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dbSNP Short Genetic Variations

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.

rs773085937

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:133512723 (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
G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/251262, GnomAD_exome)
T=0.000008 (1/121392, ExAC)
C=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
EYA4 : Missense Variant
TARID : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 10680 G=1.00000 C=0.00000
European Sub 6962 G=1.0000 C=0.0000
African Sub 2294 G=1.0000 C=0.0000
African Others Sub 84 G=1.00 C=0.00
African American Sub 2210 G=1.0000 C=0.0000
Asian Sub 108 G=1.000 C=0.000
East Asian Sub 84 G=1.00 C=0.00
Other Asian Sub 24 G=1.00 C=0.00
Latin American 1 Sub 146 G=1.000 C=0.000
Latin American 2 Sub 610 G=1.000 C=0.000
South Asian Sub 94 G=1.00 C=0.00
Other Sub 466 G=1.000 C=0.000


Help

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
gnomAD - Exomes Global Study-wide 251262 G=0.999996 T=0.000004
gnomAD - Exomes European Sub 135208 G=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 49002 G=1.00000 T=0.00000
gnomAD - Exomes American Sub 34592 G=0.99997 T=0.00003
gnomAD - Exomes African Sub 16256 G=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10074 G=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6130 G=1.0000 T=0.0000
ExAC Global Study-wide 121392 G=0.999992 T=0.000008
ExAC Europe Sub 73348 G=1.00000 T=0.00000
ExAC Asian Sub 25158 G=1.00000 T=0.00000
ExAC American Sub 11576 G=0.99991 T=0.00009
ExAC African Sub 10402 G=1.00000 T=0.00000
ExAC Other Sub 908 G=1.000 T=0.000
Allele Frequency Aggregator Total Global 10680 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 C=0.00
Help

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 6 NC_000006.12:g.133512723G>C
GRCh38.p14 chr 6 NC_000006.12:g.133512723G>T
GRCh37.p13 chr 6 NC_000006.11:g.133833861G>C
GRCh37.p13 chr 6 NC_000006.11:g.133833861G>T
EYA4 RefSeqGene (LRG_418) NG_011596.2:g.276367G>C
EYA4 RefSeqGene (LRG_418) NG_011596.2:g.276367G>T
Gene: EYA4, EYA transcriptional coactivator and phosphatase 4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EYA4 transcript variant 1 NM_004100.5:c.1284G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform a NP_004091.3:p.Glu428Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 1 NM_004100.5:c.1284G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform a NP_004091.3:p.Glu428Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 7 NM_001370458.1:c.1215G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform g NP_001357387.1:p.Glu405Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 7 NM_001370458.1:c.1215G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform g NP_001357387.1:p.Glu405Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 8 NM_001370459.1:c.1140G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform h NP_001357388.1:p.Glu380Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 8 NM_001370459.1:c.1140G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform h NP_001357388.1:p.Glu380Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 2 NM_172103.4:c.1215G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform b NP_742101.2:p.Glu405Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 2 NM_172103.4:c.1215G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform b NP_742101.2:p.Glu405Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 6 NM_001301013.2:c.1302G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform f NP_001287942.1:p.Glu434Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 6 NM_001301013.2:c.1302G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform f NP_001287942.1:p.Glu434Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 4 NM_172105.4:c.1284G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform d NP_742103.1:p.Glu428Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 4 NM_172105.4:c.1284G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform d NP_742103.1:p.Glu428Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 5 NM_001301012.2:c.1122G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform e NP_001287941.1:p.Glu374Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant 5 NM_001301012.2:c.1122G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform e NP_001287941.1:p.Glu374Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X1 XM_017010368.3:c.1302G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X1 XP_016865857.1:p.Glu434Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X1 XM_017010368.3:c.1302G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X1 XP_016865857.1:p.Glu434Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X2 XM_017010369.3:c.1284G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X2 XP_016865858.1:p.Glu428Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X2 XM_017010369.3:c.1284G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X2 XP_016865858.1:p.Glu428Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X3 XM_005266851.6:c.1302G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X3 XP_005266908.1:p.Glu434Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X3 XM_005266851.6:c.1302G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X3 XP_005266908.1:p.Glu434Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X4 XM_047418275.1:c.1233G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X4 XP_047274231.1:p.Glu411Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X4 XM_047418275.1:c.1233G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X4 XP_047274231.1:p.Glu411Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X5 XM_017010371.3:c.1218G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X5 XP_016865860.1:p.Glu406Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X5 XM_017010371.3:c.1218G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X5 XP_016865860.1:p.Glu406Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X6 XM_047418276.1:c.1215G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X6 XP_047274232.1:p.Glu405Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X6 XM_047418276.1:c.1215G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X6 XP_047274232.1:p.Glu405Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X7 XM_047418277.1:c.1302G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X7 XP_047274233.1:p.Glu434Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X7 XM_047418277.1:c.1302G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X7 XP_047274233.1:p.Glu434Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X8 XM_047418278.1:c.1233G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X8 XP_047274234.1:p.Glu411Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X8 XM_047418278.1:c.1233G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X8 XP_047274234.1:p.Glu411Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X9 XM_047418279.1:c.1233G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X9 XP_047274235.1:p.Glu411Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X9 XM_047418279.1:c.1233G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X9 XP_047274235.1:p.Glu411Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X10 XM_047418280.1:c.1200G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X10 XP_047274236.1:p.Glu400Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X10 XM_047418280.1:c.1200G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X10 XP_047274236.1:p.Glu400Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X11 XM_047418281.1:c.1218G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X11 XP_047274237.1:p.Glu406Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X11 XM_047418281.1:c.1218G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X11 XP_047274237.1:p.Glu406Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X12 XM_047418282.1:c.1215G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X12 XP_047274238.1:p.Glu405Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X12 XM_047418282.1:c.1215G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X12 XP_047274238.1:p.Glu405Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X13 XM_047418283.1:c.1200G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X13 XP_047274239.1:p.Glu400Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X13 XM_047418283.1:c.1200G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X13 XP_047274239.1:p.Glu400Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X14 XM_047418284.1:c.1200G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X14 XP_047274240.1:p.Glu400Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X14 XM_047418284.1:c.1200G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X14 XP_047274240.1:p.Glu400Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X15 XM_047418285.1:c.1140G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X15 XP_047274241.1:p.Glu380Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X15 XM_047418285.1:c.1140G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X15 XP_047274241.1:p.Glu380Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X16 XM_017010373.3:c.1122G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X16 XP_016865862.1:p.Glu374Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X16 XM_017010373.3:c.1122G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X16 XP_016865862.1:p.Glu374Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X17 XM_017010374.3:c.1140G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X17 XP_016865863.1:p.Glu380Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X17 XM_017010374.3:c.1140G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X17 XP_016865863.1:p.Glu380Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X18 XM_047418286.1:c.1140G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X18 XP_047274242.1:p.Glu380Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X18 XM_047418286.1:c.1140G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X18 XP_047274242.1:p.Glu380Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X19 XM_047418287.1:c.1122G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X19 XP_047274243.1:p.Glu374Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X19 XM_047418287.1:c.1122G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X19 XP_047274243.1:p.Glu374Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X20 XM_047418288.1:c.1122G>C E [GAG] > D [GAC] Coding Sequence Variant
eyes absent homolog 4 isoform X20 XP_047274244.1:p.Glu374Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X20 XM_047418288.1:c.1122G>T E [GAG] > D [GAT] Coding Sequence Variant
eyes absent homolog 4 isoform X20 XP_047274244.1:p.Glu374Asp E (Glu) > D (Asp) Missense Variant
EYA4 transcript variant X21 XR_001743219.3:n.1760G>C N/A Non Coding Transcript Variant
EYA4 transcript variant X21 XR_001743219.3:n.1760G>T N/A Non Coding Transcript Variant
EYA4 transcript variant X22 XR_001743220.3:n.1742G>C N/A Non Coding Transcript Variant
EYA4 transcript variant X22 XR_001743220.3:n.1742G>T N/A Non Coding Transcript Variant
EYA4 transcript variant X23 XR_007059221.1:n.1691G>C N/A Non Coding Transcript Variant
EYA4 transcript variant X23 XR_007059221.1:n.1691G>T N/A Non Coding Transcript Variant
Gene: TARID, TCF21 antisense RNA inducing promoter demethylation (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TARID transcript NR_109982.1:n. N/A Intron Variant
Help

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
Help

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

Placement G= C T
GRCh38.p14 chr 6 NC_000006.12:g.133512723= NC_000006.12:g.133512723G>C NC_000006.12:g.133512723G>T
GRCh37.p13 chr 6 NC_000006.11:g.133833861= NC_000006.11:g.133833861G>C NC_000006.11:g.133833861G>T
EYA4 RefSeqGene (LRG_418) NG_011596.2:g.276367= NG_011596.2:g.276367G>C NG_011596.2:g.276367G>T
EYA4 transcript variant 1 NM_004100.5:c.1284= NM_004100.5:c.1284G>C NM_004100.5:c.1284G>T
EYA4 transcript variant 1 NM_004100.4:c.1284= NM_004100.4:c.1284G>C NM_004100.4:c.1284G>T
EYA4 transcript variant 4 NM_172105.4:c.1284= NM_172105.4:c.1284G>C NM_172105.4:c.1284G>T
EYA4 transcript variant 4 NM_172105.3:c.1284= NM_172105.3:c.1284G>C NM_172105.3:c.1284G>T
EYA4 transcript variant 2 NM_172103.4:c.1215= NM_172103.4:c.1215G>C NM_172103.4:c.1215G>T
EYA4 transcript variant 2 NM_172103.3:c.1215= NM_172103.3:c.1215G>C NM_172103.3:c.1215G>T
EYA4 transcript variant 6 NM_001301013.2:c.1302= NM_001301013.2:c.1302G>C NM_001301013.2:c.1302G>T
EYA4 transcript variant 6 NM_001301013.1:c.1302= NM_001301013.1:c.1302G>C NM_001301013.1:c.1302G>T
EYA4 transcript variant 5 NM_001301012.2:c.1122= NM_001301012.2:c.1122G>C NM_001301012.2:c.1122G>T
EYA4 transcript variant 5 NM_001301012.1:c.1122= NM_001301012.1:c.1122G>C NM_001301012.1:c.1122G>T
EYA4 transcript variant 7 NM_001370458.1:c.1215= NM_001370458.1:c.1215G>C NM_001370458.1:c.1215G>T
EYA4 transcript variant 8 NM_001370459.1:c.1140= NM_001370459.1:c.1140G>C NM_001370459.1:c.1140G>T
EYA4 transcript variant X3 XM_005266851.6:c.1302= XM_005266851.6:c.1302G>C XM_005266851.6:c.1302G>T
EYA4 transcript variant X3 XM_005266851.5:c.1302= XM_005266851.5:c.1302G>C XM_005266851.5:c.1302G>T
EYA4 transcript variant X3 XM_005266851.4:c.1302= XM_005266851.4:c.1302G>C XM_005266851.4:c.1302G>T
EYA4 transcript variant X1 XM_005266851.3:c.1302= XM_005266851.3:c.1302G>C XM_005266851.3:c.1302G>T
EYA4 transcript variant X2 XM_005266851.2:c.1302= XM_005266851.2:c.1302G>C XM_005266851.2:c.1302G>T
EYA4 transcript variant X2 XM_005266851.1:c.1302= XM_005266851.1:c.1302G>C XM_005266851.1:c.1302G>T
EYA4 transcript variant X2 XM_017010369.3:c.1284= XM_017010369.3:c.1284G>C XM_017010369.3:c.1284G>T
EYA4 transcript variant X2 XM_017010369.2:c.1284= XM_017010369.2:c.1284G>C XM_017010369.2:c.1284G>T
EYA4 transcript variant X2 XM_017010369.1:c.1284= XM_017010369.1:c.1284G>C XM_017010369.1:c.1284G>T
EYA4 transcript variant X1 XM_017010368.3:c.1302= XM_017010368.3:c.1302G>C XM_017010368.3:c.1302G>T
EYA4 transcript variant X1 XM_017010368.2:c.1302= XM_017010368.2:c.1302G>C XM_017010368.2:c.1302G>T
EYA4 transcript variant X1 XM_017010368.1:c.1302= XM_017010368.1:c.1302G>C XM_017010368.1:c.1302G>T
EYA4 transcript variant X5 XM_017010371.3:c.1218= XM_017010371.3:c.1218G>C XM_017010371.3:c.1218G>T
EYA4 transcript variant X5 XM_017010371.2:c.1218= XM_017010371.2:c.1218G>C XM_017010371.2:c.1218G>T
EYA4 transcript variant X5 XM_017010371.1:c.1218= XM_017010371.1:c.1218G>C XM_017010371.1:c.1218G>T
EYA4 transcript variant X16 XM_017010373.3:c.1122= XM_017010373.3:c.1122G>C XM_017010373.3:c.1122G>T
EYA4 transcript variant X8 XM_017010373.2:c.1122= XM_017010373.2:c.1122G>C XM_017010373.2:c.1122G>T
EYA4 transcript variant X8 XM_017010373.1:c.1122= XM_017010373.1:c.1122G>C XM_017010373.1:c.1122G>T
EYA4 transcript variant X17 XM_017010374.3:c.1140= XM_017010374.3:c.1140G>C XM_017010374.3:c.1140G>T
EYA4 transcript variant X9 XM_017010374.2:c.1140= XM_017010374.2:c.1140G>C XM_017010374.2:c.1140G>T
EYA4 transcript variant X9 XM_017010374.1:c.1140= XM_017010374.1:c.1140G>C XM_017010374.1:c.1140G>T
EYA4 transcript variant X21 XR_001743219.3:n.1760= XR_001743219.3:n.1760G>C XR_001743219.3:n.1760G>T
EYA4 transcript variant X11 XR_001743219.2:n.1464= XR_001743219.2:n.1464G>C XR_001743219.2:n.1464G>T
EYA4 transcript variant X11 XR_001743219.1:n.1467= XR_001743219.1:n.1467G>C XR_001743219.1:n.1467G>T
EYA4 transcript variant X22 XR_001743220.3:n.1742= XR_001743220.3:n.1742G>C XR_001743220.3:n.1742G>T
EYA4 transcript variant X12 XR_001743220.2:n.1446= XR_001743220.2:n.1446G>C XR_001743220.2:n.1446G>T
EYA4 transcript variant X12 XR_001743220.1:n.1449= XR_001743220.1:n.1449G>C XR_001743220.1:n.1449G>T
EYA4 transcript variant X7 XM_047418277.1:c.1302= XM_047418277.1:c.1302G>C XM_047418277.1:c.1302G>T
EYA4 transcript variant X4 XM_047418275.1:c.1233= XM_047418275.1:c.1233G>C XM_047418275.1:c.1233G>T
EYA4 transcript variant X10 XM_047418280.1:c.1200= XM_047418280.1:c.1200G>C XM_047418280.1:c.1200G>T
EYA4 transcript variant X6 XM_047418276.1:c.1215= XM_047418276.1:c.1215G>C XM_047418276.1:c.1215G>T
EYA4 transcript variant X15 XM_047418285.1:c.1140= XM_047418285.1:c.1140G>C XM_047418285.1:c.1140G>T
EYA4 transcript variant X11 XM_047418281.1:c.1218= XM_047418281.1:c.1218G>C XM_047418281.1:c.1218G>T
EYA4 transcript variant X9 XM_047418279.1:c.1233= XM_047418279.1:c.1233G>C XM_047418279.1:c.1233G>T
EYA4 transcript variant X8 XM_047418278.1:c.1233= XM_047418278.1:c.1233G>C XM_047418278.1:c.1233G>T
EYA4 transcript variant X14 XM_047418284.1:c.1200= XM_047418284.1:c.1200G>C XM_047418284.1:c.1200G>T
EYA4 transcript variant X13 XM_047418283.1:c.1200= XM_047418283.1:c.1200G>C XM_047418283.1:c.1200G>T
EYA4 transcript variant X12 XM_047418282.1:c.1215= XM_047418282.1:c.1215G>C XM_047418282.1:c.1215G>T
EYA4 transcript variant X19 XM_047418287.1:c.1122= XM_047418287.1:c.1122G>C XM_047418287.1:c.1122G>T
EYA4 transcript variant X18 XM_047418286.1:c.1140= XM_047418286.1:c.1140G>C XM_047418286.1:c.1140G>T
EYA4 transcript variant X20 XM_047418288.1:c.1122= XM_047418288.1:c.1122G>C XM_047418288.1:c.1122G>T
EYA4 transcript variant 3 NM_172104.1:c.1284= NM_172104.1:c.1284G>C NM_172104.1:c.1284G>T
EYA4 transcript variant X23 XR_007059221.1:n.1691= XR_007059221.1:n.1691G>C XR_007059221.1:n.1691G>T
eyes absent homolog 4 isoform a NP_004091.3:p.Glu428= NP_004091.3:p.Glu428Asp NP_004091.3:p.Glu428Asp
eyes absent homolog 4 isoform d NP_742103.1:p.Glu428= NP_742103.1:p.Glu428Asp NP_742103.1:p.Glu428Asp
eyes absent homolog 4 isoform b NP_742101.2:p.Glu405= NP_742101.2:p.Glu405Asp NP_742101.2:p.Glu405Asp
eyes absent homolog 4 isoform f NP_001287942.1:p.Glu434= NP_001287942.1:p.Glu434Asp NP_001287942.1:p.Glu434Asp
eyes absent homolog 4 isoform e NP_001287941.1:p.Glu374= NP_001287941.1:p.Glu374Asp NP_001287941.1:p.Glu374Asp
eyes absent homolog 4 isoform g NP_001357387.1:p.Glu405= NP_001357387.1:p.Glu405Asp NP_001357387.1:p.Glu405Asp
eyes absent homolog 4 isoform h NP_001357388.1:p.Glu380= NP_001357388.1:p.Glu380Asp NP_001357388.1:p.Glu380Asp
eyes absent homolog 4 isoform X3 XP_005266908.1:p.Glu434= XP_005266908.1:p.Glu434Asp XP_005266908.1:p.Glu434Asp
eyes absent homolog 4 isoform X2 XP_016865858.1:p.Glu428= XP_016865858.1:p.Glu428Asp XP_016865858.1:p.Glu428Asp
eyes absent homolog 4 isoform X1 XP_016865857.1:p.Glu434= XP_016865857.1:p.Glu434Asp XP_016865857.1:p.Glu434Asp
eyes absent homolog 4 isoform X5 XP_016865860.1:p.Glu406= XP_016865860.1:p.Glu406Asp XP_016865860.1:p.Glu406Asp
eyes absent homolog 4 isoform X16 XP_016865862.1:p.Glu374= XP_016865862.1:p.Glu374Asp XP_016865862.1:p.Glu374Asp
eyes absent homolog 4 isoform X17 XP_016865863.1:p.Glu380= XP_016865863.1:p.Glu380Asp XP_016865863.1:p.Glu380Asp
eyes absent homolog 4 isoform X7 XP_047274233.1:p.Glu434= XP_047274233.1:p.Glu434Asp XP_047274233.1:p.Glu434Asp
eyes absent homolog 4 isoform X4 XP_047274231.1:p.Glu411= XP_047274231.1:p.Glu411Asp XP_047274231.1:p.Glu411Asp
eyes absent homolog 4 isoform X10 XP_047274236.1:p.Glu400= XP_047274236.1:p.Glu400Asp XP_047274236.1:p.Glu400Asp
eyes absent homolog 4 isoform X6 XP_047274232.1:p.Glu405= XP_047274232.1:p.Glu405Asp XP_047274232.1:p.Glu405Asp
eyes absent homolog 4 isoform X15 XP_047274241.1:p.Glu380= XP_047274241.1:p.Glu380Asp XP_047274241.1:p.Glu380Asp
eyes absent homolog 4 isoform X11 XP_047274237.1:p.Glu406= XP_047274237.1:p.Glu406Asp XP_047274237.1:p.Glu406Asp
eyes absent homolog 4 isoform X9 XP_047274235.1:p.Glu411= XP_047274235.1:p.Glu411Asp XP_047274235.1:p.Glu411Asp
eyes absent homolog 4 isoform X8 XP_047274234.1:p.Glu411= XP_047274234.1:p.Glu411Asp XP_047274234.1:p.Glu411Asp
eyes absent homolog 4 isoform X14 XP_047274240.1:p.Glu400= XP_047274240.1:p.Glu400Asp XP_047274240.1:p.Glu400Asp
eyes absent homolog 4 isoform X13 XP_047274239.1:p.Glu400= XP_047274239.1:p.Glu400Asp XP_047274239.1:p.Glu400Asp
eyes absent homolog 4 isoform X12 XP_047274238.1:p.Glu405= XP_047274238.1:p.Glu405Asp XP_047274238.1:p.Glu405Asp
eyes absent homolog 4 isoform X19 XP_047274243.1:p.Glu374= XP_047274243.1:p.Glu374Asp XP_047274243.1:p.Glu374Asp
eyes absent homolog 4 isoform X18 XP_047274242.1:p.Glu380= XP_047274242.1:p.Glu380Asp XP_047274242.1:p.Glu380Asp
eyes absent homolog 4 isoform X20 XP_047274244.1:p.Glu374= XP_047274244.1:p.Glu374Asp XP_047274244.1:p.Glu374Asp
Help

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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1688504838 Apr 01, 2015 (144)
2 GNOMAD ss2736075635 Nov 08, 2017 (151)
3 ExAC NC_000006.11 - 133833861 Oct 12, 2018 (152)
4 gnomAD - Exomes NC_000006.11 - 133833861 Jul 13, 2019 (153)
5 ALFA NC_000006.12 - 133512723 Apr 26, 2021 (155)
Help

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
4762747786 NC_000006.12:133512722:G:C NC_000006.12:133512722:G:C (self)
8552486, 5227265, ss1688504838, ss2736075635 NC_000006.11:133833860:G:T NC_000006.12:133512722:G:T (self)
Help

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

No publications for rs773085937

Help

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.

Software version is: 2.0.1.post761+d5e8e07