SNP Links for Gene (Select 55248) - SNP

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Select item 14914331681.

rs1491433168 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:212381695 (GRCh38)
1:212555037 (GRCh37)
Canonical SPDI:: NC_000001.11:212381694:GC:
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.0004/29 (GnomAD)
HGVS:: NC_000001.11:g.212381695_212381696del, NC_000001.10:g.212555037_212555038del

Select item 14913846932.

rs1491384693 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACACACACACAC [Show Flanks]
Chromosome:: 1:212381695 (GRCh38)
1:212555038 (GRCh37)
Canonical SPDI:: NC_000001.11:212381695::ACACACACACAC
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.212381695_212381696insACACACACACAC, NC_000001.10:g.212555037_212555038insACACACACACAC

Select item 14913649613.

rs1491364961 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:212368699 (GRCh38)
1:212542042 (GRCh37)
Canonical SPDI:: NC_000001.11:212368699:A:AA
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.212368700dup, NC_000001.10:g.212542042dup

Select item 14913448264.

rs1491344826 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:212371241 (GRCh38)
1:212544583 (GRCh37)
Canonical SPDI:: NC_000001.11:212371240:CA:
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.212371241_212371242del, NC_000001.10:g.212544583_212544584del

Select item 14913073695.

rs1491307369 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:212365429 (GRCh38)
1:212538771 (GRCh37)
Canonical SPDI:: NC_000001.11:212365427:TCT:T
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00154/82 (ExAC)
HGVS:: NC_000001.11:g.212365429_212365430del, NC_000001.10:g.212538771_212538772del

Select item 14912517576.

rs1491251757 has merged into rs770201392 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:212401638 (GRCh38)
1:212574980 (GRCh37)
Canonical SPDI:: NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:212401622:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAA=0.0071/3 (NorthernSweden)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000001.11:g.212401638_212401645del, NC_000001.11:g.212401639_212401645del, NC_000001.11:g.212401641_212401645del, NC_000001.11:g.212401642_212401645del, NC_000001.11:g.212401643_212401645del, NC_000001.11:g.212401644_212401645del, NC_000001.11:g.212401645del, NC_000001.11:g.212401645dup, NC_000001.11:g.212401644_212401645dup, NC_000001.11:g.212401643_212401645dup, NC_000001.11:g.212401642_212401645dup, NC_000001.11:g.212401641_212401645dup, NC_000001.11:g.212401628_212401645dup, NC_000001.10:g.212574980_212574987del, NC_000001.10:g.212574981_212574987del, NC_000001.10:g.212574983_212574987del, NC_000001.10:g.212574984_212574987del, NC_000001.10:g.212574985_212574987del, NC_000001.10:g.212574986_212574987del, NC_000001.10:g.212574987del, NC_000001.10:g.212574987dup, NC_000001.10:g.212574986_212574987dup, NC_000001.10:g.212574985_212574987dup, NC_000001.10:g.212574984_212574987dup, NC_000001.10:g.212574983_212574987dup, NC_000001.10:g.212574970_212574987dup

Select item 14911923497.

rs1491192349 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:212401622 (GRCh38)
1:212574964 (GRCh37)
Canonical SPDI:: NC_000001.11:212401621:CA:
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.212401622_212401623del, NC_000001.10:g.212574964_212574965del

Select item 14911880818.

rs1491188081 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 1:212371241 (GRCh38)
1:212544584 (GRCh37)
Canonical SPDI:: NC_000001.11:212371241::CA
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
HGVS:: NC_000001.11:g.212371241_212371242insCA, NC_000001.10:g.212544583_212544584insCA

Select item 14910403319.

rs1491040331 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:212371260 (GRCh38)
1:212544602 (GRCh37)
Canonical SPDI:: NC_000001.11:212371258:AGA:A
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.014886/243 (ALFA)
-=0.000109/3 (TOMMO)
-=0.020072/2296 (GnomAD)
HGVS:: NC_000001.11:g.212371260_212371261del, NC_000001.10:g.212544602_212544603del

Select item 149102742410.

rs1491027424 has merged into rs60126911 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 1:212369035 (GRCh38)
1:212542377 (GRCh37)
Canonical SPDI:: NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
A=0.16873/845 (1000Genomes)
HGVS:: NC_000001.11:g.212369035_212369040del, NC_000001.11:g.212369036_212369040del, NC_000001.11:g.212369037_212369040del, NC_000001.11:g.212369038_212369040del, NC_000001.11:g.212369039_212369040del, NC_000001.11:g.212369040del, NC_000001.11:g.212369040dup, NC_000001.11:g.212369039_212369040dup, NC_000001.11:g.212369038_212369040dup, NC_000001.11:g.212369037_212369040dup, NC_000001.10:g.212542377_212542382del, NC_000001.10:g.212542378_212542382del, NC_000001.10:g.212542379_212542382del, NC_000001.10:g.212542380_212542382del, NC_000001.10:g.212542381_212542382del, NC_000001.10:g.212542382del, NC_000001.10:g.212542382dup, NC_000001.10:g.212542381_212542382dup, NC_000001.10:g.212542380_212542382dup, NC_000001.10:g.212542379_212542382dup

Select item 149102654811.

rs1491026548 has merged into rs371961398 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA,TATATATA [Show Flanks]
Chromosome:: 1:212374208 (GRCh38)
1:212547550 (GRCh37)
Canonical SPDI:: NC_000001.11:212374195:TATATATATATATA:TATATATATATA,NC_000001.11:212374195:TATATATATATATA:TATATATATATATATA,NC_000001.11:212374195:TATATATATATATA:TATATATATATATATATA,NC_000001.11:212374195:TATATATATATATA:TATATATATATATATATATA
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATA=0./0 (ALFA)
-=0.00022/1 (Estonian)
-=0.00167/1 (NorthernSweden)
-=0.00262/44 (TOMMO)
HGVS:: NC_000001.11:g.212374196TA[6], NC_000001.11:g.212374196TA[8], NC_000001.11:g.212374196TA[9], NC_000001.11:g.212374196TA[10], NC_000001.10:g.212547538TA[6], NC_000001.10:g.212547538TA[8], NC_000001.10:g.212547538TA[9], NC_000001.10:g.212547538TA[10]

Select item 149100990312.

rs1491009903 has merged into rs56708545 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 1:212372287 (GRCh38)
1:212545629 (GRCh37)
Canonical SPDI:: NC_000001.11:212372282:AAAAAAAAAAAA:AAAA,NC_000001.11:212372282:AAAAAAAAAAAA:AAAAA,NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAA,NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAA,NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
A=0.1688/626 (TWINSUK)
A=0.1819/701 (ALSPAC)
A=0.2/8 (GENOME_DK)
A=0.2059/1031 (1000Genomes)
A=0.244/446 (Korea1K)
A=0.2623/139 (NorthernSweden)
HGVS:: NC_000001.11:g.212372287_212372294del, NC_000001.11:g.212372288_212372294del, NC_000001.11:g.212372289_212372294del, NC_000001.11:g.212372290_212372294del, NC_000001.11:g.212372292_212372294del, NC_000001.11:g.212372293_212372294del, NC_000001.11:g.212372294del, NC_000001.11:g.212372294dup, NC_000001.11:g.212372293_212372294dup, NC_000001.10:g.212545629_212545636del, NC_000001.10:g.212545630_212545636del, NC_000001.10:g.212545631_212545636del, NC_000001.10:g.212545632_212545636del, NC_000001.10:g.212545634_212545636del, NC_000001.10:g.212545635_212545636del, NC_000001.10:g.212545636del, NC_000001.10:g.212545636dup, NC_000001.10:g.212545635_212545636dup

Select item 149079838013.

rs1490798380 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAAT>- [Show Flanks]
Chromosome:: 1:212364904 (GRCh38)
1:212538246 (GRCh37)
Canonical SPDI:: NC_000001.11:212364895:AATACAATACAAT:AATACAAT
Gene:: PACC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATACAAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.212364899ACAAT[1], NC_000001.10:g.212538241ACAAT[1], XM_011509718.4:c.*468GTATT[1], XM_011509718.3:c.*468GTATT[1], XM_011509718.2:c.*468GTATT[1], NM_018252.3:c.*310GTATT[1], NM_018252.2:c.*310GTATT[1], NM_001198862.2:c.*310GTATT[1], NM_001198862.1:c.*310GTATT[1], NR_165303.1:n.1583GTATT[1], XM_047424316.1:c.*310GTATT[1], XM_047424317.1:c.*310GTATT[1], NM_001377479.1:c.*310GTATT[1], NM_001377480.1:c.*468GTATT[1], NM_001377478.1:c.*310GTATT[1], XM_047424319.1:c.*310GTATT[1], XM_047424318.1:c.*468GTATT[1], XM_047424320.1:c.*468GTATT[1]

Select item 149074408314.

rs1490744083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:212398299 (GRCh38)
1:212571641 (GRCh37)
Canonical SPDI:: NC_000001.11:212398298:T:A
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.212398299T>A, NC_000001.10:g.212571641T>A

Select item 149072931315.

rs1490729313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:212401043 (GRCh38)
1:212574385 (GRCh37)
Canonical SPDI:: NC_000001.11:212401042:G:A,NC_000001.11:212401042:G:T
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.212401043G>A, NC_000001.11:g.212401043G>T, NC_000001.10:g.212574385G>A, NC_000001.10:g.212574385G>T

Select item 149068579916.

rs1490685799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:212393142 (GRCh38)
1:212566484 (GRCh37)
Canonical SPDI:: NC_000001.11:212393141:A:C
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.212393142A>C, NC_000001.10:g.212566484A>C

Select item 149059190217.

rs1490591902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:212378037 (GRCh38)
1:212551379 (GRCh37)
Canonical SPDI:: NC_000001.11:212378036:T:C
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.212378037T>C, NC_000001.10:g.212551379T>C

Select item 149052474618.

rs1490524746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:212382124 (GRCh38)
1:212555466 (GRCh37)
Canonical SPDI:: NC_000001.11:212382123:C:A,NC_000001.11:212382123:C:T
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000106/2 (TOMMO)
T=0.001027/3 (KOREAN)
T=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.212382124C>A, NC_000001.11:g.212382124C>T, NC_000001.10:g.212555466C>A, NC_000001.10:g.212555466C>T

Select item 149049814619.

rs1490498146 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:212393685 (GRCh38)
1:212567027 (GRCh37)
Canonical SPDI:: NC_000001.11:212393684:G:
Gene:: PACC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.212393685del, NC_000001.10:g.212567027del

Select item 149047459520.

rs1490474595 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212384077 (GRCh38)
1:212557419 (GRCh37)
Canonical SPDI:: NC_000001.11:212384076:A:G
Gene:: PACC1 (Varview)
Functional Consequence:: intron_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_000001.11:g.212384077A>G, NC_000001.10:g.212557419A>G

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