Name: rs774153480
Published: September 21, 2022
License: Open Access

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.

rs774153480

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:50625183-50625188 (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: delGGG / delG / dupG / dup(G)₄
Variation Type: Indel Insertion and Deletion
Frequency: dup(G)₄=0.000015 (4/264690, TOPMED)
dupG=0.00002 (1/45686, ExAC)
dup(G)₄=0.00004 (1/22747, ALFA) (+ 1 more)
delG=0.00325 (40/12312, GO-ESP)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ARSA : Frameshift Variant
Publications: 4 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	22747	GGGGGG=0.99996	GGGGGGG=0.00000, GGGGGGGGGG=0.00004
European	Sub	15556	GGGGGG=0.99994	GGGGGGG=0.00000, GGGGGGGGGG=0.00006
African	Sub	3460	GGGGGG=1.0000	GGGGGGG=0.0000, GGGGGGGGGG=0.0000
African Others	Sub	120	GGGGGG=1.000	GGGGGGG=0.000, GGGGGGGGGG=0.000
African American	Sub	3340	GGGGGG=1.0000	GGGGGGG=0.0000, GGGGGGGGGG=0.0000
Asian	Sub	168	GGGGGG=1.000	GGGGGGG=0.000, GGGGGGGGGG=0.000
East Asian	Sub	112	GGGGGG=1.000	GGGGGGG=0.000, GGGGGGGGGG=0.000
Other Asian	Sub	56	GGGGGG=1.00	GGGGGGG=0.00, GGGGGGGGGG=0.00
Latin American 1	Sub	146	GGGGGG=1.000	GGGGGGG=0.000, GGGGGGGGGG=0.000
Latin American 2	Sub	610	GGGGGG=1.000	GGGGGGG=0.000, GGGGGGGGGG=0.000
South Asian	Sub	98	GGGGGG=1.00	GGGGGGG=0.00, GGGGGGGGGG=0.00
Other	Sub	2709	GGGGGG=1.0000	GGGGGGG=0.0000, GGGGGGGGGG=0.0000

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	- No frequency provided	dup(G)₄=0.000015
ExAC	Global	Study-wide	45686	- No frequency provided	dupG=0.00002
ExAC	Europe	Sub	26962	- No frequency provided	dupG=0.00004
ExAC	Asian	Sub	10884	- No frequency provided	dupG=0.00000
ExAC	African	Sub	4066	- No frequency provided	dupG=0.0000
ExAC	American	Sub	3428	- No frequency provided	dupG=0.0000
ExAC	Other	Sub	346	- No frequency provided	dupG=0.000
Allele Frequency Aggregator	Total	Global	22747	(G)₆=0.99996	dupG=0.00000, dup(G)₄=0.00004
Allele Frequency Aggregator	European	Sub	15556	(G)₆=0.99994	dupG=0.00000, dup(G)₄=0.00006
Allele Frequency Aggregator	African	Sub	3460	(G)₆=1.0000	dupG=0.0000, dup(G)₄=0.0000
Allele Frequency Aggregator	Other	Sub	2709	(G)₆=1.0000	dupG=0.0000, dup(G)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	(G)₆=1.000	dupG=0.000, dup(G)₄=0.000
Allele Frequency Aggregator	Asian	Sub	168	(G)₆=1.000	dupG=0.000, dup(G)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(G)₆=1.000	dupG=0.000, dup(G)₄=0.000
Allele Frequency Aggregator	South Asian	Sub	98	(G)₆=1.00	dupG=0.00, dup(G)₄=0.00
GO Exome Sequencing Project	Global	Study-wide	12312	(G)₆=0.99675	delG=0.00325
GO Exome Sequencing Project	European American	Sub	8152	(G)₆=0.9969	delG=0.0031
GO Exome Sequencing Project	African American	Sub	4160	(G)₆=0.9964	delG=0.0036

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 22	NC_000022.11:g.50625186_50625188del
GRCh38.p14 chr 22	NC_000022.11:g.50625188del
GRCh38.p14 chr 22	NC_000022.11:g.50625188dup
GRCh38.p14 chr 22	NC_000022.11:g.50625185_50625188dup
GRCh37.p13 chr 22	NC_000022.10:g.51063614_51063616del
GRCh37.p13 chr 22	NC_000022.10:g.51063616del
GRCh37.p13 chr 22	NC_000022.10:g.51063616dup
GRCh37.p13 chr 22	NC_000022.10:g.51063613_51063616dup
ARSA RefSeqGene	NG_009260.2:g.7995_7997del
ARSA RefSeqGene	NG_009260.2:g.7997del
ARSA RefSeqGene	NG_009260.2:g.7997dup
ARSA RefSeqGene	NG_009260.2:g.7994_7997dup

Gene: ARSA, arylsulfatase A (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ARSA transcript variant 1	NM_000487.6:c.1490_1492del	P [CCCC] > [CGC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_000478.3:p.Pro497del	P (Pro) > ()	Inframe Deletion
ARSA transcript variant 1	NM_000487.6:c.1492del	R [CGC] > A [GC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_000478.3:p.Arg498fs	R (Arg) > A (Ala)	Frameshift Variant
ARSA transcript variant 1	NM_000487.6:c.1492dup	R [CGC] > P [CCGC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_000478.3:p.Arg498fs	R (Arg) > P (Pro)	Frameshift Variant
ARSA transcript variant 1	NM_000487.6:c.1489_1492dup	R [CGC] > P [CCCCCGC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_000478.3:p.Arg498fs	R (Arg) > P (Pro)	Frameshift Variant
ARSA transcript variant 5	NM_001085428.3:c.1232_123… NM_001085428.3:c.1232_1234del	P [CCCC] > [CGC]	Coding Sequence Variant
arylsulfatase A isoform b	NP_001078897.1:p.Pro411del	P (Pro) > ()	Inframe Deletion
ARSA transcript variant 5	NM_001085428.3:c.1234del	R [CGC] > A [GC]	Coding Sequence Variant
arylsulfatase A isoform b	NP_001078897.1:p.Arg412fs	R (Arg) > A (Ala)	Frameshift Variant
ARSA transcript variant 5	NM_001085428.3:c.1234dup	R [CGC] > P [CCGC]	Coding Sequence Variant
arylsulfatase A isoform b	NP_001078897.1:p.Arg412fs	R (Arg) > P (Pro)	Frameshift Variant
ARSA transcript variant 5	NM_001085428.3:c.1231_123… NM_001085428.3:c.1231_1234dup	R [CGC] > P [CCCCCGC]	Coding Sequence Variant
arylsulfatase A isoform b	NP_001078897.1:p.Arg412fs	R (Arg) > P (Pro)	Frameshift Variant
ARSA transcript variant 6	NM_001362782.2:c.1232_123… NM_001362782.2:c.1232_1234del	P [CCCC] > [CGC]	Coding Sequence Variant
arylsulfatase A isoform b	NP_001349711.1:p.Pro411del	P (Pro) > ()	Inframe Deletion
ARSA transcript variant 6	NM_001362782.2:c.1234del	R [CGC] > A [GC]	Coding Sequence Variant
arylsulfatase A isoform b	NP_001349711.1:p.Arg412fs	R (Arg) > A (Ala)	Frameshift Variant
ARSA transcript variant 6	NM_001362782.2:c.1234dup	R [CGC] > P [CCGC]	Coding Sequence Variant
arylsulfatase A isoform b	NP_001349711.1:p.Arg412fs	R (Arg) > P (Pro)	Frameshift Variant
ARSA transcript variant 6	NM_001362782.2:c.1231_123… NM_001362782.2:c.1231_1234dup	R [CGC] > P [CCCCCGC]	Coding Sequence Variant
arylsulfatase A isoform b	NP_001349711.1:p.Arg412fs	R (Arg) > P (Pro)	Frameshift Variant
ARSA transcript variant 2	NM_001085425.3:c.1490_149… NM_001085425.3:c.1490_1492del	P [CCCC] > [CGC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_001078894.2:p.Pro497del	P (Pro) > ()	Inframe Deletion
ARSA transcript variant 2	NM_001085425.3:c.1492del	R [CGC] > A [GC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_001078894.2:p.Arg498fs	R (Arg) > A (Ala)	Frameshift Variant
ARSA transcript variant 2	NM_001085425.3:c.1492dup	R [CGC] > P [CCGC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_001078894.2:p.Arg498fs	R (Arg) > P (Pro)	Frameshift Variant
ARSA transcript variant 2	NM_001085425.3:c.1489_149… NM_001085425.3:c.1489_1492dup	R [CGC] > P [CCCCCGC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_001078894.2:p.Arg498fs	R (Arg) > P (Pro)	Frameshift Variant
ARSA transcript variant 3	NM_001085426.3:c.1490_149… NM_001085426.3:c.1490_1492del	P [CCCC] > [CGC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_001078895.2:p.Pro497del	P (Pro) > ()	Inframe Deletion
ARSA transcript variant 3	NM_001085426.3:c.1492del	R [CGC] > A [GC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_001078895.2:p.Arg498fs	R (Arg) > A (Ala)	Frameshift Variant
ARSA transcript variant 3	NM_001085426.3:c.1492dup	R [CGC] > P [CCGC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_001078895.2:p.Arg498fs	R (Arg) > P (Pro)	Frameshift Variant
ARSA transcript variant 3	NM_001085426.3:c.1489_149… NM_001085426.3:c.1489_1492dup	R [CGC] > P [CCCCCGC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_001078895.2:p.Arg498fs	R (Arg) > P (Pro)	Frameshift Variant
ARSA transcript variant 4	NM_001085427.3:c.1490_149… NM_001085427.3:c.1490_1492del	P [CCCC] > [CGC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_001078896.2:p.Pro497del	P (Pro) > ()	Inframe Deletion
ARSA transcript variant 4	NM_001085427.3:c.1492del	R [CGC] > A [GC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_001078896.2:p.Arg498fs	R (Arg) > A (Ala)	Frameshift Variant
ARSA transcript variant 4	NM_001085427.3:c.1492dup	R [CGC] > P [CCGC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_001078896.2:p.Arg498fs	R (Arg) > P (Pro)	Frameshift Variant
ARSA transcript variant 4	NM_001085427.3:c.1489_149… NM_001085427.3:c.1489_1492dup	R [CGC] > P [CCCCCGC]	Coding Sequence Variant
arylsulfatase A isoform a precursor	NP_001078896.2:p.Arg498fs	R (Arg) > P (Pro)	Frameshift Variant
ARSA transcript variant X1	XM_011530691.4:c.220_22… XM_011530691.4:c.220_225=	N/A	3 Prime UTR Variant
ARSA transcript variant X2	XM_024452241.2:c.220_22… XM_024452241.2:c.220_225=	N/A	3 Prime UTR Variant
ARSA transcript variant X3	XM_047441363.1:c.220_22… XM_047441363.1:c.220_225=	N/A	3 Prime UTR Variant

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: delGGG (allele ID: 549301 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000673639.1	Metachromatic leukodystrophy	Uncertain-Significance

Allele: dupG (allele ID: 358673 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000411861.9	Metachromatic leukodystrophy	Pathogenic-Likely-Pathogenic
RCV001821136.3	not provided	Likely-Pathogenic

Allele: dup(G)₄ (allele ID: 187069 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000169193.2	Metachromatic leukodystrophy	Likely-Pathogenic
RCV001008371.2	not provided	Pathogenic

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)₆=	delGGG	delG	dupG	dup(G)₄
GRCh38.p14 chr 22	NC_000022.11:g.50625183_50625188=	NC_000022.11:g.50625186_50625188del	NC_000022.11:g.50625188del	NC_000022.11:g.50625188dup	NC_000022.11:g.50625185_50625188dup
GRCh37.p13 chr 22	NC_000022.10:g.51063611_51063616=	NC_000022.10:g.51063614_51063616del	NC_000022.10:g.51063616del	NC_000022.10:g.51063616dup	NC_000022.10:g.51063613_51063616dup
ARSA RefSeqGene	NG_009260.2:g.7992_7997=	NG_009260.2:g.7995_7997del	NG_009260.2:g.7997del	NG_009260.2:g.7997dup	NG_009260.2:g.7994_7997dup
ARSA transcript variant 1	NM_000487.6:c.1487_1492=	NM_000487.6:c.1490_1492del	NM_000487.6:c.1492del	NM_000487.6:c.1492dup	NM_000487.6:c.1489_1492dup
ARSA transcript variant 1	NM_000487.5:c.1487_1492=	NM_000487.5:c.1490_1492del	NM_000487.5:c.1492del	NM_000487.5:c.1492dup	NM_000487.5:c.1489_1492dup
ARSA transcript variant 2	NM_001085425.3:c.1487_1492=	NM_001085425.3:c.1490_1492del	NM_001085425.3:c.1492del	NM_001085425.3:c.1492dup	NM_001085425.3:c.1489_1492dup
ARSA transcript variant 2	NM_001085425.2:c.1487_1492=	NM_001085425.2:c.1490_1492del	NM_001085425.2:c.1492del	NM_001085425.2:c.1492dup	NM_001085425.2:c.1489_1492dup
ARSA transcript variant 3	NM_001085426.3:c.1487_1492=	NM_001085426.3:c.1490_1492del	NM_001085426.3:c.1492del	NM_001085426.3:c.1492dup	NM_001085426.3:c.1489_1492dup
ARSA transcript variant 3	NM_001085426.2:c.1487_1492=	NM_001085426.2:c.1490_1492del	NM_001085426.2:c.1492del	NM_001085426.2:c.1492dup	NM_001085426.2:c.1489_1492dup
ARSA transcript variant 4	NM_001085427.3:c.1487_1492=	NM_001085427.3:c.1490_1492del	NM_001085427.3:c.1492del	NM_001085427.3:c.1492dup	NM_001085427.3:c.1489_1492dup
ARSA transcript variant 4	NM_001085427.2:c.1487_1492=	NM_001085427.2:c.1490_1492del	NM_001085427.2:c.1492del	NM_001085427.2:c.1492dup	NM_001085427.2:c.1489_1492dup
ARSA transcript variant 5	NM_001085428.3:c.1229_1234=	NM_001085428.3:c.1232_1234del	NM_001085428.3:c.1234del	NM_001085428.3:c.1234dup	NM_001085428.3:c.1231_1234dup
ARSA transcript variant 5	NM_001085428.2:c.1229_1234=	NM_001085428.2:c.1232_1234del	NM_001085428.2:c.1234del	NM_001085428.2:c.1234dup	NM_001085428.2:c.1231_1234dup
ARSA transcript variant 6	NM_001362782.2:c.1229_1234=	NM_001362782.2:c.1232_1234del	NM_001362782.2:c.1234del	NM_001362782.2:c.1234dup	NM_001362782.2:c.1231_1234dup
ARSA transcript variant 6	NM_001362782.1:c.1229_1234=	NM_001362782.1:c.1232_1234del	NM_001362782.1:c.1234del	NM_001362782.1:c.1234dup	NM_001362782.1:c.1231_1234dup
ARSA transcript variant X1	XM_011530691.4:c.220_225=	XM_011530691.4:c.223_225del	XM_011530691.4:c.*225del	XM_011530691.4:c.*225dup	XM_011530691.4:c.222_225dup
ARSA transcript variant X3	XM_011530691.3:c.220_225=	XM_011530691.3:c.223_225del	XM_011530691.3:c.*225del	XM_011530691.3:c.*225dup	XM_011530691.3:c.222_225dup
ARSA transcript variant X3	XM_011530691.2:c.220_225=	XM_011530691.2:c.223_225del	XM_011530691.2:c.*225del	XM_011530691.2:c.*225dup	XM_011530691.2:c.222_225dup
ARSA transcript variant X2	XM_011530691.1:c.220_225=	XM_011530691.1:c.223_225del	XM_011530691.1:c.*225del	XM_011530691.1:c.*225dup	XM_011530691.1:c.222_225dup
ARSA transcript variant X2	XM_024452241.2:c.220_225=	XM_024452241.2:c.223_225del	XM_024452241.2:c.*225del	XM_024452241.2:c.*225dup	XM_024452241.2:c.222_225dup
ARSA transcript variant X4	XM_024452241.1:c.220_225=	XM_024452241.1:c.223_225del	XM_024452241.1:c.*225del	XM_024452241.1:c.*225dup	XM_024452241.1:c.222_225dup
ARSA transcript variant X3	XM_047441363.1:c.220_225=	XM_047441363.1:c.223_225del	XM_047441363.1:c.*225del	XM_047441363.1:c.*225dup	XM_047441363.1:c.222_225dup
arylsulfatase A isoform a precursor	NP_000478.3:p.Thr496_Arg498=	NP_000478.3:p.Pro497del	NP_000478.3:p.Arg498fs	NP_000478.3:p.Arg498fs	NP_000478.3:p.Arg498fs
arylsulfatase A isoform a precursor	NP_001078894.2:p.Thr496_Arg498=	NP_001078894.2:p.Pro497del	NP_001078894.2:p.Arg498fs	NP_001078894.2:p.Arg498fs	NP_001078894.2:p.Arg498fs
arylsulfatase A isoform a precursor	NP_001078895.2:p.Thr496_Arg498=	NP_001078895.2:p.Pro497del	NP_001078895.2:p.Arg498fs	NP_001078895.2:p.Arg498fs	NP_001078895.2:p.Arg498fs
arylsulfatase A isoform a precursor	NP_001078896.2:p.Thr496_Arg498=	NP_001078896.2:p.Pro497del	NP_001078896.2:p.Arg498fs	NP_001078896.2:p.Arg498fs	NP_001078896.2:p.Arg498fs
arylsulfatase A isoform b	NP_001078897.1:p.Thr410_Arg412=	NP_001078897.1:p.Pro411del	NP_001078897.1:p.Arg412fs	NP_001078897.1:p.Arg412fs	NP_001078897.1:p.Arg412fs
arylsulfatase A isoform b	NP_001349711.1:p.Thr410_Arg412=	NP_001349711.1:p.Pro411del	NP_001349711.1:p.Arg412fs	NP_001349711.1:p.Arg412fs	NP_001349711.1:p.Arg412fs

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, 8 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_EXAC	ss1712257802	Apr 01, 2015 (144)
2	CLINVAR	ss1751113838	May 21, 2015 (136)
3	CLINVAR	ss2137339472	Jan 12, 2017 (149)
4	ILLUMINA	ss3022200746	Nov 08, 2017 (151)
5	ILLUMINA	ss3652666030	Oct 12, 2018 (152)
6	PACBIO	ss3788858779	Jul 13, 2019 (153)
7	EVA	ss3825467442	Apr 27, 2020 (154)
8	GNOMAD	ss4366550790	Apr 27, 2021 (155)
9	GNOMAD	ss4366550791	Apr 27, 2021 (155)
10	TOPMED	ss5113235018	Apr 27, 2021 (155)
11	ExAC	NC_000022.10 - 51063611	Oct 12, 2018 (152)
12	gnomAD - Genomes Submission ignored due to conflicting rows: Row 573334846 (NC_000022.11:50625182::G 1/140260) Row 573334847 (NC_000022.11:50625182::GGGG 3/140260)	-	Apr 27, 2021 (155)
13	gnomAD - Genomes Submission ignored due to conflicting rows: Row 573334846 (NC_000022.11:50625182::G 1/140260) Row 573334847 (NC_000022.11:50625182::GGGG 3/140260)	-	Apr 27, 2021 (155)
14	gnomAD - Exomes Submission ignored due to conflicting rows: Row 14609714 (NC_000022.10:51063610::G 1/217596) Row 14609715 (NC_000022.10:51063610::GGGG 2/217596)	-	Jul 13, 2019 (153)
15	gnomAD - Exomes Submission ignored due to conflicting rows: Row 14609714 (NC_000022.10:51063610::G 1/217596) Row 14609715 (NC_000022.10:51063610::GGGG 2/217596)	-	Jul 13, 2019 (153)
16	GO Exome Sequencing Project	NC_000022.10 - 51063611	Oct 12, 2018 (152)
17	TopMed	NC_000022.11 - 50625183	Apr 27, 2021 (155)
18	ALFA	NC_000022.11 - 50625183	Apr 27, 2021 (155)
19	ClinVar	RCV000169193.2	Oct 16, 2022 (156)
20	ClinVar	RCV000411861.9	Oct 16, 2022 (156)
21	ClinVar	RCV000673639.1	Oct 12, 2018 (152)
22	ClinVar	RCV001008371.2	Oct 16, 2022 (156)
23	ClinVar	RCV001821136.3	Oct 16, 2022 (156)

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).

Associated ID	History Updated (Build)
rs786204508	Jun 25, 2015 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
RCV000673639.1	NC_000022.11:50625182:GGGGGG:GGG	NC_000022.11:50625182:GGGGGG:GGG	(self)
1924256, ss3788858779, ss3825467442	NC_000022.10:51063610:G:	NC_000022.11:50625182:GGGGGG:GGGGG	(self)
6022492, ss1712257802, ss3022200746, ss3652666030	NC_000022.10:51063610::G	NC_000022.11:50625182:GGGGGG:GGGGG… NC_000022.11:50625182:GGGGGG:GGGGGGG	(self)
ss2137339472, ss4366550790	NC_000022.11:50625182::G	NC_000022.11:50625182:GGGGGG:GGGGG… NC_000022.11:50625182:GGGGGG:GGGGGGG	(self)
RCV000411861.9, RCV001821136.3, 10908509404	NC_000022.11:50625182:GGGGGG:GGGGG… NC_000022.11:50625182:GGGGGG:GGGGGGG	NC_000022.11:50625182:GGGGGG:GGGGG… NC_000022.11:50625182:GGGGGG:GGGGGGG	(self)
	NC_000022.10:51063610::GGGG	NC_000022.11:50625182:GGGGGG:GGGGG… NC_000022.11:50625182:GGGGGG:GGGGGGGGGG	(self)
388343965, ss1751113838, ss4366550791, ss5113235018	NC_000022.11:50625182::GGGG	NC_000022.11:50625182:GGGGGG:GGGGG… NC_000022.11:50625182:GGGGGG:GGGGGGGGGG	(self)
RCV000169193.2, RCV001008371.2, 10908509404	NC_000022.11:50625182:GGGGGG:GGGGG… NC_000022.11:50625182:GGGGGG:GGGGGGGGGG	NC_000022.11:50625182:GGGGGG:GGGGG… NC_000022.11:50625182:GGGGGG:GGGGGGGGGG	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

4 citations for rs774153480

PMID	Title	Author	Year	Journal
12809638	Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele.	Coulter-Mackie MB et al.	2003	Molecular genetics and metabolism
19021637	Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.	Ługowska A et al.	2009	Clinical genetics
20339381	Molecular bases of metachromatic leukodystrophy in Polish patients.	Lugowska A et al.	2010	Journal of human genetics
23208745	Complete mapping of a cystine knot and nested disulfides of recombinant human arylsulfatase A by multi-enzyme digestion and LC-MS analysis using CID and ETD.	Ni W et al.	2013	Journal of the American Society for Mass Spectrometry

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
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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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs774153480