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Select item 14912285821.

rs1491228582 has merged into rs67290425 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:57375670 (GRCh38)
19:57887038 (GRCh37)
Canonical SPDI:: NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57375661:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
AAAAAAAAAAAAAAAAAA=0.0153/59 (ALSPAC)
AAAAAAAAAAAAAAAAAA=0.0154/57 (TWINSUK)
AAAAAAAAAAAAAAAAAA=0.131/656 (1000Genomes)
HGVS:: NC_000019.10:g.57375670_57375687del, NC_000019.10:g.57375671_57375687del, NC_000019.10:g.57375673_57375687del, NC_000019.10:g.57375674_57375687del, NC_000019.10:g.57375675_57375687del, NC_000019.10:g.57375676_57375687del, NC_000019.10:g.57375677_57375687del, NC_000019.10:g.57375678_57375687del, NC_000019.10:g.57375679_57375687del, NC_000019.10:g.57375680_57375687del, NC_000019.10:g.57375681_57375687del, NC_000019.10:g.57375682_57375687del, NC_000019.10:g.57375683_57375687del, NC_000019.10:g.57375684_57375687del, NC_000019.10:g.57375685_57375687del, NC_000019.10:g.57375686_57375687del, NC_000019.10:g.57375687del, NC_000019.10:g.57375687dup, NC_000019.10:g.57375686_57375687dup, NC_000019.10:g.57375685_57375687dup, NC_000019.10:g.57375683_57375687dup, NC_000019.9:g.57887038_57887055del, NC_000019.9:g.57887039_57887055del, NC_000019.9:g.57887041_57887055del, NC_000019.9:g.57887042_57887055del, NC_000019.9:g.57887043_57887055del, NC_000019.9:g.57887044_57887055del, NC_000019.9:g.57887045_57887055del, NC_000019.9:g.57887046_57887055del, NC_000019.9:g.57887047_57887055del, NC_000019.9:g.57887048_57887055del, NC_000019.9:g.57887049_57887055del, NC_000019.9:g.57887050_57887055del, NC_000019.9:g.57887051_57887055del, NC_000019.9:g.57887052_57887055del, NC_000019.9:g.57887053_57887055del, NC_000019.9:g.57887054_57887055del, NC_000019.9:g.57887055del, NC_000019.9:g.57887055dup, NC_000019.9:g.57887054_57887055dup, NC_000019.9:g.57887053_57887055dup, NC_000019.9:g.57887051_57887055dup

Select item 14912129682.

rs1491212968 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:57375661 (GRCh38)
19:57887029 (GRCh37)
Canonical SPDI:: NC_000019.10:57375660:CA:
Gene:: ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00177/21 (ALFA)
HGVS:: NC_000019.10:g.57375661_57375662del, NC_000019.9:g.57887029_57887030del

Select item 14911040013.

rs1491104001 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:57363014 (GRCh38)
19:57874382 (GRCh37)
Canonical SPDI:: NC_000019.10:57363011:AGAG:AG
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.001334/21 (ALFA)
-=0.002267/318 (GnomAD)
-=0.002697/10 (TWINSUK)
-=0.002854/11 (ALSPAC)
-=0.006667/4 (NorthernSweden)
-=0.006696/3 (1000Genomes)
HGVS:: NC_000019.10:g.57363012AG[1], NC_000019.9:g.57874380AG[1]

Select item 14909118154.

rs1490911815 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 19:57370140 (GRCh38)
19:57881508 (GRCh37)
Canonical SPDI:: NC_000019.10:57370134:TCCTCCTC:TCCTC
Gene:: ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTC=0.000132/2 (ALFA)
-=0./0 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.57370137CTC[1], NC_000019.9:g.57881505CTC[1]

Select item 14904567765.

rs1490456776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:57368549 (GRCh38)
19:57879917 (GRCh37)
Canonical SPDI:: NC_000019.10:57368548:C:G
Gene:: ZNF547 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57368549C>G, NC_000019.9:g.57879917C>G, NM_173631.4:c.-7C>G, NM_173631.3:c.-7C>G, NM_173631.2:c.-7C>G

Select item 14903717876.

rs1490371787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57374417 (GRCh38)
19:57885785 (GRCh37)
Canonical SPDI:: NC_000019.10:57374416:C:T
Gene:: ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57374417C>T, NC_000019.9:g.57885785C>T

Select item 14902741977.

rs1490274197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:57368646 (GRCh38)
19:57880014 (GRCh37)
Canonical SPDI:: NC_000019.10:57368645:A:C
Gene:: ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.57368646A>C, NC_000019.9:g.57880014A>C

Select item 14900881618.

rs1490088161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:57361543 (GRCh38)
19:57872911 (GRCh37)
Canonical SPDI:: NC_000019.10:57361542:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57361543G>C, NC_000019.9:g.57872911G>C, NG_051201.1:g.15291G>C

Select item 14900450649.

rs1490045064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:57375351 (GRCh38)
19:57886719 (GRCh37)
Canonical SPDI:: NC_000019.10:57375350:A:G,NC_000019.10:57375350:A:T
Gene:: ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57375351A>G, NC_000019.10:g.57375351A>T, NC_000019.9:g.57886719A>G, NC_000019.9:g.57886719A>T

Select item 148994424710.

rs1489944247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:57368841 (GRCh38)
19:57880209 (GRCh37)
Canonical SPDI:: NC_000019.10:57368840:G:T
Gene:: ZNF547 (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_000019.10:g.57368841G>T, NC_000019.9:g.57880209G>T

Select item 148988078511.

rs1489880785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57374910 (GRCh38)
19:57886278 (GRCh37)
Canonical SPDI:: NC_000019.10:57374909:C:T
Gene:: ZNF547 (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_000019.10:g.57374910C>T, NC_000019.9:g.57886278C>T

Select item 148935349212.

rs1489353492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:57363121 (GRCh38)
19:57874489 (GRCh37)
Canonical SPDI:: NC_000019.10:57363120:A:T
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000566/9 (TOMMO)
HGVS:: NC_000019.10:g.57363121A>T, NC_000019.9:g.57874489A>T

Select item 148932148113.

rs1489321481 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:57375660 (GRCh38)
19:57887028 (GRCh37)
Canonical SPDI:: NC_000019.10:57375659:T:
Gene:: ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
-=0.00007/2 (TOMMO)
HGVS:: NC_000019.10:g.57375660del, NC_000019.9:g.57887028del

Select item 148919893814.

rs1489198938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57364720 (GRCh38)
19:57876088 (GRCh37)
Canonical SPDI:: NC_000019.10:57364719:G:A
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
A=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.57364720G>A, NC_000019.9:g.57876088G>A

Select item 148915954415.

rs1489159544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57377363 (GRCh38)
19:57888731 (GRCh37)
Canonical SPDI:: NC_000019.10:57377362:T:C
Gene:: ZNF547 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57377363T>C, NC_000019.9:g.57888731T>C, NM_173631.4:c.387T>C, NM_173631.3:c.387T>C, NM_173631.2:c.387T>C

Select item 148914972916.

rs1489149729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57366343 (GRCh38)
19:57877711 (GRCh37)
Canonical SPDI:: NC_000019.10:57366342:G:A
Gene:: ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57366343G>A, NC_000019.9:g.57877711G>A

Select item 148893719517.

rs1488937195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57376045 (GRCh38)
19:57887413 (GRCh37)
Canonical SPDI:: NC_000019.10:57376044:C:T
Gene:: ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57376045C>T, NC_000019.9:g.57887413C>T

Select item 148891176918.

rs1488911769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57378489 (GRCh38)
19:57889857 (GRCh37)
Canonical SPDI:: NC_000019.10:57378488:G:A
Gene:: ZNF547 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57378489G>A, NC_000019.9:g.57889857G>A, NM_173631.4:c.*304G>A, NM_173631.3:c.*304G>A, NM_173631.2:c.*304G>A

Select item 148886943519.

rs1488869435 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACC,GCC,TCC [Show Flanks]
Chromosome:: 19:57363728 (GRCh38)
19:57875097 (GRCh37)
Canonical SPDI:: NC_000019.10:57363728:CC:CCACC,NC_000019.10:57363728:CC:CCGCC,NC_000019.10:57363728:CC:CCTCC
Gene:: TRAPPC2B (Varview), ZNF547 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCC=0./0 (ALFA)
CCT=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57363730_57363731insACC, NC_000019.10:g.57363730_57363731insGCC, NC_000019.10:g.57363730_57363731insTCC, NC_000019.9:g.57875098_57875099insACC, NC_000019.9:g.57875098_57875099insGCC, NC_000019.9:g.57875098_57875099insTCC

Select item 148883432820.

rs1488834328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57377702 (GRCh38)
19:57889070 (GRCh37)
Canonical SPDI:: NC_000019.10:57377701:C:T
Gene:: ZNF547 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57377702C>T, NC_000019.9:g.57889070C>T, NM_173631.4:c.726C>T, NM_173631.3:c.726C>T, NM_173631.2:c.726C>T

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