A=0.004
Qatari Global Study-wide 216 G=0.995 A=0.005
SGDP_PRJ Global Study-wide 2 G=0.5 A=0.5
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.80213874G>A
GRCh38.p14 chr 17 NC_000017.11:g.80213874G>C
GRCh38.p14 chr 17 NC_000017.11:g.80213874G>T
GRCh37.p13 chr 17 NC_000017.10:g.78187673G>A
GRCh37.p13 chr 17 NC_000017.10:g.78187673G>C
GRCh37.p13 chr 17 NC_000017.10:g.78187673G>T
SGSH RefSeqGene NG_008229.1:g.11527C>T
SGSH RefSeqGene NG_008229.1:g.11527C>G
SGSH RefSeqGene NG_008229.1:g.11527C>A
Gene: SGSH, N-sulfoglucosamine sulfohydrolase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SGSH transcript variant 1 NM_000199.5:c.675C>T F [TTC] > F [TTT] Coding Sequence Variant
N-sulphoglucosamine sulphohydrolase isoform 1 precursor NP_000190.1:p.Phe225= F (Phe) > F (Phe) Synonymous Variant
SGSH transcript variant 1 NM_000199.5:c.675C>G F [TTC] > L [TTG] Coding Sequence Variant
N-sulphoglucosamine sulphohydrolase isoform 1 precursor NP_000190.1:p.Phe225Leu F (Phe) > L (Leu) Missense Variant
SGSH transcript variant 1 NM_000199.5:c.675C>A F [TTC] > L [TTA] Coding Sequence Variant
N-sulphoglucosamine sulphohydrolase isoform 1 precursor NP_000190.1:p.Phe225Leu F (Phe) > L (Leu) Missense Variant
SGSH transcript variant 3 NM_001352922.2:c.675C>T F [TTC] > F [TTT] Coding Sequence Variant
N-sulphoglucosamine sulphohydrolase isoform 3 precursor NP_001339851.1:p.Phe225= F (Phe) > F (Phe) Synonymous Variant
SGSH transcript variant 3 NM_001352922.2:c.675C>G F [TTC] > L [TTG] Coding Sequence Variant
N-sulphoglucosamine sulphohydrolase isoform 3 precursor NP_001339851.1:p.Phe225Leu F (Phe) > L (Leu) Missense Variant
SGSH transcript variant 3 NM_001352922.2:c.675C>A F [TTC] > L [TTA] Coding Sequence Variant
N-sulphoglucosamine sulphohydrolase isoform 3 precursor NP_001339851.1:p.Phe225Leu F (Phe) > L (Leu) Missense Variant
SGSH transcript variant 2 NM_001352921.3:c.675C>T F [TTC] > F [TTT] Coding Sequence Variant
N-sulphoglucosamine sulphohydrolase isoform 2 precursor NP_001339850.1:p.Phe225= F (Phe) > F (Phe) Synonymous Variant
SGSH transcript variant 2 NM_001352921.3:c.675C>G F [TTC] > L [TTG] Coding Sequence Variant
N-sulphoglucosamine sulphohydrolase isoform 2 precursor NP_001339850.1:p.Phe225Leu F (Phe) > L (Leu) Missense Variant
SGSH transcript variant 2 NM_001352921.3:c.675C>A F [TTC] > L [TTA] Coding Sequence Variant
N-sulphoglucosamine sulphohydrolase isoform 2 precursor NP_001339850.1:p.Phe225Leu F (Phe) > L (Leu) Missense Variant
SGSH transcript variant 4 NR_148201.2:n.589C>T N/A Non Coding Transcript Variant
SGSH transcript variant 4 NR_148201.2:n.589C>G N/A Non Coding Transcript Variant
SGSH transcript variant 4 NR_148201.2:n.589C>A N/A Non Coding Transcript Variant
SGSH transcript variant X28 XM_011525126.2:c.675C>T F [TTC] > F [TTT] Coding Sequence Variant
N-sulphoglucosamine sulphohydrolase isoform X1 XP_011523428.1:p.Phe225= F (Phe) > F (Phe) Synonymous Variant
SGSH transcript variant X28 XM_011525126.2:c.675C>G F [TTC] > L [TTG] Coding Sequence Variant
N-sulphoglucosamine sulphohydrolase isoform X1 XP_011523428.1:p.Phe225Leu F (Phe) > L (Leu) Missense Variant
SGSH transcript variant X28 XM_011525126.2:c.675C>A F [TTC] > L [TTA] Coding Sequence Variant
N-sulphoglucosamine sulphohydrolase isoform X1 XP_011523428.1:p.Phe225Leu F (Phe) > L (Leu) Missense Variant
SGSH transcript variant X1 XR_001752585.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X1 XR_001752585.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X1 XR_001752585.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X2 XR_007065401.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X2 XR_007065401.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X2 XR_007065401.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X3 XR_934532.3:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X3 XR_934532.3:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X3 XR_934532.3:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X4 XR_007065402.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X4 XR_007065402.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X4 XR_007065402.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X5 XR_007065403.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X5 XR_007065403.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X5 XR_007065403.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X6 XR_007065404.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X6 XR_007065404.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X6 XR_007065404.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X7 XR_007065405.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X7 XR_007065405.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X7 XR_007065405.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X8 XR_007065406.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X8 XR_007065406.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X8 XR_007065406.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X9 XR_007065407.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X9 XR_007065407.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X9 XR_007065407.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X10 XR_007065408.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X10 XR_007065408.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X10 XR_007065408.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X11 XR_007065409.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X11 XR_007065409.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X11 XR_007065409.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X12 XR_007065410.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X12 XR_007065410.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X12 XR_007065410.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X13 XR_007065411.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X13 XR_007065411.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X13 XR_007065411.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X14 XR_001752590.2:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X14 XR_001752590.2:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X14 XR_001752590.2:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X15 XR_007065412.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X15 XR_007065412.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X15 XR_007065412.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X16 XR_007065413.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X16 XR_007065413.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X16 XR_007065413.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X17 XR_007065414.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X17 XR_007065414.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X17 XR_007065414.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X18 XR_007065415.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X18 XR_007065415.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X18 XR_007065415.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X19 XR_007065416.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X19 XR_007065416.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X19 XR_007065416.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X20 XR_007065417.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X20 XR_007065417.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X20 XR_007065417.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X21 XR_007065418.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X21 XR_007065418.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X21 XR_007065418.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X22 XR_007065419.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X22 XR_007065419.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X22 XR_007065419.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X23 XR_007065420.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X23 XR_007065420.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X23 XR_007065420.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X24 XR_007065421.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X24 XR_007065421.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X24 XR_007065421.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X25 XR_007065422.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X25 XR_007065422.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X25 XR_007065422.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X26 XR_007065423.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X26 XR_007065423.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X26 XR_007065423.1:n.695C>A N/A Non Coding Transcript Variant
SGSH transcript variant X27 XR_007065424.1:n.695C>T N/A Non Coding Transcript Variant
SGSH transcript variant X27 XR_007065424.1:n.695C>G N/A Non Coding Transcript Variant
SGSH transcript variant X27 XR_007065424.1:n.695C>A 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.

Allele: A (allele ID: 532089 )
ClinVar Accession Disease Names Clinical Significance
RCV000633456.12 Mucopolysaccharidosis, MPS-III-A Benign
Allele: C (allele ID: 237044 )
ClinVar Accession Disease Names Clinical Significance
RCV000224603.2 not provided Pathogenic
RCV000675098.5 Mucopolysaccharidosis, MPS-III-A Conflicting-Interpretations-Of-Pathogenicity
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= A C T
GRCh38.p14 chr 17 NC_000017.11:g.80213874= NC_000017.11:g.80213874G>A NC_000017.11:g.80213874G>C NC_000017.11:g.80213874G>T
GRCh37.p13 chr 17 NC_000017.10:g.78187673= NC_000017.10:g.78187673G>A NC_000017.10:g.78187673G>C NC_000017.10:g.78187673G>T
SGSH RefSeqGene NG_008229.1:g.11527= NG_008229.1:g.11527C>T NG_008229.1:g.11527C>G NG_008229.1:g.11527C>A
SGSH transcript variant 1 NM_000199.5:c.675= NM_000199.5:c.675C>T NM_000199.5:c.675C>G NM_000199.5:c.675C>A
SGSH transcript variant 1 NM_000199.4:c.675= NM_000199.4:c.675C>T NM_000199.4:c.675C>G NM_000199.4:c.675C>A
SGSH transcript NM_000199.3:c.675= NM_000199.3:c.675C>T NM_000199.3:c.675C>G NM_000199.3:c.675C>A
SGSH transcript variant 2 NM_001352921.3:c.675= NM_001352921.3:c.675C>T NM_001352921.3:c.675C>G NM_001352921.3:c.675C>A
SGSH transcript variant 2 NM_001352921.2:c.675= NM_001352921.2:c.675C>T NM_001352921.2:c.675C>G NM_001352921.2:c.675C>A
SGSH transcript variant 2 NM_001352921.1:c.675= NM_001352921.1:c.675C>T NM_001352921.1:c.675C>G NM_001352921.1:c.675C>A
SGSH transcript variant 3 NM_001352922.2:c.675= NM_001352922.2:c.675C>T NM_001352922.2:c.675C>G NM_001352922.2:c.675C>A
SGSH transcript variant 3 NM_001352922.1:c.675= NM_001352922.1:c.675C>T NM_001352922.1:c.675C>G NM_001352922.1:c.675C>A
SGSH transcript variant 4 NR_148201.2:n.589= NR_148201.2:n.589C>T NR_148201.2:n.589C>G NR_148201.2:n.589C>A
SGSH transcript variant 4 NR_148201.1:n.656= NR_148201.1:n.656C>T NR_148201.1:n.656C>G NR_148201.1:n.656C>A
SGSH transcript variant X3 XR_934532.3:n.695= XR_934532.3:n.695C>T XR_934532.3:n.695C>G XR_934532.3:n.695C>A
SGSH transcript variant X2 XR_934532.2:n.695= XR_934532.2:n.695C>T XR_934532.2:n.695C>G XR_934532.2:n.695C>A
SGSH transcript variant X2 XR_934532.1:n.695= XR_934532.1:n.695C>T XR_934532.1:n.695C>G XR_934532.1:n.695C>A
SGSH transcript variant X14 XR_001752590.2:n.695= XR_001752590.2:n.695C>T XR_001752590.2:n.695C>G XR_001752590.2:n.695C>A
SGSH transcript variant X7 XR_001752590.1:n.695= XR_001752590.1:n.695C>T XR_001752590.1:n.695C>G XR_001752590.1:n.695C>A
SGSH transcript variant X28 XM_011525126.2:c.675= XM_011525126.2:c.675C>T XM_011525126.2:c.675C>G XM_011525126.2:c.675C>A
SGSH transcript variant X12 XM_011525126.1:c.675= XM_011525126.1:c.675C>T XM_011525126.1:c.675C>G XM_011525126.1:c.675C>A
SGSH transcript variant X18 XR_007065415.1:n.695= XR_007065415.1:n.695C>T XR_007065415.1:n.695C>G XR_007065415.1:n.695C>A
SGSH transcript variant X26 XR_007065423.1:n.695= XR_007065423.1:n.695C>T XR_007065423.1:n.695C>G XR_007065423.1:n.695C>A
SGSH transcript variant X20 XR_007065417.1:n.695= XR_007065417.1:n.695C>T XR_007065417.1:n.695C>G XR_007065417.1:n.695C>A
SGSH transcript variant X21 XR_007065418.1:n.695= XR_007065418.1:n.695C>T XR_007065418.1:n.695C>G XR_007065418.1:n.695C>A
SGSH transcript variant X6 XR_007065404.1:n.695= XR_007065404.1:n.695C>T XR_007065404.1:n.695C>G XR_007065404.1:n.695C>A
SGSH transcript variant X11 XR_007065409.1:n.695= XR_007065409.1:n.695C>T XR_007065409.1:n.695C>G XR_007065409.1:n.695C>A
SGSH transcript variant X24 XR_007065421.1:n.695= XR_007065421.1:n.695C>T XR_007065421.1:n.695C>G XR_007065421.1:n.695C>A
SGSH transcript variant X25 XR_007065422.1:n.695= XR_007065422.1:n.695C>T XR_007065422.1:n.695C>G XR_007065422.1:n.695C>A
SGSH transcript variant X23 XR_007065420.1:n.695= XR_007065420.1:n.695C>T XR_007065420.1:n.695C>G XR_007065420.1:n.695C>A
SGSH transcript variant X22 XR_007065419.1:n.695= XR_007065419.1:n.695C>T XR_007065419.1:n.695C>G XR_007065419.1:n.695C>A
SGSH transcript variant X9 XR_007065407.1:n.695= XR_007065407.1:n.695C>T XR_007065407.1:n.695C>G XR_007065407.1:n.695C>A
SGSH transcript variant X17 XR_007065414.1:n.695= XR_007065414.1:n.695C>T XR_007065414.1:n.695C>G XR_007065414.1:n.695C>A
SGSH transcript variant X7 XR_007065405.1:n.695= XR_007065405.1:n.695C>T XR_007065405.1:n.695C>G XR_007065405.1:n.695C>A
SGSH transcript variant X10 XR_007065408.1:n.695= XR_007065408.1:n.695C>T XR_007065408.1:n.695C>G XR_007065408.1:n.695C>A
SGSH transcript variant X19 XR_007065416.1:n.695= XR_007065416.1:n.695C>T XR_007065416.1:n.695C>G XR_007065416.1:n.695C>A
SGSH transcript variant X8 XR_007065406.1:n.695= XR_007065406.1:n.695C>T XR_007065406.1:n.695C>G XR_007065406.1:n.695C>A
SGSH transcript variant X27 XR_007065424.1:n.695= XR_007065424.1:n.695C>T XR_007065424.1:n.695C>G XR_007065424.1:n.695C>A
SGSH transcript variant X5 XR_007065403.1:n.695= XR_007065403.1:n.695C>T XR_007065403.1:n.695C>G XR_007065403.1:n.695C>A
SGSH transcript variant X12 XR_007065410.1:n.695= XR_007065410.1:n.695C>T XR_007065410.1:n.695C>G XR_007065410.1:n.695C>A
SGSH transcript variant X16 XR_007065413.1:n.695= XR_007065413.1:n.695C>T XR_007065413.1:n.695C>G XR_007065413.1:n.695C>A
SGSH transcript variant X13 XR_007065411.1:n.695= XR_007065411.1:n.695C>T XR_007065411.1:n.695C>G XR_007065411.1:n.695C>A
SGSH transcript variant X4 XR_007065402.1:n.695= XR_007065402.1:n.695C>T XR_007065402.1:n.695C>G XR_007065402.1:n.695C>A
SGSH transcript variant X15 XR_007065412.1:n.695= XR_007065412.1:n.695C>T XR_007065412.1:n.695C>G XR_007065412.1:n.695C>A
SGSH transcript variant X1 XR_001752585.1:n.695= XR_001752585.1:n.695C>T XR_001752585.1:n.695C>G XR_001752585.1:n.695C>A
SGSH transcript variant X2 XR_007065401.1:n.695= XR_007065401.1:n.695C>T XR_007065401.1:n.695C>G XR_007065401.1:n.695C>A
N-sulphoglucosamine sulphohydrolase isoform 1 precursor NP_000190.1:p.Phe225= NP_000190.1:p.Phe225= NP_000190.1:p.Phe225Leu NP_000190.1:p.Phe225Leu
N-sulphoglucosamine sulphohydrolase isoform 2 precursor NP_001339850.1:p.Phe225= NP_001339850.1:p.Phe225= NP_001339850.1:p.Phe225Leu NP_001339850.1:p.Phe225Leu
N-sulphoglucosamine sulphohydrolase isoform 3 precursor NP_001339851.1:p.Phe225= NP_001339851.1:p.Phe225= NP_001339851.1:p.Phe225Leu NP_001339851.1:p.Phe225Leu
N-sulphoglucosamine sulphohydrolase isoform X1 XP_011523428.1:p.Phe225= XP_011523428.1:p.Phe225= XP_011523428.1:p.Phe225Leu XP_011523428.1:p.Phe225Leu
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#.

36 SubSNP, 15 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 APPLERA_GI ss48425088 Mar 13, 2006 (126)
2 ILLUMINA ss160622186 Dec 01, 2009 (131)
3 NHLBI-ESP ss342467767 May 09, 2011 (134)
4 1000GENOMES ss465076166 Sep 17, 2011 (135)
5 ILLUMINA ss481703355 Sep 08, 2015 (146)
6 1000GENOMES ss491134059 May 04, 2012 (137)
7 JMKIDD_LAB ss1067576269 Aug 21, 2014 (142)
8 1000GENOMES ss1359707763 Aug 21, 2014 (142)
9 EVA_EXAC ss1693015120 Apr 01, 2015 (144)
10 EVA_EXAC ss1693015121 Apr 01, 2015 (144)
11 HAMMER_LAB ss1808900245 Sep 08, 2015 (146)
12 WEILL_CORNELL_DGM ss1936843544 Feb 12, 2016 (147)
13 ILLUMINA ss1959775923 Feb 12, 2016 (147)
14 HUMAN_LONGEVITY ss2218972557 Dec 20, 2016 (150)
15 GNOMAD ss2743085626 Nov 08, 2017 (151)
16 GNOMAD ss2749889144 Nov 08, 2017 (151)
17 GNOMAD ss2952926129 Nov 08, 2017 (151)
18 ILLUMINA ss3021811295 Nov 08, 2017 (151)
19 ILLUMINA ss3636378857 Oct 12, 2018 (152)
20 ILLUMINA ss3652229907 Oct 12, 2018 (152)
21 KHV_HUMAN_GENOMES ss3820250726 Jul 13, 2019 (153)
22 EVA ss3825164086 Apr 27, 2020 (154)
23 EVA ss3825909606 Apr 27, 2020 (154)
24 EVA ss3835000625 Apr 27, 2020 (154)
25 SGDP_PRJ ss3886308697 Apr 27, 2020 (154)
26 EVA ss3986746308 Apr 26, 2021 (155)
27 TOPMED ss5045206029 Apr 26, 2021 (155)
28 TOPMED ss5045206030 Apr 26, 2021 (155)
29 TOPMED ss5045206031 Apr 26, 2021 (155)
30 1000G_HIGH_COVERAGE ss5304088734 Oct 16, 2022 (156)
31 EVA ss5429299092 Oct 16, 2022 (156)
32 HUGCELL_USP ss5497038742 Oct 16, 2022 (156)
33 1000G_HIGH_COVERAGE ss5608253600 Oct 16, 2022 (156)
34 SANFORD_IMAGENETICS ss5660626141 Oct 16, 2022 (156)
35 EVA ss5914998920 Oct 16, 2022 (156)
36 EVA ss5952029846 Oct 16, 2022 (156)
37 1000Genomes NC_000017.10 - 78187673 Oct 12, 2018 (152)
38 1000Genomes_30x NC_000017.11 - 80213874 Oct 16, 2022 (156)
39 ExAC

Submission ignored due to conflicting rows:
Row 3476285 (NC_000017.10:78187672:G:G 93190/93378, NC_000017.10:78187672:G:A 188/93378)
Row 3476286 (NC_000017.10:78187672:G:G 93376/93378, NC_000017.10:78187672:G:C 2/93378)

- Oct 12, 2018 (152)
40 ExAC

Submission ignored due to conflicting rows:
Row 3476285 (NC_000017.10:78187672:G:G 93190/93378, NC_000017.10:78187672:G:A 188/93378)
Row 3476286 (NC_000017.10:78187672:G:G 93376/93378, NC_000017.10:78187672:G:C 2/93378)

- Oct 12, 2018 (152)
41 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 515049014 (NC_000017.11:80213873:G:A 801/140276)
Row 515049015 (NC_000017.11:80213873:G:C 7/140280)

- Apr 26, 2021 (155)
42 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 515049014 (NC_000017.11:80213873:G:A 801/140276)
Row 515049015 (NC_000017.11:80213873:G:C 7/140280)

- Apr 26, 2021 (155)
43 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 12394515 (NC_000017.10:78187672:G:G 235561/235912, NC_000017.10:78187672:G:A 351/235912)
Row 12394516 (NC_000017.10:78187672:G:G 235910/235912, NC_000017.10:78187672:G:C 2/235912)

- Jul 13, 2019 (153)
44 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 12394515 (NC_000017.10:78187672:G:G 235561/235912, NC_000017.10:78187672:G:A 351/235912)
Row 12394516 (NC_000017.10:78187672:G:G 235910/235912, NC_000017.10:78187672:G:C 2/235912)

- Jul 13, 2019 (153)
45 GO Exome Sequencing Project NC_000017.10 - 78187673 Oct 12, 2018 (152)
46 Qatari NC_000017.10 - 78187673 Apr 27, 2020 (154)
47 SGDP_PRJ NC_000017.10 - 78187673 Apr 27, 2020 (154)
48 TopMed

Submission ignored due to conflicting rows:
Row 260751691 (NC_000017.11:80213873:G:A 1575/264690)
Row 260751692 (NC_000017.11:80213873:G:C 8/264690)
Row 260751693 (NC_000017.11:80213873:G:T 1/264690)

- Apr 26, 2021 (155)
49 TopMed

Submission ignored due to conflicting rows:
Row 260751691 (NC_000017.11:80213873:G:A 1575/264690)
Row 260751692 (NC_000017.11:80213873:G:C 8/264690)
Row 260751693 (NC_000017.11:80213873:G:T 1/264690)

- Apr 26, 2021 (155)
50 TopMed

Submission ignored due to conflicting rows:
Row 260751691 (NC_000017.11:80213873:G:A 1575/264690)
Row 260751692 (NC_000017.11:80213873:G:C 8/264690)
Row 260751693 (NC_000017.11:80213873:G:T 1/264690)

- Apr 26, 2021 (155)
51 ALFA NC_000017.11 - 80213874 Apr 26, 2021 (155)
52 ClinVar RCV000224603.2 Oct 16, 2022 (156)
53 ClinVar RCV000633456.12 Oct 16, 2022 (156)
54 ClinVar RCV000675098.5 Oct 16, 2022 (156)
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
72990130, 1621130, 18885466, 38325677, ss342467767, ss465076166, ss481703355, ss491134059, ss1067576269, ss1359707763, ss1693015120, ss1808900245, ss1936843544, ss1959775923, ss2743085626, ss2749889144, ss2952926129, ss3021811295, ss3636378857, ss3652229907, ss3825164086, ss3825909606, ss3835000625, ss3886308697, ss3986746308, ss5429299092, ss5660626141, ss5952029846 NC_000017.10:78187672:G:A NC_000017.11:80213873:G:A (self)
RCV000633456.12, 95779535, 4599521268, ss2218972557, ss3820250726, ss5045206029, ss5304088734, ss5497038742, ss5608253600, ss5914998920 NC_000017.11:80213873:G:A NC_000017.11:80213873:G:A (self)
ss48425088, ss160622186 NT_010783.15:43461824:G:A NC_000017.11:80213873:G:A (self)
ss1693015121, ss2743085626 NC_000017.10:78187672:G:C NC_000017.11:80213873:G:C (self)
RCV000224603.2, RCV000675098.5, 4599521268, ss2218972557, ss5045206030 NC_000017.11:80213873:G:C NC_000017.11:80213873:G:C (self)
4599521268, ss5045206031 NC_000017.11:80213873:G:T NC_000017.11:80213873: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.

1 citation for rs34520362
PMID Title Author Year Journal
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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.post761+d5e8e07