Name: rs35250440
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.

rs35250440

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:14523225-14523257 (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: del(CA)₁₁ / del(CA)₈ / del(CA)₇ / …
del(CA)₁₁ / del(CA)₈ / del(CA)₇ / del(CA)₆ / del(CA)₅ / del(CA)₄ / del(CA)₃ / delCACA / delCA / dupCA / dupCACA / dup(CA)₃ / dup(CA)₄ / dup(CA)₅ / dup(CA)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(CA)₁₁=0.000004 (1/264690, TOPMED)
del(CA)₃=0.1044 (915/8764, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PARN : Intron 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	8764	ACACACACACACACACACACACACACACACACA=0.7756	ACACACACACA=0.0000, ACACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0005, ACACACACACACACACACACACACACA=0.1044, ACACACACACACACACACACACACACACACACACA=0.0785, ACACACACACACACACACACACACACACACACACACA=0.0246, ACACACACACACACACACACACACACACACA=0.0159, ACACACACACACACACACACACACACACA=0.0006, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACA=0.0000	0.826037	0.025805	0.148159	32
European	Sub	7106	ACACACACACACACACACACACACACACACACA=0.7236	ACACACACACA=0.0000, ACACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0006, ACACACACACACACACACACACACACA=0.1285, ACACACACACACACACACACACACACACACACACA=0.0968, ACACACACACACACACACACACACACACACACACACA=0.0304, ACACACACACACACACACACACACACACACA=0.0194, ACACACACACACACACACACACACACACA=0.0007, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACA=0.0000	0.771461	0.033957	0.194582	30
African	Sub	996	ACACACACACACACACACACACACACACACACA=1.000	ACACACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	48	ACACACACACACACACACACACACACACACACA=1.00	ACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
African American	Sub	948	ACACACACACACACACACACACACACACACACA=1.000	ACACACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	38	ACACACACACACACACACACACACACACACACA=1.00	ACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	28	ACACACACACACACACACACACACACACACACA=1.00	ACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	10	ACACACACACACACACACACACACACACACACA=1.0	ACACACACACA=0.0, ACACACACACACACACA=0.0, ACACACACACACACACACA=0.0, ACACACACACACACACACACA=0.0, ACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	54	ACACACACACACACACACACACACACACACACA=1.00	ACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	354	ACACACACACACACACACACACACACACACACA=1.000	ACACACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	42	ACACACACACACACACACACACACACACACACA=1.00	ACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other	Sub	174	ACACACACACACACACACACACACACACACACA=0.983	ACACACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.011, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.006, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACACACACACA=0.000	0.988372	0.0	0.011628	0

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	(AC)₁₆A=0.999996	del(CA)₁₁=0.000004
Allele Frequency Aggregator	Total	Global	8764	(AC)₁₆A=0.7756	del(CA)₁₁=0.0000, del(CA)₈=0.0000, del(CA)₇=0.0000, del(CA)₆=0.0000, del(CA)₅=0.0005, del(CA)₄=0.0000, del(CA)₃=0.1044, delCACA=0.0006, delCA=0.0159, dupCA=0.0785, dupCACA=0.0246, dup(CA)₃=0.0000, dup(CA)₄=0.0000, dup(CA)₅=0.0000, dup(CA)₆=0.0000
Allele Frequency Aggregator	European	Sub	7106	(AC)₁₆A=0.7236	del(CA)₁₁=0.0000, del(CA)₈=0.0000, del(CA)₇=0.0000, del(CA)₆=0.0000, del(CA)₅=0.0006, del(CA)₄=0.0000, del(CA)₃=0.1285, delCACA=0.0007, delCA=0.0194, dupCA=0.0968, dupCACA=0.0304, dup(CA)₃=0.0000, dup(CA)₄=0.0000, dup(CA)₅=0.0000, dup(CA)₆=0.0000
Allele Frequency Aggregator	African	Sub	996	(AC)₁₆A=1.000	del(CA)₁₁=0.000, del(CA)₈=0.000, del(CA)₇=0.000, del(CA)₆=0.000, del(CA)₅=0.000, del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000, dup(CA)₅=0.000, dup(CA)₆=0.000
Allele Frequency Aggregator	Latin American 2	Sub	354	(AC)₁₆A=1.000	del(CA)₁₁=0.000, del(CA)₈=0.000, del(CA)₇=0.000, del(CA)₆=0.000, del(CA)₅=0.000, del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000, dup(CA)₅=0.000, dup(CA)₆=0.000
Allele Frequency Aggregator	Other	Sub	174	(AC)₁₆A=0.983	del(CA)₁₁=0.000, del(CA)₈=0.000, del(CA)₇=0.000, del(CA)₆=0.000, del(CA)₅=0.000, del(CA)₄=0.000, del(CA)₃=0.011, delCACA=0.000, delCA=0.006, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000, dup(CA)₅=0.000, dup(CA)₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	54	(AC)₁₆A=1.00	del(CA)₁₁=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00, dup(CA)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	42	(AC)₁₆A=1.00	del(CA)₁₁=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00, dup(CA)₆=0.00
Allele Frequency Aggregator	Asian	Sub	38	(AC)₁₆A=1.00	del(CA)₁₁=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00, dup(CA)₆=0.00

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 16	NC_000016.10:g.14523226CA[5]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[8]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[9]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[10]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[11]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[12]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[13]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[14]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[15]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[17]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[18]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[19]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[20]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[21]
GRCh38.p14 chr 16	NC_000016.10:g.14523226CA[22]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[5]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[8]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[9]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[10]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[11]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[12]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[13]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[14]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[15]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[17]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[18]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[19]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[20]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[21]
GRCh37.p13 chr 16	NC_000016.9:g.14617083CA[22]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[5]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[8]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[9]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[10]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[11]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[12]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[13]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[14]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[15]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[17]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[18]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[19]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[20]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[21]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112016GT[22]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[5]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[8]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[9]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[10]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[11]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[12]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[13]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[14]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[15]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[17]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[18]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[19]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[20]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[21]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96083CA[22]

Gene: PARN, poly(A)-specific ribonuclease (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PARN transcript variant 2	NM_001134477.3:c.1297+287… NM_001134477.3:c.1297+28765GT[5]	N/A	Intron Variant
PARN transcript variant 3	NM_001242992.2:c.1342+287… NM_001242992.2:c.1342+28765GT[5]	N/A	Intron Variant
PARN transcript variant 1	NM_002582.4:c.1480+28765G… NM_002582.4:c.1480+28765GT[5]	N/A	Intron Variant
PARN transcript variant X1	XM_047434181.1:c.1480+287… XM_047434181.1:c.1480+28765GT[5]	N/A	Intron Variant
PARN transcript variant X2	XM_047434182.1:c.1480+287… XM_047434182.1:c.1480+28765GT[5]	N/A	Intron Variant
PARN transcript variant X6	XM_047434183.1:c.1297+287… XM_047434183.1:c.1297+28765GT[5]	N/A	Intron Variant
PARN transcript variant X7	XM_047434184.1:c.1297+287… XM_047434184.1:c.1297+28765GT[5]	N/A	Intron Variant
PARN transcript variant X9	XM_011522514.3:c.	N/A	Genic Downstream Transcript Variant
PARN transcript variant X10	XM_047434185.1:c.	N/A	Genic Downstream Transcript Variant
PARN transcript variant X3	XR_007064881.1:n.	N/A	Intron Variant
PARN transcript variant X4	XR_007064882.1:n.	N/A	Intron Variant
PARN transcript variant X5	XR_007064883.1:n.	N/A	Intron Variant
PARN transcript variant X8	XR_007064884.1:n.	N/A	Intron 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.

Not Reported in ClinVar

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	(AC)₁₆A=	del(CA)₁₁	del(CA)₈	del(CA)₇	del(CA)₆	del(CA)₅	del(CA)₄	del(CA)₃	delCACA	delCA	dupCA	dupCACA	dup(CA)₃	dup(CA)₄	dup(CA)₅	dup(CA)₆
GRCh38.p14 chr 16	NC_000016.10:g.14523225_14523257=	NC_000016.10:g.14523226CA[5]	NC_000016.10:g.14523226CA[8]	NC_000016.10:g.14523226CA[9]	NC_000016.10:g.14523226CA[10]	NC_000016.10:g.14523226CA[11]	NC_000016.10:g.14523226CA[12]	NC_000016.10:g.14523226CA[13]	NC_000016.10:g.14523226CA[14]	NC_000016.10:g.14523226CA[15]	NC_000016.10:g.14523226CA[17]	NC_000016.10:g.14523226CA[18]	NC_000016.10:g.14523226CA[19]	NC_000016.10:g.14523226CA[20]	NC_000016.10:g.14523226CA[21]	NC_000016.10:g.14523226CA[22]
GRCh37.p13 chr 16	NC_000016.9:g.14617082_14617114=	NC_000016.9:g.14617083CA[5]	NC_000016.9:g.14617083CA[8]	NC_000016.9:g.14617083CA[9]	NC_000016.9:g.14617083CA[10]	NC_000016.9:g.14617083CA[11]	NC_000016.9:g.14617083CA[12]	NC_000016.9:g.14617083CA[13]	NC_000016.9:g.14617083CA[14]	NC_000016.9:g.14617083CA[15]	NC_000016.9:g.14617083CA[17]	NC_000016.9:g.14617083CA[18]	NC_000016.9:g.14617083CA[19]	NC_000016.9:g.14617083CA[20]	NC_000016.9:g.14617083CA[21]	NC_000016.9:g.14617083CA[22]
A RefSeqGene (LRG_1286)	NG_042871.1:g.112015_112047=	NG_042871.1:g.112016GT[5]	NG_042871.1:g.112016GT[8]	NG_042871.1:g.112016GT[9]	NG_042871.1:g.112016GT[10]	NG_042871.1:g.112016GT[11]	NG_042871.1:g.112016GT[12]	NG_042871.1:g.112016GT[13]	NG_042871.1:g.112016GT[14]	NG_042871.1:g.112016GT[15]	NG_042871.1:g.112016GT[17]	NG_042871.1:g.112016GT[18]	NG_042871.1:g.112016GT[19]	NG_042871.1:g.112016GT[20]	NG_042871.1:g.112016GT[21]	NG_042871.1:g.112016GT[22]
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.96082_96114=	NT_187607.1:g.96083CA[5]	NT_187607.1:g.96083CA[8]	NT_187607.1:g.96083CA[9]	NT_187607.1:g.96083CA[10]	NT_187607.1:g.96083CA[11]	NT_187607.1:g.96083CA[12]	NT_187607.1:g.96083CA[13]	NT_187607.1:g.96083CA[14]	NT_187607.1:g.96083CA[15]	NT_187607.1:g.96083CA[17]	NT_187607.1:g.96083CA[18]	NT_187607.1:g.96083CA[19]	NT_187607.1:g.96083CA[20]	NT_187607.1:g.96083CA[21]	NT_187607.1:g.96083CA[22]
PARN transcript variant 2	NM_001134477.2:c.1297+28796=	NM_001134477.2:c.1297+28765GT[5]	NM_001134477.2:c.1297+28765GT[8]	NM_001134477.2:c.1297+28765GT[9]	NM_001134477.2:c.1297+28765GT[10]	NM_001134477.2:c.1297+28765GT[11]	NM_001134477.2:c.1297+28765GT[12]	NM_001134477.2:c.1297+28765GT[13]	NM_001134477.2:c.1297+28765GT[14]	NM_001134477.2:c.1297+28765GT[15]	NM_001134477.2:c.1297+28765GT[17]	NM_001134477.2:c.1297+28765GT[18]	NM_001134477.2:c.1297+28765GT[19]	NM_001134477.2:c.1297+28765GT[20]	NM_001134477.2:c.1297+28765GT[21]	NM_001134477.2:c.1297+28765GT[22]
PARN transcript variant 2	NM_001134477.3:c.1297+28796=	NM_001134477.3:c.1297+28765GT[5]	NM_001134477.3:c.1297+28765GT[8]	NM_001134477.3:c.1297+28765GT[9]	NM_001134477.3:c.1297+28765GT[10]	NM_001134477.3:c.1297+28765GT[11]	NM_001134477.3:c.1297+28765GT[12]	NM_001134477.3:c.1297+28765GT[13]	NM_001134477.3:c.1297+28765GT[14]	NM_001134477.3:c.1297+28765GT[15]	NM_001134477.3:c.1297+28765GT[17]	NM_001134477.3:c.1297+28765GT[18]	NM_001134477.3:c.1297+28765GT[19]	NM_001134477.3:c.1297+28765GT[20]	NM_001134477.3:c.1297+28765GT[21]	NM_001134477.3:c.1297+28765GT[22]
PARN transcript variant 3	NM_001242992.1:c.1342+28796=	NM_001242992.1:c.1342+28765GT[5]	NM_001242992.1:c.1342+28765GT[8]	NM_001242992.1:c.1342+28765GT[9]	NM_001242992.1:c.1342+28765GT[10]	NM_001242992.1:c.1342+28765GT[11]	NM_001242992.1:c.1342+28765GT[12]	NM_001242992.1:c.1342+28765GT[13]	NM_001242992.1:c.1342+28765GT[14]	NM_001242992.1:c.1342+28765GT[15]	NM_001242992.1:c.1342+28765GT[17]	NM_001242992.1:c.1342+28765GT[18]	NM_001242992.1:c.1342+28765GT[19]	NM_001242992.1:c.1342+28765GT[20]	NM_001242992.1:c.1342+28765GT[21]	NM_001242992.1:c.1342+28765GT[22]
PARN transcript variant 3	NM_001242992.2:c.1342+28796=	NM_001242992.2:c.1342+28765GT[5]	NM_001242992.2:c.1342+28765GT[8]	NM_001242992.2:c.1342+28765GT[9]	NM_001242992.2:c.1342+28765GT[10]	NM_001242992.2:c.1342+28765GT[11]	NM_001242992.2:c.1342+28765GT[12]	NM_001242992.2:c.1342+28765GT[13]	NM_001242992.2:c.1342+28765GT[14]	NM_001242992.2:c.1342+28765GT[15]	NM_001242992.2:c.1342+28765GT[17]	NM_001242992.2:c.1342+28765GT[18]	NM_001242992.2:c.1342+28765GT[19]	NM_001242992.2:c.1342+28765GT[20]	NM_001242992.2:c.1342+28765GT[21]	NM_001242992.2:c.1342+28765GT[22]
PARN transcript variant 1	NM_002582.3:c.1480+28796=	NM_002582.3:c.1480+28765GT[5]	NM_002582.3:c.1480+28765GT[8]	NM_002582.3:c.1480+28765GT[9]	NM_002582.3:c.1480+28765GT[10]	NM_002582.3:c.1480+28765GT[11]	NM_002582.3:c.1480+28765GT[12]	NM_002582.3:c.1480+28765GT[13]	NM_002582.3:c.1480+28765GT[14]	NM_002582.3:c.1480+28765GT[15]	NM_002582.3:c.1480+28765GT[17]	NM_002582.3:c.1480+28765GT[18]	NM_002582.3:c.1480+28765GT[19]	NM_002582.3:c.1480+28765GT[20]	NM_002582.3:c.1480+28765GT[21]	NM_002582.3:c.1480+28765GT[22]
PARN transcript variant 1	NM_002582.4:c.1480+28796=	NM_002582.4:c.1480+28765GT[5]	NM_002582.4:c.1480+28765GT[8]	NM_002582.4:c.1480+28765GT[9]	NM_002582.4:c.1480+28765GT[10]	NM_002582.4:c.1480+28765GT[11]	NM_002582.4:c.1480+28765GT[12]	NM_002582.4:c.1480+28765GT[13]	NM_002582.4:c.1480+28765GT[14]	NM_002582.4:c.1480+28765GT[15]	NM_002582.4:c.1480+28765GT[17]	NM_002582.4:c.1480+28765GT[18]	NM_002582.4:c.1480+28765GT[19]	NM_002582.4:c.1480+28765GT[20]	NM_002582.4:c.1480+28765GT[21]	NM_002582.4:c.1480+28765GT[22]
PARN transcript variant X1	XM_005255341.1:c.955+28796=	XM_005255341.1:c.955+28765GT[5]	XM_005255341.1:c.955+28765GT[8]	XM_005255341.1:c.955+28765GT[9]	XM_005255341.1:c.955+28765GT[10]	XM_005255341.1:c.955+28765GT[11]	XM_005255341.1:c.955+28765GT[12]	XM_005255341.1:c.955+28765GT[13]	XM_005255341.1:c.955+28765GT[14]	XM_005255341.1:c.955+28765GT[15]	XM_005255341.1:c.955+28765GT[17]	XM_005255341.1:c.955+28765GT[18]	XM_005255341.1:c.955+28765GT[19]	XM_005255341.1:c.955+28765GT[20]	XM_005255341.1:c.955+28765GT[21]	XM_005255341.1:c.955+28765GT[22]
PARN transcript variant X1	XM_047434181.1:c.1480+28796=	XM_047434181.1:c.1480+28765GT[5]	XM_047434181.1:c.1480+28765GT[8]	XM_047434181.1:c.1480+28765GT[9]	XM_047434181.1:c.1480+28765GT[10]	XM_047434181.1:c.1480+28765GT[11]	XM_047434181.1:c.1480+28765GT[12]	XM_047434181.1:c.1480+28765GT[13]	XM_047434181.1:c.1480+28765GT[14]	XM_047434181.1:c.1480+28765GT[15]	XM_047434181.1:c.1480+28765GT[17]	XM_047434181.1:c.1480+28765GT[18]	XM_047434181.1:c.1480+28765GT[19]	XM_047434181.1:c.1480+28765GT[20]	XM_047434181.1:c.1480+28765GT[21]	XM_047434181.1:c.1480+28765GT[22]
PARN transcript variant X2	XM_047434182.1:c.1480+28796=	XM_047434182.1:c.1480+28765GT[5]	XM_047434182.1:c.1480+28765GT[8]	XM_047434182.1:c.1480+28765GT[9]	XM_047434182.1:c.1480+28765GT[10]	XM_047434182.1:c.1480+28765GT[11]	XM_047434182.1:c.1480+28765GT[12]	XM_047434182.1:c.1480+28765GT[13]	XM_047434182.1:c.1480+28765GT[14]	XM_047434182.1:c.1480+28765GT[15]	XM_047434182.1:c.1480+28765GT[17]	XM_047434182.1:c.1480+28765GT[18]	XM_047434182.1:c.1480+28765GT[19]	XM_047434182.1:c.1480+28765GT[20]	XM_047434182.1:c.1480+28765GT[21]	XM_047434182.1:c.1480+28765GT[22]
PARN transcript variant X6	XM_047434183.1:c.1297+28796=	XM_047434183.1:c.1297+28765GT[5]	XM_047434183.1:c.1297+28765GT[8]	XM_047434183.1:c.1297+28765GT[9]	XM_047434183.1:c.1297+28765GT[10]	XM_047434183.1:c.1297+28765GT[11]	XM_047434183.1:c.1297+28765GT[12]	XM_047434183.1:c.1297+28765GT[13]	XM_047434183.1:c.1297+28765GT[14]	XM_047434183.1:c.1297+28765GT[15]	XM_047434183.1:c.1297+28765GT[17]	XM_047434183.1:c.1297+28765GT[18]	XM_047434183.1:c.1297+28765GT[19]	XM_047434183.1:c.1297+28765GT[20]	XM_047434183.1:c.1297+28765GT[21]	XM_047434183.1:c.1297+28765GT[22]
PARN transcript variant X7	XM_047434184.1:c.1297+28796=	XM_047434184.1:c.1297+28765GT[5]	XM_047434184.1:c.1297+28765GT[8]	XM_047434184.1:c.1297+28765GT[9]	XM_047434184.1:c.1297+28765GT[10]	XM_047434184.1:c.1297+28765GT[11]	XM_047434184.1:c.1297+28765GT[12]	XM_047434184.1:c.1297+28765GT[13]	XM_047434184.1:c.1297+28765GT[14]	XM_047434184.1:c.1297+28765GT[15]	XM_047434184.1:c.1297+28765GT[17]	XM_047434184.1:c.1297+28765GT[18]	XM_047434184.1:c.1297+28765GT[19]	XM_047434184.1:c.1297+28765GT[20]	XM_047434184.1:c.1297+28765GT[21]	XM_047434184.1:c.1297+28765GT[22]

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#.

77 SubSNP, 36 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40747913	Mar 14, 2006 (126)
2	HGSV	ss80486420	Oct 12, 2018 (152)
3	HGSV	ss81927471	Oct 12, 2018 (152)
4	HGSV	ss81978661	Oct 12, 2018 (152)
5	HGSV	ss83487162	Oct 12, 2018 (152)
6	HUMANGENOME_JCVI	ss95673034	Oct 12, 2018 (152)
7	GMI	ss289285127	Oct 12, 2018 (152)
8	1000GENOMES	ss327837919	May 09, 2011 (134)
9	LUNTER	ss552459875	Apr 25, 2013 (138)
10	LUNTER	ss552795324	Apr 25, 2013 (138)
11	LUNTER	ss553591880	Apr 25, 2013 (138)
12	SSMP	ss664302411	Apr 01, 2015 (144)
13	BILGI_BIOE	ss666665078	Apr 25, 2013 (138)
14	DDI	ss1536822775	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1708482619	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1708482660	Apr 01, 2015 (144)
17	EVA_UK10K_ALSPAC	ss1710691951	Apr 01, 2015 (144)
18	EVA_UK10K_TWINSUK	ss1710691956	Apr 01, 2015 (144)
19	HAMMER_LAB	ss1808443143	Sep 08, 2015 (146)
20	SWEGEN	ss3014135053	Nov 08, 2017 (151)
21	MCHAISSO	ss3065612279	Nov 08, 2017 (151)
22	EVA_DECODE	ss3698925757	Jul 13, 2019 (153)
23	EVA_DECODE	ss3698925758	Jul 13, 2019 (153)
24	EVA_DECODE	ss3698925759	Jul 13, 2019 (153)
25	EVA_DECODE	ss3698925760	Jul 13, 2019 (153)
26	EVA_DECODE	ss3698925761	Jul 13, 2019 (153)
27	EVA_DECODE	ss3698925762	Jul 13, 2019 (153)
28	PACBIO	ss3787992567	Jul 13, 2019 (153)
29	PACBIO	ss3792984147	Jul 13, 2019 (153)
30	PACBIO	ss3797869129	Jul 13, 2019 (153)
31	EVA	ss3834497539	Apr 27, 2020 (154)
32	EVA	ss3840854116	Apr 27, 2020 (154)
33	EVA	ss3846345539	Apr 27, 2020 (154)
34	VINODS	ss4032508281	Apr 26, 2021 (155)
35	GNOMAD	ss4297591212	Apr 26, 2021 (155)
36	GNOMAD	ss4297591213	Apr 26, 2021 (155)
37	GNOMAD	ss4297591214	Apr 26, 2021 (155)
38	GNOMAD	ss4297591215	Apr 26, 2021 (155)
39	GNOMAD	ss4297591216	Apr 26, 2021 (155)
40	GNOMAD	ss4297591217	Apr 26, 2021 (155)
41	GNOMAD	ss4297591218	Apr 26, 2021 (155)
42	GNOMAD	ss4297591219	Apr 26, 2021 (155)
43	GNOMAD	ss4297591220	Apr 26, 2021 (155)
44	GNOMAD	ss4297591221	Apr 26, 2021 (155)
45	GNOMAD	ss4297591222	Apr 26, 2021 (155)
46	GNOMAD	ss4297591223	Apr 26, 2021 (155)
47	GNOMAD	ss4297591224	Apr 26, 2021 (155)
48	TOPMED	ss5009219537	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5218613317	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5218613318	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5218613319	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5218613320	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5218613321	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5218613322	Apr 26, 2021 (155)
55	1000G_HIGH_COVERAGE	ss5300285474	Oct 17, 2022 (156)
56	1000G_HIGH_COVERAGE	ss5300285475	Oct 17, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5300285476	Oct 17, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5300285477	Oct 17, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5300285478	Oct 17, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5300285479	Oct 17, 2022 (156)
61	HUGCELL_USP	ss5493799377	Oct 17, 2022 (156)
62	HUGCELL_USP	ss5493799378	Oct 17, 2022 (156)
63	HUGCELL_USP	ss5493799379	Oct 17, 2022 (156)
64	HUGCELL_USP	ss5493799380	Oct 17, 2022 (156)
65	HUGCELL_USP	ss5493799381	Oct 17, 2022 (156)
66	HUGCELL_USP	ss5493799382	Oct 17, 2022 (156)
67	TOMMO_GENOMICS	ss5773149148	Oct 17, 2022 (156)
68	TOMMO_GENOMICS	ss5773149149	Oct 17, 2022 (156)
69	TOMMO_GENOMICS	ss5773149150	Oct 17, 2022 (156)
70	TOMMO_GENOMICS	ss5773149151	Oct 17, 2022 (156)
71	TOMMO_GENOMICS	ss5773149152	Oct 17, 2022 (156)
72	TOMMO_GENOMICS	ss5773149153	Oct 17, 2022 (156)
73	EVA	ss5846163615	Oct 17, 2022 (156)
74	EVA	ss5846163616	Oct 17, 2022 (156)
75	EVA	ss5851510406	Oct 17, 2022 (156)
76	EVA	ss5898462384	Oct 17, 2022 (156)
77	EVA	ss5980908719	Oct 17, 2022 (156)
78	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 38148011 (NC_000016.9:14617081::AC 594/3854) Row 38148012 (NC_000016.9:14617081:ACACAC: 762/3854)	-	Oct 12, 2018 (152)
79	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 38148011 (NC_000016.9:14617081::AC 594/3854) Row 38148012 (NC_000016.9:14617081:ACACAC: 762/3854)	-	Oct 12, 2018 (152)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 484045802 (NC_000016.10:14523224::AC 18174/132470) Row 484045803 (NC_000016.10:14523224::ACAC 5792/132602) Row 484045804 (NC_000016.10:14523224::ACACAC 3843/132614)...	-	Apr 26, 2021 (155)
93	8.3KJPN Submission ignored due to conflicting rows: Row 76582624 (NC_000016.9:14617081::AC 2297/16760) Row 76582625 (NC_000016.9:14617081:AC: 411/16760) Row 76582626 (NC_000016.9:14617081::ACAC 411/16760)...	-	Apr 26, 2021 (155)
94	8.3KJPN Submission ignored due to conflicting rows: Row 76582624 (NC_000016.9:14617081::AC 2297/16760) Row 76582625 (NC_000016.9:14617081:AC: 411/16760) Row 76582626 (NC_000016.9:14617081::ACAC 411/16760)...	-	Apr 26, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 76582624 (NC_000016.9:14617081::AC 2297/16760) Row 76582625 (NC_000016.9:14617081:AC: 411/16760) Row 76582626 (NC_000016.9:14617081::ACAC 411/16760)...	-	Apr 26, 2021 (155)
96	8.3KJPN Submission ignored due to conflicting rows: Row 76582624 (NC_000016.9:14617081::AC 2297/16760) Row 76582625 (NC_000016.9:14617081:AC: 411/16760) Row 76582626 (NC_000016.9:14617081::ACAC 411/16760)...	-	Apr 26, 2021 (155)
97	8.3KJPN Submission ignored due to conflicting rows: Row 76582624 (NC_000016.9:14617081::AC 2297/16760) Row 76582625 (NC_000016.9:14617081:AC: 411/16760) Row 76582626 (NC_000016.9:14617081::ACAC 411/16760)...	-	Apr 26, 2021 (155)
98	8.3KJPN Submission ignored due to conflicting rows: Row 76582624 (NC_000016.9:14617081::AC 2297/16760) Row 76582625 (NC_000016.9:14617081:AC: 411/16760) Row 76582626 (NC_000016.9:14617081::ACAC 411/16760)...	-	Apr 26, 2021 (155)
99	14KJPN Submission ignored due to conflicting rows: Row 106986252 (NC_000016.10:14523224::AC 2983/26248) Row 106986253 (NC_000016.10:14523224:AC: 542/26248) Row 106986254 (NC_000016.10:14523224:ACACAC: 846/26248)...	-	Oct 17, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 106986252 (NC_000016.10:14523224::AC 2983/26248) Row 106986253 (NC_000016.10:14523224:AC: 542/26248) Row 106986254 (NC_000016.10:14523224:ACACAC: 846/26248)...	-	Oct 17, 2022 (156)
101	14KJPN Submission ignored due to conflicting rows: Row 106986252 (NC_000016.10:14523224::AC 2983/26248) Row 106986253 (NC_000016.10:14523224:AC: 542/26248) Row 106986254 (NC_000016.10:14523224:ACACAC: 846/26248)...	-	Oct 17, 2022 (156)
102	14KJPN Submission ignored due to conflicting rows: Row 106986252 (NC_000016.10:14523224::AC 2983/26248) Row 106986253 (NC_000016.10:14523224:AC: 542/26248) Row 106986254 (NC_000016.10:14523224:ACACAC: 846/26248)...	-	Oct 17, 2022 (156)
103	14KJPN Submission ignored due to conflicting rows: Row 106986252 (NC_000016.10:14523224::AC 2983/26248) Row 106986253 (NC_000016.10:14523224:AC: 542/26248) Row 106986254 (NC_000016.10:14523224:ACACAC: 846/26248)...	-	Oct 17, 2022 (156)
104	14KJPN Submission ignored due to conflicting rows: Row 106986252 (NC_000016.10:14523224::AC 2983/26248) Row 106986253 (NC_000016.10:14523224:AC: 542/26248) Row 106986254 (NC_000016.10:14523224:ACACAC: 846/26248)...	-	Oct 17, 2022 (156)
105	TopMed	NC_000016.10 - 14523225	Apr 26, 2021 (155)
106	UK 10K study - Twins Submission ignored due to conflicting rows: Row 38148011 (NC_000016.9:14617081::AC 576/3708) Row 38148012 (NC_000016.9:14617081:ACACAC: 715/3708)	-	Oct 12, 2018 (152)
107	UK 10K study - Twins Submission ignored due to conflicting rows: Row 38148011 (NC_000016.9:14617081::AC 576/3708) Row 38148012 (NC_000016.9:14617081:ACACAC: 715/3708)	-	Oct 12, 2018 (152)
108	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 8475244 (NC_000016.9:14617081:AC: 2/143) Row 8475245 (NC_000016.9:14617081::AC 55/196) Row 8475246 (NC_000016.9:14617081:ACACAC: 2/143)...	-	Jul 13, 2019 (153)
109	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 8475244 (NC_000016.9:14617081:AC: 2/143) Row 8475245 (NC_000016.9:14617081::AC 55/196) Row 8475246 (NC_000016.9:14617081:ACACAC: 2/143)...	-	Jul 13, 2019 (153)
110	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 8475244 (NC_000016.9:14617081:AC: 2/143) Row 8475245 (NC_000016.9:14617081::AC 55/196) Row 8475246 (NC_000016.9:14617081:ACACAC: 2/143)...	-	Jul 13, 2019 (153)
111	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 8475244 (NC_000016.9:14617081:AC: 2/143) Row 8475245 (NC_000016.9:14617081::AC 55/196) Row 8475246 (NC_000016.9:14617081:ACACAC: 2/143)...	-	Jul 13, 2019 (153)
112	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 8475244 (NC_000016.9:14617081:AC: 2/143) Row 8475245 (NC_000016.9:14617081::AC 55/196) Row 8475246 (NC_000016.9:14617081:ACACAC: 2/143)...	-	Jul 13, 2019 (153)
113	ALFA	NC_000016.10 - 14523225	Apr 26, 2021 (155)

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
224765198, ss5009219537	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACA	(self)
ss4297591224	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACA	(self)
ss4297591223, ss5898462384	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACA	(self)
ss4297591222	NC_000016.10:14523224:ACACACACACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	(self)
ss4297591221	NC_000016.10:14523224:ACACACACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA	(self)
ss3698925762, ss4297591220, ss5493799377	NC_000016.10:14523224:ACACACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
ss327837919	NC_000016.8:14524582:ACACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
ss1536822775, ss1708482619, ss1708482660, ss3014135053, ss3787992567, ss3792984147, ss3797869129, ss3834497539, ss3840854116, ss5218613321, ss5846163616	NC_000016.9:14617081:ACACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
ss3846345539, ss4297591219, ss5300285478, ss5493799378, ss5773149150	NC_000016.10:14523224:ACACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
ss3698925761	NC_000016.10:14523226:ACACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
ss1808443143, ss5218613320, ss5980908719	NC_000016.9:14617081:ACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
ss4297591218, ss5300285477, ss5773149152	NC_000016.10:14523224:ACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
ss3698925760	NC_000016.10:14523228:ACAC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
ss5218613318	NC_000016.9:14617081:AC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	(self)
ss4297591217, ss5300285475, ss5493799379, ss5773149149	NC_000016.10:14523224:AC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	(self)
ss3698925759	NC_000016.10:14523230:AC:	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	(self)
ss552459875, ss553591880	NC_000016.8:14524582::AC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss289285127	NC_000016.8:14524615::CA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss664302411, ss666665078, ss5218613317, ss5846163615	NC_000016.9:14617081::AC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss1710691951, ss1710691956	NC_000016.9:14617087::AC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss4297591212, ss5300285474, ss5493799380, ss5773149148, ss5851510406	NC_000016.10:14523224::AC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss3698925758	NC_000016.10:14523232::AC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss40747913	NT_010393.16:14557113::AC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss81927471, ss81978661, ss83487162, ss95673034	NT_010393.16:14557114::CA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss4032508281	NT_187607.1:96081::AC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss5218613319	NC_000016.9:14617081::ACAC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
ss3065612279, ss4297591213, ss5300285479, ss5493799381, ss5773149151	NC_000016.10:14523224::ACAC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
ss3698925757	NC_000016.10:14523232::ACAC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
ss552795324	NC_000016.8:14524582::ACACAC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss5218613322	NC_000016.9:14617081::ACACAC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss4297591214, ss5300285476, ss5493799382, ss5773149153	NC_000016.10:14523224::ACACAC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss80486420	NT_010393.16:14557114::CACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss4297591215	NC_000016.10:14523224::ACACACAC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA	(self)
ss4297591216	NC_000016.10:14523224::ACACACACAC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
7239337873	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3241154794	NC_000016.10:14523224::ACACACACACAC	NC_000016.10:14523224:ACACACACACAC… NC_000016.10:14523224:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA

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

No publications for rs35250440

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs35250440