SNP Links for Gene (Select 100913187) - SNP

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Select item 14915582391.

rs1491558239 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 22:38958767 (GRCh38)
22:39354772 (GRCh37)
Canonical SPDI:: NC_000022.11:38958765:TTT:T,NC_000022.11:38958765:TTT:TTTTT
Gene:: APOBEC3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00036/13 (GnomAD)
-=0.04748/183 (ALSPAC)
-=0.05987/222 (TWINSUK)
HGVS:: NC_000022.11:g.38958767_38958768del, NC_000022.11:g.38958767_38958768dup, NC_000022.10:g.39354772_39354773del, NC_000022.10:g.39354772_39354773dup, NW_003315972.2:g.74475_74476del, NW_003315972.2:g.74475_74476dup, NW_003315972.1:g.74475_74476del, NW_003315972.1:g.74475_74476dup

Select item 14914665852.

rs1491466585 has merged into rs1442098699 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT [Show Flanks]
Chromosome:: 22:38958560 (GRCh38)
22:39354565 (GRCh37)
Canonical SPDI:: NC_000022.11:38958557:CTCTCT:CT,NC_000022.11:38958557:CTCTCT:CTCT
Gene:: APOBEC3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCT=0.004936/80 (ALFA)
-=0.00027/1 (TWINSUK)
-=0.000519/2 (ALSPAC)
-=0.003333/2 (NorthernSweden)
-=0.005863/1552 (TOPMED)
HGVS:: NC_000022.11:g.38958558CT[1], NC_000022.11:g.38958558CT[2], NC_000022.10:g.39354563CT[1], NC_000022.10:g.39354563CT[2], NW_003315972.2:g.74266CT[1], NW_003315972.2:g.74266CT[2], NW_003315972.1:g.74266CT[1], NW_003315972.1:g.74266CT[2]

Select item 14910656863.

rs1491065686 has merged into rs372198297 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:38958328 (GRCh38)
22:39354333 (GRCh37)
Canonical SPDI:: NC_000022.11:38958326:TTT:T
Gene:: APOBEC3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.38958328_38958329del, NC_000022.10:g.39354333_39354334del, NW_003315972.2:g.74036_74037del, NW_003315972.1:g.74036_74037del

Select item 14910569724.

rs1491056972 has merged into rs774048758 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT [Show Flanks]
Chromosome:: 22:38958769 (GRCh38)
22:39354774 (GRCh37)
Canonical SPDI:: NC_000022.11:38958767:TCTCT:T,NC_000022.11:38958767:TCTCT:TCT
Gene:: APOBEC3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.33679/1298 (ALSPAC)
-=0.33927/1258 (TWINSUK)
HGVS:: NC_000022.11:g.38958769_38958772del, NC_000022.11:g.38958769CT[1], NC_000022.10:g.39354774_39354777del, NC_000022.10:g.39354774CT[1], NW_003315972.2:g.74479_74481dup, NW_003315972.2:g.74477del, NW_003315972.2:g.74478dup, NW_003315972.1:g.74479_74481dup, NW_003315972.1:g.74477del, NW_003315972.1:g.74478dup

Select item 14910110695.

rs1491011069 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:38956943 (GRCh38)
22:39352948 (GRCh37)
Canonical SPDI:: NC_000022.11:38956942:AG:
Gene:: APOBEC3A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000042/11 (TOPMED)
HGVS:: NC_000022.11:g.38956943_38956944del, NC_000022.10:g.39352948_39352949del, NW_003315972.2:g.72651_72652del, NW_003315972.1:g.72651_72652del

Select item 14906275626.

rs1490627562 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 22:38960510 (GRCh38)
22:39356515 (GRCh37)
Canonical SPDI:: NC_000022.11:38960509:GC:
Gene:: APOBEC3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.38960510_38960511del, NC_000022.10:g.39356515_39356516del, NW_003315972.2:g.76214_76215del, NW_003315972.1:g.76214_76215del

Select item 14903662087.

rs1490366208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:38960007 (GRCh38)
22:39356012 (GRCh37)
Canonical SPDI:: NC_000022.11:38960006:G:T
Gene:: APOBEC3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.38960007G>T, NC_000022.10:g.39356012G>T, NW_003315972.2:g.75711G>T, NW_003315972.1:g.75711G>T

Select item 14903170098.

rs1490317009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:38958676 (GRCh38)
22:39354681 (GRCh37)
Canonical SPDI:: NC_000022.11:38958675:T:C
Gene:: APOBEC3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.38958676T>C, NC_000022.10:g.39354681T>C, NW_003315972.2:g.74384T>C, NW_003315972.1:g.74384T>C

Select item 14895475799.

rs1489547579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:38958808 (GRCh38)
22:39354813 (GRCh37)
Canonical SPDI:: NC_000022.11:38958807:T:C
Gene:: APOBEC3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00011/2 (TOMMO)
HGVS:: NC_000022.11:g.38958808T>C, NC_000022.10:g.39354813T>C, NW_003315972.2:g.74512T>C, NW_003315972.1:g.74512T>C

Select item 148952953410.

rs1489529534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:38959982 (GRCh38)
22:39355987 (GRCh37)
Canonical SPDI:: NC_000022.11:38959981:G:A,NC_000022.11:38959981:G:T
Gene:: APOBEC3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.38959982G>A, NC_000022.11:g.38959982G>T, NC_000022.10:g.39355987G>A, NC_000022.10:g.39355987G>T, NW_003315972.2:g.75686G>A, NW_003315972.2:g.75686G>T, NW_003315972.1:g.75686G>A, NW_003315972.1:g.75686G>T

Select item 148927330011.

rs1489273300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:38957024 (GRCh38)
22:39353029 (GRCh37)
Canonical SPDI:: NC_000022.11:38957023:C:T
Gene:: APOBEC3A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.38957024C>T, NC_000022.10:g.39353029C>T, NW_003315972.2:g.72732C>T, NW_003315972.1:g.72732C>T

Select item 148897900912.

rs1488979009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:38961032 (GRCh38)
22:39357037 (GRCh37)
Canonical SPDI:: NC_000022.11:38961031:T:C
Gene:: APOBEC3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.38961032T>C, NC_000022.10:g.39357037T>C, NW_003315972.2:g.76736T>C, NW_003315972.1:g.76736T>C

Select item 148886150213.

rs1488861502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:38956838 (GRCh38)
22:39352843 (GRCh37)
Canonical SPDI:: NC_000022.11:38956837:C:A,NC_000022.11:38956837:C:T
Gene:: APOBEC3A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00005/7 (GnomAD)
HGVS:: NC_000022.11:g.38956838C>A, NC_000022.11:g.38956838C>T, NC_000022.10:g.39352843C>A, NC_000022.10:g.39352843C>T, NW_003315972.2:g.72546C>A, NW_003315972.2:g.72546C>T, NW_003315972.1:g.72546C>A, NW_003315972.1:g.72546C>T

Select item 148881232414.

rs1488812324 has merged into rs1479978746 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCTCCCT>-,CCCT [Show Flanks]
Chromosome:: 22:38958737 (GRCh38)
22:39354742 (GRCh37)
Canonical SPDI:: NC_000022.11:38958729:CCTCCCTCCCTCCCT:CCTCCCT,NC_000022.11:38958729:CCTCCCTCCCTCCCT:CCTCCCTCCCT
Gene:: APOBEC3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTCCCTCCCT=0./0 (ALFA)
-=0.00014/2 (TOMMO)
HGVS:: NC_000022.11:g.38958733CCCT[1], NC_000022.11:g.38958733CCCT[2], NC_000022.10:g.39354738CCCT[1], NC_000022.10:g.39354738CCCT[2], NW_003315972.2:g.74441CCCT[1], NW_003315972.2:g.74441CCCT[2], NW_003315972.1:g.74441CCCT[1], NW_003315972.1:g.74441CCCT[2]

Select item 148824439215.

rs1488244392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:38957256 (GRCh38)
22:39353261 (GRCh37)
Canonical SPDI:: NC_000022.11:38957255:G:A
Gene:: APOBEC3A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000022.11:g.38957256G>A, NC_000022.10:g.39353261G>A, NW_003315972.2:g.72964G>A, NW_003315972.1:g.72964G>A

Select item 148817220516.

rs1488172205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:38992883 (GRCh38)
22:39388888 (GRCh37)
Canonical SPDI:: NC_000022.11:38992882:G:A,NC_000022.11:38992882:G:C
Gene:: APOBEC3B (Varview), APOBEC3B-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.38992883G>A, NC_000022.11:g.38992883G>C, NC_000022.10:g.39388888G>A, NC_000022.10:g.39388888G>C, NW_003315972.2:g.78651G>A, NW_003315972.2:g.78651G>C, NW_003315972.1:g.78651G>A, NW_003315972.1:g.78651G>C

Select item 148791933317.

rs1487919333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:38958355 (GRCh38)
22:39354360 (GRCh37)
Canonical SPDI:: NC_000022.11:38958354:C:T
Gene:: APOBEC3A (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_000022.11:g.38958355C>T, NC_000022.10:g.39354360C>T, NW_003315972.2:g.74063C>T, NW_003315972.1:g.74063C>T

Select item 148789547518.

rs1487895475 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:38959625 (GRCh38)
22:39355630 (GRCh37)
Canonical SPDI:: NC_000022.11:38959624:A:G
Gene:: APOBEC3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000022.11:g.38959625A>G, NC_000022.10:g.39355630A>G, NW_003315972.2:g.75329A>G, NW_003315972.1:g.75329A>G, NM_145699.4:c.113A>G, NM_145699.3:c.113A>G, NM_001270406.2:c.59A>G, NM_001270406.1:c.59A>G, NM_001193289.1:c.113A>G, NP_663745.1:p.Glu38Gly, NP_001257335.1:p.Glu20Gly

Select item 148767711719.

rs1487677117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:38993179 (GRCh38)
22:39389184 (GRCh37)
Canonical SPDI:: NC_000022.11:38993178:C:G
Gene:: APOBEC3B (Varview), APOBEC3B-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.38993179C>G, NC_000022.10:g.39389184C>G, NW_003315972.2:g.78947C>G, NW_003315972.1:g.78947C>G