SNP Links for Gene (Select 9377) - SNP

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Select item 14914162241.

rs1491416224 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:74931016 (GRCh38)
15:75223357 (GRCh37)
Canonical SPDI:: NC_000015.10:74931015:CA:
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000015.10:g.74931016_74931017del, NC_000015.9:g.75223357_75223358del

Select item 14913528142.

rs1491352814 has merged into rs61417867 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:74931029 (GRCh38)
15:75223370 (GRCh37)
Canonical SPDI:: NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:74931016:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.74931029_74931046del, NC_000015.10:g.74931030_74931046del, NC_000015.10:g.74931031_74931046del, NC_000015.10:g.74931032_74931046del, NC_000015.10:g.74931033_74931046del, NC_000015.10:g.74931034_74931046del, NC_000015.10:g.74931035_74931046del, NC_000015.10:g.74931036_74931046del, NC_000015.10:g.74931037_74931046del, NC_000015.10:g.74931038_74931046del, NC_000015.10:g.74931039_74931046del, NC_000015.10:g.74931040_74931046del, NC_000015.10:g.74931041_74931046del, NC_000015.10:g.74931042_74931046del, NC_000015.10:g.74931043_74931046del, NC_000015.10:g.74931044_74931046del, NC_000015.10:g.74931045_74931046del, NC_000015.10:g.74931046del, NC_000015.10:g.74931046dup, NC_000015.10:g.74931045_74931046dup, NC_000015.10:g.74931044_74931046dup, NC_000015.10:g.74931043_74931046dup, NC_000015.10:g.74931042_74931046dup, NC_000015.10:g.74931041_74931046dup, NC_000015.10:g.74931040_74931046dup, NC_000015.10:g.74931039_74931046dup, NC_000015.10:g.74931021_74931046dup, NC_000015.9:g.75223370_75223387del, NC_000015.9:g.75223371_75223387del, NC_000015.9:g.75223372_75223387del, NC_000015.9:g.75223373_75223387del, NC_000015.9:g.75223374_75223387del, NC_000015.9:g.75223375_75223387del, NC_000015.9:g.75223376_75223387del, NC_000015.9:g.75223377_75223387del, NC_000015.9:g.75223378_75223387del, NC_000015.9:g.75223379_75223387del, NC_000015.9:g.75223380_75223387del, NC_000015.9:g.75223381_75223387del, NC_000015.9:g.75223382_75223387del, NC_000015.9:g.75223383_75223387del, NC_000015.9:g.75223384_75223387del, NC_000015.9:g.75223385_75223387del, NC_000015.9:g.75223386_75223387del, NC_000015.9:g.75223387del, NC_000015.9:g.75223387dup, NC_000015.9:g.75223386_75223387dup, NC_000015.9:g.75223385_75223387dup, NC_000015.9:g.75223384_75223387dup, NC_000015.9:g.75223383_75223387dup, NC_000015.9:g.75223382_75223387dup, NC_000015.9:g.75223381_75223387dup, NC_000015.9:g.75223380_75223387dup, NC_000015.9:g.75223362_75223387dup

Select item 14912723313.

rs1491272331 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:74926510 (GRCh38)
15:75218852 (GRCh37)
Canonical SPDI:: NC_000015.10:74926510::G
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000129/18 (GnomAD)
HGVS:: NC_000015.10:g.74926510_74926511insG, NC_000015.9:g.75218851_75218852insG

Select item 14909534504.

rs1490953450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:74922568 (GRCh38)
15:75214909 (GRCh37)
Canonical SPDI:: NC_000015.10:74922567:A:G
Gene:: COX5A (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_000015.10:g.74922568A>G, NC_000015.9:g.75214909A>G

Select item 14908234225.

rs1490823422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:74937605 (GRCh38)
15:75229946 (GRCh37)
Canonical SPDI:: NC_000015.10:74937604:G:C
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000053/14 (TOPMED)
HGVS:: NC_000015.10:g.74937605G>C, NC_000015.9:g.75229946G>C

Select item 14902302856.

rs1490230285 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74924023 (GRCh38)
15:75216364 (GRCh37)
Canonical SPDI:: NC_000015.10:74924022:T:C
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.74924023T>C, NC_000015.9:g.75216364T>C

Select item 14901232267.

rs1490123226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74921608 (GRCh38)
15:75213949 (GRCh37)
Canonical SPDI:: NC_000015.10:74921607:T:C
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000015.10:g.74921608T>C, NC_000015.9:g.75213949T>C

Select item 14901032158.

rs1490103215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:74936022 (GRCh38)
15:75228363 (GRCh37)
Canonical SPDI:: NC_000015.10:74936021:G:C
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.74936022G>C, NC_000015.9:g.75228363G>C

Select item 14900858259.

rs1490085825 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:74922958 (GRCh38)
15:75215299 (GRCh37)
Canonical SPDI:: NC_000015.10:74922957:A:G
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.74922958A>G, NC_000015.9:g.75215299A>G

Select item 148991202810.

rs1489912028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74934950 (GRCh38)
15:75227291 (GRCh37)
Canonical SPDI:: NC_000015.10:74934949:T:C
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.74934950T>C, NC_000015.9:g.75227291T>C

Select item 148977198011.

rs1489771980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:74920489 (GRCh38)
15:75212830 (GRCh37)
Canonical SPDI:: NC_000015.10:74920488:A:C
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000009/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.74920489A>C, NC_000015.9:g.75212830A>C

Select item 148973273412.

rs1489732734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:74920808 (GRCh38)
15:75213149 (GRCh37)
Canonical SPDI:: NC_000015.10:74920807:T:G
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.74920808T>G, NC_000015.9:g.75213149T>G

Select item 148966133913.

rs1489661339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:74921544 (GRCh38)
15:75213885 (GRCh37)
Canonical SPDI:: NC_000015.10:74921543:A:C
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.74921544A>C, NC_000015.9:g.75213885A>C

Select item 148964644014.

rs1489646440 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:74928349 (GRCh38)
15:75220691 (GRCh37)
Canonical SPDI:: NC_000015.10:74928349:AAA:AAAA
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.74928352dup, NC_000015.9:g.75220693dup

Select item 148954724215.

rs1489547242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:74938997 (GRCh38)
15:75231338 (GRCh37)
Canonical SPDI:: NC_000015.10:74938996:C:G
Gene:: COX5A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.74938997C>G, NC_000015.9:g.75231338C>G

Select item 148952062716.

rs1489520627 has merged into rs1264550838 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 15:74930729 (GRCh38)
15:75223070 (GRCh37)
Canonical SPDI:: NC_000015.10:74930717:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:74930717:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:74930717:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:74930717:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.00036/6 (TOMMO)
HGVS:: NC_000015.10:g.74930729_74930730del, NC_000015.10:g.74930730del, NC_000015.10:g.74930730dup, NC_000015.10:g.74930729_74930730dup, NC_000015.9:g.75223070_75223071del, NC_000015.9:g.75223071del, NC_000015.9:g.75223071dup, NC_000015.9:g.75223070_75223071dup

Select item 148940317017.

rs1489403170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74925412 (GRCh38)
15:75217753 (GRCh37)
Canonical SPDI:: NC_000015.10:74925411:G:A
Gene:: COX5A (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_000015.10:g.74925412G>A, NC_000015.9:g.75217753G>A

Select item 148928299118.

rs1489282991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:74928314 (GRCh38)
15:75220655 (GRCh37)
Canonical SPDI:: NC_000015.10:74928313:C:G
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.74928314C>G, NC_000015.9:g.75220655C>G

Select item 148886012319.

rs1488860123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74923403 (GRCh38)
15:75215744 (GRCh37)
Canonical SPDI:: NC_000015.10:74923402:G:A
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000015.10:g.74923403G>A, NC_000015.9:g.75215744G>A

Select item 148877130420.

rs1488771304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:74925945 (GRCh38)
15:75218286 (GRCh37)
Canonical SPDI:: NC_000015.10:74925944:T:A,NC_000015.10:74925944:T:C
Gene:: COX5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00033/5 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000022/3 (GnomAD)
A=0.000312/2 (1000Genomes)
A=0.000893/4 (Estonian)
A=0.00092/15 (TOMMO)
A=0.006169/18 (KOREAN)
HGVS:: NC_000015.10:g.74925945T>A, NC_000015.10:g.74925945T>C, NC_000015.9:g.75218286T>A, NC_000015.9:g.75218286T>C

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