| geneid | 117155 |
|---|---|
| ensemblid | ENSG00000166762.19 |
| hgncid | 18810 |
| symbol | CATSPER2 |
| name | cation channel sperm associated 2 |
| refseq_nuc | NM_172095.4 |
| refseq_prot | NP_742093.1 |
| ensembl_nuc | ENST00000396879.8 |
| ensembl_prot | ENSP00000380088.3 |
| mane_status | MANE Select |
| chr | chr15 |
| start | 43628503 |
| end | 43648844 |
| strand | - |
| ver | v1.2 |
| region | chr15:43628503-43648844 |
| region5000 | chr15:43623503-43653844 |
| regionname0 | CATSPER2_chr15_43628503_43648844 |
| regionname5000 | CATSPER2_chr15_43623503_43653844 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:43632894
|
A | T | 0.0179 | missense_variant | MODERATE | HG02572.hp1 HG02572.hp2 HG02895.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0008a0003c0003t0011a0003c0003t0021 | a0003c0003t0008g0022a0003c0003t0008g0129a0003c0003t0011g0049others(2): Show | 7 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 11/13 | c.1219T>A | p.Ser407Thr | 1437/4009 | 1219/1593 | 407/530 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:43629194
|
G | A | 0.3393 | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(130): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(10): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(86): Show | 133 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 13/13 | c.*1507C>T | 1507 | |||||
|
chr15:43629805
|
C | T | 0.4924 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(190): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(125): Show | 193 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 13/13 | c.*896G>A | 896 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:43631527
|
C | T | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02895.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0018a0003c0003t0008a0003c0003t0011others(1): Show | a0001c0001t0018g0128a0003c0003t0008g0022a0003c0003t0008g0129others(3): Show | 8 | 392 | 0.0204 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 12/12 | c.1561+672G>A | ||||||
|
chr15:43631757
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(143): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(12): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(99): Show | 146 | 392 | 0.3725 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 12/12 | c.1561+442T>G | ||||||
|
chr15:43631976
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(150): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(103): Show | 153 | 392 | 0.3903 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 12/12 | c.1561+223G>C | ||||||
|
chr15:43632392
|
C | T | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02895.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0008a0003c0003t0011a0003c0003t0021 | a0003c0003t0008g0022a0003c0003t0008g0129a0003c0003t0011g0049others(2): Show | 7 | 392 | 0.0179 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 11/12 | c.1397-29G>A | ||||||
|
chr15:43632410
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01070.hp2 others(24): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0014a0001c0001t0018others(3): Show | a0001c0001t0003g0034a0001c0001t0003g0035a0001c0001t0003g0036others(19): Show | 27 | 392 | 0.0689 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 11/12 | c.1397-47A>G | ||||||
|
chr15:43632936
|
T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1179-2A>T | ||||||
|
chr15:43632937
|
T | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1179-3A>C | ||||||
|
chr15:43632942
|
A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1179-8T>C | ||||||
|
chr15:43632949
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1179-15A>C | ||||||
|
chr15:43633835
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(155): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(106): Show | 158 | 392 | 0.4031 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1179-901G>A | ||||||
|
chr15:43636872
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(150): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(103): Show | 153 | 392 | 0.3903 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | c.843-653G>C | ||||||
|
chr15:43638286
|
C | CT | intron_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG02071.hp1 others(36): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0059others(18): Show | 39 | 392 | 0.0995 | 1 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | c.842+617dupA | ||||||
|
chr15:43638408
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(235): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0021others(149): Show | 238 | 392 | 0.6071 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | c.842+496T>G | ||||||
|
chr15:43638491
|
G | A | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02895.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0018a0003c0003t0008a0003c0003t0011others(1): Show | a0001c0001t0018g0128a0003c0003t0008g0022a0003c0003t0008g0129others(3): Show | 8 | 392 | 0.0204 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | c.842+413C>T | ||||||
|
chr15:43639406
|
G | A | intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0129 | 1 | 392 | 0.0026 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 6/12 | c.717+237C>T | ||||||
|
chr15:43639973
|
A | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(74): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0003a0001c0001t0018a0002c0002t0002others(8): Show | a0001c0001t0003g0116a0001c0001t0018g0128a0002c0002t0002g0004others(46): Show | 77 | 392 | 0.1964 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 5/12 | c.562-175T>G | ||||||
|
chr15:43641259
|
G | A | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02895.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0018a0003c0003t0008a0003c0003t0011others(1): Show | a0001c0001t0018g0128a0003c0003t0008g0022a0003c0003t0008g0129others(3): Show | 8 | 392 | 0.0204 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.389-763C>T | ||||||
|
chr15:43642102
|
C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(147): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0063a0001c0001t0002g0040a0001c0001t0002g0041others(101): Show | 150 | 392 | 0.3827 | 1 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.389-1607dupA | ||||||
|
chr15:43643905
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(150): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(103): Show | 153 | 392 | 0.3903 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.388+3145G>A | ||||||
|
chr15:43646409
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(143): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(12): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(99): Show | 146 | 392 | 0.3725 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.388+641T>C | ||||||
|
chr15:43646484
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(150): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(103): Show | 153 | 392 | 0.3903 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.388+566A>G |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | a0003 | 530 | 7 | 7 | 0 | 0 | 0 | 0 | subcellular location copy fasta | chr15 | 43623503 | 43653844 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | c0003 | 1593 | 7 | 7 | 0 | 0 | 0 | 0 | copy fasta | chr15 | 43623503 | 43653844 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | t0008 | 2417 | 4 | 4 | 0 | 0 | 0 | 0 | copy fasta | chr15 | 43623503 | 43653844 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | g0129 | 1 | 1 | 0 | 0 | 0 | 0 | chr15 | 43623503 | 43653844 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | a0003c0003 | 7 | 7 | 0 | 0 | 0 | 0 | 1593 | copy fasta | chr15 | 43623503 | 43653844 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | a0003c0003t0008 | 4 | 4 | 0 | 0 | 0 | 0 | 4009 | copy fasta | chr15 | 43623503 | 43653844 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | a0003c0003t0008g0129 | 1 | 1 | 0 | 0 | 0 | 0 | chr15 | 43623503 | 43653844 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 43647917 | - | 2 | -0.4645 | -0.4645 | -0.4645 | 0.0000 | acceptor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43648063 | - | 2 | 0.1113 | 0.1113 | 0.1113 | 0.0000 | donor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43647294 | - | 3 | -0.1098 | -0.1098 | -0.1098 | 0.0000 | acceptor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43647467 | - | 3 | 0.1947 | 0.1947 | 0.1947 | 0.0000 | donor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43647050 | - | 4 | -0.3445 | -0.3445 | -0.3445 | 0.0000 | acceptor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43640324 | - | 5 | -0.7182 | -0.7181 | -0.7182 | 0.0000 | acceptor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43640496 | - | 5 | 0.6820 | 0.6819 | 0.6820 | 0.0000 | donor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43638904 | - | 7 | -0.7232 | -0.7232 | -0.7232 | 0.0000 | acceptor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43639028 | - | 7 | 0.5033 | 0.5033 | 0.5033 | 0.0000 | donor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43636041 | - | 8 | -0.9903 | -0.9903 | -0.9903 | 0.0000 | acceptor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43636219 | - | 8 | 0.9858 | 0.9858 | 0.9858 | 0.0000 | donor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43635727 | - | 9 | -0.4542 | -0.4542 | -0.4542 | 0.0000 | acceptor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43635826 | - | 9 | 0.1702 | 0.1701 | 0.1702 | 0.0000 | donor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43635360 | - | 10 | -0.5235 | -0.5235 | -0.5235 | 0.0000 | acceptor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43635416 | - | 10 | 0.6378 | 0.6378 | 0.6378 | 0.0000 | donor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43632717 | - | 11 | -0.4759 | -0.4759 | -0.4759 | 0.0000 | acceptor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43632934 | - | 11 | 0.0000 | 0.0000 | 0.0000 | 0.0000 | donor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43632199 | - | 12 | -0.6354 | -0.6353 | -0.6354 | 0.0000 | acceptor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43632363 | - | 12 | 0.4289 | 0.4289 | 0.4289 | 0.0000 | donor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43630732 | - | 13 | 0.1168 | 0.1168 | 0.1168 | 0.0000 | donor | a0003c0003t0008g0129 | NA20300.hp1 | NA20300.hp1 | CATSPER2 | chr15 | 43623503 | 43653844 |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:43638408
|
c.842+496T>G | Aerodigestive squamous cell cancer (pleiotropy)others(11): Show | a0001a0002a0003a0004a0006others(2): Show | a0001c0001a0001c0005a0001c0011a0002c0002a0002c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0057a0001c0001t0001g0059others(147): Show | HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 others(233): Show |
Genome-wide association meta-analysis identifies p others(61): Show |
7,426 European ancestry lung squamous cell carcino others(246): Show |
NR | CATSPER2 | rs35028925-C | - | MODIFIER | chr15 | A | C |
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chr15:43638408
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c.842+496T>G | Squamous cell lung carcinoma1.0992004 | a0001a0002a0003a0004a0006others(2): Show | a0001c0001a0001c0005a0001c0011a0002c0002a0002c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0057a0001c0001t0001g0059others(147): Show | HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 others(233): Show |
Large-scale association analysis identifies new lu others(103): Show |
7,426 European ancestry cases, 55,627 European anc others(15): Show |
CATSPER2 | CATSPER2 | rs35028925-A | - | MODIFIER | chr15 | A | C |
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chr15:43638408
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c.842+496T>G | Lung cancer1.0604849 | a0001a0002a0003a0004a0006others(2): Show | a0001c0001a0001c0005a0001c0011a0002c0002a0002c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0057a0001c0001t0001g0059others(147): Show | HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 others(233): Show |
Large-scale association analysis identifies new lu others(103): Show |
29,266 European ancestry cases, 56,450 European an others(16): Show |
CATSPER2 | CATSPER2 | rs35028925-A | - | MODIFIER | chr15 | A | C |
