Name: rs34413616
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.

rs34413616

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:111786504-111786528 (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(T)₁₄ / del(T)₁₂ / del(T)₁₁ / d…
del(T)₁₄ / del(T)₁₂ / del(T)₁₁ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₁₉ / dup(T)₂₀ / dup(T)₂₁ / dup(T)₂₂ / ins(T)₂₆ / ins(T)₃₅ / ins(T)₃₆ / ins(T)₃₇
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.2322 (1385/5964, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SHOC1 : 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	5964	TTTTTTTTTTTTTTTTTTTTTTTTT=0.6348	TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.1090, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0050, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.2322, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0022, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0139, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0029, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.661255	0.153576	0.185169	32
European	Sub	5548	TTTTTTTTTTTTTTTTTTTTTTTTT=0.6081	TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.1166, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0054, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.2495, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0023, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0150, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0031, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.628075	0.168837	0.203087	32
African	Sub	140	TTTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	8	TTTTTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	132	TTTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	32	TTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	28	TTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	TTTTTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	8	TTTTTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	134	TTTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	34	TTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	68	TTTTTTTTTTTTTTTTTTTTTTTTT=0.94	TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.04, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.01, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	0.96875	0.0	0.03125	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	5964	(T)₂₅=0.6348	del(T)₁₄=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.1090, delTT=0.0000, delT=0.0050, dupT=0.2322, dupTT=0.0139, dupTTT=0.0022, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, ins(T)₃₇=0.0029
Allele Frequency Aggregator	European	Sub	5548	(T)₂₅=0.6081	del(T)₁₄=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.1166, delTT=0.0000, delT=0.0054, dupT=0.2495, dupTT=0.0150, dupTTT=0.0023, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, ins(T)₃₇=0.0031
Allele Frequency Aggregator	African	Sub	140	(T)₂₅=1.000	del(T)₁₄=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, ins(T)₃₇=0.000
Allele Frequency Aggregator	Latin American 2	Sub	134	(T)₂₅=1.000	del(T)₁₄=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, ins(T)₃₇=0.000
Allele Frequency Aggregator	Other	Sub	68	(T)₂₅=0.94	del(T)₁₄=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.04, delTT=0.00, delT=0.00, dupT=0.01, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, ins(T)₃₇=0.00
Allele Frequency Aggregator	South Asian	Sub	34	(T)₂₅=1.00	del(T)₁₄=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, ins(T)₃₇=0.00
Allele Frequency Aggregator	Asian	Sub	32	(T)₂₅=1.00	del(T)₁₄=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, ins(T)₃₇=0.00
Allele Frequency Aggregator	Latin American 1	Sub	8	(T)₂₅=1.0	del(T)₁₄=0.0, del(T)₁₂=0.0, del(T)₁₁=0.0, del(T)₉=0.0, del(T)₈=0.0, del(T)₇=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0, dup(T)₆=0.0, ins(T)₃₇=0.0

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 9	NC_000009.12:g.111786515_111786528del
GRCh38.p14 chr 9	NC_000009.12:g.111786517_111786528del
GRCh38.p14 chr 9	NC_000009.12:g.111786518_111786528del
GRCh38.p14 chr 9	NC_000009.12:g.111786520_111786528del
GRCh38.p14 chr 9	NC_000009.12:g.111786521_111786528del
GRCh38.p14 chr 9	NC_000009.12:g.111786522_111786528del
GRCh38.p14 chr 9	NC_000009.12:g.111786523_111786528del
GRCh38.p14 chr 9	NC_000009.12:g.111786524_111786528del
GRCh38.p14 chr 9	NC_000009.12:g.111786525_111786528del
GRCh38.p14 chr 9	NC_000009.12:g.111786526_111786528del
GRCh38.p14 chr 9	NC_000009.12:g.111786527_111786528del
GRCh38.p14 chr 9	NC_000009.12:g.111786528del
GRCh38.p14 chr 9	NC_000009.12:g.111786528dup
GRCh38.p14 chr 9	NC_000009.12:g.111786527_111786528dup
GRCh38.p14 chr 9	NC_000009.12:g.111786526_111786528dup
GRCh38.p14 chr 9	NC_000009.12:g.111786525_111786528dup
GRCh38.p14 chr 9	NC_000009.12:g.111786524_111786528dup
GRCh38.p14 chr 9	NC_000009.12:g.111786523_111786528dup
GRCh38.p14 chr 9	NC_000009.12:g.111786510_111786528dup
GRCh38.p14 chr 9	NC_000009.12:g.111786509_111786528dup
GRCh38.p14 chr 9	NC_000009.12:g.111786508_111786528dup
GRCh38.p14 chr 9	NC_000009.12:g.111786507_111786528dup
GRCh38.p14 chr 9	NC_000009.12:g.111786528_111786529insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 9	NC_000009.12:g.111786528_111786529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 9	NC_000009.12:g.111786528_111786529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 9	NC_000009.12:g.111786528_111786529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 9	NC_000009.11:g.114548795_114548808del
GRCh37.p13 chr 9	NC_000009.11:g.114548797_114548808del
GRCh37.p13 chr 9	NC_000009.11:g.114548798_114548808del
GRCh37.p13 chr 9	NC_000009.11:g.114548800_114548808del
GRCh37.p13 chr 9	NC_000009.11:g.114548801_114548808del
GRCh37.p13 chr 9	NC_000009.11:g.114548802_114548808del
GRCh37.p13 chr 9	NC_000009.11:g.114548803_114548808del
GRCh37.p13 chr 9	NC_000009.11:g.114548804_114548808del
GRCh37.p13 chr 9	NC_000009.11:g.114548805_114548808del
GRCh37.p13 chr 9	NC_000009.11:g.114548806_114548808del
GRCh37.p13 chr 9	NC_000009.11:g.114548807_114548808del
GRCh37.p13 chr 9	NC_000009.11:g.114548808del
GRCh37.p13 chr 9	NC_000009.11:g.114548808dup
GRCh37.p13 chr 9	NC_000009.11:g.114548807_114548808dup
GRCh37.p13 chr 9	NC_000009.11:g.114548806_114548808dup
GRCh37.p13 chr 9	NC_000009.11:g.114548805_114548808dup
GRCh37.p13 chr 9	NC_000009.11:g.114548804_114548808dup
GRCh37.p13 chr 9	NC_000009.11:g.114548803_114548808dup
GRCh37.p13 chr 9	NC_000009.11:g.114548790_114548808dup
GRCh37.p13 chr 9	NC_000009.11:g.114548789_114548808dup
GRCh37.p13 chr 9	NC_000009.11:g.114548788_114548808dup
GRCh37.p13 chr 9	NC_000009.11:g.114548787_114548808dup
GRCh37.p13 chr 9	NC_000009.11:g.114548808_114548809insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 9	NC_000009.11:g.114548808_114548809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 9	NC_000009.11:g.114548808_114548809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 9	NC_000009.11:g.114548808_114548809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: SHOC1, shortage in chiasmata 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SHOC1 transcript variant 4	NM_001378211.1:c.46-482_4… NM_001378211.1:c.46-482_46-469del	N/A	Intron Variant
SHOC1 transcript variant 2	NM_001080551.3:c.	N/A	Genic Upstream Transcript Variant
SHOC1 transcript variant 5	NM_001378212.1:c.	N/A	Genic Upstream Transcript Variant
SHOC1 transcript variant 1	NM_173521.5:c.	N/A	Genic Upstream Transcript Variant
SHOC1 transcript variant 3	NR_109816.2:n.	N/A	Intron Variant
SHOC1 transcript variant X1	XM_006716975.3:c.46-482_4… XM_006716975.3:c.46-482_46-469del	N/A	Intron Variant
SHOC1 transcript variant X9	XM_011518309.2:c.46-482_4… XM_011518309.2:c.46-482_46-469del	N/A	Intron Variant
SHOC1 transcript variant X4	XM_017014340.2:c.46-482_4… XM_017014340.2:c.46-482_46-469del	N/A	Intron Variant
SHOC1 transcript variant X8	XM_017014341.2:c.46-482_4… XM_017014341.2:c.46-482_46-469del	N/A	Intron Variant
SHOC1 transcript variant X7	XM_047422866.1:c.46-482_4… XM_047422866.1:c.46-482_46-469del	N/A	Intron Variant
SHOC1 transcript variant X10	XM_047422867.1:c.46-482_4… XM_047422867.1:c.46-482_46-469del	N/A	Intron Variant
SHOC1 transcript variant X11	XM_047422868.1:c.46-482_4… XM_047422868.1:c.46-482_46-469del	N/A	Intron Variant
SHOC1 transcript variant X2	XM_011518302.3:c.	N/A	Genic Upstream Transcript Variant
SHOC1 transcript variant X3	XM_011518303.2:c.	N/A	Genic Upstream Transcript Variant
SHOC1 transcript variant X5	XM_011518306.2:c.	N/A	Genic Upstream Transcript Variant
SHOC1 transcript variant X6	XM_047422865.1:c.	N/A	Genic Upstream Transcript 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	(T)₂₅=	del(T)₁₄	del(T)₁₂	del(T)₁₁	del(T)₉	del(T)₈	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₁₉	dup(T)₂₀	dup(T)₂₁	dup(T)₂₂	ins(T)₂₆	ins(T)₃₅	ins(T)₃₆	ins(T)₃₇
GRCh38.p14 chr 9	NC_000009.12:g.111786504_111786528=	NC_000009.12:g.111786515_111786528del	NC_000009.12:g.111786517_111786528del	NC_000009.12:g.111786518_111786528del	NC_000009.12:g.111786520_111786528del	NC_000009.12:g.111786521_111786528del	NC_000009.12:g.111786522_111786528del	NC_000009.12:g.111786523_111786528del	NC_000009.12:g.111786524_111786528del	NC_000009.12:g.111786525_111786528del	NC_000009.12:g.111786526_111786528del	NC_000009.12:g.111786527_111786528del	NC_000009.12:g.111786528del	NC_000009.12:g.111786528dup	NC_000009.12:g.111786527_111786528dup	NC_000009.12:g.111786526_111786528dup	NC_000009.12:g.111786525_111786528dup	NC_000009.12:g.111786524_111786528dup	NC_000009.12:g.111786523_111786528dup	NC_000009.12:g.111786510_111786528dup	NC_000009.12:g.111786509_111786528dup	NC_000009.12:g.111786508_111786528dup	NC_000009.12:g.111786507_111786528dup	NC_000009.12:g.111786528_111786529insTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:g.111786528_111786529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:g.111786528_111786529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:g.111786528_111786529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 9	NC_000009.11:g.114548784_114548808=	NC_000009.11:g.114548795_114548808del	NC_000009.11:g.114548797_114548808del	NC_000009.11:g.114548798_114548808del	NC_000009.11:g.114548800_114548808del	NC_000009.11:g.114548801_114548808del	NC_000009.11:g.114548802_114548808del	NC_000009.11:g.114548803_114548808del	NC_000009.11:g.114548804_114548808del	NC_000009.11:g.114548805_114548808del	NC_000009.11:g.114548806_114548808del	NC_000009.11:g.114548807_114548808del	NC_000009.11:g.114548808del	NC_000009.11:g.114548808dup	NC_000009.11:g.114548807_114548808dup	NC_000009.11:g.114548806_114548808dup	NC_000009.11:g.114548805_114548808dup	NC_000009.11:g.114548804_114548808dup	NC_000009.11:g.114548803_114548808dup	NC_000009.11:g.114548790_114548808dup	NC_000009.11:g.114548789_114548808dup	NC_000009.11:g.114548788_114548808dup	NC_000009.11:g.114548787_114548808dup	NC_000009.11:g.114548808_114548809insTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.11:g.114548808_114548809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.11:g.114548808_114548809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.11:g.114548808_114548809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SHOC1 transcript variant 4	NM_001378211.1:c.46-469=	NM_001378211.1:c.46-482_46-469del	NM_001378211.1:c.46-480_46-469del	NM_001378211.1:c.46-479_46-469del	NM_001378211.1:c.46-477_46-469del	NM_001378211.1:c.46-476_46-469del	NM_001378211.1:c.46-475_46-469del	NM_001378211.1:c.46-474_46-469del	NM_001378211.1:c.46-473_46-469del	NM_001378211.1:c.46-472_46-469del	NM_001378211.1:c.46-471_46-469del	NM_001378211.1:c.46-470_46-469del	NM_001378211.1:c.46-469del	NM_001378211.1:c.46-469dup	NM_001378211.1:c.46-470_46-469dup	NM_001378211.1:c.46-471_46-469dup	NM_001378211.1:c.46-472_46-469dup	NM_001378211.1:c.46-473_46-469dup	NM_001378211.1:c.46-474_46-469dup	NM_001378211.1:c.46-487_46-469dup	NM_001378211.1:c.46-488_46-469dup	NM_001378211.1:c.46-489_46-469dup	NM_001378211.1:c.46-490_46-469dup	NM_001378211.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001378211.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001378211.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001378211.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
C9orf84 transcript variant X1	XM_005251738.1:c.46-469=	XM_005251738.1:c.46-482_46-469del	XM_005251738.1:c.46-480_46-469del	XM_005251738.1:c.46-479_46-469del	XM_005251738.1:c.46-477_46-469del	XM_005251738.1:c.46-476_46-469del	XM_005251738.1:c.46-475_46-469del	XM_005251738.1:c.46-474_46-469del	XM_005251738.1:c.46-473_46-469del	XM_005251738.1:c.46-472_46-469del	XM_005251738.1:c.46-471_46-469del	XM_005251738.1:c.46-470_46-469del	XM_005251738.1:c.46-469del	XM_005251738.1:c.46-469dup	XM_005251738.1:c.46-470_46-469dup	XM_005251738.1:c.46-471_46-469dup	XM_005251738.1:c.46-472_46-469dup	XM_005251738.1:c.46-473_46-469dup	XM_005251738.1:c.46-474_46-469dup	XM_005251738.1:c.46-487_46-469dup	XM_005251738.1:c.46-488_46-469dup	XM_005251738.1:c.46-489_46-469dup	XM_005251738.1:c.46-490_46-469dup	XM_005251738.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_005251738.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_005251738.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_005251738.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SHOC1 transcript variant X1	XM_006716975.3:c.46-469=	XM_006716975.3:c.46-482_46-469del	XM_006716975.3:c.46-480_46-469del	XM_006716975.3:c.46-479_46-469del	XM_006716975.3:c.46-477_46-469del	XM_006716975.3:c.46-476_46-469del	XM_006716975.3:c.46-475_46-469del	XM_006716975.3:c.46-474_46-469del	XM_006716975.3:c.46-473_46-469del	XM_006716975.3:c.46-472_46-469del	XM_006716975.3:c.46-471_46-469del	XM_006716975.3:c.46-470_46-469del	XM_006716975.3:c.46-469del	XM_006716975.3:c.46-469dup	XM_006716975.3:c.46-470_46-469dup	XM_006716975.3:c.46-471_46-469dup	XM_006716975.3:c.46-472_46-469dup	XM_006716975.3:c.46-473_46-469dup	XM_006716975.3:c.46-474_46-469dup	XM_006716975.3:c.46-487_46-469dup	XM_006716975.3:c.46-488_46-469dup	XM_006716975.3:c.46-489_46-469dup	XM_006716975.3:c.46-490_46-469dup	XM_006716975.3:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_006716975.3:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_006716975.3:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_006716975.3:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SHOC1 transcript variant X9	XM_011518309.2:c.46-469=	XM_011518309.2:c.46-482_46-469del	XM_011518309.2:c.46-480_46-469del	XM_011518309.2:c.46-479_46-469del	XM_011518309.2:c.46-477_46-469del	XM_011518309.2:c.46-476_46-469del	XM_011518309.2:c.46-475_46-469del	XM_011518309.2:c.46-474_46-469del	XM_011518309.2:c.46-473_46-469del	XM_011518309.2:c.46-472_46-469del	XM_011518309.2:c.46-471_46-469del	XM_011518309.2:c.46-470_46-469del	XM_011518309.2:c.46-469del	XM_011518309.2:c.46-469dup	XM_011518309.2:c.46-470_46-469dup	XM_011518309.2:c.46-471_46-469dup	XM_011518309.2:c.46-472_46-469dup	XM_011518309.2:c.46-473_46-469dup	XM_011518309.2:c.46-474_46-469dup	XM_011518309.2:c.46-487_46-469dup	XM_011518309.2:c.46-488_46-469dup	XM_011518309.2:c.46-489_46-469dup	XM_011518309.2:c.46-490_46-469dup	XM_011518309.2:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_011518309.2:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_011518309.2:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_011518309.2:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SHOC1 transcript variant X4	XM_017014340.2:c.46-469=	XM_017014340.2:c.46-482_46-469del	XM_017014340.2:c.46-480_46-469del	XM_017014340.2:c.46-479_46-469del	XM_017014340.2:c.46-477_46-469del	XM_017014340.2:c.46-476_46-469del	XM_017014340.2:c.46-475_46-469del	XM_017014340.2:c.46-474_46-469del	XM_017014340.2:c.46-473_46-469del	XM_017014340.2:c.46-472_46-469del	XM_017014340.2:c.46-471_46-469del	XM_017014340.2:c.46-470_46-469del	XM_017014340.2:c.46-469del	XM_017014340.2:c.46-469dup	XM_017014340.2:c.46-470_46-469dup	XM_017014340.2:c.46-471_46-469dup	XM_017014340.2:c.46-472_46-469dup	XM_017014340.2:c.46-473_46-469dup	XM_017014340.2:c.46-474_46-469dup	XM_017014340.2:c.46-487_46-469dup	XM_017014340.2:c.46-488_46-469dup	XM_017014340.2:c.46-489_46-469dup	XM_017014340.2:c.46-490_46-469dup	XM_017014340.2:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_017014340.2:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_017014340.2:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_017014340.2:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SHOC1 transcript variant X8	XM_017014341.2:c.46-469=	XM_017014341.2:c.46-482_46-469del	XM_017014341.2:c.46-480_46-469del	XM_017014341.2:c.46-479_46-469del	XM_017014341.2:c.46-477_46-469del	XM_017014341.2:c.46-476_46-469del	XM_017014341.2:c.46-475_46-469del	XM_017014341.2:c.46-474_46-469del	XM_017014341.2:c.46-473_46-469del	XM_017014341.2:c.46-472_46-469del	XM_017014341.2:c.46-471_46-469del	XM_017014341.2:c.46-470_46-469del	XM_017014341.2:c.46-469del	XM_017014341.2:c.46-469dup	XM_017014341.2:c.46-470_46-469dup	XM_017014341.2:c.46-471_46-469dup	XM_017014341.2:c.46-472_46-469dup	XM_017014341.2:c.46-473_46-469dup	XM_017014341.2:c.46-474_46-469dup	XM_017014341.2:c.46-487_46-469dup	XM_017014341.2:c.46-488_46-469dup	XM_017014341.2:c.46-489_46-469dup	XM_017014341.2:c.46-490_46-469dup	XM_017014341.2:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_017014341.2:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_017014341.2:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_017014341.2:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SHOC1 transcript variant X7	XM_047422866.1:c.46-469=	XM_047422866.1:c.46-482_46-469del	XM_047422866.1:c.46-480_46-469del	XM_047422866.1:c.46-479_46-469del	XM_047422866.1:c.46-477_46-469del	XM_047422866.1:c.46-476_46-469del	XM_047422866.1:c.46-475_46-469del	XM_047422866.1:c.46-474_46-469del	XM_047422866.1:c.46-473_46-469del	XM_047422866.1:c.46-472_46-469del	XM_047422866.1:c.46-471_46-469del	XM_047422866.1:c.46-470_46-469del	XM_047422866.1:c.46-469del	XM_047422866.1:c.46-469dup	XM_047422866.1:c.46-470_46-469dup	XM_047422866.1:c.46-471_46-469dup	XM_047422866.1:c.46-472_46-469dup	XM_047422866.1:c.46-473_46-469dup	XM_047422866.1:c.46-474_46-469dup	XM_047422866.1:c.46-487_46-469dup	XM_047422866.1:c.46-488_46-469dup	XM_047422866.1:c.46-489_46-469dup	XM_047422866.1:c.46-490_46-469dup	XM_047422866.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_047422866.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_047422866.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_047422866.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SHOC1 transcript variant X10	XM_047422867.1:c.46-469=	XM_047422867.1:c.46-482_46-469del	XM_047422867.1:c.46-480_46-469del	XM_047422867.1:c.46-479_46-469del	XM_047422867.1:c.46-477_46-469del	XM_047422867.1:c.46-476_46-469del	XM_047422867.1:c.46-475_46-469del	XM_047422867.1:c.46-474_46-469del	XM_047422867.1:c.46-473_46-469del	XM_047422867.1:c.46-472_46-469del	XM_047422867.1:c.46-471_46-469del	XM_047422867.1:c.46-470_46-469del	XM_047422867.1:c.46-469del	XM_047422867.1:c.46-469dup	XM_047422867.1:c.46-470_46-469dup	XM_047422867.1:c.46-471_46-469dup	XM_047422867.1:c.46-472_46-469dup	XM_047422867.1:c.46-473_46-469dup	XM_047422867.1:c.46-474_46-469dup	XM_047422867.1:c.46-487_46-469dup	XM_047422867.1:c.46-488_46-469dup	XM_047422867.1:c.46-489_46-469dup	XM_047422867.1:c.46-490_46-469dup	XM_047422867.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_047422867.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_047422867.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_047422867.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SHOC1 transcript variant X11	XM_047422868.1:c.46-469=	XM_047422868.1:c.46-482_46-469del	XM_047422868.1:c.46-480_46-469del	XM_047422868.1:c.46-479_46-469del	XM_047422868.1:c.46-477_46-469del	XM_047422868.1:c.46-476_46-469del	XM_047422868.1:c.46-475_46-469del	XM_047422868.1:c.46-474_46-469del	XM_047422868.1:c.46-473_46-469del	XM_047422868.1:c.46-472_46-469del	XM_047422868.1:c.46-471_46-469del	XM_047422868.1:c.46-470_46-469del	XM_047422868.1:c.46-469del	XM_047422868.1:c.46-469dup	XM_047422868.1:c.46-470_46-469dup	XM_047422868.1:c.46-471_46-469dup	XM_047422868.1:c.46-472_46-469dup	XM_047422868.1:c.46-473_46-469dup	XM_047422868.1:c.46-474_46-469dup	XM_047422868.1:c.46-487_46-469dup	XM_047422868.1:c.46-488_46-469dup	XM_047422868.1:c.46-489_46-469dup	XM_047422868.1:c.46-490_46-469dup	XM_047422868.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_047422868.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_047422868.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_047422868.1:c.46-469_46-468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

73 SubSNP, 42 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss43355108	Mar 13, 2006 (126)
2	ABI	ss43450496	Mar 15, 2006 (142)
3	HGSV	ss79848721	Dec 14, 2007 (129)
4	HUMANGENOME_JCVI	ss95524300	Feb 13, 2009 (142)
5	PJP	ss295434966	May 09, 2011 (142)
6	SSMP	ss663892498	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1706526795	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1706526902	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1710437695	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1710438007	Apr 01, 2015 (144)
11	SWEGEN	ss3005457653	Nov 08, 2017 (151)
12	URBANLAB	ss3649222072	Oct 12, 2018 (152)
13	EVA_DECODE	ss3724587830	Jul 13, 2019 (153)
14	EVA_DECODE	ss3724587831	Jul 13, 2019 (153)
15	EVA_DECODE	ss3724587832	Jul 13, 2019 (153)
16	EVA_DECODE	ss3724587833	Jul 13, 2019 (153)
17	EVA_DECODE	ss3724587834	Jul 13, 2019 (153)
18	EVA_DECODE	ss3724587835	Jul 13, 2019 (153)
19	PACBIO	ss3786500855	Jul 13, 2019 (153)
20	PACBIO	ss3791703788	Jul 13, 2019 (153)
21	PACBIO	ss3796585285	Jul 13, 2019 (153)
22	EVA	ss3831818755	Apr 26, 2020 (154)
23	GNOMAD	ss4207996307	Apr 26, 2021 (155)
24	GNOMAD	ss4207996308	Apr 26, 2021 (155)
25	GNOMAD	ss4207996309	Apr 26, 2021 (155)
26	GNOMAD	ss4207996310	Apr 26, 2021 (155)
27	GNOMAD	ss4207996311	Apr 26, 2021 (155)
28	GNOMAD	ss4207996312	Apr 26, 2021 (155)
29	GNOMAD	ss4207996313	Apr 26, 2021 (155)
30	GNOMAD	ss4207996314	Apr 26, 2021 (155)
31	GNOMAD	ss4207996315	Apr 26, 2021 (155)
32	GNOMAD	ss4207996316	Apr 26, 2021 (155)
33	GNOMAD	ss4207996317	Apr 26, 2021 (155)
34	GNOMAD	ss4207996318	Apr 26, 2021 (155)
35	GNOMAD	ss4207996319	Apr 26, 2021 (155)
36	GNOMAD	ss4207996320	Apr 26, 2021 (155)
37	GNOMAD	ss4207996322	Apr 26, 2021 (155)
38	GNOMAD	ss4207996323	Apr 26, 2021 (155)
39	GNOMAD	ss4207996324	Apr 26, 2021 (155)
40	GNOMAD	ss4207996325	Apr 26, 2021 (155)
41	GNOMAD	ss4207996326	Apr 26, 2021 (155)
42	GNOMAD	ss4207996327	Apr 26, 2021 (155)
43	GNOMAD	ss4207996328	Apr 26, 2021 (155)
44	GNOMAD	ss4207996329	Apr 26, 2021 (155)
45	GNOMAD	ss4207996330	Apr 26, 2021 (155)
46	GNOMAD	ss4207996331	Apr 26, 2021 (155)
47	GNOMAD	ss4207996332	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5194918778	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5194918779	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5194918780	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5194918781	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5194918782	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5194918783	Apr 26, 2021 (155)
54	1000G_HIGH_COVERAGE	ss5281893939	Oct 16, 2022 (156)
55	1000G_HIGH_COVERAGE	ss5281893940	Oct 16, 2022 (156)
56	1000G_HIGH_COVERAGE	ss5281893941	Oct 16, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5281893942	Oct 16, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5281893943	Oct 16, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5281893944	Oct 16, 2022 (156)
60	HUGCELL_USP	ss5477787520	Oct 16, 2022 (156)
61	HUGCELL_USP	ss5477787521	Oct 16, 2022 (156)
62	HUGCELL_USP	ss5477787522	Oct 16, 2022 (156)
63	HUGCELL_USP	ss5477787523	Oct 16, 2022 (156)
64	HUGCELL_USP	ss5477787524	Oct 16, 2022 (156)
65	HUGCELL_USP	ss5477787525	Oct 16, 2022 (156)
66	TOMMO_GENOMICS	ss5739336526	Oct 16, 2022 (156)
67	TOMMO_GENOMICS	ss5739336527	Oct 16, 2022 (156)
68	TOMMO_GENOMICS	ss5739336528	Oct 16, 2022 (156)
69	TOMMO_GENOMICS	ss5739336529	Oct 16, 2022 (156)
70	TOMMO_GENOMICS	ss5739336530	Oct 16, 2022 (156)
71	TOMMO_GENOMICS	ss5739336531	Oct 16, 2022 (156)
72	EVA	ss5829635400	Oct 16, 2022 (156)
73	EVA	ss5829635401	Oct 16, 2022 (156)
74	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 26353069 (NC_000009.11:114548784:TT: 1829/3854) Row 26353070 (NC_000009.11:114548783:TTTT: 1105/3854)	-	Oct 12, 2018 (152)
75	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 26353069 (NC_000009.11:114548784:TT: 1829/3854) Row 26353070 (NC_000009.11:114548783:TTTT: 1105/3854)	-	Oct 12, 2018 (152)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
97	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
98	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
99	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
100	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335256737 (NC_000009.12:111786503::T 33532/101182) Row 335256738 (NC_000009.12:111786503::TT 1871/101308) Row 335256739 (NC_000009.12:111786503::TTT 954/101344)...	-	Apr 26, 2021 (155)
101	8.3KJPN Submission ignored due to conflicting rows: Row 52888085 (NC_000009.11:114548783::T 6757/16730) Row 52888086 (NC_000009.11:114548783::TTT 47/16730) Row 52888087 (NC_000009.11:114548783:T: 280/16730)...	-	Apr 26, 2021 (155)
102	8.3KJPN Submission ignored due to conflicting rows: Row 52888085 (NC_000009.11:114548783::T 6757/16730) Row 52888086 (NC_000009.11:114548783::TTT 47/16730) Row 52888087 (NC_000009.11:114548783:T: 280/16730)...	-	Apr 26, 2021 (155)
103	8.3KJPN Submission ignored due to conflicting rows: Row 52888085 (NC_000009.11:114548783::T 6757/16730) Row 52888086 (NC_000009.11:114548783::TTT 47/16730) Row 52888087 (NC_000009.11:114548783:T: 280/16730)...	-	Apr 26, 2021 (155)
104	8.3KJPN Submission ignored due to conflicting rows: Row 52888085 (NC_000009.11:114548783::T 6757/16730) Row 52888086 (NC_000009.11:114548783::TTT 47/16730) Row 52888087 (NC_000009.11:114548783:T: 280/16730)...	-	Apr 26, 2021 (155)
105	8.3KJPN Submission ignored due to conflicting rows: Row 52888085 (NC_000009.11:114548783::T 6757/16730) Row 52888086 (NC_000009.11:114548783::TTT 47/16730) Row 52888087 (NC_000009.11:114548783:T: 280/16730)...	-	Apr 26, 2021 (155)
106	8.3KJPN Submission ignored due to conflicting rows: Row 52888085 (NC_000009.11:114548783::T 6757/16730) Row 52888086 (NC_000009.11:114548783::TTT 47/16730) Row 52888087 (NC_000009.11:114548783:T: 280/16730)...	-	Apr 26, 2021 (155)
107	14KJPN Submission ignored due to conflicting rows: Row 73173630 (NC_000009.12:111786503::T 11921/28244) Row 73173631 (NC_000009.12:111786503::TT 345/28244) Row 73173632 (NC_000009.12:111786503:TTT: 333/28244)...	-	Oct 16, 2022 (156)
108	14KJPN Submission ignored due to conflicting rows: Row 73173630 (NC_000009.12:111786503::T 11921/28244) Row 73173631 (NC_000009.12:111786503::TT 345/28244) Row 73173632 (NC_000009.12:111786503:TTT: 333/28244)...	-	Oct 16, 2022 (156)
109	14KJPN Submission ignored due to conflicting rows: Row 73173630 (NC_000009.12:111786503::T 11921/28244) Row 73173631 (NC_000009.12:111786503::TT 345/28244) Row 73173632 (NC_000009.12:111786503:TTT: 333/28244)...	-	Oct 16, 2022 (156)
110	14KJPN Submission ignored due to conflicting rows: Row 73173630 (NC_000009.12:111786503::T 11921/28244) Row 73173631 (NC_000009.12:111786503::TT 345/28244) Row 73173632 (NC_000009.12:111786503:TTT: 333/28244)...	-	Oct 16, 2022 (156)
111	14KJPN Submission ignored due to conflicting rows: Row 73173630 (NC_000009.12:111786503::T 11921/28244) Row 73173631 (NC_000009.12:111786503::TT 345/28244) Row 73173632 (NC_000009.12:111786503:TTT: 333/28244)...	-	Oct 16, 2022 (156)
112	14KJPN Submission ignored due to conflicting rows: Row 73173630 (NC_000009.12:111786503::T 11921/28244) Row 73173631 (NC_000009.12:111786503::TT 345/28244) Row 73173632 (NC_000009.12:111786503:TTT: 333/28244)...	-	Oct 16, 2022 (156)
113	UK 10K study - Twins Submission ignored due to conflicting rows: Row 26353069 (NC_000009.11:114548784:TT: 1764/3708) Row 26353070 (NC_000009.11:114548783:TTTT: 1059/3708)	-	Oct 12, 2018 (152)
114	UK 10K study - Twins Submission ignored due to conflicting rows: Row 26353069 (NC_000009.11:114548784:TT: 1764/3708) Row 26353070 (NC_000009.11:114548783:TTTT: 1059/3708)	-	Oct 12, 2018 (152)
115	ALFA	NC_000009.12 - 111786504	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).

Associated ID	History Updated (Build)
rs72354505	May 11, 2012 (137)
rs35575582	Aug 21, 2014 (142)
rs71373771	May 11, 2012 (137)
rs376807956	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5194918783	NC_000009.11:114548783:TTTTTTTTTTT… NC_000009.11:114548783:TTTTTTTTTTTTTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss5739336531	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4207996332	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4207996331	NC_000009.12:111786503:TTTTTTTTTTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4207996330	NC_000009.12:111786503:TTTTTTTTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4207996329	NC_000009.12:111786503:TTTTTTTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4207996328	NC_000009.12:111786503:TTTTTTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4207996327	NC_000009.12:111786503:TTTTTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4207996326	NC_000009.12:111786503:TTTTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss1706526795, ss1706526902, ss3786500855, ss5829635401	NC_000009.11:114548783:TTTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3724587830, ss4207996325, ss5477787525	NC_000009.12:111786503:TTTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3005457653, ss3791703788, ss3796585285, ss3831818755, ss5194918782, ss5829635400	NC_000009.11:114548783:TTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss1710437695, ss1710438007	NC_000009.11:114548784:TTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996324, ss5281893943, ss5477787523, ss5739336528	NC_000009.12:111786503:TTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3724587831	NC_000009.12:111786504:TTT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
	NC_000009.11:114548784:TT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996323, ss5281893944, ss5477787524	NC_000009.12:111786503:TT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3724587832	NC_000009.12:111786505:TT:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5194918780	NC_000009.11:114548783:T:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3649222072, ss4207996322, ss5281893942, ss5477787520, ss5739336529	NC_000009.12:111786503:T:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3724587833	NC_000009.12:111786506:T:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss43450496	NT_008470.19:43713315:T:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss95524300	NT_008470.19:43713339:T:	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss295434966	NC_000009.10:113588605::T	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss663892498, ss5194918778	NC_000009.11:114548783::T	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996307, ss5281893939, ss5477787521, ss5739336526	NC_000009.12:111786503::T	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3724587834	NC_000009.12:111786507::T	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss43355108	NT_008470.19:43713315::T	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss79848721	NT_008470.19:43713340::T	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5194918781	NC_000009.11:114548783::TT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996308, ss5281893940, ss5477787522, ss5739336527	NC_000009.12:111786503::TT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3724587835	NC_000009.12:111786507::TT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5194918779	NC_000009.11:114548783::TTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996309, ss5281893941, ss5739336530	NC_000009.12:111786503::TTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996310	NC_000009.12:111786503::TTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996311	NC_000009.12:111786503::TTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996312	NC_000009.12:111786503::TTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996313	NC_000009.12:111786503::TTTTTTTTTT… NC_000009.12:111786503::TTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996314	NC_000009.12:111786503::TTTTTTTTTT… NC_000009.12:111786503::TTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996315	NC_000009.12:111786503::TTTTTTTTTT… NC_000009.12:111786503::TTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996316	NC_000009.12:111786503::TTTTTTTTTT… NC_000009.12:111786503::TTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996317	NC_000009.12:111786503::TTTTTTTTTT… NC_000009.12:111786503::TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996318	NC_000009.12:111786503::TTTTTTTTTT… NC_000009.12:111786503::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996319	NC_000009.12:111786503::TTTTTTTTTT… NC_000009.12:111786503::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4207996320	NC_000009.12:111786503::TTTTTTTTTT… NC_000009.12:111786503::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10256744774	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:111786503:TTTTTTTTTTT… NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

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

No publications for rs34413616

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs34413616