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Select item 14915192351.

rs1491519235 has merged into rs111969859 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:57669071 (GRCh38)
19:58180439 (GRCh37)
Canonical SPDI:: NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57669058:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZSCAN4 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.06279/242 (ALSPAC)
TT=0.06392/237 (TWINSUK)
HGVS:: NC_000019.10:g.57669071_57669078del, NC_000019.10:g.57669072_57669078del, NC_000019.10:g.57669073_57669078del, NC_000019.10:g.57669074_57669078del, NC_000019.10:g.57669075_57669078del, NC_000019.10:g.57669076_57669078del, NC_000019.10:g.57669077_57669078del, NC_000019.10:g.57669078del, NC_000019.10:g.57669078dup, NC_000019.10:g.57669077_57669078dup, NC_000019.10:g.57669076_57669078dup, NC_000019.10:g.57669075_57669078dup, NC_000019.10:g.57669074_57669078dup, NC_000019.10:g.57669059_57669078T[25]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.57669073_57669078dup, NC_000019.10:g.57669072_57669078dup, NC_000019.9:g.58180439_58180446del, NC_000019.9:g.58180440_58180446del, NC_000019.9:g.58180441_58180446del, NC_000019.9:g.58180442_58180446del, NC_000019.9:g.58180443_58180446del, NC_000019.9:g.58180444_58180446del, NC_000019.9:g.58180445_58180446del, NC_000019.9:g.58180446del, NC_000019.9:g.58180446dup, NC_000019.9:g.58180445_58180446dup, NC_000019.9:g.58180444_58180446dup, NC_000019.9:g.58180443_58180446dup, NC_000019.9:g.58180442_58180446dup, NC_000019.9:g.58180427_58180446T[25]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.58180441_58180446dup, NC_000019.9:g.58180440_58180446dup, NM_152677.4:c.-561_-554del, NM_152677.4:c.-560_-554del, NM_152677.4:c.-559_-554del, NM_152677.4:c.-558_-554del, NM_152677.4:c.-557_-554del, NM_152677.4:c.-556_-554del, NM_152677.4:c.-555_-554del, NM_152677.4:c.-554del, NM_152677.4:c.-554dup, NM_152677.4:c.-555_-554dup, NM_152677.4:c.-556_-554dup, NM_152677.4:c.-557_-554dup, NM_152677.4:c.-558_-554dup, NM_152677.4:c.-573_-554T[25]CTTTTTTTTTTTTTTTTTTTTT[1], NM_152677.4:c.-559_-554dup, NM_152677.4:c.-560_-554dup, NM_152677.3:c.-561_-554del, NM_152677.3:c.-560_-554del, NM_152677.3:c.-559_-554del, NM_152677.3:c.-558_-554del, NM_152677.3:c.-557_-554del, NM_152677.3:c.-556_-554del, NM_152677.3:c.-555_-554del, NM_152677.3:c.-554del, NM_152677.3:c.-554dup, NM_152677.3:c.-555_-554dup, NM_152677.3:c.-556_-554dup, NM_152677.3:c.-557_-554dup, NM_152677.3:c.-558_-554dup, NM_152677.3:c.-573_-554T[25]CTTTTTTTTTTTTTTTTTTTTT[1], NM_152677.3:c.-559_-554dup, NM_152677.3:c.-560_-554dup, NM_152677.2:c.-561_-554del, NM_152677.2:c.-560_-554del, NM_152677.2:c.-559_-554del, NM_152677.2:c.-558_-554del, NM_152677.2:c.-557_-554del, NM_152677.2:c.-556_-554del, NM_152677.2:c.-555_-554del, NM_152677.2:c.-554del, NM_152677.2:c.-554dup, NM_152677.2:c.-555_-554dup, NM_152677.2:c.-556_-554dup, NM_152677.2:c.-557_-554dup, NM_152677.2:c.-558_-554dup, NM_152677.2:c.-573_-554T[25]CTTTTTTTTTTTTTTTTTTTTT[1], NM_152677.2:c.-559_-554dup, NM_152677.2:c.-560_-554dup

Select item 14914963802.

rs1491496380 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:57649837 (GRCh38)
19:58161205 (GRCh37)
Canonical SPDI:: NC_000019.10:57649836:CA:
Gene:: ZSCAN4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00253/30 (ALFA)
HGVS:: NC_000019.10:g.57649837_57649838del, NC_000019.9:g.58161205_58161206del

Select item 14914924253.

rs1491492425 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:57677419 (GRCh38)
19:58188787 (GRCh37)
Canonical SPDI:: NC_000019.10:57677418:AT:
Gene:: ZSCAN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/1 (GnomAD)
HGVS:: NC_000019.10:g.57677419_57677420del, NC_000019.9:g.58188787_58188788del

Select item 14914584864.

rs1491458486 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:57663707 (GRCh38)
19:58175075 (GRCh37)
Canonical SPDI:: NC_000019.10:57663706:CA:
Gene:: ZSCAN4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00011/3 (TOMMO)
HGVS:: NC_000019.10:g.57663707_57663708del, NC_000019.9:g.58175075_58175076del

Select item 14914393615.

rs1491439361 has merged into rs35190528 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:57663720 (GRCh38)
19:58175088 (GRCh37)
Canonical SPDI:: NC_000019.10:57663707:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:57663707:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:57663707:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:57663707:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:57663707:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:57663707:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:57663707:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:57663707:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57663707:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57663707:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57663707:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57663707:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZSCAN4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.474/2374 (1000Genomes)
HGVS:: NC_000019.10:g.57663720_57663727del, NC_000019.10:g.57663721_57663727del, NC_000019.10:g.57663723_57663727del, NC_000019.10:g.57663724_57663727del, NC_000019.10:g.57663725_57663727del, NC_000019.10:g.57663726_57663727del, NC_000019.10:g.57663727del, NC_000019.10:g.57663727dup, NC_000019.10:g.57663726_57663727dup, NC_000019.10:g.57663725_57663727dup, NC_000019.10:g.57663722_57663727dup, NC_000019.10:g.57663721_57663727dup, NC_000019.9:g.58175088_58175095del, NC_000019.9:g.58175089_58175095del, NC_000019.9:g.58175091_58175095del, NC_000019.9:g.58175092_58175095del, NC_000019.9:g.58175093_58175095del, NC_000019.9:g.58175094_58175095del, NC_000019.9:g.58175095del, NC_000019.9:g.58175095dup, NC_000019.9:g.58175094_58175095dup, NC_000019.9:g.58175093_58175095dup, NC_000019.9:g.58175090_58175095dup, NC_000019.9:g.58175089_58175095dup

Select item 14914274196.

rs1491427419 has merged into rs34095542 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:57649846 (GRCh38)
19:58161214 (GRCh37)
Canonical SPDI:: NC_000019.10:57649837:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:57649837:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:57649837:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:57649837:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:57649837:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:57649837:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:57649837:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:57649837:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57649837:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57649837:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57649837:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57649837:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZSCAN4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.000004/1 (TOPMED)
A=0.434704/2177 (1000Genomes)
HGVS:: NC_000019.10:g.57649846_57649856del, NC_000019.10:g.57649852_57649856del, NC_000019.10:g.57649853_57649856del, NC_000019.10:g.57649854_57649856del, NC_000019.10:g.57649855_57649856del, NC_000019.10:g.57649856del, NC_000019.10:g.57649856dup, NC_000019.10:g.57649855_57649856dup, NC_000019.10:g.57649854_57649856dup, NC_000019.10:g.57649853_57649856dup, NC_000019.10:g.57649852_57649856dup, NC_000019.10:g.57649851_57649856dup, NC_000019.9:g.58161214_58161224del, NC_000019.9:g.58161220_58161224del, NC_000019.9:g.58161221_58161224del, NC_000019.9:g.58161222_58161224del, NC_000019.9:g.58161223_58161224del, NC_000019.9:g.58161224del, NC_000019.9:g.58161224dup, NC_000019.9:g.58161223_58161224dup, NC_000019.9:g.58161222_58161224dup, NC_000019.9:g.58161221_58161224dup, NC_000019.9:g.58161220_58161224dup, NC_000019.9:g.58161219_58161224dup

Select item 14914154497.

rs1491415449 has merged into rs71188043 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 19:57677429 (GRCh38)
19:58188797 (GRCh37)
Canonical SPDI:: NC_000019.10:57677419:TTTTTTTTTTT:TTTTTTTTT,NC_000019.10:57677419:TTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:57677419:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:57677419:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: ZSCAN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.3708/1857 (1000Genomes)
T=0.4161/1543 (TWINSUK)
T=0.4183/1612 (ALSPAC)
HGVS:: NC_000019.10:g.57677429_57677430del, NC_000019.10:g.57677430del, NC_000019.10:g.57677430dup, NC_000019.10:g.57677429_57677430dup, NC_000019.9:g.58188797_58188798del, NC_000019.9:g.58188798del, NC_000019.9:g.58188798dup, NC_000019.9:g.58188797_58188798dup

Select item 14912298868.

rs1491229886 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:57669058 (GRCh38)
19:58180426 (GRCh37)
Canonical SPDI:: NC_000019.10:57669057:CT:
Gene:: ZSCAN4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0024/9 (TWINSUK)
-=0.0039/15 (ALSPAC)
HGVS:: NC_000019.10:g.57669058_57669059del, NC_000019.9:g.58180426_58180427del, NM_152677.4:c.-574_-573del, NM_152677.3:c.-574_-573del, NM_152677.2:c.-574_-573del

Select item 14911768019.

rs1491176801 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 19:57653391 (GRCh38)
19:58164760 (GRCh37)
Canonical SPDI:: NC_000019.10:57653391:A:AGA
Gene:: ZSCAN4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.00002/2 (GnomAD)
HGVS:: NC_000019.10:g.57653392_57653393insGA, NC_000019.9:g.58164760_58164761insGA

Select item 149114883910.

rs1491148839 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:57667887 (GRCh38)
19:58179255 (GRCh37)
Canonical SPDI:: NC_000019.10:57667885:TGT:T
Gene:: ZSCAN4 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57667887_57667888del, NC_000019.9:g.58179255_58179256del

Select item 149105512711.

rs1491055127 has merged into rs11303340 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 19:57674974 (GRCh38)
19:58186342 (GRCh37)
Canonical SPDI:: NC_000019.10:57674956:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:57674956:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:57674956:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:57674956:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57674956:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57674956:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57674956:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57674956:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57674956:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57674956:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZSCAN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3225/1615 (1000Genomes)
HGVS:: NC_000019.10:g.57674974_57674976del, NC_000019.10:g.57674975_57674976del, NC_000019.10:g.57674976del, NC_000019.10:g.57674976dup, NC_000019.10:g.57674975_57674976dup, NC_000019.10:g.57674974_57674976dup, NC_000019.10:g.57674973_57674976dup, NC_000019.10:g.57674972_57674976dup, NC_000019.10:g.57674971_57674976dup, NC_000019.10:g.57674970_57674976dup, NC_000019.9:g.58186342_58186344del, NC_000019.9:g.58186343_58186344del, NC_000019.9:g.58186344del, NC_000019.9:g.58186344dup, NC_000019.9:g.58186343_58186344dup, NC_000019.9:g.58186342_58186344dup, NC_000019.9:g.58186341_58186344dup, NC_000019.9:g.58186340_58186344dup, NC_000019.9:g.58186339_58186344dup, NC_000019.9:g.58186338_58186344dup

Select item 149105298712.

rs1491052987 has merged into rs10553956 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 19:57666584 (GRCh38)
19:58177952 (GRCh37)
Canonical SPDI:: NC_000019.10:57666574:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:57666574:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:57666574:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:57666574:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:57666574:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:57666574:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:57666574:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:57666574:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ZSCAN4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.4802/2405 (1000Genomes)
HGVS:: NC_000019.10:g.57666584_57666590del, NC_000019.10:g.57666586_57666590del, NC_000019.10:g.57666587_57666590del, NC_000019.10:g.57666588_57666590del, NC_000019.10:g.57666589_57666590del, NC_000019.10:g.57666590del, NC_000019.10:g.57666590dup, NC_000019.10:g.57666589_57666590dup, NC_000019.9:g.58177952_58177958del, NC_000019.9:g.58177954_58177958del, NC_000019.9:g.58177955_58177958del, NC_000019.9:g.58177956_58177958del, NC_000019.9:g.58177957_58177958del, NC_000019.9:g.58177958del, NC_000019.9:g.58177958dup, NC_000019.9:g.58177957_58177958dup

Select item 149100792113.

rs1491007921 has merged into rs35157527 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 19:57671506 (GRCh38)
19:58182874 (GRCh37)
Canonical SPDI:: NC_000019.10:57671496:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:57671496:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:57671496:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:57671496:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:57671496:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:57671496:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:57671496:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:57671496:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:57671496:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:57671496:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:57671496:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: ZSCAN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.2/8 (GENOME_DK)
A=0.2722/1363 (1000Genomes)
HGVS:: NC_000019.10:g.57671506_57671511del, NC_000019.10:g.57671507_57671511del, NC_000019.10:g.57671508_57671511del, NC_000019.10:g.57671509_57671511del, NC_000019.10:g.57671510_57671511del, NC_000019.10:g.57671511del, NC_000019.10:g.57671511dup, NC_000019.10:g.57671510_57671511dup, NC_000019.10:g.57671509_57671511dup, NC_000019.10:g.57671508_57671511dup, NC_000019.10:g.57671507_57671511dup, NC_000019.9:g.58182874_58182879del, NC_000019.9:g.58182875_58182879del, NC_000019.9:g.58182876_58182879del, NC_000019.9:g.58182877_58182879del, NC_000019.9:g.58182878_58182879del, NC_000019.9:g.58182879del, NC_000019.9:g.58182879dup, NC_000019.9:g.58182878_58182879dup, NC_000019.9:g.58182877_58182879dup, NC_000019.9:g.58182876_58182879dup, NC_000019.9:g.58182875_58182879dup

Select item 149060250614.

rs1490602506 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAAAAT [Show Flanks]
Chromosome:: 19:57663534 (GRCh38)
19:58174903 (GRCh37)
Canonical SPDI:: NC_000019.10:57663534::TAAAAT
Gene:: ZSCAN4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TAAAAT=0.000753/102 (GnomAD)
TAAAAT=0.001093/7 (1000Genomes)
HGVS:: NC_000019.10:g.57663534_57663535insTAAAAT, NC_000019.9:g.58174902_58174903insTAAAAT

Select item 149058648215.

rs1490586482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:57671167 (GRCh38)
19:58182535 (GRCh37)
Canonical SPDI:: NC_000019.10:57671166:A:C
Gene:: ZSCAN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57671167A>C, NC_000019.9:g.58182535A>C

Select item 149051522516.

rs1490515225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57670341 (GRCh38)
19:58181709 (GRCh37)
Canonical SPDI:: NC_000019.10:57670340:T:C
Gene:: ZSCAN4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57670341T>C, NC_000019.9:g.58181709T>C, NM_152677.4:c.-332T>C, NM_152677.3:c.-332T>C, NM_152677.2:c.-332T>C, XM_017026458.1:c.-332T>C, NM_001384833.1:c.-332T>C

Select item 149044084817.

rs1490440848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:57663216 (GRCh38)
19:58174584 (GRCh37)
Canonical SPDI:: NC_000019.10:57663215:C:G,NC_000019.10:57663215:C:T
Gene:: ZSCAN4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57663216C>G, NC_000019.10:g.57663216C>T, NC_000019.9:g.58174584C>G, NC_000019.9:g.58174584C>T

Select item 149035586318.

rs1490355863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57679248 (GRCh38)
19:58190616 (GRCh37)
Canonical SPDI:: NC_000019.10:57679247:C:T
Gene:: ZSCAN4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000018/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.57679248C>T, NC_000019.9:g.58190616C>T

Select item 149031997219.

rs1490319972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:57668027 (GRCh38)
19:58179395 (GRCh37)
Canonical SPDI:: NC_000019.10:57668026:G:A,NC_000019.10:57668026:G:T
Gene:: ZSCAN4 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00039/7 (TOMMO)
A=0.00055/1 (Korea1K)
HGVS:: NC_000019.10:g.57668027G>A, NC_000019.10:g.57668027G>T, NC_000019.9:g.58179395G>A, NC_000019.9:g.58179395G>T

Select item 149008669320.

rs1490086693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:57650380 (GRCh38)
19:58161748 (GRCh37)
Canonical SPDI:: NC_000019.10:57650379:G:C
Gene:: ZSCAN4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.57650380G>C, NC_000019.9:g.58161748G>C

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