SNP Links for Gene (Select 84701) - SNP

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Select item 14914664241.

rs1491466424 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:31640995 (GRCh38)
20:30228798 (GRCh37)
Canonical SPDI:: NC_000020.11:31640994:AT:
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.31640995_31640996del, NC_000020.10:g.30228798_30228799del, NG_012180.1:g.8108_8109del

Select item 14914285402.

rs1491428540 has merged into rs564945266 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:31645442 (GRCh38)
20:30233245 (GRCh37)
Canonical SPDI:: NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: COX4I2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.45/18 (GENOME_DK)
HGVS:: NC_000020.11:g.31645442_31645447del, NC_000020.11:g.31645444_31645447del, NC_000020.11:g.31645445_31645447del, NC_000020.11:g.31645446_31645447del, NC_000020.11:g.31645447del, NC_000020.11:g.31645447dup, NC_000020.11:g.31645446_31645447dup, NC_000020.11:g.31645445_31645447dup, NC_000020.11:g.31645444_31645447dup, NC_000020.11:g.31645443_31645447dup, NC_000020.11:g.31645442_31645447dup, NC_000020.11:g.31645438_31645447dup, NC_000020.10:g.30233245_30233250del, NC_000020.10:g.30233247_30233250del, NC_000020.10:g.30233248_30233250del, NC_000020.10:g.30233249_30233250del, NC_000020.10:g.30233250del, NC_000020.10:g.30233250dup, NC_000020.10:g.30233249_30233250dup, NC_000020.10:g.30233248_30233250dup, NC_000020.10:g.30233247_30233250dup, NC_000020.10:g.30233246_30233250dup, NC_000020.10:g.30233245_30233250dup, NC_000020.10:g.30233241_30233250dup, NG_012180.1:g.12555_12560del, NG_012180.1:g.12557_12560del, NG_012180.1:g.12558_12560del, NG_012180.1:g.12559_12560del, NG_012180.1:g.12560del, NG_012180.1:g.12560dup, NG_012180.1:g.12559_12560dup, NG_012180.1:g.12558_12560dup, NG_012180.1:g.12557_12560dup, NG_012180.1:g.12556_12560dup, NG_012180.1:g.12555_12560dup, NG_012180.1:g.12551_12560dup

Select item 14912406013.

rs1491240601 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,CACACATA,CACATA,CATA [Show Flanks]
Chromosome:: 20:31640994 (GRCh38)
20:30228798 (GRCh37)
Canonical SPDI:: NC_000020.11:31640994:A:AA,NC_000020.11:31640994:A:ACACACATA,NC_000020.11:31640994:A:ACACATA,NC_000020.11:31640994:A:ACATA
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACATA=0./0 (ALFA)
ACACAT=0.00007/1 (TOMMO)
HGVS:: NC_000020.11:g.31640995dup, NC_000020.11:g.31640995AC[3]ATA[1], NC_000020.11:g.31640995AC[2]ATA[1], NC_000020.11:g.31640995_31640996insCATA, NC_000020.10:g.30228798dup, NC_000020.10:g.30228798AC[3]ATA[1], NC_000020.10:g.30228798AC[2]ATA[1], NC_000020.10:g.30228798_30228799insCATA, NG_012180.1:g.8108dup, NG_012180.1:g.8108AC[3]ATA[1], NG_012180.1:g.8108AC[2]ATA[1], NG_012180.1:g.8108_8109insCATA

Select item 14909138284.

rs1490913828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:31643473 (GRCh38)
20:30231276 (GRCh37)
Canonical SPDI:: NC_000020.11:31643472:T:C
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.31643473T>C, NC_000020.10:g.30231276T>C, NG_012180.1:g.10586T>C, NM_032609.3:c.317T>C, NM_032609.2:c.317T>C, XM_005260579.5:c.332T>C, XM_005260579.4:c.332T>C, XM_005260579.3:c.332T>C, XM_005260579.2:c.332T>C, XM_005260579.1:c.332T>C, NP_115998.2:p.Met106Thr, XP_005260636.1:p.Met111Thr

Select item 14906387635.

rs1490638763 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAGCCAGCCTCTCATTTG>- [Show Flanks]
Chromosome:: 20:31642970 (GRCh38)
20:30230773 (GRCh37)
Canonical SPDI:: NC_000020.11:31642957:GCCTCTCATTTGAGAGAGCCAGCCTCTCATTTG:GCCTCTCATTTG
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCTCTCATTTG=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000029/4 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000020.11:g.31642970_31642990del, NC_000020.10:g.30230773_30230793del, NG_012180.1:g.10083_10103del

Select item 14898855156.

rs1489885515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31636348 (GRCh38)
20:30224151 (GRCh37)
Canonical SPDI:: NC_000020.11:31636347:C:T
Gene:: COX4I2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.31636348C>T, NC_000020.10:g.30224151C>T, NG_012180.1:g.3461C>T

Select item 14898783457.

rs1489878345 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14898206238.

rs1489820623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:31642464 (GRCh38)
20:30230267 (GRCh37)
Canonical SPDI:: NC_000020.11:31642463:G:T
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000213/6 (TOMMO)
HGVS:: NC_000020.11:g.31642464G>T, NC_000020.10:g.30230267G>T, NG_012180.1:g.9577G>T

Select item 14895627339.

rs1489562733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:31644735 (GRCh38)
20:30232538 (GRCh37)
Canonical SPDI:: NC_000020.11:31644734:A:G
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.31644735A>G, NC_000020.10:g.30232538A>G, NG_012180.1:g.11848A>G

Select item 148832344910.

rs1488323449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:31645498 (GRCh38)
20:30233301 (GRCh37)
Canonical SPDI:: NC_000020.11:31645497:T:C
Gene:: COX4I2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.00003/8 (TOPMED)
C=0.000043/6 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.31645498T>C, NC_000020.10:g.30233301T>C, NG_012180.1:g.12611T>C

Select item 148828116611.

rs1488281166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:31639287 (GRCh38)
20:30227090 (GRCh37)
Canonical SPDI:: NC_000020.11:31639286:A:G
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.31639287A>G, NC_000020.10:g.30227090A>G, NG_012180.1:g.6400A>G

Select item 148760072412.

rs1487600724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:31640262 (GRCh38)
20:30228065 (GRCh37)
Canonical SPDI:: NC_000020.11:31640261:C:G
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.31640262C>G, NC_000020.10:g.30228065C>G, NG_012180.1:g.7375C>G

Select item 148734328313.

rs1487343283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:31642601 (GRCh38)
20:30230404 (GRCh37)
Canonical SPDI:: NC_000020.11:31642600:G:A
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000020.11:g.31642601G>A, NC_000020.10:g.30230404G>A, NG_012180.1:g.9714G>A

Select item 148716565514.

rs1487165655 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:31643185 (GRCh38)
20:30230988 (GRCh37)
Canonical SPDI:: NC_000020.11:31643184:T:G
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.31643185T>G, NC_000020.10:g.30230988T>G, NG_012180.1:g.10298T>G

Select item 148711592315.

rs1487115923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:31640791 (GRCh38)
20:30228594 (GRCh37)
Canonical SPDI:: NC_000020.11:31640790:T:C
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.31640791T>C, NC_000020.10:g.30228594T>C, NG_012180.1:g.7904T>C

Select item 148591285716.

rs1485912857 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCT>- [Show Flanks]
Chromosome:: 20:31640951 (GRCh38)
20:30228754 (GRCh37)
Canonical SPDI:: NC_000020.11:31640947:TCTTTCT:TCT
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31640951_31640954del, NC_000020.10:g.30228754_30228757del, NG_012180.1:g.8064_8067del

Select item 148563059317.

rs1485630593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:31642574 (GRCh38)
20:30230377 (GRCh37)
Canonical SPDI:: NC_000020.11:31642573:G:A
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.31642574G>A, NC_000020.10:g.30230377G>A, NG_012180.1:g.9687G>A

Select item 148549933418.

rs1485499334 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 20:31645448 (GRCh38)
20:30233251 (GRCh37)
Canonical SPDI:: NC_000020.11:31645447:G:
Gene:: COX4I2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.31645448del, NC_000020.10:g.30233251del, NG_012180.1:g.12561del

Select item 148520068319.

rs1485200683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:31645362 (GRCh38)
20:30233165 (GRCh37)
Canonical SPDI:: NC_000020.11:31645361:A:G
Gene:: COX4I2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.31645362A>G, NC_000020.10:g.30233165A>G, NG_012180.1:g.12475A>G

Select item 148507978920.

rs1485079789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31638038 (GRCh38)
20:30225841 (GRCh37)
Canonical SPDI:: NC_000020.11:31638037:C:T
Gene:: COX4I2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.31638038C>T, NC_000020.10:g.30225841C>T, NG_012180.1:g.5151C>T

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