SNP Links for Gene (Select 101926987) - SNP

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Select item 14915793691.

rs1491579369 [Homo sapiens]

Variant type:: SNV:
Alleles:: CT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14915688842.

rs1491568884 has merged into rs1161880479 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 20:36511888 (GRCh38)
20:35140291 (GRCh37)
Canonical SPDI:: NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:36511874:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: DLGAP4 (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.02574/14 (NorthernSweden)
HGVS:: NC_000020.11:g.36511888_36511891del, NC_000020.11:g.36511889_36511891del, NC_000020.11:g.36511890_36511891del, NC_000020.11:g.36511891del, NC_000020.11:g.36511891dup, NC_000020.11:g.36511890_36511891dup, NC_000020.11:g.36511889_36511891dup, NC_000020.11:g.36511888_36511891dup, NC_000020.10:g.35140291_35140294del, NC_000020.10:g.35140292_35140294del, NC_000020.10:g.35140293_35140294del, NC_000020.10:g.35140294del, NC_000020.10:g.35140294dup, NC_000020.10:g.35140293_35140294dup, NC_000020.10:g.35140292_35140294dup, NC_000020.10:g.35140291_35140294dup

Select item 14915576643.

rs1491557664 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCAA [Show Flanks]
Chromosome:: 20:36524576 (GRCh38)
20:35152980 (GRCh37)
Canonical SPDI:: NC_000020.11:36524576:AAGTCAA:AAGTCAAGTCAA
Gene:: DLGAP4 (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAGTCAAGTCAA=0./0 (ALFA)
AAGTC=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.36524579_36524583dup, NC_000020.10:g.35152982_35152986dup

Select item 14915467774.

rs1491546777 has merged into rs1198703093 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCGTGCGTG>-,TGCGTGCGTGTGCGTGCGTG [Show Flanks]
Chromosome:: 20:36519441 (GRCh38)
20:35147844 (GRCh37)
Canonical SPDI:: NC_000020.11:36519427:GTGTGCGTGCGTGTGCGTGCGTG:GTGTGCGTGCGTG,NC_000020.11:36519427:GTGTGCGTGCGTGTGCGTGCGTG:GTGTGCGTGCGTGTGCGTGCGTGTGCGTGCGTG
Gene:: DLGAP4 (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGCGTGCGTGTGCGTGCGTGTGCGTGCGTG=0./0 (ALFA)
-=0.00006/16 (TOPMED)
HGVS:: NC_000020.11:g.36519431TGCGTGCGTG[1], NC_000020.11:g.36519431TGCGTGCGTG[3], NC_000020.10:g.35147834TGCGTGCGTG[1], NC_000020.10:g.35147834TGCGTGCGTG[3]

Select item 14915408965.

rs1491540896 has merged into rs1237948383 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 20:36574449 (GRCh38)
20:35202852 (GRCh37)
Canonical SPDI:: NC_000020.11:36574439:GGGGGGGGGGGGG:GGGGGGGGG,NC_000020.11:36574439:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000020.11:36574439:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000020.11:36574439:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000020.11:36574439:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000020.11:36574439:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000020.11:36574439:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000020.11:36574439:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000020.11:36574439:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000020.11:36574439:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000020.11:36574439:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000020.11:36574439:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: TGIF2 (Varview), TGIF2-RAB5IF (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000020.11:g.36574449_36574452del, NC_000020.11:g.36574450_36574452del, NC_000020.11:g.36574451_36574452del, NC_000020.11:g.36574452del, NC_000020.11:g.36574452dup, NC_000020.11:g.36574451_36574452dup, NC_000020.11:g.36574450_36574452dup, NC_000020.11:g.36574440_36574452dup, NC_000020.11:g.36574452_36574453insGGGGGGGGGGGGGG, NC_000020.11:g.36574452_36574453insGGGGGGGGGGGGGGGGG, NC_000020.11:g.36574452_36574453insGGGGGGGGGGGGGGGGGG, NC_000020.11:g.36574452_36574453insGGGGGGGGGGGGGGGGGGG, NC_000020.10:g.35202852_35202855del, NC_000020.10:g.35202853_35202855del, NC_000020.10:g.35202854_35202855del, NC_000020.10:g.35202855del, NC_000020.10:g.35202855dup, NC_000020.10:g.35202854_35202855dup, NC_000020.10:g.35202853_35202855dup, NC_000020.10:g.35202843_35202855dup, NC_000020.10:g.35202855_35202856insGGGGGGGGGGGGGG, NC_000020.10:g.35202855_35202856insGGGGGGGGGGGGGGGGG, NC_000020.10:g.35202855_35202856insGGGGGGGGGGGGGGGGGG, NC_000020.10:g.35202855_35202856insGGGGGGGGGGGGGGGGGGG

Select item 14915303686.

rs1491530368 has merged into rs374525206 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:36536421 (GRCh38)
20:35164824 (GRCh37)
Canonical SPDI:: NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36536409:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DLGAP4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.0933/467 (1000Genomes)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000020.11:g.36536421_36536423del, NC_000020.11:g.36536422_36536423del, NC_000020.11:g.36536423del, NC_000020.11:g.36536423dup, NC_000020.11:g.36536422_36536423dup, NC_000020.11:g.36536421_36536423dup, NC_000020.11:g.36536420_36536423dup, NC_000020.11:g.36536419_36536423dup, NC_000020.11:g.36536418_36536423dup, NC_000020.11:g.36536417_36536423dup, NC_000020.11:g.36536416_36536423dup, NC_000020.11:g.36536415_36536423dup, NC_000020.11:g.36536414_36536423dup, NC_000020.11:g.36536413_36536423dup, NC_000020.11:g.36536412_36536423dup, NC_000020.11:g.36536411_36536423dup, NC_000020.11:g.36536410_36536423dup, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.36536423_36536424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164824_35164826del, NC_000020.10:g.35164825_35164826del, NC_000020.10:g.35164826del, NC_000020.10:g.35164826dup, NC_000020.10:g.35164825_35164826dup, NC_000020.10:g.35164824_35164826dup, NC_000020.10:g.35164823_35164826dup, NC_000020.10:g.35164822_35164826dup, NC_000020.10:g.35164821_35164826dup, NC_000020.10:g.35164820_35164826dup, NC_000020.10:g.35164819_35164826dup, NC_000020.10:g.35164818_35164826dup, NC_000020.10:g.35164817_35164826dup, NC_000020.10:g.35164816_35164826dup, NC_000020.10:g.35164815_35164826dup, NC_000020.10:g.35164814_35164826dup, NC_000020.10:g.35164813_35164826dup, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35164826_35164827insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914854857.

rs1491485485 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 20:36574439 (GRCh38)
20:35202842 (GRCh37)
Canonical SPDI:: NC_000020.11:36574438:TG:
Gene:: TGIF2 (Varview), TGIF2-RAB5IF (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.36574439_36574440del, NC_000020.10:g.35202842_35202843del

Select item 14914622678.

rs1491462267 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->A
Chromosome:: no mapping
Canonical SPDI:

Select item 14914605719.

rs1491460571 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 20:36511875 (GRCh38)
20:35140279 (GRCh37)
Canonical SPDI:: NC_000020.11:36511875:A:ACA
Gene:: DLGAP4 (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.00001/1 (GnomAD)
AC=0.00046/8 (TOMMO)
HGVS:: NC_000020.11:g.36511876_36511877insCA, NC_000020.10:g.35140279_35140280insCA

Select item 149142063110.

rs1491420631 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,TG [Show Flanks]
Chromosome:: 20:36574439 (GRCh38)
20:35202843 (GRCh37)
Canonical SPDI:: NC_000020.11:36574439::C,NC_000020.11:36574439::TG
Gene:: TGIF2 (Varview), TGIF2-RAB5IF (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
HGVS:: NC_000020.11:g.36574439_36574440insC, NC_000020.11:g.36574439_36574440insTG, NC_000020.10:g.35202842_35202843insC, NC_000020.10:g.35202842_35202843insTG

Select item 149141258011.

rs1491412580 has merged into rs58243787 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 20:36519965 (GRCh38)
20:35148368 (GRCh37)
Canonical SPDI:: NC_000020.11:36519957:TTTTTTTTTTTTT:TTTTTTT,NC_000020.11:36519957:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:36519957:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:36519957:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: DLGAP4 (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.36519965_36519970del, NC_000020.11:g.36519970del, NC_000020.11:g.36519970dup, NC_000020.11:g.36519969_36519970dup, NC_000020.10:g.35148368_35148373del, NC_000020.10:g.35148373del, NC_000020.10:g.35148373dup, NC_000020.10:g.35148372_35148373dup

Select item 149137789912.

rs1491377899 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTAAAAATAT [Show Flanks]
Chromosome:: 20:36528099 (GRCh38)
20:35156503 (GRCh37)
Canonical SPDI:: NC_000020.11:36528099:TGTGTGTAAAAATAT:TGTGTGTAAAAATATGTGTGTAAAAATAT
Gene:: DLGAP4 (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTAAAAATATGTGTGTAAAAATAT=0./0 (ALFA)
TGTGTGTAAAAATA=0.000007/1 (GnomAD)
TGTGTGTAAAAATA=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.36528101_36528114dup, NC_000020.10:g.35156504_35156517dup, NM_014902.6:c.*1070_*1083dup, NM_014902.5:c.*1070_*1083dup, NM_014902.4:c.*1070_*1083dup, NM_183006.4:c.*1070_*1083dup, NM_183006.3:c.*1070_*1083dup, NM_183006.2:c.*1070_*1083dup, NM_001042486.4:c.*1070_*1083dup, NM_001042486.3:c.*1070_*1083dup, NM_001042486.2:c.*1070_*1083dup, NM_001365621.2:c.*1070_*1083dup, NM_001365621.1:c.*1070_*1083dup, NM_001388274.1:c.*1070_*1083dup, NM_001388271.1:c.*1070_*1083dup, NM_001388278.1:c.*1070_*1083dup, NM_001388268.1:c.*1070_*1083dup, NM_001388265.1:c.*1070_*1083dup, NM_001388262.1:c.*1070_*1083dup, NM_001388260.1:c.*1070_*1083dup, NM_001388275.1:c.*1070_*1083dup, NM_001388277.1:c.*1070_*1083dup, NM_001388257.1:c.*1070_*1083dup

Select item 149136602813.

rs1491366028 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGTC [Show Flanks]
Chromosome:: 20:36561162 (GRCh38)
20:35189566 (GRCh37)
Canonical SPDI:: NC_000020.11:36561162:CCTGTC:CCTGTCCTGTC
Gene:: DLGAP4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTGTCCTGTC=0./0 (ALFA)
CCTGT=0.000004/1 (TOPMED)
CCTGT=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.36561164_36561168dup, NC_000020.10:g.35189567_35189571dup

Select item 149134694214.

rs1491346942 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:36574438 (GRCh38)
20:35202842 (GRCh37)
Canonical SPDI:: NC_000020.11:36574438:T:TT
Gene:: TGIF2 (Varview), TGIF2-RAB5IF (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.00013/2 (TOMMO)
HGVS:: NC_000020.11:g.36574439dup, NC_000020.10:g.35202842dup

Select item 149134105515.

rs1491341055 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:36512047 (GRCh38)
20:35140450 (GRCh37)
Canonical SPDI:: NC_000020.11:36512046:AT:
Gene:: DLGAP4 (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.36512047_36512048del, NC_000020.10:g.35140450_35140451del

Select item 149132187516.

rs1491321875 has merged into rs72011781 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:36512061 (GRCh38)
20:35140464 (GRCh37)
Canonical SPDI:: NC_000020.11:36512047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:36512047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:36512047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:36512047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:36512047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:36512047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:36512047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:36512047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:36512047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36512047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36512047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:36512047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DLGAP4 (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.36512061_36512068del, NC_000020.11:g.36512062_36512068del, NC_000020.11:g.36512063_36512068del, NC_000020.11:g.36512064_36512068del, NC_000020.11:g.36512065_36512068del, NC_000020.11:g.36512066_36512068del, NC_000020.11:g.36512067_36512068del, NC_000020.11:g.36512068del, NC_000020.11:g.36512068dup, NC_000020.11:g.36512067_36512068dup, NC_000020.11:g.36512066_36512068dup, NC_000020.11:g.36512065_36512068dup, NC_000020.10:g.35140464_35140471del, NC_000020.10:g.35140465_35140471del, NC_000020.10:g.35140466_35140471del, NC_000020.10:g.35140467_35140471del, NC_000020.10:g.35140468_35140471del, NC_000020.10:g.35140469_35140471del, NC_000020.10:g.35140470_35140471del, NC_000020.10:g.35140471del, NC_000020.10:g.35140471dup, NC_000020.10:g.35140470_35140471dup, NC_000020.10:g.35140469_35140471dup, NC_000020.10:g.35140468_35140471dup

Select item 149126101617.

rs1491261016 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:36559559 (GRCh38)
20:35187963 (GRCh37)
Canonical SPDI:: NC_000020.11:36559559:T:TT
Gene:: DLGAP4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.36559560dup, NC_000020.10:g.35187963dup

Select item 149125896818.

rs1491258968 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 20:36561163 (GRCh38)
20:35189566 (GRCh37)
Canonical SPDI:: NC_000020.11:36561161:CCC:C
Gene:: DLGAP4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000029/4 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.36561163_36561164del, NC_000020.10:g.35189566_35189567del

Select item 149124684619.

rs1491246846 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CC,CCC,GA,GC,T [Show Flanks]
Chromosome:: 20:36528445 (GRCh38)
20:35156849 (GRCh37)
Canonical SPDI:: NC_000020.11:36528445::C,NC_000020.11:36528445::CC,NC_000020.11:36528445::CCC,NC_000020.11:36528445::GA,NC_000020.11:36528445::GC,NC_000020.11:36528445::T
Gene:: DLGAP4 (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000020.11:g.36528445_36528446insC, NC_000020.11:g.36528445_36528446insCC, NC_000020.11:g.36528445_36528446insCCC, NC_000020.11:g.36528445_36528446insGA, NC_000020.11:g.36528445_36528446insGC, NC_000020.11:g.36528445_36528446insT, NC_000020.10:g.35156848_35156849insC, NC_000020.10:g.35156848_35156849insCC, NC_000020.10:g.35156848_35156849insCCC, NC_000020.10:g.35156848_35156849insGA, NC_000020.10:g.35156848_35156849insGC, NC_000020.10:g.35156848_35156849insT, NM_014902.6:c.*1414_*1415insC, NM_014902.6:c.*1414_*1415insCC, NM_014902.6:c.*1414_*1415insCCC, NM_014902.6:c.*1414_*1415insGA, NM_014902.6:c.*1414_*1415insGC, NM_014902.6:c.*1414_*1415insT, NM_014902.5:c.*1414_*1415insC, NM_014902.5:c.*1414_*1415insCC, NM_014902.5:c.*1414_*1415insCCC, NM_014902.5:c.*1414_*1415insGA, NM_014902.5:c.*1414_*1415insGC, NM_014902.5:c.*1414_*1415insT, NM_014902.4:c.*1414_*1415insC, NM_014902.4:c.*1414_*1415insCC, NM_014902.4:c.*1414_*1415insCCC, NM_014902.4:c.*1414_*1415insGA, NM_014902.4:c.*1414_*1415insGC, NM_014902.4:c.*1414_*1415insT, NM_183006.4:c.*1414_*1415insC, NM_183006.4:c.*1414_*1415insCC, NM_183006.4:c.*1414_*1415insCCC, NM_183006.4:c.*1414_*1415insGA, NM_183006.4:c.*1414_*1415insGC, NM_183006.4:c.*1414_*1415insT, NM_183006.3:c.*1414_*1415insC, NM_183006.3:c.*1414_*1415insCC, NM_183006.3:c.*1414_*1415insCCC, NM_183006.3:c.*1414_*1415insGA, NM_183006.3:c.*1414_*1415insGC, NM_183006.3:c.*1414_*1415insT, NM_183006.2:c.*1414_*1415insC, NM_183006.2:c.*1414_*1415insCC, NM_183006.2:c.*1414_*1415insCCC, NM_183006.2:c.*1414_*1415insGA, NM_183006.2:c.*1414_*1415insGC, NM_183006.2:c.*1414_*1415insT, NM_001042486.4:c.*1414_*1415insC, NM_001042486.4:c.*1414_*1415insCC, NM_001042486.4:c.*1414_*1415insCCC, NM_001042486.4:c.*1414_*1415insGA, NM_001042486.4:c.*1414_*1415insGC, NM_001042486.4:c.*1414_*1415insT, NM_001042486.3:c.*1414_*1415insC, NM_001042486.3:c.*1414_*1415insCC, NM_001042486.3:c.*1414_*1415insCCC, NM_001042486.3:c.*1414_*1415insGA, NM_001042486.3:c.*1414_*1415insGC, NM_001042486.3:c.*1414_*1415insT, NM_001042486.2:c.*1414_*1415insC, NM_001042486.2:c.*1414_*1415insCC, NM_001042486.2:c.*1414_*1415insCCC, NM_001042486.2:c.*1414_*1415insGA, NM_001042486.2:c.*1414_*1415insGC, NM_001042486.2:c.*1414_*1415insT, NM_001365621.2:c.*1414_*1415insC, NM_001365621.2:c.*1414_*1415insCC, NM_001365621.2:c.*1414_*1415insCCC, NM_001365621.2:c.*1414_*1415insGA, NM_001365621.2:c.*1414_*1415insGC, NM_001365621.2:c.*1414_*1415insT, NM_001365621.1:c.*1414_*1415insC, NM_001365621.1:c.*1414_*1415insCC, NM_001365621.1:c.*1414_*1415insCCC, NM_001365621.1:c.*1414_*1415insGA, NM_001365621.1:c.*1414_*1415insGC, NM_001365621.1:c.*1414_*1415insT, NM_001388274.1:c.*1414_*1415insC, NM_001388274.1:c.*1414_*1415insCC, NM_001388274.1:c.*1414_*1415insCCC, NM_001388274.1:c.*1414_*1415insGA, NM_001388274.1:c.*1414_*1415insGC, NM_001388274.1:c.*1414_*1415insT, NM_001388271.1:c.*1414_*1415insC, NM_001388271.1:c.*1414_*1415insCC, NM_001388271.1:c.*1414_*1415insCCC, NM_001388271.1:c.*1414_*1415insGA, NM_001388271.1:c.*1414_*1415insGC, NM_001388271.1:c.*1414_*1415insT, NM_001388278.1:c.*1414_*1415insC, NM_001388278.1:c.*1414_*1415insCC, NM_001388278.1:c.*1414_*1415insCCC, NM_001388278.1:c.*1414_*1415insGA, NM_001388278.1:c.*1414_*1415insGC, NM_001388278.1:c.*1414_*1415insT, NM_001388268.1:c.*1414_*1415insC, NM_001388268.1:c.*1414_*1415insCC, NM_001388268.1:c.*1414_*1415insCCC, NM_001388268.1:c.*1414_*1415insGA, NM_001388268.1:c.*1414_*1415insGC, NM_001388268.1:c.*1414_*1415insT, NM_001388265.1:c.*1414_*1415insC, NM_001388265.1:c.*1414_*1415insCC, NM_001388265.1:c.*1414_*1415insCCC, NM_001388265.1:c.*1414_*1415insGA, NM_001388265.1:c.*1414_*1415insGC, NM_001388265.1:c.*1414_*1415insT, NM_001388262.1:c.*1414_*1415insC, NM_001388262.1:c.*1414_*1415insCC, NM_001388262.1:c.*1414_*1415insCCC, NM_001388262.1:c.*1414_*1415insGA, NM_001388262.1:c.*1414_*1415insGC, NM_001388262.1:c.*1414_*1415insT, NM_001388260.1:c.*1414_*1415insC, NM_001388260.1:c.*1414_*1415insCC, NM_001388260.1:c.*1414_*1415insCCC, NM_001388260.1:c.*1414_*1415insGA, NM_001388260.1:c.*1414_*1415insGC, NM_001388260.1:c.*1414_*1415insT, NM_001388275.1:c.*1414_*1415insC, NM_001388275.1:c.*1414_*1415insCC, NM_001388275.1:c.*1414_*1415insCCC, NM_001388275.1:c.*1414_*1415insGA, NM_001388275.1:c.*1414_*1415insGC, NM_001388275.1:c.*1414_*1415insT, NM_001388277.1:c.*1414_*1415insC, NM_001388277.1:c.*1414_*1415insCC, NM_001388277.1:c.*1414_*1415insCCC, NM_001388277.1:c.*1414_*1415insGA, NM_001388277.1:c.*1414_*1415insGC, NM_001388277.1:c.*1414_*1415insT, NM_001388257.1:c.*1414_*1415insC, NM_001388257.1:c.*1414_*1415insCC, NM_001388257.1:c.*1414_*1415insCCC, NM_001388257.1:c.*1414_*1415insGA, NM_001388257.1:c.*1414_*1415insGC, NM_001388257.1:c.*1414_*1415insT

Select item 149120456920.

rs1491204569 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 20:36528105 (GRCh38)
20:35156508 (GRCh37)
Canonical SPDI:: NC_000020.11:36528098:GTGTGTGT:GTGTGT
Gene:: DLGAP4 (Varview), DLGAP4-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.36528099GT[3], NC_000020.10:g.35156502GT[3], NM_014902.6:c.*1068GT[3], NM_014902.5:c.*1068GT[3], NM_014902.4:c.*1068GT[3], NM_183006.4:c.*1068GT[3], NM_183006.3:c.*1068GT[3], NM_183006.2:c.*1068GT[3], NM_001042486.4:c.*1068GT[3], NM_001042486.3:c.*1068GT[3], NM_001042486.2:c.*1068GT[3], NM_001365621.2:c.*1068GT[3], NM_001365621.1:c.*1068GT[3], NM_001388274.1:c.*1068GT[3], NM_001388271.1:c.*1068GT[3], NM_001388278.1:c.*1068GT[3], NM_001388268.1:c.*1068GT[3], NM_001388265.1:c.*1068GT[3], NM_001388262.1:c.*1068GT[3], NM_001388260.1:c.*1068GT[3], NM_001388275.1:c.*1068GT[3], NM_001388277.1:c.*1068GT[3], NM_001388257.1:c.*1068GT[3]

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