SNP Links for Gene (Select 10204) - SNP

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Select item 14915685171.

rs1491568517 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 16:67855888 (GRCh38)
16:67889792 (GRCh37)
Canonical SPDI:: NC_000016.10:67855888:G:GCG
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0.000084/1 (ALFA)
GC=0.000144/15 (GnomAD)
HGVS:: NC_000016.10:g.67855889_67855890insCG, NC_000016.9:g.67889792_67889793insCG

Select item 14915643442.

rs1491564344 has merged into rs796843812 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 16:67855897 (GRCh38)
16:67889800 (GRCh37)
Canonical SPDI:: NC_000016.10:67855887:GGGGGGGGGGG:GGGGGGGGG,NC_000016.10:67855887:GGGGGGGGGGG:GGGGGGGGGG,NC_000016.10:67855887:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000016.10:67855887:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000016.10:67855887:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000016.10:67855887:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000016.10:67855887:GGGGGGGGGGG:GGGGGGGGGGGGGGGG
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000016.10:g.67855897_67855898del, NC_000016.10:g.67855898del, NC_000016.10:g.67855898dup, NC_000016.10:g.67855897_67855898dup, NC_000016.10:g.67855896_67855898dup, NC_000016.10:g.67855895_67855898dup, NC_000016.10:g.67855894_67855898dup, NC_000016.9:g.67889800_67889801del, NC_000016.9:g.67889801del, NC_000016.9:g.67889801dup, NC_000016.9:g.67889800_67889801dup, NC_000016.9:g.67889799_67889801dup, NC_000016.9:g.67889798_67889801dup, NC_000016.9:g.67889797_67889801dup

Select item 14915091493.

rs1491509149 has merged into rs34914554 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:67859805 (GRCh38)
16:67893708 (GRCh37)
Canonical SPDI:: NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67859795:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTTTTTT=0.0034/2 (NorthernSweden)
TT=0.4/16 (GENOME_DK)
HGVS:: NC_000016.10:g.67859805_67859822del, NC_000016.10:g.67859808_67859822del, NC_000016.10:g.67859809_67859822del, NC_000016.10:g.67859810_67859822del, NC_000016.10:g.67859811_67859822del, NC_000016.10:g.67859812_67859822del, NC_000016.10:g.67859813_67859822del, NC_000016.10:g.67859814_67859822del, NC_000016.10:g.67859815_67859822del, NC_000016.10:g.67859816_67859822del, NC_000016.10:g.67859817_67859822del, NC_000016.10:g.67859818_67859822del, NC_000016.10:g.67859819_67859822del, NC_000016.10:g.67859820_67859822del, NC_000016.10:g.67859821_67859822del, NC_000016.10:g.67859822del, NC_000016.10:g.67859822dup, NC_000016.10:g.67859821_67859822dup, NC_000016.10:g.67859820_67859822dup, NC_000016.10:g.67859819_67859822dup, NC_000016.10:g.67859813_67859822dup, NC_000016.9:g.67893708_67893725del, NC_000016.9:g.67893711_67893725del, NC_000016.9:g.67893712_67893725del, NC_000016.9:g.67893713_67893725del, NC_000016.9:g.67893714_67893725del, NC_000016.9:g.67893715_67893725del, NC_000016.9:g.67893716_67893725del, NC_000016.9:g.67893717_67893725del, NC_000016.9:g.67893718_67893725del, NC_000016.9:g.67893719_67893725del, NC_000016.9:g.67893720_67893725del, NC_000016.9:g.67893721_67893725del, NC_000016.9:g.67893722_67893725del, NC_000016.9:g.67893723_67893725del, NC_000016.9:g.67893724_67893725del, NC_000016.9:g.67893725del, NC_000016.9:g.67893725dup, NC_000016.9:g.67893724_67893725dup, NC_000016.9:g.67893723_67893725dup, NC_000016.9:g.67893722_67893725dup, NC_000016.9:g.67893716_67893725dup

Select item 14914962174.

rs1491496217 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:67859976 (GRCh38)
16:67893879 (GRCh37)
Canonical SPDI:: NC_000016.10:67859974:TAT:T
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000022/3 (GnomAD)
HGVS:: NC_000016.10:g.67859976_67859977del, NC_000016.9:g.67893879_67893880del

Select item 14914670835.

rs1491467083 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:67859975 (GRCh38)
16:67893879 (GRCh37)
Canonical SPDI:: NC_000016.10:67859975::G
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000245/4 (ALFA)
G=0.006811/940 (GnomAD)
HGVS:: NC_000016.10:g.67859975_67859976insG, NC_000016.9:g.67893878_67893879insG

Select item 14914199746.

rs1491419974 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:67848756 (GRCh38)
16:67882660 (GRCh37)
Canonical SPDI:: NC_000016.10:67848756:G:GG
Gene:: NUTF2 (Varview), CENPT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.67848757dup, NC_000016.9:g.67882660dup

Select item 14914131177.

rs1491413117 has merged into rs1208303500 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:67871172 (GRCh38)
16:67905075 (GRCh37)
Canonical SPDI:: NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NUTF2 (Varview), EDC4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.67871172_67871184del, NC_000016.10:g.67871173_67871184del, NC_000016.10:g.67871174_67871184del, NC_000016.10:g.67871175_67871184del, NC_000016.10:g.67871177_67871184del, NC_000016.10:g.67871179_67871184del, NC_000016.10:g.67871180_67871184del, NC_000016.10:g.67871181_67871184del, NC_000016.10:g.67871182_67871184del, NC_000016.10:g.67871183_67871184del, NC_000016.10:g.67871184del, NC_000016.10:g.67871184dup, NC_000016.10:g.67871183_67871184dup, NC_000016.10:g.67871182_67871184dup, NC_000016.10:g.67871181_67871184dup, NC_000016.10:g.67871176_67871184dup, NC_000016.10:g.67871175_67871184dup, NC_000016.10:g.67871174_67871184dup, NC_000016.10:g.67871172_67871184dup, NC_000016.9:g.67905075_67905087del, NC_000016.9:g.67905076_67905087del, NC_000016.9:g.67905077_67905087del, NC_000016.9:g.67905078_67905087del, NC_000016.9:g.67905080_67905087del, NC_000016.9:g.67905082_67905087del, NC_000016.9:g.67905083_67905087del, NC_000016.9:g.67905084_67905087del, NC_000016.9:g.67905085_67905087del, NC_000016.9:g.67905086_67905087del, NC_000016.9:g.67905087del, NC_000016.9:g.67905087dup, NC_000016.9:g.67905086_67905087dup, NC_000016.9:g.67905085_67905087dup, NC_000016.9:g.67905084_67905087dup, NC_000016.9:g.67905079_67905087dup, NC_000016.9:g.67905078_67905087dup, NC_000016.9:g.67905077_67905087dup, NC_000016.9:g.67905075_67905087dup, NM_005796.3:c.*259_*271del, NM_005796.3:c.*260_*271del, NM_005796.3:c.*261_*271del, NM_005796.3:c.*262_*271del, NM_005796.3:c.*264_*271del, NM_005796.3:c.*266_*271del, NM_005796.3:c.*267_*271del, NM_005796.3:c.*268_*271del, NM_005796.3:c.*269_*271del, NM_005796.3:c.*270_*271del, NM_005796.3:c.*271del, NM_005796.3:c.*271dup, NM_005796.3:c.*270_*271dup, NM_005796.3:c.*269_*271dup, NM_005796.3:c.*268_*271dup, NM_005796.3:c.*263_*271dup, NM_005796.3:c.*262_*271dup, NM_005796.3:c.*261_*271dup, NM_005796.3:c.*259_*271dup, NM_005796.2:c.*259_*271del, NM_005796.2:c.*260_*271del, NM_005796.2:c.*261_*271del, NM_005796.2:c.*262_*271del, NM_005796.2:c.*264_*271del, NM_005796.2:c.*266_*271del, NM_005796.2:c.*267_*271del, NM_005796.2:c.*268_*271del, NM_005796.2:c.*269_*271del, NM_005796.2:c.*270_*271del, NM_005796.2:c.*271del, NM_005796.2:c.*271dup, NM_005796.2:c.*270_*271dup, NM_005796.2:c.*269_*271dup, NM_005796.2:c.*268_*271dup, NM_005796.2:c.*263_*271dup, NM_005796.2:c.*262_*271dup, NM_005796.2:c.*261_*271dup, NM_005796.2:c.*259_*271dup, NM_005796.1:c.*259_*271del, NM_005796.1:c.*260_*271del, NM_005796.1:c.*261_*271del, NM_005796.1:c.*262_*271del, NM_005796.1:c.*264_*271del, NM_005796.1:c.*266_*271del, NM_005796.1:c.*267_*271del, NM_005796.1:c.*268_*271del, NM_005796.1:c.*269_*271del, NM_005796.1:c.*270_*271del, NM_005796.1:c.*271del, NM_005796.1:c.*271dup, NM_005796.1:c.*270_*271dup, NM_005796.1:c.*269_*271dup, NM_005796.1:c.*268_*271dup, NM_005796.1:c.*263_*271dup, NM_005796.1:c.*262_*271dup, NM_005796.1:c.*261_*271dup, NM_005796.1:c.*259_*271dup, NM_001322041.2:c.*259_*271del, NM_001322041.2:c.*260_*271del, NM_001322041.2:c.*261_*271del, NM_001322041.2:c.*262_*271del, NM_001322041.2:c.*264_*271del, NM_001322041.2:c.*266_*271del, NM_001322041.2:c.*267_*271del, NM_001322041.2:c.*268_*271del, NM_001322041.2:c.*269_*271del, NM_001322041.2:c.*270_*271del, NM_001322041.2:c.*271del, NM_001322041.2:c.*271dup, NM_001322041.2:c.*270_*271dup, NM_001322041.2:c.*269_*271dup, NM_001322041.2:c.*268_*271dup, NM_001322041.2:c.*263_*271dup, NM_001322041.2:c.*262_*271dup, NM_001322041.2:c.*261_*271dup, NM_001322041.2:c.*259_*271dup, NM_001322041.1:c.*259_*271del, NM_001322041.1:c.*260_*271del, NM_001322041.1:c.*261_*271del, NM_001322041.1:c.*262_*271del, NM_001322041.1:c.*264_*271del, NM_001322041.1:c.*266_*271del, NM_001322041.1:c.*267_*271del, NM_001322041.1:c.*268_*271del, NM_001322041.1:c.*269_*271del, NM_001322041.1:c.*270_*271del, NM_001322041.1:c.*271del, NM_001322041.1:c.*271dup, NM_001322041.1:c.*270_*271dup, NM_001322041.1:c.*269_*271dup, NM_001322041.1:c.*268_*271dup, NM_001322041.1:c.*263_*271dup, NM_001322041.1:c.*262_*271dup, NM_001322041.1:c.*261_*271dup, NM_001322041.1:c.*259_*271dup, NM_001322040.2:c.*259_*271del, NM_001322040.2:c.*260_*271del, NM_001322040.2:c.*261_*271del, NM_001322040.2:c.*262_*271del, NM_001322040.2:c.*264_*271del, NM_001322040.2:c.*266_*271del, NM_001322040.2:c.*267_*271del, NM_001322040.2:c.*268_*271del, NM_001322040.2:c.*269_*271del, NM_001322040.2:c.*270_*271del, NM_001322040.2:c.*271del, NM_001322040.2:c.*271dup, NM_001322040.2:c.*270_*271dup, NM_001322040.2:c.*269_*271dup, NM_001322040.2:c.*268_*271dup, NM_001322040.2:c.*263_*271dup, NM_001322040.2:c.*262_*271dup, NM_001322040.2:c.*261_*271dup, NM_001322040.2:c.*259_*271dup, NM_001322040.1:c.*259_*271del, NM_001322040.1:c.*260_*271del, NM_001322040.1:c.*261_*271del, NM_001322040.1:c.*262_*271del, NM_001322040.1:c.*264_*271del, NM_001322040.1:c.*266_*271del, NM_001322040.1:c.*267_*271del, NM_001322040.1:c.*268_*271del, NM_001322040.1:c.*269_*271del, NM_001322040.1:c.*270_*271del, NM_001322040.1:c.*271del, NM_001322040.1:c.*271dup, NM_001322040.1:c.*270_*271dup, NM_001322040.1:c.*269_*271dup, NM_001322040.1:c.*268_*271dup, NM_001322040.1:c.*263_*271dup, NM_001322040.1:c.*262_*271dup, NM_001322040.1:c.*261_*271dup, NM_001322040.1:c.*259_*271dup, NM_001322039.2:c.*259_*271del, NM_001322039.2:c.*260_*271del, NM_001322039.2:c.*261_*271del, NM_001322039.2:c.*262_*271del, NM_001322039.2:c.*264_*271del, NM_001322039.2:c.*266_*271del, NM_001322039.2:c.*267_*271del, NM_001322039.2:c.*268_*271del, NM_001322039.2:c.*269_*271del, NM_001322039.2:c.*270_*271del, NM_001322039.2:c.*271del, NM_001322039.2:c.*271dup, NM_001322039.2:c.*270_*271dup, NM_001322039.2:c.*269_*271dup, NM_001322039.2:c.*268_*271dup, NM_001322039.2:c.*263_*271dup, NM_001322039.2:c.*262_*271dup, NM_001322039.2:c.*261_*271dup, NM_001322039.2:c.*259_*271dup, NM_001322039.1:c.*259_*271del, NM_001322039.1:c.*260_*271del, NM_001322039.1:c.*261_*271del, NM_001322039.1:c.*262_*271del, NM_001322039.1:c.*264_*271del, NM_001322039.1:c.*266_*271del, NM_001322039.1:c.*267_*271del, NM_001322039.1:c.*268_*271del, NM_001322039.1:c.*269_*271del, NM_001322039.1:c.*270_*271del, NM_001322039.1:c.*271del, NM_001322039.1:c.*271dup, NM_001322039.1:c.*270_*271dup, NM_001322039.1:c.*269_*271dup, NM_001322039.1:c.*268_*271dup, NM_001322039.1:c.*263_*271dup, NM_001322039.1:c.*262_*271dup, NM_001322039.1:c.*261_*271dup, NM_001322039.1:c.*259_*271dup, NM_001322038.2:c.*259_*271del, NM_001322038.2:c.*260_*271del, NM_001322038.2:c.*261_*271del, NM_001322038.2:c.*262_*271del, NM_001322038.2:c.*264_*271del, NM_001322038.2:c.*266_*271del, NM_001322038.2:c.*267_*271del, NM_001322038.2:c.*268_*271del, NM_001322038.2:c.*269_*271del, NM_001322038.2:c.*270_*271del, NM_001322038.2:c.*271del, NM_001322038.2:c.*271dup, NM_001322038.2:c.*270_*271dup, NM_001322038.2:c.*269_*271dup, NM_001322038.2:c.*268_*271dup, NM_001322038.2:c.*263_*271dup, NM_001322038.2:c.*262_*271dup, NM_001322038.2:c.*261_*271dup, NM_001322038.2:c.*259_*271dup, NM_001322038.1:c.*259_*271del, NM_001322038.1:c.*260_*271del, NM_001322038.1:c.*261_*271del, NM_001322038.1:c.*262_*271del, NM_001322038.1:c.*264_*271del, NM_001322038.1:c.*266_*271del, NM_001322038.1:c.*267_*271del, NM_001322038.1:c.*268_*271del, NM_001322038.1:c.*269_*271del, NM_001322038.1:c.*270_*271del, NM_001322038.1:c.*271del, NM_001322038.1:c.*271dup, NM_001322038.1:c.*270_*271dup, NM_001322038.1:c.*269_*271dup, NM_001322038.1:c.*268_*271dup, NM_001322038.1:c.*263_*271dup, NM_001322038.1:c.*262_*271dup, NM_001322038.1:c.*261_*271dup, NM_001322038.1:c.*259_*271dup

Select item 14912303528.

rs1491230352 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:67871162 (GRCh38)
16:67905065 (GRCh37)
Canonical SPDI:: NC_000016.10:67871161:CT:
Gene:: NUTF2 (Varview), EDC4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000041/5 (GnomAD)
HGVS:: NC_000016.10:g.67871162_67871163del, NC_000016.9:g.67905065_67905066del, NM_005796.3:c.*249_*250del, NM_005796.2:c.*249_*250del, NM_005796.1:c.*249_*250del, NM_001322041.2:c.*249_*250del, NM_001322041.1:c.*249_*250del, NM_001322040.2:c.*249_*250del, NM_001322040.1:c.*249_*250del, NM_001322039.2:c.*249_*250del, NM_001322039.1:c.*249_*250del, NM_001322038.2:c.*249_*250del, NM_001322038.1:c.*249_*250del

Select item 14910904559.

rs1491090455 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:67859795 (GRCh38)
16:67893698 (GRCh37)
Canonical SPDI:: NC_000016.10:67859794:CT:
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000045/5 (GnomAD)
HGVS:: NC_000016.10:g.67859795_67859796del, NC_000016.9:g.67893698_67893699del

Select item 149087034610.

rs1490870346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:67850720 (GRCh38)
16:67884623 (GRCh37)
Canonical SPDI:: NC_000016.10:67850719:C:G
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67850720C>G, NC_000016.9:g.67884623C>G

Select item 149081716211.

rs1490817162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67865767 (GRCh38)
16:67899670 (GRCh37)
Canonical SPDI:: NC_000016.10:67865766:G:A
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67865767G>A, NC_000016.9:g.67899670G>A

Select item 149076053612.

rs1490760536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:67866814 (GRCh38)
16:67900717 (GRCh37)
Canonical SPDI:: NC_000016.10:67866813:G:T
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67866814G>T, NC_000016.9:g.67900717G>T

Select item 149059870213.

rs1490598702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:67845553 (GRCh38)
16:67879456 (GRCh37)
Canonical SPDI:: NC_000016.10:67845552:G:T
Gene:: NUTF2 (Varview), CENPT (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67845553G>T, NC_000016.9:g.67879456G>T

Select item 149057607714.

rs1490576077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:67858214 (GRCh38)
16:67892117 (GRCh37)
Canonical SPDI:: NC_000016.10:67858213:C:G
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.67858214C>G, NC_000016.9:g.67892117C>G

Select item 149035342915.

rs1490353429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67859381 (GRCh38)
16:67893284 (GRCh37)
Canonical SPDI:: NC_000016.10:67859380:C:T
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.002/9 (ALFA)
HGVS:: NC_000016.10:g.67859381C>T, NC_000016.9:g.67893284C>T

Select item 149030882816.

rs1490308828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:67856169 (GRCh38)
16:67890072 (GRCh37)
Canonical SPDI:: NC_000016.10:67856168:C:G
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.67856169C>G, NC_000016.9:g.67890072C>G

Select item 149022768117.

rs1490227681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:67872464 (GRCh38)
16:67906367 (GRCh37)
Canonical SPDI:: NC_000016.10:67872463:G:T
Gene:: NUTF2 (Varview), EDC4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67872464G>T, NC_000016.9:g.67906367G>T, NM_005796.3:c.*1551G>T, NM_005796.2:c.*1551G>T, NM_001322041.2:c.*1551G>T, NM_001322041.1:c.*1551G>T, NM_001322040.2:c.*1551G>T, NM_001322040.1:c.*1551G>T, NM_001322039.2:c.*1551G>T, NM_001322039.1:c.*1551G>T, NM_001322038.2:c.*1551G>T, NM_001322038.1:c.*1551G>T

Select item 149010289918.

rs1490102899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:67849633 (GRCh38)
16:67883536 (GRCh37)
Canonical SPDI:: NC_000016.10:67849632:T:C
Gene:: NUTF2 (Varview), CENPT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67849633T>C, NC_000016.9:g.67883536T>C

Select item 149001509719.

rs1490015097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67864300 (GRCh38)
16:67898203 (GRCh37)
Canonical SPDI:: NC_000016.10:67864299:C:T
Gene:: NUTF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67864300C>T, NC_000016.9:g.67898203C>T

Select item 148981618420.

rs1489816184 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 16:67845092 (GRCh38)
16:67878995 (GRCh37)
Canonical SPDI:: NC_000016.10:67845091:TTTTTT:TTTTT
Gene:: NUTF2 (Varview), CENPT (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67845097del, NC_000016.9:g.67879000del