SNP Links for Gene (Select 23300) - SNP

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Select item 14914524071.

rs1491452407 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 16:81036401 (GRCh38)
16:81070006 (GRCh37)
Canonical SPDI:: NC_000016.10:81036400:GGGGGGG:GGGGGG,NC_000016.10:81036400:GGGGGGG:GGGGGGGG
Gene:: ATMIN (Varview), CENPN-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.000045/12 (TOPMED)
HGVS:: NC_000016.10:g.81036407del, NC_000016.10:g.81036407dup, NC_000016.9:g.81070012del, NC_000016.9:g.81070012dup, NW_025791800.1:g.84646del, NW_025791800.1:g.84646dup

Select item 14912152072.

rs1491215207 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:81036400 (GRCh38)
16:81070005 (GRCh37)
Canonical SPDI:: NC_000016.10:81036399:TG:
Gene:: ATMIN (Varview), CENPN-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.000042/11 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000016.10:g.81036400_81036401del, NC_000016.9:g.81070005_81070006del, NW_025791800.1:g.84639_84640del

Select item 14910633393.

rs1491063339 has merged into rs59245959 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:81047830 (GRCh38)
16:81081435 (GRCh37)
Canonical SPDI:: NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:81047821:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATMIN (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.81047830_81047840del, NC_000016.10:g.81047831_81047840del, NC_000016.10:g.81047832_81047840del, NC_000016.10:g.81047834_81047840del, NC_000016.10:g.81047835_81047840del, NC_000016.10:g.81047836_81047840del, NC_000016.10:g.81047837_81047840del, NC_000016.10:g.81047838_81047840del, NC_000016.10:g.81047839_81047840del, NC_000016.10:g.81047840del, NC_000016.10:g.81047840dup, NC_000016.10:g.81047839_81047840dup, NC_000016.10:g.81047838_81047840dup, NC_000016.10:g.81047837_81047840dup, NC_000016.10:g.81047836_81047840dup, NC_000016.10:g.81047834_81047840dup, NC_000016.10:g.81047832_81047840dup, NC_000016.9:g.81081435_81081445del, NC_000016.9:g.81081436_81081445del, NC_000016.9:g.81081437_81081445del, NC_000016.9:g.81081439_81081445del, NC_000016.9:g.81081440_81081445del, NC_000016.9:g.81081441_81081445del, NC_000016.9:g.81081442_81081445del, NC_000016.9:g.81081443_81081445del, NC_000016.9:g.81081444_81081445del, NC_000016.9:g.81081445del, NC_000016.9:g.81081445dup, NC_000016.9:g.81081444_81081445dup, NC_000016.9:g.81081443_81081445dup, NC_000016.9:g.81081442_81081445dup, NC_000016.9:g.81081441_81081445dup, NC_000016.9:g.81081439_81081445dup, NC_000016.9:g.81081437_81081445dup, NW_025791800.1:g.96069_96079del, NW_025791800.1:g.96070_96079del, NW_025791800.1:g.96071_96079del, NW_025791800.1:g.96073_96079del, NW_025791800.1:g.96074_96079del, NW_025791800.1:g.96075_96079del, NW_025791800.1:g.96076_96079del, NW_025791800.1:g.96077_96079del, NW_025791800.1:g.96078_96079del, NW_025791800.1:g.96079del, NW_025791800.1:g.96079dup, NW_025791800.1:g.96078_96079dup, NW_025791800.1:g.96077_96079dup, NW_025791800.1:g.96076_96079dup, NW_025791800.1:g.96075_96079dup, NW_025791800.1:g.96073_96079dup, NW_025791800.1:g.96071_96079dup

Select item 14902001724.

rs1490200172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:81043323 (GRCh38)
16:81076928 (GRCh37)
Canonical SPDI:: NC_000016.10:81043322:T:G
Gene:: ATMIN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.81043323T>G, NC_000016.9:g.81076928T>G, NW_025791800.1:g.91562T>G, NM_015251.3:c.825T>G, NM_015251.2:c.825T>G, NM_001300728.2:c.357T>G, NM_001300728.1:c.357T>G, NP_056066.2:p.Cys275Trp, NP_001287657.1:p.Cys119Trp

Select item 14901476765.

rs1490147676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:81036610 (GRCh38)
16:81070215 (GRCh37)
Canonical SPDI:: NC_000016.10:81036609:T:A
Gene:: ATMIN (Varview), CENPN-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000016.10:g.81036610T>A, NC_000016.9:g.81070215T>A, NW_025791800.1:g.84849T>A

Select item 14897843716.

rs1489784371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:81046694 (GRCh38)
16:81080299 (GRCh37)
Canonical SPDI:: NC_000016.10:81046693:C:T
Gene:: ATMIN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.81046694C>T, NC_000016.9:g.81080299C>T, NW_025791800.1:g.94933C>T, NM_015251.3:c.*1724C>T, NM_015251.2:c.*1724C>T, NM_001300728.2:c.*1724C>T, NM_001300728.1:c.*1724C>T

Select item 14896525377.

rs1489652537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:81036892 (GRCh38)
16:81070497 (GRCh37)
Canonical SPDI:: NC_000016.10:81036891:G:A
Gene:: ATMIN (Varview), CENPN-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.81036892G>A, NC_000016.9:g.81070497G>A, NW_025791800.1:g.85131G>A, XR_007065134.1:n.3420C>T, XR_007069542.1:n.3420C>T

Select item 14895256148.

rs1489525614 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 16:81040688 (GRCh38)
16:81074293 (GRCh37)
Canonical SPDI:: NC_000016.10:81040686:TTT:T,NC_000016.10:81040686:TTT:TTTTT
Gene:: ATMIN (Varview), CENPN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.81040688_81040689del, NC_000016.10:g.81040688_81040689dup, NC_000016.9:g.81074293_81074294del, NC_000016.9:g.81074293_81074294dup, NW_025791800.1:g.88927_88928del, NW_025791800.1:g.88927_88928dup

Select item 14894796829.

rs1489479682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:81044463 (GRCh38)
16:81078068 (GRCh37)
Canonical SPDI:: NC_000016.10:81044462:A:G
Gene:: ATMIN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.81044463A>G, NC_000016.9:g.81078068A>G, NW_025791800.1:g.92702A>G, NM_015251.3:c.1965A>G, NM_015251.2:c.1965A>G, NM_001300728.2:c.1497A>G, NM_001300728.1:c.1497A>G

Select item 148944100310.

rs1489441003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:81039970 (GRCh38)
16:81073575 (GRCh37)
Canonical SPDI:: NC_000016.10:81039969:A:G
Gene:: ATMIN (Varview), CENPN-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_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_000016.10:g.81039970A>G, NC_000016.9:g.81073575A>G, NW_025791800.1:g.88209A>G, XR_007065134.1:n.342T>C, XR_007069542.1:n.342T>C

Select item 148941101411.

rs1489411014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:81040930 (GRCh38)
16:81074535 (GRCh37)
Canonical SPDI:: NC_000016.10:81040929:A:G
Gene:: ATMIN (Varview), CENPN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.81040930A>G, NC_000016.9:g.81074535A>G, NW_025791800.1:g.89169A>G

Select item 148923836012.

rs1489238360 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:81034724 (GRCh38)
16:81068329 (GRCh37)
Canonical SPDI:: NC_000016.10:81034721:AGAG:AG
Gene:: ATMIN (Varview), CENPN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.81034722AG[1], NC_000016.9:g.81068327AG[1], NW_025791800.1:g.82961AG[1]

Select item 148872771113.

rs1488727711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:81033861 (GRCh38)
16:81067466 (GRCh37)
Canonical SPDI:: NC_000016.10:81033860:T:C
Gene:: ATMIN (Varview), CENPN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.81033861T>C, NC_000016.9:g.81067466T>C, NW_025791800.1:g.82100T>C

Select item 148870801014.

rs1488708010 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 16:81038227 (GRCh38)
16:81071832 (GRCh37)
Canonical SPDI:: NC_000016.10:81038226:TT:T
Gene:: ATMIN (Varview), CENPN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000068/18 (TOPMED)
-=0.000079/11 (GnomAD)
HGVS:: NC_000016.10:g.81038228del, NC_000016.9:g.81071833del, NW_025791800.1:g.86467del, XR_007065134.1:n.2085del, XR_007069542.1:n.2085del

Select item 148864023115.

rs1488640231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:81040355 (GRCh38)
16:81073960 (GRCh37)
Canonical SPDI:: NC_000016.10:81040354:G:C
Gene:: ATMIN (Varview), CENPN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.81040355G>C, NC_000016.9:g.81073960G>C, NW_025791800.1:g.88594G>C

Select item 148844014416.

rs1488440144 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:81044097 (GRCh38)
16:81077702 (GRCh37)
Canonical SPDI:: NC_000016.10:81044096:A:T
Gene:: ATMIN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.81044097A>T, NC_000016.9:g.81077702A>T, NW_025791800.1:g.92336A>T, NM_015251.3:c.1599A>T, NM_015251.2:c.1599A>T, NM_001300728.2:c.1131A>T, NM_001300728.1:c.1131A>T

Select item 148814184617.

rs1488141846 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 16:81043124 (GRCh38)
16:81076729 (GRCh37)
Canonical SPDI:: NC_000016.10:81043123:TTTT:TTT
Gene:: ATMIN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.81043127del, NC_000016.9:g.81076732del, NW_025791800.1:g.91366del

Select item 148808657918.

rs1488086579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:81042446 (GRCh38)
16:81076051 (GRCh37)
Canonical SPDI:: NC_000016.10:81042445:T:A
Gene:: ATMIN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.81042446T>A, NC_000016.9:g.81076051T>A, NW_025791800.1:g.90685T>A, NM_015251.3:c.628T>A, NM_015251.2:c.628T>A, NM_001300728.2:c.160T>A, NM_001300728.1:c.160T>A, NP_056066.2:p.Tyr210Asn, NP_001287657.1:p.Tyr54Asn

Select item 148799122919.

rs1487991229 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:81042014 (GRCh38)
16:81075619 (GRCh37)
Canonical SPDI:: NC_000016.10:81042013:A:G
Gene:: ATMIN (Varview), CENPN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.81042014A>G, NC_000016.9:g.81075619A>G, NW_025791800.1:g.90253A>G

Select item 148779512720.

rs1487795127 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:81043799 (GRCh38)
16:81077404 (GRCh37)
Canonical SPDI:: NC_000016.10:81043798:A:T
Gene:: ATMIN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.81043799A>T, NC_000016.9:g.81077404A>T, NW_025791800.1:g.92038A>T, NM_015251.3:c.1301A>T, NM_015251.2:c.1301A>T, NM_001300728.2:c.833A>T, NM_001300728.1:c.833A>T, NP_056066.2:p.Asp434Val, NP_001287657.1:p.Asp278Val

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