SNP Links for Gene (Select 55666) - SNP

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Select item 14915812191.

rs1491581219 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:81633333 (GRCh38)
17:79600359 (GRCh37)
Canonical SPDI:: NC_000017.11:81633332:GA:
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000023/6 (TOPMED)
-=0.000625/3 (1000Genomes)
HGVS:: NC_000017.11:g.81633333_81633334del, NC_000017.10:g.79600359_79600360del

Select item 14915797562.

rs1491579756 has merged into rs34386430 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 17:81634601 (GRCh38)
17:79601627 (GRCh37)
Canonical SPDI:: NC_000017.11:81634589:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:81634589:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:81634589:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:81634589:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:81634589:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:81634589:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:81634589:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000017.11:g.81634601_81634605del, NC_000017.11:g.81634602_81634605del, NC_000017.11:g.81634603_81634605del, NC_000017.11:g.81634604_81634605del, NC_000017.11:g.81634605del, NC_000017.11:g.81634605dup, NC_000017.11:g.81634604_81634605dup, NC_000017.10:g.79601627_79601631del, NC_000017.10:g.79601628_79601631del, NC_000017.10:g.79601629_79601631del, NC_000017.10:g.79601630_79601631del, NC_000017.10:g.79601631del, NC_000017.10:g.79601631dup, NC_000017.10:g.79601630_79601631dup

Select item 14915777683.

rs1491577768 has merged into rs1281867298 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT [Show Flanks]
Chromosome:: 17:81602086 (GRCh38)
17:79569112 (GRCh37)
Canonical SPDI:: NC_000017.11:81602081:GTGTGTGT:GTGT,NC_000017.11:81602081:GTGTGTGT:GTGTGT
Gene:: NPLOC4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGT=0./0 (ALFA)
-=0.00021/4 (TOMMO)
HGVS:: NC_000017.11:g.81602082GT[2], NC_000017.11:g.81602082GT[3], NC_000017.10:g.79569108GT[2], NC_000017.10:g.79569108GT[3]

Select item 14915477864.

rs1491547786 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:81574875 (GRCh38)
17:79541902 (GRCh37)
Canonical SPDI:: NC_000017.11:81574875::C
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000049/6 (GnomAD)
HGVS:: NC_000017.11:g.81574875_81574876insC, NC_000017.10:g.79541901_79541902insC

Select item 14915233735.

rs1491523373 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:81559727 (GRCh38)
17:79526753 (GRCh37)
Canonical SPDI:: NC_000017.11:81559726:CT:
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.000036/4 (GnomAD)
-=0.000107/2 (TOMMO)
HGVS:: NC_000017.11:g.81559727_81559728del, NC_000017.10:g.79526753_79526754del

Select item 14915157876.

rs1491515787 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:81572792 (GRCh38)
17:79539819 (GRCh37)
Canonical SPDI:: NC_000017.11:81572792:A:AA
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.81572793dup, NC_000017.10:g.79539819dup

Select item 14915155807.

rs1491515580 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:81559749 (GRCh38)
17:79526775 (GRCh37)
Canonical SPDI:: NC_000017.11:81559747:TCT:T
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.81559749_81559750del, NC_000017.10:g.79526775_79526776del

Select item 14915044218.

rs1491504421 has merged into rs113450373 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:81595542 (GRCh38)
17:79562568 (GRCh37)
Canonical SPDI:: NC_000017.11:81595534:TTTTTTTTTT:TTTTTTT,NC_000017.11:81595534:TTTTTTTTTT:TTTTTTTT,NC_000017.11:81595534:TTTTTTTTTT:TTTTTTTTT,NC_000017.11:81595534:TTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:81595534:TTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:81595534:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:81595534:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:81595534:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:81595534:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:81595534:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:81595534:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:81595534:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.81595542_81595544del, NC_000017.11:g.81595543_81595544del, NC_000017.11:g.81595544del, NC_000017.11:g.81595544dup, NC_000017.11:g.81595543_81595544dup, NC_000017.11:g.81595542_81595544dup, NC_000017.11:g.81595541_81595544dup, NC_000017.11:g.81595540_81595544dup, NC_000017.11:g.81595539_81595544dup, NC_000017.11:g.81595544_81595545insTTTTTTTTTTT, NC_000017.11:g.81595544_81595545insTTTTTTTTTTTTTT, NC_000017.11:g.81595544_81595545insTTTTTTTTTTTTTTT, NC_000017.10:g.79562568_79562570del, NC_000017.10:g.79562569_79562570del, NC_000017.10:g.79562570del, NC_000017.10:g.79562570dup, NC_000017.10:g.79562569_79562570dup, NC_000017.10:g.79562568_79562570dup, NC_000017.10:g.79562567_79562570dup, NC_000017.10:g.79562566_79562570dup, NC_000017.10:g.79562565_79562570dup, NC_000017.10:g.79562570_79562571insTTTTTTTTTTT, NC_000017.10:g.79562570_79562571insTTTTTTTTTTTTTT, NC_000017.10:g.79562570_79562571insTTTTTTTTTTTTTTT

Select item 14915021169.

rs1491502116 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:81599285 (GRCh38)
17:79566311 (GRCh37)
Canonical SPDI:: NC_000017.11:81599284:CA:
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.81599285_81599286del, NC_000017.10:g.79566311_79566312del

Select item 149147756710.

rs1491477567 has merged into rs11401963 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:81611967 (GRCh38)
17:79578993 (GRCh37)
Canonical SPDI:: NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81611959:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NPLOC4 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.1236/619 (1000Genomes)
HGVS:: NC_000017.11:g.81611967_81611976del, NC_000017.11:g.81611970_81611976del, NC_000017.11:g.81611972_81611976del, NC_000017.11:g.81611973_81611976del, NC_000017.11:g.81611974_81611976del, NC_000017.11:g.81611975_81611976del, NC_000017.11:g.81611976del, NC_000017.11:g.81611976dup, NC_000017.11:g.81611975_81611976dup, NC_000017.11:g.81611974_81611976dup, NC_000017.11:g.81611973_81611976dup, NC_000017.11:g.81611972_81611976dup, NC_000017.11:g.81611970_81611976dup, NC_000017.10:g.79578993_79579002del, NC_000017.10:g.79578996_79579002del, NC_000017.10:g.79578998_79579002del, NC_000017.10:g.79578999_79579002del, NC_000017.10:g.79579000_79579002del, NC_000017.10:g.79579001_79579002del, NC_000017.10:g.79579002del, NC_000017.10:g.79579002dup, NC_000017.10:g.79579001_79579002dup, NC_000017.10:g.79579000_79579002dup, NC_000017.10:g.79578999_79579002dup, NC_000017.10:g.79578998_79579002dup, NC_000017.10:g.79578996_79579002dup

Select item 149143462611.

rs1491434626 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:81611959 (GRCh38)
17:79578985 (GRCh37)
Canonical SPDI:: NC_000017.11:81611958:CA:
Gene:: NPLOC4 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000017.11:g.81611959_81611960del, NC_000017.10:g.79578985_79578986del

Select item 149140928512.

rs1491409285 has merged into rs71166157 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 17:81574888 (GRCh38)
17:79541914 (GRCh37)
Canonical SPDI:: NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACA,NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACACA,NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACACACA,NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACACACACA,NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000017.11:81574876:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
-=0.0728/280 (1000Genomes)
HGVS:: NC_000017.11:g.81574878CA[5], NC_000017.11:g.81574878CA[6], NC_000017.11:g.81574878CA[7], NC_000017.11:g.81574878CA[8], NC_000017.11:g.81574878CA[9], NC_000017.11:g.81574878CA[10], NC_000017.11:g.81574878CA[11], NC_000017.11:g.81574878CA[13], NC_000017.11:g.81574878CA[14], NC_000017.11:g.81574878CA[15], NC_000017.11:g.81574878CA[16], NC_000017.11:g.81574878CA[17], NC_000017.11:g.81574878CA[18], NC_000017.10:g.79541904CA[5], NC_000017.10:g.79541904CA[6], NC_000017.10:g.79541904CA[7], NC_000017.10:g.79541904CA[8], NC_000017.10:g.79541904CA[9], NC_000017.10:g.79541904CA[10], NC_000017.10:g.79541904CA[11], NC_000017.10:g.79541904CA[13], NC_000017.10:g.79541904CA[14], NC_000017.10:g.79541904CA[15], NC_000017.10:g.79541904CA[16], NC_000017.10:g.79541904CA[17], NC_000017.10:g.79541904CA[18]

Select item 149138683913.

rs1491386839 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:81563405 (GRCh38)
17:79530432 (GRCh37)
Canonical SPDI:: NC_000017.11:81563405:C:CC
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000017.11:g.81563406dup, NC_000017.10:g.79530432dup

Select item 149137330314.

rs1491373303 has merged into rs869125822 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:81623809 (GRCh38)
17:79590835 (GRCh37)
Canonical SPDI:: NC_000017.11:81623807:ACA:A
Gene:: NPLOC4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000273/34 (GnomAD)
-=0.000319/5 (TOMMO)
-=0.017505/32 (Korea1K)
HGVS:: NC_000017.11:g.81623809_81623810del, NC_000017.10:g.79590835_79590836del

Select item 149135582015.

rs1491355820 has merged into rs11303585 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:81568090 (GRCh38)
17:79535116 (GRCh37)
Canonical SPDI:: NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81568080:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NPLOC4 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.2078/801 (ALSPAC)
HGVS:: NC_000017.11:g.81568090_81568105del, NC_000017.11:g.81568091_81568105del, NC_000017.11:g.81568092_81568105del, NC_000017.11:g.81568093_81568105del, NC_000017.11:g.81568094_81568105del, NC_000017.11:g.81568095_81568105del, NC_000017.11:g.81568096_81568105del, NC_000017.11:g.81568097_81568105del, NC_000017.11:g.81568098_81568105del, NC_000017.11:g.81568099_81568105del, NC_000017.11:g.81568101_81568105del, NC_000017.11:g.81568102_81568105del, NC_000017.11:g.81568103_81568105del, NC_000017.11:g.81568104_81568105del, NC_000017.11:g.81568105del, NC_000017.11:g.81568105dup, NC_000017.11:g.81568104_81568105dup, NC_000017.11:g.81568103_81568105dup, NC_000017.11:g.81568102_81568105dup, NC_000017.10:g.79535116_79535131del, NC_000017.10:g.79535117_79535131del, NC_000017.10:g.79535118_79535131del, NC_000017.10:g.79535119_79535131del, NC_000017.10:g.79535120_79535131del, NC_000017.10:g.79535121_79535131del, NC_000017.10:g.79535122_79535131del, NC_000017.10:g.79535123_79535131del, NC_000017.10:g.79535124_79535131del, NC_000017.10:g.79535125_79535131del, NC_000017.10:g.79535127_79535131del, NC_000017.10:g.79535128_79535131del, NC_000017.10:g.79535129_79535131del, NC_000017.10:g.79535130_79535131del, NC_000017.10:g.79535131del, NC_000017.10:g.79535131dup, NC_000017.10:g.79535130_79535131dup, NC_000017.10:g.79535129_79535131dup, NC_000017.10:g.79535128_79535131dup

Select item 149133005716.

rs1491330057 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:81595544 (GRCh38)
17:79562571 (GRCh37)
Canonical SPDI:: NC_000017.11:81595544:C:CC
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.81595545dup, NC_000017.10:g.79562571dup

Select item 149131431817.

rs1491314318 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:81572794 (GRCh38)
17:79539820 (GRCh37)
Canonical SPDI:: NC_000017.11:81572791:CACA:CA
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000094/25 (TOPMED)
-=0.0001/14 (GnomAD)
HGVS:: NC_000017.11:g.81572792CA[1], NC_000017.10:g.79539818CA[1]

Select item 149129925018.

rs1491299250 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:81574876 (GRCh38)
17:79541902 (GRCh37)
Canonical SPDI:: NC_000017.11:81574874:AAA:A
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000025/3 (GnomAD)
HGVS:: NC_000017.11:g.81574876_81574877del, NC_000017.10:g.79541902_79541903del

Select item 149128803819.

rs1491288038 has merged into rs10534151 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 17:81599293 (GRCh38)
17:79566319 (GRCh37)
Canonical SPDI:: NC_000017.11:81599285:AAAAAAAAAAAA:AAAAAAA,NC_000017.11:81599285:AAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:81599285:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:81599285:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:81599285:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.20712/768 (TWINSUK)
-=0.20784/801 (ALSPAC)
-=0.21585/1081 (1000Genomes)
HGVS:: NC_000017.11:g.81599293_81599297del, NC_000017.11:g.81599296_81599297del, NC_000017.11:g.81599297del, NC_000017.11:g.81599297dup, NC_000017.11:g.81599296_81599297dup, NC_000017.10:g.79566319_79566323del, NC_000017.10:g.79566322_79566323del, NC_000017.10:g.79566323del, NC_000017.10:g.79566323dup, NC_000017.10:g.79566322_79566323dup

Select item 149127583520.

rs1491275835 has merged into rs745792713 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 17:81602932 (GRCh38)
17:79569958 (GRCh37)
Canonical SPDI:: NC_000017.11:81602922:ACACACACACA:ACACACACA,NC_000017.11:81602922:ACACACACACA:ACACACACACACA
Gene:: NPLOC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
-=0.0661/121 (Korea1K)
-=0.09/54 (NorthernSweden)
-=0.125/5 (GENOME_DK)
-=0.1363/136 (GoNL)
HGVS:: NC_000017.11:g.81602924CA[4], NC_000017.11:g.81602924CA[6], NC_000017.10:g.79569950CA[4], NC_000017.10:g.79569950CA[6]

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