SNP Links for Gene (Select 65260) - SNP

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Select item 14914731651.

rs1491473165 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:52691471 (GRCh38)
1:53157144 (GRCh37)
Canonical SPDI:: NC_000001.11:52691471::G
Gene:: COA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00051/6 (ALFA)
G=0.00085/14 (TOMMO)
G=0.00154/65 (GnomAD)
HGVS:: NC_000001.11:g.52691471_52691472insG, NC_000001.10:g.53157143_53157144insG

Select item 14912101772.

rs1491210177 has merged into rs541566680 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:52691482 (GRCh38)
1:53157154 (GRCh37)
Canonical SPDI:: NC_000001.11:52691470:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:52691470:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:52691470:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:52691470:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:52691470:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:52691470:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:52691470:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:52691470:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:52691470:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:52691470:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:52691470:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: COA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3636/1821 (1000Genomes)
HGVS:: NC_000001.11:g.52691482_52691487del, NC_000001.11:g.52691484_52691487del, NC_000001.11:g.52691485_52691487del, NC_000001.11:g.52691486_52691487del, NC_000001.11:g.52691487del, NC_000001.11:g.52691487dup, NC_000001.11:g.52691486_52691487dup, NC_000001.11:g.52691485_52691487dup, NC_000001.11:g.52691484_52691487dup, NC_000001.11:g.52691482_52691487dup, NC_000001.11:g.52691480_52691487dup, NC_000001.10:g.53157154_53157159del, NC_000001.10:g.53157156_53157159del, NC_000001.10:g.53157157_53157159del, NC_000001.10:g.53157158_53157159del, NC_000001.10:g.53157159del, NC_000001.10:g.53157159dup, NC_000001.10:g.53157158_53157159dup, NC_000001.10:g.53157157_53157159dup, NC_000001.10:g.53157156_53157159dup, NC_000001.10:g.53157154_53157159dup, NC_000001.10:g.53157152_53157159dup

Select item 14910304203.

rs1491030420 has merged into rs59226724 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:52694478 (GRCh38)
1:53160150 (GRCh37)
Canonical SPDI:: NC_000001.11:52694461:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:52694461:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:52694461:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:52694461:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:52694461:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:52694461:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:52694461:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:52694461:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:52694461:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:52694461:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:52694461:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: COA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000001.11:g.52694478_52694481del, NC_000001.11:g.52694479_52694481del, NC_000001.11:g.52694480_52694481del, NC_000001.11:g.52694481del, NC_000001.11:g.52694481dup, NC_000001.11:g.52694480_52694481dup, NC_000001.11:g.52694479_52694481dup, NC_000001.11:g.52694478_52694481dup, NC_000001.11:g.52694464_52694481dup, NC_000001.11:g.52694463_52694481dup, NC_000001.11:g.52694481_52694482insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.53160150_53160153del, NC_000001.10:g.53160151_53160153del, NC_000001.10:g.53160152_53160153del, NC_000001.10:g.53160153del, NC_000001.10:g.53160153dup, NC_000001.10:g.53160152_53160153dup, NC_000001.10:g.53160151_53160153dup, NC_000001.10:g.53160150_53160153dup, NC_000001.10:g.53160136_53160153dup, NC_000001.10:g.53160135_53160153dup, NC_000001.10:g.53160153_53160154insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14909650814.

rs1490965081 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:52694097 (GRCh38)
1:53159769 (GRCh37)
Canonical SPDI:: NC_000001.11:52694095:AGA:A
Gene:: COA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.52694097_52694098del, NC_000001.10:g.53159769_53159770del

Select item 14904738885.

rs1490473888 has merged into rs565539055 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:52693610 (GRCh38)
1:53159282 (GRCh37)
Canonical SPDI:: NC_000001.11:52693605:AAAAAAAAAAAAAAAAA:AAAA,NC_000001.11:52693605:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:52693605:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:52693605:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:52693605:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:52693605:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:52693605:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:52693605:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:52693605:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: COA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.0004/2 (1000Genomes)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000001.11:g.52693610_52693622del, NC_000001.11:g.52693617_52693622del, NC_000001.11:g.52693619_52693622del, NC_000001.11:g.52693620_52693622del, NC_000001.11:g.52693621_52693622del, NC_000001.11:g.52693622del, NC_000001.11:g.52693622dup, NC_000001.11:g.52693621_52693622dup, NC_000001.11:g.52693620_52693622dup, NC_000001.10:g.53159282_53159294del, NC_000001.10:g.53159289_53159294del, NC_000001.10:g.53159291_53159294del, NC_000001.10:g.53159292_53159294del, NC_000001.10:g.53159293_53159294del, NC_000001.10:g.53159294del, NC_000001.10:g.53159294dup, NC_000001.10:g.53159293_53159294dup, NC_000001.10:g.53159292_53159294dup

Select item 14903866916.

rs1490386691 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:52692809 (GRCh38)
1:53158481 (GRCh37)
Canonical SPDI:: NC_000001.11:52692808:GG:G
Gene:: COA7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52692810del, NC_000001.10:g.53158482del, NM_023077.3:c.165del, NM_023077.2:c.165del, NP_075565.2:p.Lys56fs

Select item 14902228297.

rs1490222829 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:52687950 (GRCh38)
1:53153622 (GRCh37)
Canonical SPDI:: NC_000001.11:52687949:T:C
Gene:: COA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.52687950T>C, NC_000001.10:g.53153622T>C, NM_023077.3:c.466A>G, NM_023077.2:c.466A>G, NP_075565.2:p.Met156Val

Select item 14899917008.

rs1489991700 has merged into rs1184003227 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAT>-,AAATAAAT [Show Flanks]
Chromosome:: 1:52693962 (GRCh38)
1:53159634 (GRCh37)
Canonical SPDI:: NC_000001.11:52693950:AATAAATAAATAAAT:AATAAATAAAT,NC_000001.11:52693950:AATAAATAAATAAAT:AATAAATAAATAAATAAAT
Gene:: COA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAAATAAATAAATAAAT=0./0 (ALFA)
AATA=0.000125/33 (TOPMED)
AATA=0.000354/6 (TOMMO)
AATA=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.52693954AAAT[2], NC_000001.11:g.52693954AAAT[4], NC_000001.10:g.53159626AAAT[2], NC_000001.10:g.53159626AAAT[4]

Select item 14896341129.

rs1489634112 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA [Show Flanks]
Chromosome:: 1:52690040 (GRCh38)
1:53155713 (GRCh37)
Canonical SPDI:: NC_000001.11:52690040::GA
Gene:: COA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GA=0./0 (ALFA)
HGVS:: NC_000001.11:g.52690040_52690041insGA, NC_000001.10:g.53155712_53155713insGA

Select item 148910540610.

rs1489105406 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATTTT [Show Flanks]
Chromosome:: 1:52698571 (GRCh38)
1:53164244 (GRCh37)
Canonical SPDI:: NC_000001.11:52698571:TGATTTT:TGATTTTGATTTT
Gene:: COA7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TGATTTTGATTTT=0./0 (ALFA)
TGATTT=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.52698573_52698578dup, NC_000001.10:g.53164245_53164250dup

Select item 148910312211.

rs1489103122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52688336 (GRCh38)
1:53154008 (GRCh37)
Canonical SPDI:: NC_000001.11:52688335:G:A
Gene:: COA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.52688336G>A, NC_000001.10:g.53154008G>A

Select item 148905110412.

rs1489051104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:52686946 (GRCh38)
1:53152618 (GRCh37)
Canonical SPDI:: NC_000001.11:52686945:G:C
Gene:: COA7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.52686946G>C, NC_000001.10:g.53152618G>C, NM_023077.3:c.*774C>G, NM_023077.2:c.*774C>G

Select item 148886941613.

rs1488869416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:52695008 (GRCh38)
1:53160680 (GRCh37)
Canonical SPDI:: NC_000001.11:52695007:T:C,NC_000001.11:52695007:T:G
Gene:: COA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000684/2 (KOREAN)
HGVS:: NC_000001.11:g.52695008T>C, NC_000001.11:g.52695008T>G, NC_000001.10:g.53160680T>C, NC_000001.10:g.53160680T>G

Select item 148859338014.

rs1488593380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:52695531 (GRCh38)
1:53161203 (GRCh37)
Canonical SPDI:: NC_000001.11:52695530:C:T
Gene:: COA7 (Varview)
Functional Consequence:: intron_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_000001.11:g.52695531C>T, NC_000001.10:g.53161203C>T

Select item 148845539715.

rs1488455397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52698318 (GRCh38)
1:53163990 (GRCh37)
Canonical SPDI:: NC_000001.11:52698317:G:A
Gene:: COA7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000167/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52698318G>A, NC_000001.10:g.53163990G>A, NM_023077.3:c.9C>T, NM_023077.2:c.9C>T

Select item 148822851716.

rs1488228517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:52696054 (GRCh38)
1:53161726 (GRCh37)
Canonical SPDI:: NC_000001.11:52696053:A:C
Gene:: COA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.52696054A>C, NC_000001.10:g.53161726A>C

Select item 148797370417.

rs1487973704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52687104 (GRCh38)
1:53152776 (GRCh37)
Canonical SPDI:: NC_000001.11:52687103:G:A
Gene:: COA7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000035/1 (TOMMO)
A=0.000038/10 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.52687104G>A, NC_000001.10:g.53152776G>A, NM_023077.3:c.*616C>T, NM_023077.2:c.*616C>T

Select item 148754877518.

rs1487548775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52696260 (GRCh38)
1:53161932 (GRCh37)
Canonical SPDI:: NC_000001.11:52696259:G:A
Gene:: COA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.52696260G>A, NC_000001.10:g.53161932G>A

Select item 148753803519.

rs1487538035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:52698599 (GRCh38)
1:53164271 (GRCh37)
Canonical SPDI:: NC_000001.11:52698598:A:G
Gene:: COA7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.52698599A>G, NC_000001.10:g.53164271A>G

Select item 148721926220.

rs1487219262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52696468 (GRCh38)
1:53162140 (GRCh37)
Canonical SPDI:: NC_000001.11:52696467:G:A
Gene:: COA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.52696468G>A, NC_000001.10:g.53162140G>A

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