SNP Links for Gene (Select 8328) - SNP

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Select item 14915886321.

rs1491588632 has merged into rs71376675 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:132964753 (GRCh38)
9:135840140 (GRCh37)
Canonical SPDI:: NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132964743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GFI1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTTTTTT=0.05/2 (GENOME_DK)
TTTTTTTTTTT=0.1801/902 (1000Genomes)
HGVS:: NC_000009.12:g.132964753_132964771del, NC_000009.12:g.132964755_132964771del, NC_000009.12:g.132964756_132964771del, NC_000009.12:g.132964757_132964771del, NC_000009.12:g.132964758_132964771del, NC_000009.12:g.132964759_132964771del, NC_000009.12:g.132964760_132964771del, NC_000009.12:g.132964761_132964771del, NC_000009.12:g.132964762_132964771del, NC_000009.12:g.132964763_132964771del, NC_000009.12:g.132964764_132964771del, NC_000009.12:g.132964765_132964771del, NC_000009.12:g.132964766_132964771del, NC_000009.12:g.132964767_132964771del, NC_000009.12:g.132964768_132964771del, NC_000009.12:g.132964769_132964771del, NC_000009.12:g.132964770_132964771del, NC_000009.12:g.132964771del, NC_000009.12:g.132964771dup, NC_000009.12:g.132964770_132964771dup, NC_000009.12:g.132964769_132964771dup, NC_000009.12:g.132964768_132964771dup, NC_000009.12:g.132964767_132964771dup, NC_000009.12:g.132964766_132964771dup, NC_000009.12:g.132964765_132964771dup, NC_000009.11:g.135840140_135840158del, NC_000009.11:g.135840142_135840158del, NC_000009.11:g.135840143_135840158del, NC_000009.11:g.135840144_135840158del, NC_000009.11:g.135840145_135840158del, NC_000009.11:g.135840146_135840158del, NC_000009.11:g.135840147_135840158del, NC_000009.11:g.135840148_135840158del, NC_000009.11:g.135840149_135840158del, NC_000009.11:g.135840150_135840158del, NC_000009.11:g.135840151_135840158del, NC_000009.11:g.135840152_135840158del, NC_000009.11:g.135840153_135840158del, NC_000009.11:g.135840154_135840158del, NC_000009.11:g.135840155_135840158del, NC_000009.11:g.135840156_135840158del, NC_000009.11:g.135840157_135840158del, NC_000009.11:g.135840158del, NC_000009.11:g.135840158dup, NC_000009.11:g.135840157_135840158dup, NC_000009.11:g.135840156_135840158dup, NC_000009.11:g.135840155_135840158dup, NC_000009.11:g.135840154_135840158dup, NC_000009.11:g.135840153_135840158dup, NC_000009.11:g.135840152_135840158dup, NG_034227.1:g.24209_24227del, NG_034227.1:g.24211_24227del, NG_034227.1:g.24212_24227del, NG_034227.1:g.24213_24227del, NG_034227.1:g.24214_24227del, NG_034227.1:g.24215_24227del, NG_034227.1:g.24216_24227del, NG_034227.1:g.24217_24227del, NG_034227.1:g.24218_24227del, NG_034227.1:g.24219_24227del, NG_034227.1:g.24220_24227del, NG_034227.1:g.24221_24227del, NG_034227.1:g.24222_24227del, NG_034227.1:g.24223_24227del, NG_034227.1:g.24224_24227del, NG_034227.1:g.24225_24227del, NG_034227.1:g.24226_24227del, NG_034227.1:g.24227del, NG_034227.1:g.24227dup, NG_034227.1:g.24226_24227dup, NG_034227.1:g.24225_24227dup, NG_034227.1:g.24224_24227dup, NG_034227.1:g.24223_24227dup, NG_034227.1:g.24222_24227dup, NG_034227.1:g.24221_24227dup

Select item 14915801682.

rs1491580168 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:132955808 (GRCh38)
9:135831195 (GRCh37)
Canonical SPDI:: NC_000009.12:132955807:AT:
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00006/1 (TOMMO)
-=0.00072/57 (GnomAD)
HGVS:: NC_000009.12:g.132955808_132955809del, NC_000009.11:g.135831195_135831196del, NG_034227.1:g.15264_15265del

Select item 14915574393.

rs1491557439 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 9:132955809 (GRCh38)
9:135831197 (GRCh37)
Canonical SPDI:: NC_000009.12:132955809:G:GCG
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: GC=0.00006/1 (GnomAD)
HGVS:: NC_000009.12:g.132955810_132955811insCG, NC_000009.11:g.135831197_135831198insCG, NG_034227.1:g.15266_15267insCG

Select item 14913929504.

rs1491392950 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGAGAGACAGA>-,AGGAGAGACAGAAGGAGAGACAGA [Show Flanks]
Chromosome:: 9:132971640 (GRCh38)
9:135847027 (GRCh37)
Canonical SPDI:: NC_000009.12:132971629:GAGAGACAGAAGGAGAGACAGA:GAGAGACAGA,NC_000009.12:132971629:GAGAGACAGAAGGAGAGACAGA:GAGAGACAGAAGGAGAGACAGAAGGAGAGACAGA
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GAGAGACAGAAGGAGAGACAGAAGGAGAGACAGA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.132971640_132971651del, NC_000009.12:g.132971640_132971651dup, NC_000009.11:g.135847027_135847038del, NC_000009.11:g.135847027_135847038dup, NG_034227.1:g.31096_31107del, NG_034227.1:g.31096_31107dup

Select item 14913747455.

rs1491374745 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:132961435 (GRCh38)
9:135836822 (GRCh37)
Canonical SPDI:: NC_000009.12:132961433:ACA:A
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.00013/18 (GnomAD)
-=0.000177/3 (TOMMO)
HGVS:: NC_000009.12:g.132961435_132961436del, NC_000009.11:g.135836822_135836823del, NG_034227.1:g.20891_20892del

Select item 14912824006.

rs1491282400 has merged into rs60835289 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 9:132949338 (GRCh38)
9:135824725 (GRCh37)
Canonical SPDI:: NC_000009.12:132949324:ACACACACACACACACA:ACACACACACACA,NC_000009.12:132949324:ACACACACACACACACA:ACACACACACACACA,NC_000009.12:132949324:ACACACACACACACACA:ACACACACACACACACACA,NC_000009.12:132949324:ACACACACACACACACA:ACACACACACACACACACACA,NC_000009.12:132949324:ACACACACACACACACA:ACACACACACACACACACACACA
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACA=0./0 (ALFA)
AC=0.05/2 (GENOME_DK)
AC=0.06513/65 (GoNL)
AC=0.10535/63 (NorthernSweden)
HGVS:: NC_000009.12:g.132949326CA[6], NC_000009.12:g.132949326CA[7], NC_000009.12:g.132949326CA[9], NC_000009.12:g.132949326CA[10], NC_000009.12:g.132949326CA[11], NC_000009.11:g.135824713CA[6], NC_000009.11:g.135824713CA[7], NC_000009.11:g.135824713CA[9], NC_000009.11:g.135824713CA[10], NC_000009.11:g.135824713CA[11], NG_012386.1:g.294GT[6], NG_012386.1:g.294GT[7], NG_012386.1:g.294GT[9], NG_012386.1:g.294GT[10], NG_012386.1:g.294GT[11], NG_034227.1:g.8782CA[6], NG_034227.1:g.8782CA[7], NG_034227.1:g.8782CA[9], NG_034227.1:g.8782CA[10], NG_034227.1:g.8782CA[11]

Select item 14912482977.

rs1491248297 has merged into rs35035214 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:132947420 (GRCh38)
9:135822807 (GRCh37)
Canonical SPDI:: NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.4776/2392 (1000Genomes)
HGVS:: NC_000009.12:g.132947420_132947430del, NC_000009.12:g.132947422_132947430del, NC_000009.12:g.132947423_132947430del, NC_000009.12:g.132947424_132947430del, NC_000009.12:g.132947425_132947430del, NC_000009.12:g.132947426_132947430del, NC_000009.12:g.132947427_132947430del, NC_000009.12:g.132947428_132947430del, NC_000009.12:g.132947429_132947430del, NC_000009.12:g.132947430del, NC_000009.12:g.132947430dup, NC_000009.12:g.132947429_132947430dup, NC_000009.12:g.132947428_132947430dup, NC_000009.12:g.132947427_132947430dup, NC_000009.12:g.132947426_132947430dup, NC_000009.12:g.132947425_132947430dup, NC_000009.12:g.132947422_132947430dup, NC_000009.12:g.132947420_132947430dup, NC_000009.12:g.132947419_132947430dup, NC_000009.12:g.132947418_132947430dup, NC_000009.11:g.135822807_135822817del, NC_000009.11:g.135822809_135822817del, NC_000009.11:g.135822810_135822817del, NC_000009.11:g.135822811_135822817del, NC_000009.11:g.135822812_135822817del, NC_000009.11:g.135822813_135822817del, NC_000009.11:g.135822814_135822817del, NC_000009.11:g.135822815_135822817del, NC_000009.11:g.135822816_135822817del, NC_000009.11:g.135822817del, NC_000009.11:g.135822817dup, NC_000009.11:g.135822816_135822817dup, NC_000009.11:g.135822815_135822817dup, NC_000009.11:g.135822814_135822817dup, NC_000009.11:g.135822813_135822817dup, NC_000009.11:g.135822812_135822817dup, NC_000009.11:g.135822809_135822817dup, NC_000009.11:g.135822807_135822817dup, NC_000009.11:g.135822806_135822817dup, NC_000009.11:g.135822805_135822817dup, NG_012386.1:g.2211_2221del, NG_012386.1:g.2213_2221del, NG_012386.1:g.2214_2221del, NG_012386.1:g.2215_2221del, NG_012386.1:g.2216_2221del, NG_012386.1:g.2217_2221del, NG_012386.1:g.2218_2221del, NG_012386.1:g.2219_2221del, NG_012386.1:g.2220_2221del, NG_012386.1:g.2221del, NG_012386.1:g.2221dup, NG_012386.1:g.2220_2221dup, NG_012386.1:g.2219_2221dup, NG_012386.1:g.2218_2221dup, NG_012386.1:g.2217_2221dup, NG_012386.1:g.2216_2221dup, NG_012386.1:g.2213_2221dup, NG_012386.1:g.2211_2221dup, NG_012386.1:g.2210_2221dup, NG_012386.1:g.2209_2221dup, NG_034227.1:g.6876_6886del, NG_034227.1:g.6878_6886del, NG_034227.1:g.6879_6886del, NG_034227.1:g.6880_6886del, NG_034227.1:g.6881_6886del, NG_034227.1:g.6882_6886del, NG_034227.1:g.6883_6886del, NG_034227.1:g.6884_6886del, NG_034227.1:g.6885_6886del, NG_034227.1:g.6886del, NG_034227.1:g.6886dup, NG_034227.1:g.6885_6886dup, NG_034227.1:g.6884_6886dup, NG_034227.1:g.6883_6886dup, NG_034227.1:g.6882_6886dup, NG_034227.1:g.6881_6886dup, NG_034227.1:g.6878_6886dup, NG_034227.1:g.6876_6886dup, NG_034227.1:g.6875_6886dup, NG_034227.1:g.6874_6886dup

Select item 14912470608.

rs1491247060 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 9:132947413 (GRCh38)
9:135822801 (GRCh37)
Canonical SPDI:: NC_000009.12:132947413:A:AGA
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
AG=0.02239/757 (GnomAD)
HGVS:: NC_000009.12:g.132947414_132947415insGA, NC_000009.11:g.135822801_135822802insGA, NG_012386.1:g.2220_2221insCT, NG_034227.1:g.6870_6871insGA

Select item 14912216029.

rs1491221602 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATGTGTG [Show Flanks]
Chromosome:: 9:132955808 (GRCh38)
9:135831196 (GRCh37)
Canonical SPDI:: NC_000009.12:132955808:TGTG:TGTGCATGTGTG
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGCATGTGTG=0./0 (ALFA)
TGTGCATG=0.000004/1 (TOPMED)
TGTGCATG=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.132955809_132955812TG[2]CATGTGTG[1], NC_000009.11:g.135831196_135831199TG[2]CATGTGTG[1], NG_034227.1:g.15265_15268TG[2]CATGTGTG[1]

Select item 149121562610.

rs1491215626 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:132963081 (GRCh38)
9:135838468 (GRCh37)
Canonical SPDI:: NC_000009.12:132963080:CA:
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.132963081_132963082del, NC_000009.11:g.135838468_135838469del, NG_034227.1:g.22537_22538del

Select item 149115922711.

rs1491159227 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 9:132971634 (GRCh38)
9:135847021 (GRCh37)
Canonical SPDI:: NC_000009.12:132971628:AGAGAGA:AGAGA
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.132971630GA[2], NC_000009.11:g.135847017GA[2], NG_034227.1:g.31086GA[2]

Select item 149112854612.

rs1491128546 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:132964743 (GRCh38)
9:135840130 (GRCh37)
Canonical SPDI:: NC_000009.12:132964742:CT:
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.132964743_132964744del, NC_000009.11:g.135840130_135840131del, NG_034227.1:g.24199_24200del

Select item 149111996913.

rs1491119969 has merged into rs35035214 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:132947420 (GRCh38)
9:135822807 (GRCh37)
Canonical SPDI:: NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.4776/2392 (1000Genomes)
HGVS:: NC_000009.12:g.132947420_132947430del, NC_000009.12:g.132947422_132947430del, NC_000009.12:g.132947423_132947430del, NC_000009.12:g.132947424_132947430del, NC_000009.12:g.132947425_132947430del, NC_000009.12:g.132947426_132947430del, NC_000009.12:g.132947427_132947430del, NC_000009.12:g.132947428_132947430del, NC_000009.12:g.132947429_132947430del, NC_000009.12:g.132947430del, NC_000009.12:g.132947430dup, NC_000009.12:g.132947429_132947430dup, NC_000009.12:g.132947428_132947430dup, NC_000009.12:g.132947427_132947430dup, NC_000009.12:g.132947426_132947430dup, NC_000009.12:g.132947425_132947430dup, NC_000009.12:g.132947422_132947430dup, NC_000009.12:g.132947420_132947430dup, NC_000009.12:g.132947419_132947430dup, NC_000009.12:g.132947418_132947430dup, NC_000009.11:g.135822807_135822817del, NC_000009.11:g.135822809_135822817del, NC_000009.11:g.135822810_135822817del, NC_000009.11:g.135822811_135822817del, NC_000009.11:g.135822812_135822817del, NC_000009.11:g.135822813_135822817del, NC_000009.11:g.135822814_135822817del, NC_000009.11:g.135822815_135822817del, NC_000009.11:g.135822816_135822817del, NC_000009.11:g.135822817del, NC_000009.11:g.135822817dup, NC_000009.11:g.135822816_135822817dup, NC_000009.11:g.135822815_135822817dup, NC_000009.11:g.135822814_135822817dup, NC_000009.11:g.135822813_135822817dup, NC_000009.11:g.135822812_135822817dup, NC_000009.11:g.135822809_135822817dup, NC_000009.11:g.135822807_135822817dup, NC_000009.11:g.135822806_135822817dup, NC_000009.11:g.135822805_135822817dup, NG_012386.1:g.2211_2221del, NG_012386.1:g.2213_2221del, NG_012386.1:g.2214_2221del, NG_012386.1:g.2215_2221del, NG_012386.1:g.2216_2221del, NG_012386.1:g.2217_2221del, NG_012386.1:g.2218_2221del, NG_012386.1:g.2219_2221del, NG_012386.1:g.2220_2221del, NG_012386.1:g.2221del, NG_012386.1:g.2221dup, NG_012386.1:g.2220_2221dup, NG_012386.1:g.2219_2221dup, NG_012386.1:g.2218_2221dup, NG_012386.1:g.2217_2221dup, NG_012386.1:g.2216_2221dup, NG_012386.1:g.2213_2221dup, NG_012386.1:g.2211_2221dup, NG_012386.1:g.2210_2221dup, NG_012386.1:g.2209_2221dup, NG_034227.1:g.6876_6886del, NG_034227.1:g.6878_6886del, NG_034227.1:g.6879_6886del, NG_034227.1:g.6880_6886del, NG_034227.1:g.6881_6886del, NG_034227.1:g.6882_6886del, NG_034227.1:g.6883_6886del, NG_034227.1:g.6884_6886del, NG_034227.1:g.6885_6886del, NG_034227.1:g.6886del, NG_034227.1:g.6886dup, NG_034227.1:g.6885_6886dup, NG_034227.1:g.6884_6886dup, NG_034227.1:g.6883_6886dup, NG_034227.1:g.6882_6886dup, NG_034227.1:g.6881_6886dup, NG_034227.1:g.6878_6886dup, NG_034227.1:g.6876_6886dup, NG_034227.1:g.6875_6886dup, NG_034227.1:g.6874_6886dup

Select item 149109515614.

rs1491095156 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 9:132955807 (GRCh38)
9:135831195 (GRCh37)
Canonical SPDI:: NC_000009.12:132955807::GT,NC_000009.12:132955807::GTGT,NC_000009.12:132955807::GTGTGT,NC_000009.12:132955807::GTGTGTGT,NC_000009.12:132955807::GTGTGTGTGT
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
GTGTGT=0.00039/6 (TOMMO)
GTGTGT=0.00218/4 (Korea1K)
HGVS:: NC_000009.12:g.132955807_132955808insGT, NC_000009.12:g.132955807_132955808insGTGT, NC_000009.12:g.132955807_132955808insGTGTGT, NC_000009.12:g.132955807_132955808insGTGTGTGT, NC_000009.12:g.132955807_132955808insGTGTGTGTGT, NC_000009.11:g.135831194_135831195insGT, NC_000009.11:g.135831194_135831195insGTGT, NC_000009.11:g.135831194_135831195insGTGTGT, NC_000009.11:g.135831194_135831195insGTGTGTGT, NC_000009.11:g.135831194_135831195insGTGTGTGTGT, NG_034227.1:g.15263_15264insGT, NG_034227.1:g.15263_15264insGTGT, NG_034227.1:g.15263_15264insGTGTGT, NG_034227.1:g.15263_15264insGTGTGTGT, NG_034227.1:g.15263_15264insGTGTGTGTGT

Select item 149108216215.

rs1491082162 has merged into rs11393530 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 9:132961433 (GRCh38)
9:135836820 (GRCh37)
Canonical SPDI:: NC_000009.12:132961422:AAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:132961422:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:132961422:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:132961422:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:132961422:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.3982/1994 (1000Genomes)
HGVS:: NC_000009.12:g.132961433_132961434del, NC_000009.12:g.132961434del, NC_000009.12:g.132961434dup, NC_000009.12:g.132961433_132961434dup, NC_000009.12:g.132961432_132961434dup, NC_000009.11:g.135836820_135836821del, NC_000009.11:g.135836821del, NC_000009.11:g.135836821dup, NC_000009.11:g.135836820_135836821dup, NC_000009.11:g.135836819_135836821dup, NG_034227.1:g.20889_20890del, NG_034227.1:g.20890del, NG_034227.1:g.20890dup, NG_034227.1:g.20889_20890dup, NG_034227.1:g.20888_20890dup

Select item 149107230116.

rs1491072301 has merged into rs66711864 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:132983201 (GRCh38)
9:135858588 (GRCh37)
Canonical SPDI:: NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:132983190:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GFI1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000034/9 (TOPMED)
HGVS:: NC_000009.12:g.132983201_132983211del, NC_000009.12:g.132983202_132983211del, NC_000009.12:g.132983203_132983211del, NC_000009.12:g.132983205_132983211del, NC_000009.12:g.132983208_132983211del, NC_000009.12:g.132983209_132983211del, NC_000009.12:g.132983210_132983211del, NC_000009.12:g.132983211del, NC_000009.12:g.132983211dup, NC_000009.12:g.132983210_132983211dup, NC_000009.12:g.132983209_132983211dup, NC_000009.12:g.132983208_132983211dup, NC_000009.12:g.132983207_132983211dup, NC_000009.12:g.132983206_132983211dup, NC_000009.12:g.132983211_132983212insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.135858588_135858598del, NC_000009.11:g.135858589_135858598del, NC_000009.11:g.135858590_135858598del, NC_000009.11:g.135858592_135858598del, NC_000009.11:g.135858595_135858598del, NC_000009.11:g.135858596_135858598del, NC_000009.11:g.135858597_135858598del, NC_000009.11:g.135858598del, NC_000009.11:g.135858598dup, NC_000009.11:g.135858597_135858598dup, NC_000009.11:g.135858596_135858598dup, NC_000009.11:g.135858595_135858598dup, NC_000009.11:g.135858594_135858598dup, NC_000009.11:g.135858593_135858598dup, NC_000009.11:g.135858598_135858599insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034227.1:g.42657_42667del, NG_034227.1:g.42658_42667del, NG_034227.1:g.42659_42667del, NG_034227.1:g.42661_42667del, NG_034227.1:g.42664_42667del, NG_034227.1:g.42665_42667del, NG_034227.1:g.42666_42667del, NG_034227.1:g.42667del, NG_034227.1:g.42667dup, NG_034227.1:g.42666_42667dup, NG_034227.1:g.42665_42667dup, NG_034227.1:g.42664_42667dup, NG_034227.1:g.42663_42667dup, NG_034227.1:g.42662_42667dup, NG_034227.1:g.42667_42668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149106306217.

rs1491063062 has merged into rs145131246 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA [Show Flanks]
Chromosome:: 9:132962081 (GRCh38)
9:135837468 (GRCh37)
Canonical SPDI:: NC_000009.12:132962067:ACACACACACACACACACACACACA:ACACACACACACA,NC_000009.12:132962067:ACACACACACACACACACACACACA:ACACACACACACACACA,NC_000009.12:132962067:ACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000009.12:132962067:ACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000009.12:132962067:ACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000009.12:132962067:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000009.12:132962067:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000009.12:132962067:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000009.12:132962067:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000009.12:132962067:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000009.12:132962067:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000009.12:g.132962069CA[6], NC_000009.12:g.132962069CA[8], NC_000009.12:g.132962069CA[9], NC_000009.12:g.132962069CA[10], NC_000009.12:g.132962069CA[11], NC_000009.12:g.132962069CA[13], NC_000009.12:g.132962069CA[14], NC_000009.12:g.132962069CA[15], NC_000009.12:g.132962069CA[16], NC_000009.12:g.132962069CA[17], NC_000009.12:g.132962069CA[18], NC_000009.11:g.135837456CA[6], NC_000009.11:g.135837456CA[8], NC_000009.11:g.135837456CA[9], NC_000009.11:g.135837456CA[10], NC_000009.11:g.135837456CA[11], NC_000009.11:g.135837456CA[13], NC_000009.11:g.135837456CA[14], NC_000009.11:g.135837456CA[15], NC_000009.11:g.135837456CA[16], NC_000009.11:g.135837456CA[17], NC_000009.11:g.135837456CA[18], NG_034227.1:g.21525CA[6], NG_034227.1:g.21525CA[8], NG_034227.1:g.21525CA[9], NG_034227.1:g.21525CA[10], NG_034227.1:g.21525CA[11], NG_034227.1:g.21525CA[13], NG_034227.1:g.21525CA[14], NG_034227.1:g.21525CA[15], NG_034227.1:g.21525CA[16], NG_034227.1:g.21525CA[17], NG_034227.1:g.21525CA[18]

Select item 149105158318.

rs1491051583 has merged into rs55710047 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 9:132971988 (GRCh38)
9:135847375 (GRCh37)
Canonical SPDI:: NC_000009.12:132971972:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:132971972:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:132971972:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:132971972:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:132971972:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:132971972:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132971972:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132971972:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.132971988_132971989del, NC_000009.12:g.132971989del, NC_000009.12:g.132971989dup, NC_000009.12:g.132971988_132971989dup, NC_000009.12:g.132971987_132971989dup, NC_000009.12:g.132971986_132971989dup, NC_000009.12:g.132971985_132971989dup, NC_000009.12:g.132971982_132971989dup, NC_000009.11:g.135847375_135847376del, NC_000009.11:g.135847376del, NC_000009.11:g.135847376dup, NC_000009.11:g.135847375_135847376dup, NC_000009.11:g.135847374_135847376dup, NC_000009.11:g.135847373_135847376dup, NC_000009.11:g.135847372_135847376dup, NC_000009.11:g.135847369_135847376dup, NG_034227.1:g.31444_31445del, NG_034227.1:g.31445del, NG_034227.1:g.31445dup, NG_034227.1:g.31444_31445dup, NG_034227.1:g.31443_31445dup, NG_034227.1:g.31442_31445dup, NG_034227.1:g.31441_31445dup, NG_034227.1:g.31438_31445dup

Select item 149104205519.

rs1491042055 has merged into rs60268965 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:132962928 (GRCh38)
9:135838315 (GRCh37)
Canonical SPDI:: NC_000009.12:132962916:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:132962916:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:132962916:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:132962916:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:132962916:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:132962916:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:132962916:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:132962916:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132962916:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132962916:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:132962916:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.132962928_132962933del, NC_000009.12:g.132962931_132962933del, NC_000009.12:g.132962932_132962933del, NC_000009.12:g.132962933del, NC_000009.12:g.132962933dup, NC_000009.12:g.132962932_132962933dup, NC_000009.12:g.132962931_132962933dup, NC_000009.12:g.132962930_132962933dup, NC_000009.12:g.132962929_132962933dup, NC_000009.12:g.132962924_132962933dup, NC_000009.12:g.132962921_132962933dup, NC_000009.11:g.135838315_135838320del, NC_000009.11:g.135838318_135838320del, NC_000009.11:g.135838319_135838320del, NC_000009.11:g.135838320del, NC_000009.11:g.135838320dup, NC_000009.11:g.135838319_135838320dup, NC_000009.11:g.135838318_135838320dup, NC_000009.11:g.135838317_135838320dup, NC_000009.11:g.135838316_135838320dup, NC_000009.11:g.135838311_135838320dup, NC_000009.11:g.135838308_135838320dup, NG_034227.1:g.22384_22389del, NG_034227.1:g.22387_22389del, NG_034227.1:g.22388_22389del, NG_034227.1:g.22389del, NG_034227.1:g.22389dup, NG_034227.1:g.22388_22389dup, NG_034227.1:g.22387_22389dup, NG_034227.1:g.22386_22389dup, NG_034227.1:g.22385_22389dup, NG_034227.1:g.22380_22389dup, NG_034227.1:g.22377_22389dup

Select item 149095415720.

rs1490954157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:132957576 (GRCh38)
9:135832963 (GRCh37)
Canonical SPDI:: NC_000009.12:132957575:A:G
Gene:: GFI1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.132957576A>G, NC_000009.11:g.135832963A>G, NG_034227.1:g.17032A>G

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