SNP Links for Gene (Select 23613) - SNP

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Select item 14915872551.

rs1491587255 has merged into rs34474269 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:47270708 (GRCh38)
20:45899452 (GRCh37)
Canonical SPDI:: NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47270697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZMYND8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
-=0.4653/2330 (1000Genomes)
HGVS:: NC_000020.11:g.47270708_47270719del, NC_000020.11:g.47270709_47270719del, NC_000020.11:g.47270710_47270719del, NC_000020.11:g.47270711_47270719del, NC_000020.11:g.47270712_47270719del, NC_000020.11:g.47270713_47270719del, NC_000020.11:g.47270714_47270719del, NC_000020.11:g.47270715_47270719del, NC_000020.11:g.47270716_47270719del, NC_000020.11:g.47270717_47270719del, NC_000020.11:g.47270718_47270719del, NC_000020.11:g.47270719del, NC_000020.11:g.47270719dup, NC_000020.11:g.47270718_47270719dup, NC_000020.11:g.47270717_47270719dup, NC_000020.11:g.47270716_47270719dup, NC_000020.11:g.47270715_47270719dup, NC_000020.11:g.47270714_47270719dup, NC_000020.11:g.47270713_47270719dup, NC_000020.11:g.47270712_47270719dup, NC_000020.11:g.47270711_47270719dup, NC_000020.11:g.47270707_47270719dup, NC_000020.11:g.47270706_47270719dup, NC_000020.11:g.47270705_47270719dup, NC_000020.11:g.47270701_47270719dup, NC_000020.11:g.47270700_47270719dup, NC_000020.11:g.47270698_47270719dup, NC_000020.10:g.45899452_45899463del, NC_000020.10:g.45899453_45899463del, NC_000020.10:g.45899454_45899463del, NC_000020.10:g.45899455_45899463del, NC_000020.10:g.45899456_45899463del, NC_000020.10:g.45899457_45899463del, NC_000020.10:g.45899458_45899463del, NC_000020.10:g.45899459_45899463del, NC_000020.10:g.45899460_45899463del, NC_000020.10:g.45899461_45899463del, NC_000020.10:g.45899462_45899463del, NC_000020.10:g.45899463del, NC_000020.10:g.45899463dup, NC_000020.10:g.45899462_45899463dup, NC_000020.10:g.45899461_45899463dup, NC_000020.10:g.45899460_45899463dup, NC_000020.10:g.45899459_45899463dup, NC_000020.10:g.45899458_45899463dup, NC_000020.10:g.45899457_45899463dup, NC_000020.10:g.45899456_45899463dup, NC_000020.10:g.45899455_45899463dup, NC_000020.10:g.45899451_45899463dup, NC_000020.10:g.45899450_45899463dup, NC_000020.10:g.45899449_45899463dup, NC_000020.10:g.45899445_45899463dup, NC_000020.10:g.45899444_45899463dup, NC_000020.10:g.45899442_45899463dup

Select item 14915751902.

rs1491575190 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 20:47255804 (GRCh38)
20:45884548 (GRCh37)
Canonical SPDI:: NC_000020.11:47255803:GT:
Gene:: ZMYND8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.47255804_47255805del, NC_000020.10:g.45884548_45884549del

Select item 14915625743.

rs1491562574 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:47210428 (GRCh38)
20:45839073 (GRCh37)
Canonical SPDI:: NC_000020.11:47210427:TA:
Gene:: ZMYND8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000422/5 (ALFA)
-=0.000351/48 (GnomAD)
-=0.000781/5 (1000Genomes)
HGVS:: NC_000020.11:g.47210428_47210429del, NC_000020.10:g.45839073_45839074del, NM_012408.6:c.*332_*333del, NM_012408.5:c.*332_*333del, NM_012408.4:c.*332_*333del, NM_012408.3:c.*332_*333del, NM_183047.4:c.*332_*333del, NM_183047.3:c.*332_*333del, NM_183047.2:c.*332_*333del, NM_183047.1:c.*332_*333del, NM_183048.4:c.*332_*333del, NM_183048.3:c.*332_*333del, NM_183048.2:c.*332_*333del, NM_183048.1:c.*332_*333del, NM_001281773.3:c.*332_*333del, NM_001281773.2:c.*332_*333del, NM_001281773.1:c.*332_*333del, NM_001281772.3:c.*332_*333del, NM_001281772.2:c.*332_*333del, NM_001281772.1:c.*332_*333del, NM_001281775.3:c.*332_*333del, NM_001281775.2:c.*332_*333del, NM_001281775.1:c.*332_*333del, NM_001281779.3:c.*332_*333del, NM_001281779.2:c.*332_*333del, NM_001281779.1:c.*332_*333del, NM_001281774.3:c.*332_*333del, NM_001281774.2:c.*332_*333del, NM_001281774.1:c.*332_*333del, NM_001281783.3:c.*332_*333del, NM_001281783.2:c.*332_*333del, NM_001281783.1:c.*332_*333del, NM_001281780.3:c.*332_*333del, NM_001281780.2:c.*332_*333del, NM_001281780.1:c.*332_*333del, NM_001281778.3:c.*332_*333del, NM_001281778.2:c.*332_*333del, NM_001281778.1:c.*332_*333del, NM_001281777.3:c.*332_*333del, NM_001281777.2:c.*332_*333del, NM_001281777.1:c.*332_*333del, NM_001281782.3:c.*332_*333del, NM_001281782.2:c.*332_*333del, NM_001281782.1:c.*332_*333del, NM_001281784.3:c.*332_*333del, NM_001281784.2:c.*332_*333del, NM_001281784.1:c.*332_*333del, NM_001281776.3:c.*332_*333del, NM_001281776.2:c.*332_*333del, NM_001281776.1:c.*332_*333del, NM_001281781.3:c.*332_*333del, NM_001281781.2:c.*332_*333del, NM_001281781.1:c.*332_*333del, NM_001281771.3:c.*332_*333del, NM_001281771.2:c.*332_*333del, NM_001281771.1:c.*332_*333del, NM_001363741.2:c.*332_*333del, NM_001363741.1:c.*332_*333del, NM_001363714.1:c.*332_*333del

Select item 14915609604.

rs1491560960 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTTT [Show Flanks]
Chromosome:: 20:47232907 (GRCh38)
20:45861644 (GRCh37)
Canonical SPDI:: NC_000020.11:47232907:TTTTTTT:TTTTTTTGTTTTTTT
Gene:: ZMYND8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTGTTTTTTT=0./0 (ALFA)
TTTTTTTG=0.000004/1 (TOPMED)
TTTTTTTG=0.000137/1 (GnomAD)
HGVS:: NC_000020.11:g.47232908_47232914T[7]GTTTTTTT[1], NC_000020.10:g.45861651_45861658dup

Select item 14915406735.

rs1491540673 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 20:47334596 (GRCh38)
20:45963341 (GRCh37)
Canonical SPDI:: NC_000020.11:47334596:A:ATA
Gene:: ZMYND8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.47334597_47334598insTA, NC_000020.10:g.45963341_45963342insTA

Select item 14915387116.

rs1491538711 has merged into rs56126751 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCTCCCCCCCCCC,CCCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCTCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 20:47358177 (GRCh38)
20:45986921 (GRCh37)
Canonical SPDI:: NC_000020.11:47358171:CCCCCCC:CCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCC,NC_000020.11:47358171:CCCCCCC:CCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCCC
Gene:: ZMYND8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
C=0.1/4 (GENOME_DK)
C=0.15372/570 (TWINSUK)
C=0.15615/782 (1000Genomes)
C=0.15862/710 (Estonian)
C=0.16424/633 (ALSPAC)
C=0.17333/104 (NorthernSweden)
HGVS:: NC_000020.11:g.47358177_47358178del, NC_000020.11:g.47358178del, NC_000020.11:g.47358178dup, NC_000020.11:g.47358177_47358178dup, NC_000020.11:g.47358176_47358178dup, NC_000020.11:g.47358174_47358178dup, NC_000020.11:g.47358173_47358178dup, NC_000020.11:g.47358172_47358178dup, NC_000020.11:g.47358178_47358179insCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358178_47358179insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.47358172_47358178C[23]TCCCCCCCCCC[1], NC_000020.11:g.47358172_47358178C[23]TCCCCCCCCCCCCCCCCC[1], NC_000020.11:g.47358172_47358178C[23]TCCCCCCCCCCCCCCCCCC[1], NC_000020.11:g.47358172_47358178C[22]GCCCCCCCCCCCCCCCCCCCCCC[1], NC_000020.11:g.47358172_47358178C[22]TCCCCCCCCCCCCC[1], NC_000020.11:g.47358172_47358178C[22]TCCCCCCCCCCCCCCCC[1], NC_000020.11:g.47358172_47358178C[22]TCCCCCCCCCCCCCCCCC[1], NC_000020.11:g.47358172_47358178C[20]TCCCCCCCCCCCCCCCCCC[1], NC_000020.10:g.45986921_45986922del, NC_000020.10:g.45986922del, NC_000020.10:g.45986922dup, NC_000020.10:g.45986921_45986922dup, NC_000020.10:g.45986920_45986922dup, NC_000020.10:g.45986918_45986922dup, NC_000020.10:g.45986917_45986922dup, NC_000020.10:g.45986916_45986922dup, NC_000020.10:g.45986922_45986923insCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986922_45986923insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.45986916_45986922C[23]TCCCCCCCCCC[1], NC_000020.10:g.45986916_45986922C[23]TCCCCCCCCCCCCCCCCC[1], NC_000020.10:g.45986916_45986922C[23]TCCCCCCCCCCCCCCCCCC[1], NC_000020.10:g.45986916_45986922C[22]GCCCCCCCCCCCCCCCCCCCCCC[1], NC_000020.10:g.45986916_45986922C[22]TCCCCCCCCCCCCC[1], NC_000020.10:g.45986916_45986922C[22]TCCCCCCCCCCCCCCCC[1], NC_000020.10:g.45986916_45986922C[22]TCCCCCCCCCCCCCCCCC[1], NC_000020.10:g.45986916_45986922C[20]TCCCCCCCCCCCCCCCCCC[1]

Select item 14915378687.

rs1491537868 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:47321856 (GRCh38)
20:45950600 (GRCh37)
Canonical SPDI:: NC_000020.11:47321855:CT:
Gene:: ZMYND8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000023/3 (GnomAD)
HGVS:: NC_000020.11:g.47321856_47321857del, NC_000020.10:g.45950600_45950601del

Select item 14915280138.

rs1491528013 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:47356346 (GRCh38)
20:45985091 (GRCh37)
Canonical SPDI:: NC_000020.11:47356346:G:GG
Gene:: ZMYND8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.47356347dup, NC_000020.10:g.45985091dup

Select item 14915209659.

rs1491520965 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:47272056 (GRCh38)
20:45900800 (GRCh37)
Canonical SPDI:: NC_000020.11:47272055:AG:
Gene:: ZMYND8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.47272056_47272057del, NC_000020.10:g.45900800_45900801del

Select item 149151943910.

rs1491519439 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:47354808 (GRCh38)
20:45983552 (GRCh37)
Canonical SPDI:: NC_000020.11:47354805:CTCT:CT
Gene:: ZMYND8 (Varview), LOC101927377 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000071/1 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000020.11:g.47354806CT[1], NC_000020.10:g.45983550CT[1]

Select item 149151301511.

rs1491513015 has merged into rs758568932 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:47232912 (GRCh38)
20:45861657 (GRCh37)
Canonical SPDI:: NC_000020.11:47232906:TTTTTTTTTTTTTTT:TTTTT,NC_000020.11:47232906:TTTTTTTTTTTTTTT:TTTTTT,NC_000020.11:47232906:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:47232906:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:47232906:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:47232906:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:47232906:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47232906:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47232906:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47232906:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47232906:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZMYND8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.08/48 (NorthernSweden)
HGVS:: NC_000020.11:g.47232912_47232921del, NC_000020.11:g.47232913_47232921del, NC_000020.11:g.47232920_47232921del, NC_000020.11:g.47232921del, NC_000020.11:g.47232921dup, NC_000020.11:g.47232920_47232921dup, NC_000020.11:g.47232915_47232921dup, NC_000020.11:g.47232914_47232921dup, NC_000020.11:g.47232913_47232921dup, NC_000020.11:g.47232911_47232921dup, NC_000020.11:g.47232921_47232922insTTTTTTTTTTTTTTTTTT, NC_000020.10:g.45861665dup, NC_000020.10:g.45861657_45861665del, NC_000020.10:g.45861658_45861665del, NC_000020.10:g.45861665del, NC_000020.10:g.45861664_45861665dup, NC_000020.10:g.45861663_45861665dup, NC_000020.10:g.45861658_45861665dup, NC_000020.10:g.45861657_45861665dup, NC_000020.10:g.45861656_45861665dup, NC_000020.10:g.45861654_45861665dup, NC_000020.10:g.45861665_45861666insTTTTTTTTTTTTTTTTTTT

Select item 149148085412.

rs1491480854 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:47252291 (GRCh38)
20:45881035 (GRCh37)
Canonical SPDI:: NC_000020.11:47252290:CA:
Gene:: ZMYND8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.03785/449 (ALFA)
-=0.00147/41 (TOMMO)
-=0.00165/72 (GnomAD)
HGVS:: NC_000020.11:g.47252291_47252292del, NC_000020.10:g.45881035_45881036del

Select item 149147612213.

rs1491476122 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAAA,CAAAA,CAAAAA,CAAAAAA,CAAAAAAA,CAAAAAAAA [Show Flanks]
Chromosome:: 20:47216495 (GRCh38)
20:-1 (GRCh37)
Canonical SPDI:: NC_000020.11:47216495::CAAA,NC_000020.11:47216495::CAAAA,NC_000020.11:47216495::CAAAAA,NC_000020.11:47216495::CAAAAAA,NC_000020.11:47216495::CAAAAAAA,NC_000020.11:47216495::CAAAAAAAA
Gene:: ZMYND8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.47216495_47216496insCAAA, NC_000020.11:g.47216495_47216496insCAAAA, NC_000020.11:g.47216495_47216496insCAAAAA, NC_000020.11:g.47216495_47216496insCAAAAAA, NC_000020.11:g.47216495_47216496insCAAAAAAA, NC_000020.11:g.47216495_47216496insCAAAAAAAA

Select item 149146083514.

rs1491460835 has merged into rs57088437 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 20:47267504 (GRCh38)
20:45896248 (GRCh37)
Canonical SPDI:: NC_000020.11:47267496:GGGGGGGGGG:GGGGGGG,NC_000020.11:47267496:GGGGGGGGGG:GGGGGGGG,NC_000020.11:47267496:GGGGGGGGGG:GGGGGGGGG,NC_000020.11:47267496:GGGGGGGGGG:GGGGGGGGGGG,NC_000020.11:47267496:GGGGGGGGGG:GGGGGGGGGGGG,NC_000020.11:47267496:GGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: ZMYND8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.192/106 (NorthernSweden)
-=0.2/8 (GENOME_DK)
G=0.3423/1714 (1000Genomes)
HGVS:: NC_000020.11:g.47267504_47267506del, NC_000020.11:g.47267505_47267506del, NC_000020.11:g.47267506del, NC_000020.11:g.47267506dup, NC_000020.11:g.47267505_47267506dup, NC_000020.11:g.47267502_47267506dup, NC_000020.10:g.45896248_45896250del, NC_000020.10:g.45896249_45896250del, NC_000020.10:g.45896250del, NC_000020.10:g.45896250dup, NC_000020.10:g.45896249_45896250dup, NC_000020.10:g.45896246_45896250dup

Select item 149145302415.

rs1491453024 has merged into rs111831182 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:47330372 (GRCh38)
20:45959116 (GRCh37)
Canonical SPDI:: NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47330361:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZMYND8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.47330372_47330381del, NC_000020.11:g.47330373_47330381del, NC_000020.11:g.47330375_47330381del, NC_000020.11:g.47330376_47330381del, NC_000020.11:g.47330379_47330381del, NC_000020.11:g.47330380_47330381del, NC_000020.11:g.47330381del, NC_000020.11:g.47330381dup, NC_000020.11:g.47330380_47330381dup, NC_000020.11:g.47330379_47330381dup, NC_000020.11:g.47330378_47330381dup, NC_000020.11:g.47330377_47330381dup, NC_000020.11:g.47330375_47330381dup, NC_000020.11:g.47330373_47330381dup, NC_000020.11:g.47330372_47330381dup, NC_000020.10:g.45959116_45959125del, NC_000020.10:g.45959117_45959125del, NC_000020.10:g.45959119_45959125del, NC_000020.10:g.45959120_45959125del, NC_000020.10:g.45959123_45959125del, NC_000020.10:g.45959124_45959125del, NC_000020.10:g.45959125del, NC_000020.10:g.45959125dup, NC_000020.10:g.45959124_45959125dup, NC_000020.10:g.45959123_45959125dup, NC_000020.10:g.45959122_45959125dup, NC_000020.10:g.45959121_45959125dup, NC_000020.10:g.45959119_45959125dup, NC_000020.10:g.45959117_45959125dup, NC_000020.10:g.45959116_45959125dup

Select item 149144801916.

rs1491448019 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:47216495 (GRCh38)
20:-1 (GRCh37)
Canonical SPDI:: NC_000020.11:47216494:CA:
Gene:: ZMYND8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.47216495_47216496del

Select item 149144361017.

rs1491443610 has merged into rs11411701 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:47288402 (GRCh38)
20:45917146 (GRCh37)
Canonical SPDI:: NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:47288392:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZMYND8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.47288402_47288410del, NC_000020.11:g.47288405_47288410del, NC_000020.11:g.47288407_47288410del, NC_000020.11:g.47288408_47288410del, NC_000020.11:g.47288409_47288410del, NC_000020.11:g.47288410del, NC_000020.11:g.47288410dup, NC_000020.11:g.47288409_47288410dup, NC_000020.11:g.47288408_47288410dup, NC_000020.11:g.47288407_47288410dup, NC_000020.11:g.47288406_47288410dup, NC_000020.11:g.47288405_47288410dup, NC_000020.11:g.47288404_47288410dup, NC_000020.11:g.47288403_47288410dup, NC_000020.11:g.47288401_47288410dup, NC_000020.11:g.47288397_47288410dup, NC_000020.10:g.45917146_45917154del, NC_000020.10:g.45917149_45917154del, NC_000020.10:g.45917151_45917154del, NC_000020.10:g.45917152_45917154del, NC_000020.10:g.45917153_45917154del, NC_000020.10:g.45917154del, NC_000020.10:g.45917154dup, NC_000020.10:g.45917153_45917154dup, NC_000020.10:g.45917152_45917154dup, NC_000020.10:g.45917151_45917154dup, NC_000020.10:g.45917150_45917154dup, NC_000020.10:g.45917149_45917154dup, NC_000020.10:g.45917148_45917154dup, NC_000020.10:g.45917147_45917154dup, NC_000020.10:g.45917145_45917154dup, NC_000020.10:g.45917141_45917154dup

Select item 149144140418.

rs1491441404 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 20:47270698 (GRCh38)
20:45899443 (GRCh37)
Canonical SPDI:: NC_000020.11:47270698:A:AGA
Gene:: ZMYND8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000020.11:g.47270699_47270700insGA, NC_000020.10:g.45899443_45899444insGA

Select item 149144122319.

rs1491441223 has merged into rs11333888 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG [Show Flanks]
Chromosome:: 20:47272065 (GRCh38)
20:45900809 (GRCh37)
Canonical SPDI:: NC_000020.11:47272056:GGGGGGGGGG:GGGGGGGG,NC_000020.11:47272056:GGGGGGGGGG:GGGGGGGGG,NC_000020.11:47272056:GGGGGGGGGG:GGGGGGGGGGG,NC_000020.11:47272056:GGGGGGGGGG:GGGGGGGGGGGG
Gene:: ZMYND8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0./0 (ALFA)
G=0.015516/4107 (TOPMED)
G=0.45/18 (GENOME_DK)
-=0.466009/1796 (ALSPAC)
-=0.475458/1763 (TWINSUK)
-=0.487692/2100 (Estonian)
G=0.49361/2472 (1000Genomes)
HGVS:: NC_000020.11:g.47272065_47272066del, NC_000020.11:g.47272066del, NC_000020.11:g.47272066dup, NC_000020.11:g.47272065_47272066dup, NC_000020.10:g.45900809_45900810del, NC_000020.10:g.45900810del, NC_000020.10:g.45900810dup, NC_000020.10:g.45900809_45900810dup

Select item 149142381620.

rs1491423816 has merged into rs1169707543 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:47310797 (GRCh38)
20:45939541 (GRCh37)
Canonical SPDI:: NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:47310786:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZMYND8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.47310797_47310807del, NC_000020.11:g.47310801_47310807del, NC_000020.11:g.47310802_47310807del, NC_000020.11:g.47310803_47310807del, NC_000020.11:g.47310804_47310807del, NC_000020.11:g.47310805_47310807del, NC_000020.11:g.47310806_47310807del, NC_000020.11:g.47310807del, NC_000020.11:g.47310807dup, NC_000020.11:g.47310806_47310807dup, NC_000020.11:g.47310805_47310807dup, NC_000020.11:g.47310804_47310807dup, NC_000020.11:g.47310803_47310807dup, NC_000020.11:g.47310789_47310807dup, NC_000020.11:g.47310787_47310807A[24]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.45939541_45939551del, NC_000020.10:g.45939545_45939551del, NC_000020.10:g.45939546_45939551del, NC_000020.10:g.45939547_45939551del, NC_000020.10:g.45939548_45939551del, NC_000020.10:g.45939549_45939551del, NC_000020.10:g.45939550_45939551del, NC_000020.10:g.45939551del, NC_000020.10:g.45939551dup, NC_000020.10:g.45939550_45939551dup, NC_000020.10:g.45939549_45939551dup, NC_000020.10:g.45939548_45939551dup, NC_000020.10:g.45939547_45939551dup, NC_000020.10:g.45939533_45939551dup, NC_000020.10:g.45939531_45939551A[24]GAAAAAAAAAAAAAAAAAAAAAAA[1]

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