Name: rs1554479142
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.

rs1554479142

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:92128429-92128456 (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(TG)₇ / del(TG)₆ / del(TG)₅ / d…
del(TG)₇ / del(TG)₆ / del(TG)₅ / del(TG)₄ / del(TG)₃ / delTGTG / delTG / dupTG / dupTGTG / dup(TG)₃ / dup(TG)₄ / dup(TG)₅ / dup(TG)₆ / dup(TG)₇ / dup(TG)₈ / dup(TG)₉
Variation Type: Indel Insertion and Deletion
Frequency: dupTGTG=0.02125 (320/15061, ALFA)
dupTG=0.1383 (533/3854, ALSPAC)
dupTG=0.1281 (475/3708, TWINSUK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CYP51A1 : 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	15061	TGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.96727	TGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00239, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.02125, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00910, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000	0.961612	0.002056	0.036331	27
European	Sub	12373	TGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.96040	TGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00291, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.02562, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.01107, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000	0.953445	0.002521	0.044034	21
African	Sub	1664	TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.0000	TGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	66	TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.00	TGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00	1.0	0.0	0.0	N/A
African American	Sub	1598	TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.0000	TGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	40	TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.00	TGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	30	TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.00	TGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	10	TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.0	TGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	108	TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.000	TGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	456	TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.000	TGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	56	TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.00	TGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00	1.0	0.0	0.0	N/A
Other	Sub	364	TGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.992	TGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.008, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000	0.983516	0.0	0.016484	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
Allele Frequency Aggregator	Total	Global	15061	(TG)₁₄=0.96727	del(TG)₇=0.00000, del(TG)₆=0.00000, del(TG)₅=0.00000, del(TG)₄=0.00000, del(TG)₃=0.00000, delTGTG=0.00000, delTG=0.00000, dupTG=0.00239, dupTGTG=0.02125, dup(TG)₃=0.00000, dup(TG)₄=0.00000, dup(TG)₅=0.00910, dup(TG)₆=0.00000, dup(TG)₇=0.00000, dup(TG)₈=0.00000
Allele Frequency Aggregator	European	Sub	12373	(TG)₁₄=0.96040	del(TG)₇=0.00000, del(TG)₆=0.00000, del(TG)₅=0.00000, del(TG)₄=0.00000, del(TG)₃=0.00000, delTGTG=0.00000, delTG=0.00000, dupTG=0.00291, dupTGTG=0.02562, dup(TG)₃=0.00000, dup(TG)₄=0.00000, dup(TG)₅=0.01107, dup(TG)₆=0.00000, dup(TG)₇=0.00000, dup(TG)₈=0.00000
Allele Frequency Aggregator	African	Sub	1664	(TG)₁₄=1.0000	del(TG)₇=0.0000, del(TG)₆=0.0000, del(TG)₅=0.0000, del(TG)₄=0.0000, del(TG)₃=0.0000, delTGTG=0.0000, delTG=0.0000, dupTG=0.0000, dupTGTG=0.0000, dup(TG)₃=0.0000, dup(TG)₄=0.0000, dup(TG)₅=0.0000, dup(TG)₆=0.0000, dup(TG)₇=0.0000, dup(TG)₈=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	456	(TG)₁₄=1.000	del(TG)₇=0.000, del(TG)₆=0.000, del(TG)₅=0.000, del(TG)₄=0.000, del(TG)₃=0.000, delTGTG=0.000, delTG=0.000, dupTG=0.000, dupTGTG=0.000, dup(TG)₃=0.000, dup(TG)₄=0.000, dup(TG)₅=0.000, dup(TG)₆=0.000, dup(TG)₇=0.000, dup(TG)₈=0.000
Allele Frequency Aggregator	Other	Sub	364	(TG)₁₄=0.992	del(TG)₇=0.000, del(TG)₆=0.000, del(TG)₅=0.000, del(TG)₄=0.000, del(TG)₃=0.000, delTGTG=0.000, delTG=0.000, dupTG=0.000, dupTGTG=0.008, dup(TG)₃=0.000, dup(TG)₄=0.000, dup(TG)₅=0.000, dup(TG)₆=0.000, dup(TG)₇=0.000, dup(TG)₈=0.000
Allele Frequency Aggregator	Latin American 1	Sub	108	(TG)₁₄=1.000	del(TG)₇=0.000, del(TG)₆=0.000, del(TG)₅=0.000, del(TG)₄=0.000, del(TG)₃=0.000, delTGTG=0.000, delTG=0.000, dupTG=0.000, dupTGTG=0.000, dup(TG)₃=0.000, dup(TG)₄=0.000, dup(TG)₅=0.000, dup(TG)₆=0.000, dup(TG)₇=0.000, dup(TG)₈=0.000
Allele Frequency Aggregator	South Asian	Sub	56	(TG)₁₄=1.00	del(TG)₇=0.00, del(TG)₆=0.00, del(TG)₅=0.00, del(TG)₄=0.00, del(TG)₃=0.00, delTGTG=0.00, delTG=0.00, dupTG=0.00, dupTGTG=0.00, dup(TG)₃=0.00, dup(TG)₄=0.00, dup(TG)₅=0.00, dup(TG)₆=0.00, dup(TG)₇=0.00, dup(TG)₈=0.00
Allele Frequency Aggregator	Asian	Sub	40	(TG)₁₄=1.00	del(TG)₇=0.00, del(TG)₆=0.00, del(TG)₅=0.00, del(TG)₄=0.00, del(TG)₃=0.00, delTGTG=0.00, delTG=0.00, dupTG=0.00, dupTGTG=0.00, dup(TG)₃=0.00, dup(TG)₄=0.00, dup(TG)₅=0.00, dup(TG)₆=0.00, dup(TG)₇=0.00, dup(TG)₈=0.00
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupTG=0.1383
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupTG=0.1281

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 7	NC_000007.14:g.92128429TG[7]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[8]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[9]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[10]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[11]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[12]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[13]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[15]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[16]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[17]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[18]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[19]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[20]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[21]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[22]
GRCh38.p14 chr 7	NC_000007.14:g.92128429TG[23]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[7]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[8]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[9]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[10]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[11]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[12]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[13]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[15]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[16]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[17]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[18]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[19]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[20]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[21]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[22]
GRCh37.p13 chr 7	NC_000007.13:g.91757743TG[23]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[7]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[8]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[9]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[10]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[11]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[12]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[13]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[15]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[16]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[17]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[18]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[19]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[20]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[21]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[22]
CYP51A1 RefSeqGene	NG_007968.1:g.11071CA[23]

Gene: CYP51A1, cytochrome P450 family 51 subfamily A member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CYP51A1 transcript variant 1	NM_000786.4:c.468+424CA[7]	N/A	Intron Variant
CYP51A1 transcript variant 2	NM_001146152.2:c.153+424C… NM_001146152.2:c.153+424CA[7]	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	(TG)₁₄=	del(TG)₇	del(TG)₆	del(TG)₅	del(TG)₄	del(TG)₃	delTGTG	delTG	dupTG	dupTGTG	dup(TG)₃	dup(TG)₄	dup(TG)₅	dup(TG)₆	dup(TG)₇	dup(TG)₈	dup(TG)₉
GRCh38.p14 chr 7	NC_000007.14:g.92128429_92128456=	NC_000007.14:g.92128429TG[7]	NC_000007.14:g.92128429TG[8]	NC_000007.14:g.92128429TG[9]	NC_000007.14:g.92128429TG[10]	NC_000007.14:g.92128429TG[11]	NC_000007.14:g.92128429TG[12]	NC_000007.14:g.92128429TG[13]	NC_000007.14:g.92128429TG[15]	NC_000007.14:g.92128429TG[16]	NC_000007.14:g.92128429TG[17]	NC_000007.14:g.92128429TG[18]	NC_000007.14:g.92128429TG[19]	NC_000007.14:g.92128429TG[20]	NC_000007.14:g.92128429TG[21]	NC_000007.14:g.92128429TG[22]	NC_000007.14:g.92128429TG[23]
GRCh37.p13 chr 7	NC_000007.13:g.91757743_91757770=	NC_000007.13:g.91757743TG[7]	NC_000007.13:g.91757743TG[8]	NC_000007.13:g.91757743TG[9]	NC_000007.13:g.91757743TG[10]	NC_000007.13:g.91757743TG[11]	NC_000007.13:g.91757743TG[12]	NC_000007.13:g.91757743TG[13]	NC_000007.13:g.91757743TG[15]	NC_000007.13:g.91757743TG[16]	NC_000007.13:g.91757743TG[17]	NC_000007.13:g.91757743TG[18]	NC_000007.13:g.91757743TG[19]	NC_000007.13:g.91757743TG[20]	NC_000007.13:g.91757743TG[21]	NC_000007.13:g.91757743TG[22]	NC_000007.13:g.91757743TG[23]
CYP51A1 RefSeqGene	NG_007968.1:g.11071_11098=	NG_007968.1:g.11071CA[7]	NG_007968.1:g.11071CA[8]	NG_007968.1:g.11071CA[9]	NG_007968.1:g.11071CA[10]	NG_007968.1:g.11071CA[11]	NG_007968.1:g.11071CA[12]	NG_007968.1:g.11071CA[13]	NG_007968.1:g.11071CA[15]	NG_007968.1:g.11071CA[16]	NG_007968.1:g.11071CA[17]	NG_007968.1:g.11071CA[18]	NG_007968.1:g.11071CA[19]	NG_007968.1:g.11071CA[20]	NG_007968.1:g.11071CA[21]	NG_007968.1:g.11071CA[22]	NG_007968.1:g.11071CA[23]
CYP51A1 transcript variant 1	NM_000786.3:c.468+451=	NM_000786.3:c.468+424CA[7]	NM_000786.3:c.468+424CA[8]	NM_000786.3:c.468+424CA[9]	NM_000786.3:c.468+424CA[10]	NM_000786.3:c.468+424CA[11]	NM_000786.3:c.468+424CA[12]	NM_000786.3:c.468+424CA[13]	NM_000786.3:c.468+424CA[15]	NM_000786.3:c.468+424CA[16]	NM_000786.3:c.468+424CA[17]	NM_000786.3:c.468+424CA[18]	NM_000786.3:c.468+424CA[19]	NM_000786.3:c.468+424CA[20]	NM_000786.3:c.468+424CA[21]	NM_000786.3:c.468+424CA[22]	NM_000786.3:c.468+424CA[23]
CYP51A1 transcript variant 1	NM_000786.4:c.468+451=	NM_000786.4:c.468+424CA[7]	NM_000786.4:c.468+424CA[8]	NM_000786.4:c.468+424CA[9]	NM_000786.4:c.468+424CA[10]	NM_000786.4:c.468+424CA[11]	NM_000786.4:c.468+424CA[12]	NM_000786.4:c.468+424CA[13]	NM_000786.4:c.468+424CA[15]	NM_000786.4:c.468+424CA[16]	NM_000786.4:c.468+424CA[17]	NM_000786.4:c.468+424CA[18]	NM_000786.4:c.468+424CA[19]	NM_000786.4:c.468+424CA[20]	NM_000786.4:c.468+424CA[21]	NM_000786.4:c.468+424CA[22]	NM_000786.4:c.468+424CA[23]
CYP51A1 transcript variant 2	NM_001146152.1:c.153+451=	NM_001146152.1:c.153+424CA[7]	NM_001146152.1:c.153+424CA[8]	NM_001146152.1:c.153+424CA[9]	NM_001146152.1:c.153+424CA[10]	NM_001146152.1:c.153+424CA[11]	NM_001146152.1:c.153+424CA[12]	NM_001146152.1:c.153+424CA[13]	NM_001146152.1:c.153+424CA[15]	NM_001146152.1:c.153+424CA[16]	NM_001146152.1:c.153+424CA[17]	NM_001146152.1:c.153+424CA[18]	NM_001146152.1:c.153+424CA[19]	NM_001146152.1:c.153+424CA[20]	NM_001146152.1:c.153+424CA[21]	NM_001146152.1:c.153+424CA[22]	NM_001146152.1:c.153+424CA[23]
CYP51A1 transcript variant 2	NM_001146152.2:c.153+451=	NM_001146152.2:c.153+424CA[7]	NM_001146152.2:c.153+424CA[8]	NM_001146152.2:c.153+424CA[9]	NM_001146152.2:c.153+424CA[10]	NM_001146152.2:c.153+424CA[11]	NM_001146152.2:c.153+424CA[12]	NM_001146152.2:c.153+424CA[13]	NM_001146152.2:c.153+424CA[15]	NM_001146152.2:c.153+424CA[16]	NM_001146152.2:c.153+424CA[17]	NM_001146152.2:c.153+424CA[18]	NM_001146152.2:c.153+424CA[19]	NM_001146152.2:c.153+424CA[20]	NM_001146152.2:c.153+424CA[21]	NM_001146152.2:c.153+424CA[22]	NM_001146152.2:c.153+424CA[23]

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#.

49 SubSNP, 37 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BUSHMAN	ss193933500	Jul 04, 2010 (132)
2	LUNTER	ss551761560	Apr 25, 2013 (138)
3	SSMP	ss663808574	Apr 01, 2015 (144)
4	EVA_UK10K_ALSPAC	ss1705729966	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1705730051	Apr 01, 2015 (144)
6	SWEGEN	ss3001627699	Nov 08, 2017 (151)
7	SWEGEN	ss3001627700	Nov 08, 2017 (151)
8	SWEGEN	ss3001627701	Nov 08, 2017 (151)
9	MCHAISSO	ss3066157223	Nov 08, 2017 (151)
10	ACPOP	ss3734861051	Jul 13, 2019 (153)
11	ACPOP	ss3734861054	Jul 13, 2019 (153)
12	ACPOP	ss3734861056	Jul 13, 2019 (153)
13	KOGIC	ss3962088010	Apr 26, 2020 (154)
14	KOGIC	ss3962088011	Apr 26, 2020 (154)
15	KOGIC	ss3962088012	Apr 26, 2020 (154)
16	KOGIC	ss3962088013	Apr 26, 2020 (154)
17	KOGIC	ss3962088014	Apr 26, 2020 (154)
18	GNOMAD	ss4168466792	Apr 26, 2021 (155)
19	GNOMAD	ss4168466793	Apr 26, 2021 (155)
20	GNOMAD	ss4168466794	Apr 26, 2021 (155)
21	GNOMAD	ss4168466795	Apr 26, 2021 (155)
22	GNOMAD	ss4168466796	Apr 26, 2021 (155)
23	GNOMAD	ss4168466797	Apr 26, 2021 (155)
24	GNOMAD	ss4168466798	Apr 26, 2021 (155)
25	GNOMAD	ss4168466799	Apr 26, 2021 (155)
26	GNOMAD	ss4168466800	Apr 26, 2021 (155)
27	GNOMAD	ss4168466801	Apr 26, 2021 (155)
28	GNOMAD	ss4168466802	Apr 26, 2021 (155)
29	GNOMAD	ss4168466803	Apr 26, 2021 (155)
30	GNOMAD	ss4168466804	Apr 26, 2021 (155)
31	GNOMAD	ss4168466805	Apr 26, 2021 (155)
32	GNOMAD	ss4168466806	Apr 26, 2021 (155)
33	GNOMAD	ss4168466807	Apr 26, 2021 (155)
34	TOPMED	ss4754773079	Apr 26, 2021 (155)
35	TOPMED	ss4754773080	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5184430087	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5184430089	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5184430091	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5184430092	Apr 26, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5273856231	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5273856233	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5470843705	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5470843707	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5470843708	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5470843710	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5725069331	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5725069332	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5725069333	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5725069335	Oct 16, 2022 (156)
50	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 91757743	Oct 12, 2018 (152)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269141344 (NC_000007.14:92128428::TG 1876/131682) Row 269141345 (NC_000007.14:92128428::TGTG 12108/131602) Row 269141346 (NC_000007.14:92128428::TGTGTG 472/131704)...	-	Apr 26, 2021 (155)
67	Korean Genome Project Submission ignored due to conflicting rows: Row 18466011 (NC_000007.14:92128432::TGTGTGTG 114/1830) Row 18466012 (NC_000007.14:92128432::TGTGTGTGTG 406/1830) Row 18466013 (NC_000007.14:92128432::TGTGTGTGTGTG 41/1830)...	-	Apr 26, 2020 (154)
68	Korean Genome Project Submission ignored due to conflicting rows: Row 18466011 (NC_000007.14:92128432::TGTGTGTG 114/1830) Row 18466012 (NC_000007.14:92128432::TGTGTGTGTG 406/1830) Row 18466013 (NC_000007.14:92128432::TGTGTGTGTGTG 41/1830)...	-	Apr 26, 2020 (154)
69	Korean Genome Project Submission ignored due to conflicting rows: Row 18466011 (NC_000007.14:92128432::TGTGTGTG 114/1830) Row 18466012 (NC_000007.14:92128432::TGTGTGTGTG 406/1830) Row 18466013 (NC_000007.14:92128432::TGTGTGTGTGTG 41/1830)...	-	Apr 26, 2020 (154)
70	Korean Genome Project Submission ignored due to conflicting rows: Row 18466011 (NC_000007.14:92128432::TGTGTGTG 114/1830) Row 18466012 (NC_000007.14:92128432::TGTGTGTGTG 406/1830) Row 18466013 (NC_000007.14:92128432::TGTGTGTGTGTG 41/1830)...	-	Apr 26, 2020 (154)
71	Korean Genome Project Submission ignored due to conflicting rows: Row 18466011 (NC_000007.14:92128432::TGTGTGTG 114/1830) Row 18466012 (NC_000007.14:92128432::TGTGTGTGTG 406/1830) Row 18466013 (NC_000007.14:92128432::TGTGTGTGTGTG 41/1830)...	-	Apr 26, 2020 (154)
72	Northern Sweden Submission ignored due to conflicting rows: Row 8145916 (NC_000007.13:91757742::TGTG 45/600) Row 8145919 (NC_000007.13:91757742::TG 12/600) Row 8145921 (NC_000007.13:91757742::TGTGTGTGTG 14/600)	-	Jul 13, 2019 (153)
73	Northern Sweden Submission ignored due to conflicting rows: Row 8145916 (NC_000007.13:91757742::TGTG 45/600) Row 8145919 (NC_000007.13:91757742::TG 12/600) Row 8145921 (NC_000007.13:91757742::TGTGTGTGTG 14/600)	-	Jul 13, 2019 (153)
74	Northern Sweden Submission ignored due to conflicting rows: Row 8145916 (NC_000007.13:91757742::TGTG 45/600) Row 8145919 (NC_000007.13:91757742::TG 12/600) Row 8145921 (NC_000007.13:91757742::TGTGTGTGTG 14/600)	-	Jul 13, 2019 (153)
75	8.3KJPN Submission ignored due to conflicting rows: Row 42399394 (NC_000007.13:91757742::TGTGTG 1155/16720) Row 42399396 (NC_000007.13:91757742::TGTGTGTGTG 3106/16720) Row 42399398 (NC_000007.13:91757742::TGTGTGTG 821/16720)...	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 42399394 (NC_000007.13:91757742::TGTGTG 1155/16720) Row 42399396 (NC_000007.13:91757742::TGTGTGTGTG 3106/16720) Row 42399398 (NC_000007.13:91757742::TGTGTGTG 821/16720)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 42399394 (NC_000007.13:91757742::TGTGTG 1155/16720) Row 42399396 (NC_000007.13:91757742::TGTGTGTGTG 3106/16720) Row 42399398 (NC_000007.13:91757742::TGTGTGTG 821/16720)...	-	Apr 26, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 42399394 (NC_000007.13:91757742::TGTGTG 1155/16720) Row 42399396 (NC_000007.13:91757742::TGTGTGTGTG 3106/16720) Row 42399398 (NC_000007.13:91757742::TGTGTGTG 821/16720)...	-	Apr 26, 2021 (155)
79	14KJPN Submission ignored due to conflicting rows: Row 58906435 (NC_000007.14:92128428:TGTG: 1664/28240) Row 58906436 (NC_000007.14:92128428::TGTGTGTG 1434/28240) Row 58906437 (NC_000007.14:92128428::TGTGTG 1741/28240)...	-	Oct 16, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 58906435 (NC_000007.14:92128428:TGTG: 1664/28240) Row 58906436 (NC_000007.14:92128428::TGTGTGTG 1434/28240) Row 58906437 (NC_000007.14:92128428::TGTGTG 1741/28240)...	-	Oct 16, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 58906435 (NC_000007.14:92128428:TGTG: 1664/28240) Row 58906436 (NC_000007.14:92128428::TGTGTGTG 1434/28240) Row 58906437 (NC_000007.14:92128428::TGTGTG 1741/28240)...	-	Oct 16, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 58906435 (NC_000007.14:92128428:TGTG: 1664/28240) Row 58906436 (NC_000007.14:92128428::TGTGTGTG 1434/28240) Row 58906437 (NC_000007.14:92128428::TGTGTG 1741/28240)...	-	Oct 16, 2022 (156)
83	TopMed Submission ignored due to conflicting rows: Row 592150638 (NC_000007.14:92128428:TGTGTGTGTGTG: 3/264690) Row 592150639 (NC_000007.14:92128428:TGTGTGTGTGTGTG: 1/264690)	-	Apr 26, 2021 (155)
84	TopMed Submission ignored due to conflicting rows: Row 592150638 (NC_000007.14:92128428:TGTGTGTGTGTG: 3/264690) Row 592150639 (NC_000007.14:92128428:TGTGTGTGTGTGTG: 1/264690)	-	Apr 26, 2021 (155)
85	UK 10K study - Twins	NC_000007.13 - 91757743	Oct 12, 2018 (152)
86	ALFA	NC_000007.14 - 92128429	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
ss4168466807, ss4754773080	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTG:	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG	(self)
ss4168466806, ss4754773079	NC_000007.14:92128428:TGTGTGTGTGTG:	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG	(self)
ss4168466805	NC_000007.14:92128428:TGTGTGTGTG:	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG	(self)
ss4168466804	NC_000007.14:92128428:TGTGTGTG:	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG	(self)
ss4168466803	NC_000007.14:92128428:TGTGTG:	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG	(self)
ss663808574, ss5184430092	NC_000007.13:91757742:TGTG:	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss3066157223, ss3962088013, ss4168466802, ss5273856233, ss5470843707, ss5725069331	NC_000007.14:92128428:TGTG:	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss4168466801	NC_000007.14:92128428:TG:	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
21226749, 21226749, ss1705729966, ss1705730051, ss3001627700, ss3734861054	NC_000007.13:91757742::TG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss4168466792, ss5470843708	NC_000007.14:92128428::TG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss551761560	NC_000007.12:91595678::TGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss3001627699, ss3734861051	NC_000007.13:91757742::TGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss4168466793, ss5470843705	NC_000007.14:92128428::TGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss193933500	NT_007933.16:29621649::TGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss5184430087	NC_000007.13:91757742::TGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss4168466794, ss5725069333	NC_000007.14:92128428::TGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss3962088014	NC_000007.14:92128432::TGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss5184430091	NC_000007.13:91757742::TGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss4168466795, ss5725069332	NC_000007.14:92128428::TGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss3962088010	NC_000007.14:92128432::TGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss3001627701, ss3734861056, ss5184430089	NC_000007.13:91757742::TGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss4168466796, ss5273856231, ss5470843710, ss5725069335	NC_000007.14:92128428::TGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss3962088011	NC_000007.14:92128432::TGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss4168466797	NC_000007.14:92128428::TGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss3962088012	NC_000007.14:92128432::TGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss4168466798	NC_000007.14:92128428::TGTGTGTGTGT… NC_000007.14:92128428::TGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss4168466799	NC_000007.14:92128428::TGTGTGTGTGT… NC_000007.14:92128428::TGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
3729157487	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(self)
ss4168466800	NC_000007.14:92128428::TGTGTGTGTGT… NC_000007.14:92128428::TGTGTGTGTGTGTGTGTG	NC_000007.14:92128428:TGTGTGTGTGTG… NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(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 rs1554479142

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1554479142