Name: rs371927014
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.

rs371927014

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:106641968-106641970 (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: delAT / dupAT / ins(AT)₃ / ins(AT)…
delAT / dupAT / ins(AT)₃ / ins(AT)₃CTATAT / insATCTATAT / ins(ATCTAT)₂AT / ins(ATCTAT)₃AT / ins(ATCTAT)₄AT / ins(ATCTAT)₅CTATAT / ins(ATCTAT)₅(CTATAT)₂ / ins(ATCTAT)₄CTATAT / ins(ATCTAT)₄(CTATAT)₂ / ins(ATCTAT)₃CTATAT / ins(ATCTAT)₃(CTATAT)₂ / ins(ATCTATATCTATATCT)₂ATAT / ins(ATCTAT)₂CTATAT / ins(ATCTAT)₂C(TA)₃T / ins(ATCTAT)₂C(TA)₃TCTATAT / ins(ATCTAT)₂C(TA)₃(TCTATA)₂T / ins(ATCTAT)₂C(TA)₃(TCTATA)₃T / ins(ATCTATATCT)₂ATAT / ins(ATCTATATCT)₂ATATCTATAT / ins(ATCTATATCT)₂ATATCTATATCTATAT / ins(ATCT)₂ATAT / ins(ATCT)₂(AT)₃ / ins(ATCT)₂(AT)₃CTATAT / ins(ATCT)₂(AT)₃(CTATAT)₂ / ins(ATCT)₂ATATCTATAT / ins(ATCT)₂(ATATCT)₂ATAT / ins(ATCT)₂(ATATCT)₃ATAT / ins(ATCT)₂(ATATCT)₄ATAT
Variation Type: Indel Insertion and Deletion
Frequency: ins(ATCT)₂ATAT=0.00160 (21/13088, ALFA)
ins(ATCT)₂ATAT=0.007 (4/600, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RFX4 : Intron Variant
LOC100287944 : 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	HTRZ	HWEP
Total	Global	13088	TAT=0.99840	T=0.00000, TATAT=0.00000, TATATATAT=0.00000, TATATATATCTATAT=0.00000, TATATCTATAT=0.00000, TATATCTATATCTATAT=0.00000, TATATCTATATCTATATCTATCTATAT=0.00000, TATATCTATATCTATCTATAT=0.00000, TATATCTATATCTATCTATATAT=0.00000, TATATCTATATCTATCTATATATCTATAT=0.00000, TATATCTATATCTATCTATATCTATAT=0.00000, TATATCTATCTATAT=0.00160, TATATCTATCTATATAT=0.00000, TATATCTATCTATATATCTATAT=0.00000, TATATCTATCTATATCTATAT=0.00000	0.998177	0.001823	0
European	Sub	9479	TAT=0.9978	T=0.0000, TATAT=0.0000, TATATATAT=0.0000, TATATATATCTATAT=0.0000, TATATCTATAT=0.0000, TATATCTATATCTATAT=0.0000, TATATCTATATCTATATCTATCTATAT=0.0000, TATATCTATATCTATCTATAT=0.0000, TATATCTATATCTATCTATATAT=0.0000, TATATCTATATCTATCTATATATCTATAT=0.0000, TATATCTATATCTATCTATATCTATAT=0.0000, TATATCTATCTATAT=0.0022, TATATCTATCTATATAT=0.0000, TATATCTATCTATATATCTATAT=0.0000, TATATCTATCTATATCTATAT=0.0000	0.997399	0.002601	0
African	Sub	2260	TAT=1.0000	T=0.0000, TATAT=0.0000, TATATATAT=0.0000, TATATATATCTATAT=0.0000, TATATCTATAT=0.0000, TATATCTATATCTATAT=0.0000, TATATCTATATCTATATCTATCTATAT=0.0000, TATATCTATATCTATCTATAT=0.0000, TATATCTATATCTATCTATATAT=0.0000, TATATCTATATCTATCTATATATCTATAT=0.0000, TATATCTATATCTATCTATATCTATAT=0.0000, TATATCTATCTATAT=0.0000, TATATCTATCTATATAT=0.0000, TATATCTATCTATATATCTATAT=0.0000, TATATCTATCTATATCTATAT=0.0000	1.0	0.0	N/A
African Others	Sub	90	TAT=1.00	T=0.00, TATAT=0.00, TATATATAT=0.00, TATATATATCTATAT=0.00, TATATCTATAT=0.00, TATATCTATATCTATAT=0.00, TATATCTATATCTATATCTATCTATAT=0.00, TATATCTATATCTATCTATAT=0.00, TATATCTATATCTATCTATATAT=0.00, TATATCTATATCTATCTATATATCTATAT=0.00, TATATCTATATCTATCTATATCTATAT=0.00, TATATCTATCTATAT=0.00, TATATCTATCTATATAT=0.00, TATATCTATCTATATATCTATAT=0.00, TATATCTATCTATATCTATAT=0.00	1.0	0.0	N/A
African American	Sub	2170	TAT=1.0000	T=0.0000, TATAT=0.0000, TATATATAT=0.0000, TATATATATCTATAT=0.0000, TATATCTATAT=0.0000, TATATCTATATCTATAT=0.0000, TATATCTATATCTATATCTATCTATAT=0.0000, TATATCTATATCTATCTATAT=0.0000, TATATCTATATCTATCTATATAT=0.0000, TATATCTATATCTATCTATATATCTATAT=0.0000, TATATCTATATCTATCTATATCTATAT=0.0000, TATATCTATCTATAT=0.0000, TATATCTATCTATATAT=0.0000, TATATCTATCTATATATCTATAT=0.0000, TATATCTATCTATATCTATAT=0.0000	1.0	0.0	N/A
Asian	Sub	102	TAT=1.000	T=0.000, TATAT=0.000, TATATATAT=0.000, TATATATATCTATAT=0.000, TATATCTATAT=0.000, TATATCTATATCTATAT=0.000, TATATCTATATCTATATCTATCTATAT=0.000, TATATCTATATCTATCTATAT=0.000, TATATCTATATCTATCTATATAT=0.000, TATATCTATATCTATCTATATATCTATAT=0.000, TATATCTATATCTATCTATATCTATAT=0.000, TATATCTATCTATAT=0.000, TATATCTATCTATATAT=0.000, TATATCTATCTATATATCTATAT=0.000, TATATCTATCTATATCTATAT=0.000	1.0	0.0	N/A
East Asian	Sub	78	TAT=1.00	T=0.00, TATAT=0.00, TATATATAT=0.00, TATATATATCTATAT=0.00, TATATCTATAT=0.00, TATATCTATATCTATAT=0.00, TATATCTATATCTATATCTATCTATAT=0.00, TATATCTATATCTATCTATAT=0.00, TATATCTATATCTATCTATATAT=0.00, TATATCTATATCTATCTATATATCTATAT=0.00, TATATCTATATCTATCTATATCTATAT=0.00, TATATCTATCTATAT=0.00, TATATCTATCTATATAT=0.00, TATATCTATCTATATATCTATAT=0.00, TATATCTATCTATATCTATAT=0.00	1.0	0.0	N/A
Other Asian	Sub	24	TAT=1.00	T=0.00, TATAT=0.00, TATATATAT=0.00, TATATATATCTATAT=0.00, TATATCTATAT=0.00, TATATCTATATCTATAT=0.00, TATATCTATATCTATATCTATCTATAT=0.00, TATATCTATATCTATCTATAT=0.00, TATATCTATATCTATCTATATAT=0.00, TATATCTATATCTATCTATATATCTATAT=0.00, TATATCTATATCTATCTATATCTATAT=0.00, TATATCTATCTATAT=0.00, TATATCTATCTATATAT=0.00, TATATCTATCTATATATCTATAT=0.00, TATATCTATCTATATCTATAT=0.00	1.0	0.0	N/A
Latin American 1	Sub	138	TAT=1.000	T=0.000, TATAT=0.000, TATATATAT=0.000, TATATATATCTATAT=0.000, TATATCTATAT=0.000, TATATCTATATCTATAT=0.000, TATATCTATATCTATATCTATCTATAT=0.000, TATATCTATATCTATCTATAT=0.000, TATATCTATATCTATCTATATAT=0.000, TATATCTATATCTATCTATATATCTATAT=0.000, TATATCTATATCTATCTATATCTATAT=0.000, TATATCTATCTATAT=0.000, TATATCTATCTATATAT=0.000, TATATCTATCTATATATCTATAT=0.000, TATATCTATCTATATCTATAT=0.000	1.0	0.0	N/A
Latin American 2	Sub	590	TAT=1.000	T=0.000, TATAT=0.000, TATATATAT=0.000, TATATATATCTATAT=0.000, TATATCTATAT=0.000, TATATCTATATCTATAT=0.000, TATATCTATATCTATATCTATCTATAT=0.000, TATATCTATATCTATCTATAT=0.000, TATATCTATATCTATCTATATAT=0.000, TATATCTATATCTATCTATATATCTATAT=0.000, TATATCTATATCTATCTATATCTATAT=0.000, TATATCTATCTATAT=0.000, TATATCTATCTATATAT=0.000, TATATCTATCTATATATCTATAT=0.000, TATATCTATCTATATCTATAT=0.000	1.0	0.0	N/A
South Asian	Sub	88	TAT=1.00	T=0.00, TATAT=0.00, TATATATAT=0.00, TATATATATCTATAT=0.00, TATATCTATAT=0.00, TATATCTATATCTATAT=0.00, TATATCTATATCTATATCTATCTATAT=0.00, TATATCTATATCTATCTATAT=0.00, TATATCTATATCTATCTATATAT=0.00, TATATCTATATCTATCTATATATCTATAT=0.00, TATATCTATATCTATCTATATCTATAT=0.00, TATATCTATCTATAT=0.00, TATATCTATCTATATAT=0.00, TATATCTATCTATATATCTATAT=0.00, TATATCTATCTATATCTATAT=0.00	1.0	0.0	N/A
Other	Sub	431	TAT=1.000	T=0.000, TATAT=0.000, TATATATAT=0.000, TATATATATCTATAT=0.000, TATATCTATAT=0.000, TATATCTATATCTATAT=0.000, TATATCTATATCTATATCTATCTATAT=0.000, TATATCTATATCTATCTATAT=0.000, TATATCTATATCTATCTATATAT=0.000, TATATCTATATCTATCTATATATCTATAT=0.000, TATATCTATATCTATCTATATCTATAT=0.000, TATATCTATCTATAT=0.000, TATATCTATCTATATAT=0.000, TATATCTATCTATATATCTATAT=0.000, TATATCTATCTATATCTATAT=0.000	1.0	0.0	N/A

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	13088	TAT=0.99840	delAT=0.00000, dupAT=0.00000, ins(AT)₃=0.00000, ins(AT)₃CTATAT=0.00000, insATCTATAT=0.00000, ins(ATCTAT)₂AT=0.00000, ins(ATCTAT)₃CTATAT=0.00000, ins(ATCTAT)₂CTATAT=0.00000, ins(ATCTAT)₂C(TA)₃T=0.00000, ins(ATCTAT)₂C(TA)₃TCTATAT=0.00000, ins(ATCTATATCT)₂ATAT=0.00000, ins(ATCT)₂ATAT=0.00160, ins(ATCT)₂(AT)₃=0.00000, ins(ATCT)₂(AT)₃CTATAT=0.00000, ins(ATCT)₂ATATCTATAT=0.00000
Allele Frequency Aggregator	European	Sub	9479	TAT=0.9978	delAT=0.0000, dupAT=0.0000, ins(AT)₃=0.0000, ins(AT)₃CTATAT=0.0000, insATCTATAT=0.0000, ins(ATCTAT)₂AT=0.0000, ins(ATCTAT)₃CTATAT=0.0000, ins(ATCTAT)₂CTATAT=0.0000, ins(ATCTAT)₂C(TA)₃T=0.0000, ins(ATCTAT)₂C(TA)₃TCTATAT=0.0000, ins(ATCTATATCT)₂ATAT=0.0000, ins(ATCT)₂ATAT=0.0022, ins(ATCT)₂(AT)₃=0.0000, ins(ATCT)₂(AT)₃CTATAT=0.0000, ins(ATCT)₂ATATCTATAT=0.0000
Allele Frequency Aggregator	African	Sub	2260	TAT=1.0000	delAT=0.0000, dupAT=0.0000, ins(AT)₃=0.0000, ins(AT)₃CTATAT=0.0000, insATCTATAT=0.0000, ins(ATCTAT)₂AT=0.0000, ins(ATCTAT)₃CTATAT=0.0000, ins(ATCTAT)₂CTATAT=0.0000, ins(ATCTAT)₂C(TA)₃T=0.0000, ins(ATCTAT)₂C(TA)₃TCTATAT=0.0000, ins(ATCTATATCT)₂ATAT=0.0000, ins(ATCT)₂ATAT=0.0000, ins(ATCT)₂(AT)₃=0.0000, ins(ATCT)₂(AT)₃CTATAT=0.0000, ins(ATCT)₂ATATCTATAT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	590	TAT=1.000	delAT=0.000, dupAT=0.000, ins(AT)₃=0.000, ins(AT)₃CTATAT=0.000, insATCTATAT=0.000, ins(ATCTAT)₂AT=0.000, ins(ATCTAT)₃CTATAT=0.000, ins(ATCTAT)₂CTATAT=0.000, ins(ATCTAT)₂C(TA)₃T=0.000, ins(ATCTAT)₂C(TA)₃TCTATAT=0.000, ins(ATCTATATCT)₂ATAT=0.000, ins(ATCT)₂ATAT=0.000, ins(ATCT)₂(AT)₃=0.000, ins(ATCT)₂(AT)₃CTATAT=0.000, ins(ATCT)₂ATATCTATAT=0.000
Allele Frequency Aggregator	Other	Sub	431	TAT=1.000	delAT=0.000, dupAT=0.000, ins(AT)₃=0.000, ins(AT)₃CTATAT=0.000, insATCTATAT=0.000, ins(ATCTAT)₂AT=0.000, ins(ATCTAT)₃CTATAT=0.000, ins(ATCTAT)₂CTATAT=0.000, ins(ATCTAT)₂C(TA)₃T=0.000, ins(ATCTAT)₂C(TA)₃TCTATAT=0.000, ins(ATCTATATCT)₂ATAT=0.000, ins(ATCT)₂ATAT=0.000, ins(ATCT)₂(AT)₃=0.000, ins(ATCT)₂(AT)₃CTATAT=0.000, ins(ATCT)₂ATATCTATAT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	138	TAT=1.000	delAT=0.000, dupAT=0.000, ins(AT)₃=0.000, ins(AT)₃CTATAT=0.000, insATCTATAT=0.000, ins(ATCTAT)₂AT=0.000, ins(ATCTAT)₃CTATAT=0.000, ins(ATCTAT)₂CTATAT=0.000, ins(ATCTAT)₂C(TA)₃T=0.000, ins(ATCTAT)₂C(TA)₃TCTATAT=0.000, ins(ATCTATATCT)₂ATAT=0.000, ins(ATCT)₂ATAT=0.000, ins(ATCT)₂(AT)₃=0.000, ins(ATCT)₂(AT)₃CTATAT=0.000, ins(ATCT)₂ATATCTATAT=0.000
Allele Frequency Aggregator	Asian	Sub	102	TAT=1.000	delAT=0.000, dupAT=0.000, ins(AT)₃=0.000, ins(AT)₃CTATAT=0.000, insATCTATAT=0.000, ins(ATCTAT)₂AT=0.000, ins(ATCTAT)₃CTATAT=0.000, ins(ATCTAT)₂CTATAT=0.000, ins(ATCTAT)₂C(TA)₃T=0.000, ins(ATCTAT)₂C(TA)₃TCTATAT=0.000, ins(ATCTATATCT)₂ATAT=0.000, ins(ATCT)₂ATAT=0.000, ins(ATCT)₂(AT)₃=0.000, ins(ATCT)₂(AT)₃CTATAT=0.000, ins(ATCT)₂ATATCTATAT=0.000
Allele Frequency Aggregator	South Asian	Sub	88	TAT=1.00	delAT=0.00, dupAT=0.00, ins(AT)₃=0.00, ins(AT)₃CTATAT=0.00, insATCTATAT=0.00, ins(ATCTAT)₂AT=0.00, ins(ATCTAT)₃CTATAT=0.00, ins(ATCTAT)₂CTATAT=0.00, ins(ATCTAT)₂C(TA)₃T=0.00, ins(ATCTAT)₂C(TA)₃TCTATAT=0.00, ins(ATCTATATCT)₂ATAT=0.00, ins(ATCT)₂ATAT=0.00, ins(ATCT)₂(AT)₃=0.00, ins(ATCT)₂(AT)₃CTATAT=0.00, ins(ATCT)₂ATATCTATAT=0.00
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	ins(ATCT)₂ATAT=0.007

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 12	NC_000012.12:g.106641969_106641970del
GRCh38.p14 chr 12	NC_000012.12:g.106641969_106641970dup
GRCh38.p14 chr 12	NC_000012.12:g.106641969AT[4]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TA[4]TCTATAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TA[2]TCTATAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[2]TA[2]T[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[3]TA[2]T[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[4]TA[2]T[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[5]TATCTATAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[5]TATCTA[2]TAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[4]TATCTATAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[4]TATCTA[2]TAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[3]TATCTATAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[3]TATCTA[2]TAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[3]TATCTA[3]TAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[2]TATCTATAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[2]TATCTATATAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[2]TATCTATA[2]T[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[2]TATCTATA[2]TCTATAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[2]TATCTATA[2]TCTATA[2]T[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[2]TATCTA[2]TAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[2]TATCTA[3]TAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TATATC[2]TATCTA[4]TAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TA[2]T[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TA[2]TCTATAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATATC[2]TA[2]T[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATCTATAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATCTA[2]TAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATCTA[3]TAT[1]
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATCTA[4]TAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035747_107035748del
GRCh37.p13 chr 12	NC_000012.11:g.107035747_107035748dup
GRCh37.p13 chr 12	NC_000012.11:g.107035747AT[4]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TA[4]TCTATAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TA[2]TCTATAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[2]TA[2]T[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[3]TA[2]T[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[4]TA[2]T[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[5]TATCTATAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[5]TATCTA[2]TAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[4]TATCTATAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[4]TATCTA[2]TAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[3]TATCTATAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[3]TATCTA[2]TAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[3]TATCTA[3]TAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[2]TATCTATAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[2]TATCTATATAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[2]TATCTATA[2]T[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[2]TATCTATA[2]TCTATAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[2]TATCTATA[2]TCTATA[2]T[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[2]TATCTA[2]TAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[2]TATCTA[3]TAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TATATC[2]TATCTA[4]TAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TA[2]T[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TA[2]TCTATAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATATC[2]TA[2]T[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATCTATAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATCTA[2]TAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATCTA[3]TAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATCTA[4]TAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64063_64064del
RFX4 RefSeqGene	NG_047074.1:g.64063_64064dup
RFX4 RefSeqGene	NG_047074.1:g.64063AT[4]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TA[4]TCTATAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TA[2]TCTATAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[2]TA[2]T[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[3]TA[2]T[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[4]TA[2]T[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[5]TATCTATAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[5]TATCTA[2]TAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[4]TATCTATAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[4]TATCTA[2]TAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[3]TATCTATAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[3]TATCTA[2]TAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[3]TATCTA[3]TAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[2]TATCTATAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[2]TATCTATATAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[2]TATCTATA[2]T[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[2]TATCTATA[2]TCTATAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[2]TATCTATA[2]TCTATA[2]T[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[2]TATCTA[2]TAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[2]TATCTA[3]TAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TATATC[2]TATCTA[4]TAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TA[2]TCTA[2]TAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TA[2]TCTA[2]TA[2]T[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TA[2]TCTA[2]TA[2]TCTATAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TA[2]TCTA[2]TATATC[2]TA[2]T[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TA[2]TCTA[2]TATCTATAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TA[2]TCTA[2]TATCTA[2]TAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TA[2]TCTA[2]TATCTA[3]TAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064TA[2]TCTA[2]TATCTA[4]TAT[1]

Gene: RFX4, regulatory factor X4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RFX4 transcript variant 4	NM_001206691.2:c.218+2577… NM_001206691.2:c.218+2577_218+2578del	N/A	Intron Variant
RFX4 transcript variant 3	NM_213594.3:c.191+2577_19… NM_213594.3:c.191+2577_191+2578del	N/A	Intron Variant
RFX4 transcript variant 1	NM_032491.6:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC100287944, uncharacterized LOC100287944 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC100287944 transcript	NR_040246.1:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	TAT=	delAT	dupAT	ins(AT)₃	ins(AT)₃CTATAT	insATCTATAT	ins(ATCTAT)₂AT	ins(ATCTAT)₃AT	ins(ATCTAT)₄AT	ins(ATCTAT)₅CTATAT	ins(ATCTAT)₅(CTATAT)₂	ins(ATCTAT)₄CTATAT	ins(ATCTAT)₄(CTATAT)₂	ins(ATCTAT)₃CTATAT	ins(ATCTAT)₃(CTATAT)₂	ins(ATCTATATCTATATCT)₂ATAT	ins(ATCTAT)₂CTATAT	ins(ATCTAT)₂C(TA)₃T	ins(ATCTAT)₂C(TA)₃TCTATAT	ins(ATCTAT)₂C(TA)₃(TCTATA)₂T	ins(ATCTAT)₂C(TA)₃(TCTATA)₃T	ins(ATCTATATCT)₂ATAT	ins(ATCTATATCT)₂ATATCTATAT	ins(ATCTATATCT)₂ATATCTATATCTATAT	ins(ATCT)₂ATAT	ins(ATCT)₂(AT)₃	ins(ATCT)₂(AT)₃CTATAT	ins(ATCT)₂(AT)₃(CTATAT)₂	ins(ATCT)₂ATATCTATAT	ins(ATCT)₂(ATATCT)₂ATAT	ins(ATCT)₂(ATATCT)₃ATAT	ins(ATCT)₂(ATATCT)₄ATAT
GRCh38.p14 chr 12	NC_000012.12:g.106641968_106641970=	NC_000012.12:g.106641969_106641970del	NC_000012.12:g.106641969_106641970dup	NC_000012.12:g.106641969AT[4]	NC_000012.12:g.106641968_106641970TA[4]TCTATAT[1]	NC_000012.12:g.106641968_106641970TA[2]TCTATAT[1]	NC_000012.12:g.106641968_106641970TATATC[2]TA[2]T[1]	NC_000012.12:g.106641968_106641970TATATC[3]TA[2]T[1]	NC_000012.12:g.106641968_106641970TATATC[4]TA[2]T[1]	NC_000012.12:g.106641968_106641970TATATC[5]TATCTATAT[1]	NC_000012.12:g.106641968_106641970TATATC[5]TATCTA[2]TAT[1]	NC_000012.12:g.106641968_106641970TATATC[4]TATCTATAT[1]	NC_000012.12:g.106641968_106641970TATATC[4]TATCTA[2]TAT[1]	NC_000012.12:g.106641968_106641970TATATC[3]TATCTATAT[1]	NC_000012.12:g.106641968_106641970TATATC[3]TATCTA[2]TAT[1]	NC_000012.12:g.106641968_106641970TATATC[3]TATCTA[3]TAT[1]	NC_000012.12:g.106641968_106641970TATATC[2]TATCTATAT[1]	NC_000012.12:g.106641968_106641970TATATC[2]TATCTATATAT[1]	NC_000012.12:g.106641968_106641970TATATC[2]TATCTATA[2]T[1]	NC_000012.12:g.106641968_106641970TATATC[2]TATCTATA[2]TCTATAT[1]	NC_000012.12:g.106641968_106641970TATATC[2]TATCTATA[2]TCTATA[2]T[1]	NC_000012.12:g.106641968_106641970TATATC[2]TATCTA[2]TAT[1]	NC_000012.12:g.106641968_106641970TATATC[2]TATCTA[3]TAT[1]	NC_000012.12:g.106641968_106641970TATATC[2]TATCTA[4]TAT[1]	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TAT[1]	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TA[2]T[1]	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TA[2]TCTATAT[1]	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATATC[2]TA[2]T[1]	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATCTATAT[1]	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATCTA[2]TAT[1]	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATCTA[3]TAT[1]	NC_000012.12:g.106641968_106641970TA[2]TCTA[2]TATCTA[4]TAT[1]
GRCh37.p13 chr 12	NC_000012.11:g.107035746_107035748=	NC_000012.11:g.107035747_107035748del	NC_000012.11:g.107035747_107035748dup	NC_000012.11:g.107035747AT[4]	NC_000012.11:g.107035746_107035748TA[4]TCTATAT[1]	NC_000012.11:g.107035746_107035748TA[2]TCTATAT[1]	NC_000012.11:g.107035746_107035748TATATC[2]TA[2]T[1]	NC_000012.11:g.107035746_107035748TATATC[3]TA[2]T[1]	NC_000012.11:g.107035746_107035748TATATC[4]TA[2]T[1]	NC_000012.11:g.107035746_107035748TATATC[5]TATCTATAT[1]	NC_000012.11:g.107035746_107035748TATATC[5]TATCTA[2]TAT[1]	NC_000012.11:g.107035746_107035748TATATC[4]TATCTATAT[1]	NC_000012.11:g.107035746_107035748TATATC[4]TATCTA[2]TAT[1]	NC_000012.11:g.107035746_107035748TATATC[3]TATCTATAT[1]	NC_000012.11:g.107035746_107035748TATATC[3]TATCTA[2]TAT[1]	NC_000012.11:g.107035746_107035748TATATC[3]TATCTA[3]TAT[1]	NC_000012.11:g.107035746_107035748TATATC[2]TATCTATAT[1]	NC_000012.11:g.107035746_107035748TATATC[2]TATCTATATAT[1]	NC_000012.11:g.107035746_107035748TATATC[2]TATCTATA[2]T[1]	NC_000012.11:g.107035746_107035748TATATC[2]TATCTATA[2]TCTATAT[1]	NC_000012.11:g.107035746_107035748TATATC[2]TATCTATA[2]TCTATA[2]T[1]	NC_000012.11:g.107035746_107035748TATATC[2]TATCTA[2]TAT[1]	NC_000012.11:g.107035746_107035748TATATC[2]TATCTA[3]TAT[1]	NC_000012.11:g.107035746_107035748TATATC[2]TATCTA[4]TAT[1]	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TAT[1]	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TA[2]T[1]	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TA[2]TCTATAT[1]	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATATC[2]TA[2]T[1]	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATCTATAT[1]	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATCTA[2]TAT[1]	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATCTA[3]TAT[1]	NC_000012.11:g.107035746_107035748TA[2]TCTA[2]TATCTA[4]TAT[1]
RFX4 RefSeqGene	NG_047074.1:g.64062_64064=	NG_047074.1:g.64063_64064del	NG_047074.1:g.64063_64064dup	NG_047074.1:g.64063AT[4]	NG_047074.1:g.64062_64064TA[4]TCTATAT[1]	NG_047074.1:g.64062_64064TA[2]TCTATAT[1]	NG_047074.1:g.64062_64064TATATC[2]TA[2]T[1]	NG_047074.1:g.64062_64064TATATC[3]TA[2]T[1]	NG_047074.1:g.64062_64064TATATC[4]TA[2]T[1]	NG_047074.1:g.64062_64064TATATC[5]TATCTATAT[1]	NG_047074.1:g.64062_64064TATATC[5]TATCTA[2]TAT[1]	NG_047074.1:g.64062_64064TATATC[4]TATCTATAT[1]	NG_047074.1:g.64062_64064TATATC[4]TATCTA[2]TAT[1]	NG_047074.1:g.64062_64064TATATC[3]TATCTATAT[1]	NG_047074.1:g.64062_64064TATATC[3]TATCTA[2]TAT[1]	NG_047074.1:g.64062_64064TATATC[3]TATCTA[3]TAT[1]	NG_047074.1:g.64062_64064TATATC[2]TATCTATAT[1]	NG_047074.1:g.64062_64064TATATC[2]TATCTATATAT[1]	NG_047074.1:g.64062_64064TATATC[2]TATCTATA[2]T[1]	NG_047074.1:g.64062_64064TATATC[2]TATCTATA[2]TCTATAT[1]	NG_047074.1:g.64062_64064TATATC[2]TATCTATA[2]TCTATA[2]T[1]	NG_047074.1:g.64062_64064TATATC[2]TATCTA[2]TAT[1]	NG_047074.1:g.64062_64064TATATC[2]TATCTA[3]TAT[1]	NG_047074.1:g.64062_64064TATATC[2]TATCTA[4]TAT[1]	NG_047074.1:g.64062_64064TA[2]TCTA[2]TAT[1]	NG_047074.1:g.64062_64064TA[2]TCTA[2]TA[2]T[1]	NG_047074.1:g.64062_64064TA[2]TCTA[2]TA[2]TCTATAT[1]	NG_047074.1:g.64062_64064TA[2]TCTA[2]TATATC[2]TA[2]T[1]	NG_047074.1:g.64062_64064TA[2]TCTA[2]TATCTATAT[1]	NG_047074.1:g.64062_64064TA[2]TCTA[2]TATCTA[2]TAT[1]	NG_047074.1:g.64062_64064TA[2]TCTA[2]TATCTA[3]TAT[1]	NG_047074.1:g.64062_64064TA[2]TCTA[2]TATCTA[4]TAT[1]
RFX4 transcript variant 4	NM_001206691.1:c.218+2576=	NM_001206691.1:c.218+2577_218+2578del	NM_001206691.1:c.218+2577_218+2578dup	NM_001206691.1:c.218+2578_218+2579insATATAT	NM_001206691.1:c.218+2578_218+2579insATATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATATCTATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATATCTATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATATCTATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATATCTATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATATCTATCTATATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATCTATATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATCTATATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATCTATATATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATCTATATATCTATATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATCTATATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATATCTATCTATATCTATATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATCTATATAT	NM_001206691.1:c.218+2578_218+2579insATCTATCTATATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATCTATATATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATCTATATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATCTATATCTATATCTATATCTATAT	NM_001206691.1:c.218+2578_218+2579insATCTATCTATATCTATATCTATATCTATATCTATAT
RFX4 transcript variant 4	NM_001206691.2:c.218+2576=	NM_001206691.2:c.218+2577_218+2578del	NM_001206691.2:c.218+2577_218+2578dup	NM_001206691.2:c.218+2578_218+2579insATATAT	NM_001206691.2:c.218+2578_218+2579insATATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATATCTATATCTATATCTATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATATCTATATCTATATCTATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATATCTATATCTATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATATCTATATCTATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATATCTATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATATCTATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATATCTATCTATATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATCTATATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATCTATATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATCTATATATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATCTATATATCTATATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATCTATATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATATCTATCTATATCTATATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATCTATATAT	NM_001206691.2:c.218+2578_218+2579insATCTATCTATATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATCTATATATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATCTATATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATCTATATCTATATCTATATCTATAT	NM_001206691.2:c.218+2578_218+2579insATCTATCTATATCTATATCTATATCTATATCTATAT
RFX4 transcript variant 3	NM_213594.2:c.191+2576=	NM_213594.2:c.191+2577_191+2578del	NM_213594.2:c.191+2577_191+2578dup	NM_213594.2:c.191+2578_191+2579insATATAT	NM_213594.2:c.191+2578_191+2579insATATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATATCTATATCTATATCTATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATATCTATATCTATATCTATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATATCTATATCTATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATATCTATATCTATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATATCTATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATATCTATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATATCTATCTATATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATCTATATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATCTATATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATCTATATATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATCTATATATCTATATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATCTATATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATATCTATCTATATCTATATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATCTATATAT	NM_213594.2:c.191+2578_191+2579insATCTATCTATATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATCTATATATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATCTATATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATCTATATCTATATCTATATCTATAT	NM_213594.2:c.191+2578_191+2579insATCTATCTATATCTATATCTATATCTATATCTATAT
RFX4 transcript variant 3	NM_213594.3:c.191+2576=	NM_213594.3:c.191+2577_191+2578del	NM_213594.3:c.191+2577_191+2578dup	NM_213594.3:c.191+2578_191+2579insATATAT	NM_213594.3:c.191+2578_191+2579insATATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATATCTATATCTATATCTATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATATCTATATCTATATCTATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATATCTATATCTATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATATCTATATCTATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATATCTATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATATCTATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATATCTATCTATATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATCTATATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATCTATATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATCTATATATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATCTATATATCTATATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATCTATATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATATCTATCTATATCTATATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATCTATATAT	NM_213594.3:c.191+2578_191+2579insATCTATCTATATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATCTATATATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATCTATATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATCTATATCTATATCTATATCTATAT	NM_213594.3:c.191+2578_191+2579insATCTATCTATATCTATATCTATATCTATATCTATAT
RFX4 transcript variant X1	XM_005269067.1:c.218+2576=	XM_005269067.1:c.218+2577_218+2578del	XM_005269067.1:c.218+2577_218+2578dup	XM_005269067.1:c.218+2578_218+2579insATATAT	XM_005269067.1:c.218+2578_218+2579insATATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATATCTATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATATCTATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATATCTATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATATCTATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATATCTATCTATATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATCTATATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATCTATATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATCTATATATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATCTATATATCTATATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATCTATATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATATCTATCTATATCTATATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATCTATATAT	XM_005269067.1:c.218+2578_218+2579insATCTATCTATATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATCTATATATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATCTATATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATCTATATCTATATCTATATCTATAT	XM_005269067.1:c.218+2578_218+2579insATCTATCTATATCTATATCTATATCTATATCTATAT
RFX4 transcript variant X3	XM_005269069.1:c.218+2576=	XM_005269069.1:c.218+2577_218+2578del	XM_005269069.1:c.218+2577_218+2578dup	XM_005269069.1:c.218+2578_218+2579insATATAT	XM_005269069.1:c.218+2578_218+2579insATATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATATCTATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATATCTATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATATCTATATCTATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATATCTATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATATCTATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATATCTATCTATATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATCTATATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATCTATATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATCTATATATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATCTATATATCTATATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATCTATATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATATCTATCTATATCTATATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATCTATATAT	XM_005269069.1:c.218+2578_218+2579insATCTATCTATATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATCTATATATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATCTATATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATCTATATCTATATCTATATCTATAT	XM_005269069.1:c.218+2578_218+2579insATCTATCTATATCTATATCTATATCTATATCTATAT

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#.

33 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	DDI	ss1536741696	Apr 01, 2015 (144)
2	ACPOP	ss3739357771	Jul 13, 2019 (153)
3	GNOMAD	ss4258496085	Apr 26, 2021 (155)
4	GNOMAD	ss4258496086	Apr 26, 2021 (155)
5	GNOMAD	ss4258496087	Apr 26, 2021 (155)
6	GNOMAD	ss4258496088	Apr 26, 2021 (155)
7	GNOMAD	ss4258496089	Apr 26, 2021 (155)
8	GNOMAD	ss4258496090	Apr 26, 2021 (155)
9	GNOMAD	ss4258496091	Apr 26, 2021 (155)
10	GNOMAD	ss4258496092	Apr 26, 2021 (155)
11	GNOMAD	ss4258496093	Apr 26, 2021 (155)
12	GNOMAD	ss4258496094	Apr 26, 2021 (155)
13	GNOMAD	ss4258496095	Apr 26, 2021 (155)
14	GNOMAD	ss4258496096	Apr 26, 2021 (155)
15	GNOMAD	ss4258496097	Apr 26, 2021 (155)
16	GNOMAD	ss4258496098	Apr 26, 2021 (155)
17	GNOMAD	ss4258496099	Apr 26, 2021 (155)
18	GNOMAD	ss4258496100	Apr 26, 2021 (155)
19	GNOMAD	ss4258496101	Apr 26, 2021 (155)
20	GNOMAD	ss4258496102	Apr 26, 2021 (155)
21	GNOMAD	ss4258496103	Apr 26, 2021 (155)
22	GNOMAD	ss4258496104	Apr 26, 2021 (155)
23	GNOMAD	ss4258496105	Apr 26, 2021 (155)
24	GNOMAD	ss4258496106	Apr 26, 2021 (155)
25	GNOMAD	ss4258496107	Apr 26, 2021 (155)
26	GNOMAD	ss4258496108	Apr 26, 2021 (155)
27	GNOMAD	ss4258496109	Apr 26, 2021 (155)
28	GNOMAD	ss4258496110	Apr 26, 2021 (155)
29	GNOMAD	ss4258496111	Apr 26, 2021 (155)
30	GNOMAD	ss4258496112	Apr 26, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5292131806	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5486744974	Oct 16, 2022 (156)
33	HUGCELL_USP	ss5486744979	Oct 16, 2022 (156)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418476123 (NC_000012.12:106641967::TA 3934/124070) Row 418476124 (NC_000012.12:106641967::TATATATATCTA 6/124234) Row 418476125 (NC_000012.12:106641967::TATATCTA 51/124234)...	-	Apr 26, 2021 (155)
62	Northern Sweden	NC_000012.11 - 107035746	Jul 13, 2019 (153)
63	ALFA	NC_000012.12 - 106641968	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
10477697213	NC_000012.12:106641967:TAT:T	NC_000012.12:106641967:TAT:T	(self)
ss1536741696	NC_000012.11:107035745::TA	NC_000012.12:106641967:TAT:TATAT	(self)
ss4258496085, ss5292131806, ss5486744974	NC_000012.12:106641967::TA	NC_000012.12:106641967:TAT:TATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATAT	NC_000012.12:106641967:TAT:TATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATAT… NC_000012.12:106641967:TAT:TATATATAT	NC_000012.12:106641967:TAT:TATATAT… NC_000012.12:106641967:TAT:TATATATAT	(self)
ss4258496086	NC_000012.12:106641967::TATATATATC… NC_000012.12:106641967::TATATATATCTA	NC_000012.12:106641967:TAT:TATATAT… NC_000012.12:106641967:TAT:TATATATATCTATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATAT… NC_000012.12:106641967:TAT:TATATATATCTATAT	NC_000012.12:106641967:TAT:TATATAT… NC_000012.12:106641967:TAT:TATATATATCTATAT	(self)
ss4258496087	NC_000012.12:106641967::TATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATAT	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATAT	(self)
ss4258496088	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATAT	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATAT	(self)
ss4258496089	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATAT	(self)
ss4258496090	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATATCTATAT	(self)
ss4258496091	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATATCTATATCTATATCTATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATATCTATATCTATCTATAT	(self)
ss4258496092	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATATCTATATCTATATCTATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATATCTATATCTATCTATATCTATAT	(self)
ss4258496093	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATATCTATATCTATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATATCTATCTATAT	(self)
ss4258496094	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATATCTATATCTATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATATCTATCTATATCTATAT	(self)
ss4258496095	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATATCTATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATCTATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATCTATAT	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATCTATAT	(self)
ss4258496096	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATATCTATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATCTATATCTATAT	(self)
ss4258496097	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATATCTATCTATATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATATCTATCTATATCTATATCTATAT	(self)
ss4258496098	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATAT	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATAT	(self)
ss4258496099	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATCTATA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATAT	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATAT	(self)
ss4258496100	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATCTATATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATATCTATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATATCTATAT	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATATCTATAT	(self)
ss4258496101	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATCTATATATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATATCTATATCTATAT	(self)
ss4258496102	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATCTATATATCTATATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATATCTATATCTATATCTATAT	(self)
ss4258496103	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATCTATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATCTATAT	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATCTATAT	(self)
ss4258496104	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATCTATATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATCTATATCTATAT	(self)
ss4258496105	NC_000012.12:106641967::TATATCTATA… NC_000012.12:106641967::TATATCTATATCTATCTATATCTATATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATATCTATCTATATCTATATCTATATCTATAT	(self)
12642636, ss3739357771	NC_000012.11:107035745::TATATCTATC… NC_000012.11:107035745::TATATCTATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATAT	(self)
ss4258496106, ss5486744979	NC_000012.12:106641967::TATATCTATC… NC_000012.12:106641967::TATATCTATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATAT	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATAT	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATAT	(self)
ss4258496107	NC_000012.12:106641967::TATATCTATC… NC_000012.12:106641967::TATATCTATCTATATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATATCTATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATATCTATAT	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATATCTATAT	(self)
ss4258496108	NC_000012.12:106641967::TATATCTATC… NC_000012.12:106641967::TATATCTATCTATATATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATATCTATATCTATAT	(self)
ss4258496109	NC_000012.12:106641967::TATATCTATC… NC_000012.12:106641967::TATATCTATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATCTATAT	(self)
10477697213	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATCTATAT	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATCTATAT	(self)
ss4258496110	NC_000012.12:106641967::TATATCTATC… NC_000012.12:106641967::TATATCTATCTATATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATCTATATCTATAT	(self)
ss4258496111	NC_000012.12:106641967::TATATCTATC… NC_000012.12:106641967::TATATCTATCTATATCTATATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATCTATATCTATATCTATAT	(self)
ss4258496112	NC_000012.12:106641967::TATATCTATC… NC_000012.12:106641967::TATATCTATCTATATCTATATCTATATCTATATCTA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATCTATATCTATATCTATATCTATAT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3180895213	NC_000012.12:106641967::TATATCTATC… NC_000012.12:106641967::TATATCTATCTATA	NC_000012.12:106641967:TAT:TATATCT… NC_000012.12:106641967:TAT:TATATCTATCTATATAT
ss3180895219	NC_000012.12:106641967:TA:	NC_000012.12:106641967:TAT:T

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

No publications for rs371927014

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

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs371927014