SNP Links for Gene (Select 135935) - SNP

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Select item 14915762071.

rs1491576207 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:144402748 (GRCh38)
7:144099841 (GRCh37)
Canonical SPDI:: NC_000007.14:144402747:AT:
Gene:: NOBOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000029/3 (GnomAD)
-=0.000036/1 (TOMMO)
HGVS:: NC_000007.14:g.144402748_144402749del, NC_000007.13:g.144099841_144099842del, NG_028979.1:g.12479_12480del, NW_018654715.1:g.452237dup, NW_018654715.1:g.452215del

Select item 14913759102.

rs1491375910 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:144402774 (GRCh38)
7:144099867 (GRCh37)
Canonical SPDI:: NC_000007.14:144402773:TG:
Gene:: NOBOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.144402774_144402775del, NC_000007.13:g.144099867_144099868del, NG_028979.1:g.12453_12454del, NW_018654715.1:g.452237_452238del

Select item 14912890883.

rs1491289088 has merged into rs540515599 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:144408251 (GRCh38)
7:144105344 (GRCh37)
Canonical SPDI:: NC_000007.14:144408236:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:144408236:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:144408236:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:144408236:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:144408236:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:144408236:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144408236:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NOBOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0.0003/4 (ALFA)
T=0.5/20 (GENOME_DK)
HGVS:: NC_000007.14:g.144408251_144408253del, NC_000007.14:g.144408252_144408253del, NC_000007.14:g.144408253del, NC_000007.14:g.144408253dup, NC_000007.14:g.144408252_144408253dup, NC_000007.14:g.144408248_144408253dup, NC_000007.14:g.144408244_144408253dup, NC_000007.13:g.144105344_144105346del, NC_000007.13:g.144105345_144105346del, NC_000007.13:g.144105346del, NC_000007.13:g.144105346dup, NC_000007.13:g.144105345_144105346dup, NC_000007.13:g.144105341_144105346dup, NC_000007.13:g.144105337_144105346dup, NG_028979.1:g.6989_6991del, NG_028979.1:g.6990_6991del, NG_028979.1:g.6991del, NG_028979.1:g.6991dup, NG_028979.1:g.6990_6991dup, NG_028979.1:g.6986_6991dup, NG_028979.1:g.6982_6991dup, NW_018654715.1:g.457709_457711del, NW_018654715.1:g.457710_457711del, NW_018654715.1:g.457711del, NW_018654715.1:g.457711dup, NW_018654715.1:g.457710_457711dup, NW_018654715.1:g.457706_457711dup, NW_018654715.1:g.457702_457711dup

Select item 14912830974.

rs1491283097 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 7:144408237 (GRCh38)
7:144105331 (GRCh37)
Canonical SPDI:: NC_000007.14:144408237:T:TCT
Gene:: NOBOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0.00025/3 (ALFA)
TC=0.00028/27 (GnomAD)
HGVS:: NC_000007.14:g.144408238_144408239insCT, NC_000007.13:g.144105331_144105332insCT, NG_028979.1:g.6990_6991insGA, NW_018654715.1:g.457696_457697insCT

Select item 14911052635.

rs1491105263 has merged into rs1218483822 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:144402762 (GRCh38)
7:144099855 (GRCh37)
Canonical SPDI:: NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:144402748:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NOBOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.144402762_144402774del, NC_000007.14:g.144402764_144402774del, NC_000007.14:g.144402765_144402774del, NC_000007.14:g.144402766_144402774del, NC_000007.14:g.144402767_144402774del, NC_000007.14:g.144402768_144402774del, NC_000007.14:g.144402769_144402774del, NC_000007.14:g.144402770_144402774del, NC_000007.14:g.144402771_144402774del, NC_000007.14:g.144402772_144402774del, NC_000007.14:g.144402773_144402774del, NC_000007.14:g.144402774del, NC_000007.14:g.144402774dup, NC_000007.14:g.144402773_144402774dup, NC_000007.14:g.144402772_144402774dup, NC_000007.14:g.144402771_144402774dup, NC_000007.14:g.144402770_144402774dup, NC_000007.14:g.144402769_144402774dup, NC_000007.14:g.144402768_144402774dup, NC_000007.14:g.144402767_144402774dup, NC_000007.14:g.144402766_144402774dup, NC_000007.14:g.144402774_144402775insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.144099855_144099867del, NC_000007.13:g.144099857_144099867del, NC_000007.13:g.144099858_144099867del, NC_000007.13:g.144099859_144099867del, NC_000007.13:g.144099860_144099867del, NC_000007.13:g.144099861_144099867del, NC_000007.13:g.144099862_144099867del, NC_000007.13:g.144099863_144099867del, NC_000007.13:g.144099864_144099867del, NC_000007.13:g.144099865_144099867del, NC_000007.13:g.144099866_144099867del, NC_000007.13:g.144099867del, NC_000007.13:g.144099867dup, NC_000007.13:g.144099866_144099867dup, NC_000007.13:g.144099865_144099867dup, NC_000007.13:g.144099864_144099867dup, NC_000007.13:g.144099863_144099867dup, NC_000007.13:g.144099862_144099867dup, NC_000007.13:g.144099861_144099867dup, NC_000007.13:g.144099860_144099867dup, NC_000007.13:g.144099859_144099867dup, NC_000007.13:g.144099867_144099868insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028979.1:g.12467_12479del, NG_028979.1:g.12469_12479del, NG_028979.1:g.12470_12479del, NG_028979.1:g.12471_12479del, NG_028979.1:g.12472_12479del, NG_028979.1:g.12473_12479del, NG_028979.1:g.12474_12479del, NG_028979.1:g.12475_12479del, NG_028979.1:g.12476_12479del, NG_028979.1:g.12477_12479del, NG_028979.1:g.12478_12479del, NG_028979.1:g.12479del, NG_028979.1:g.12479dup, NG_028979.1:g.12478_12479dup, NG_028979.1:g.12477_12479dup, NG_028979.1:g.12476_12479dup, NG_028979.1:g.12475_12479dup, NG_028979.1:g.12474_12479dup, NG_028979.1:g.12473_12479dup, NG_028979.1:g.12472_12479dup, NG_028979.1:g.12471_12479dup, NG_028979.1:g.12479_12480insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_018654715.1:g.452234_452237dup, NW_018654715.1:g.452229_452237del, NW_018654715.1:g.452231_452237del, NW_018654715.1:g.452232_452237del, NW_018654715.1:g.452233_452237del, NW_018654715.1:g.452234_452237del, NW_018654715.1:g.452235_452237del, NW_018654715.1:g.452236_452237del, NW_018654715.1:g.452237del, NW_018654715.1:g.452237dup, NW_018654715.1:g.452236_452237dup, NW_018654715.1:g.452235_452237dup, NW_018654715.1:g.452233_452237dup, NW_018654715.1:g.452232_452237dup, NW_018654715.1:g.452231_452237dup, NW_018654715.1:g.452230_452237dup, NW_018654715.1:g.452229_452237dup, NW_018654715.1:g.452228_452237dup, NW_018654715.1:g.452227_452237dup, NW_018654715.1:g.452226_452237dup, NW_018654715.1:g.452225_452237dup, NW_018654715.1:g.452237_452238insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910179926.

rs1491017992 has merged into rs376391102 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 7:144407015 (GRCh38)
7:144104108 (GRCh37)
Canonical SPDI:: NC_000007.14:144407004:TTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:144407004:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:144407004:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:144407004:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: NOBOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.0064/4 (1000Genomes)
-=0.11833/71 (NorthernSweden)
-=0.15594/601 (ALSPAC)
-=0.15777/585 (TWINSUK)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000007.14:g.144407015_144407016del, NC_000007.14:g.144407016del, NC_000007.14:g.144407016dup, NC_000007.14:g.144407015_144407016dup, NC_000007.13:g.144104108_144104109del, NC_000007.13:g.144104109del, NC_000007.13:g.144104109dup, NC_000007.13:g.144104108_144104109dup, NG_028979.1:g.8222_8223del, NG_028979.1:g.8223del, NG_028979.1:g.8223dup, NG_028979.1:g.8222_8223dup, NW_018654715.1:g.456474_456475del, NW_018654715.1:g.456475del, NW_018654715.1:g.456475dup, NW_018654715.1:g.456474_456475dup

Select item 14910050817.

rs1491005081 has merged into rs199792093 [Homo sapiens]

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

Select item 14907867848.

rs1490786784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144403721 (GRCh38)
7:144100814 (GRCh37)
Canonical SPDI:: NC_000007.14:144403720:C:T
Gene:: NOBOX (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_000007.14:g.144403721C>T, NC_000007.13:g.144100814C>T, NG_028979.1:g.11507G>A, NW_018654715.1:g.453184C>T

Select item 14906834509.

rs1490683450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144402982 (GRCh38)
7:144100075 (GRCh37)
Canonical SPDI:: NC_000007.14:144402981:C:T
Gene:: NOBOX (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_000007.14:g.144402982C>T, NC_000007.13:g.144100075C>T, NG_028979.1:g.12246G>A, NW_018654715.1:g.452445C>T

Select item 149058509310.

rs1490585093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144401672 (GRCh38)
7:144098765 (GRCh37)
Canonical SPDI:: NC_000007.14:144401671:C:T
Gene:: NOBOX (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)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.144401672C>T, NC_000007.13:g.144098765C>T, NG_028979.1:g.13556G>A, NW_018654715.1:g.451139C>T

Select item 149046559811.

rs1490465598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144404064 (GRCh38)
7:144101157 (GRCh37)
Canonical SPDI:: NC_000007.14:144404063:C:T
Gene:: NOBOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.144404064C>T, NC_000007.13:g.144101157C>T, NG_028979.1:g.11164G>A, NW_018654715.1:g.453522C>T

Select item 149009648512.

rs1490096485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144409673 (GRCh38)
7:144106766 (GRCh37)
Canonical SPDI:: NC_000007.14:144409672:A:G
Gene:: NOBOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.144409673A>G, NC_000007.13:g.144106766A>G, NG_028979.1:g.5555T>C, NW_018654715.1:g.459131A>G

Select item 148974458813.

rs1489744588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:144401171 (GRCh38)
7:144098264 (GRCh37)
Canonical SPDI:: NC_000007.14:144401170:C:A
Gene:: NOBOX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144401171C>A, NC_000007.13:g.144098264C>A, NG_028979.1:g.14057G>T, NM_001080413.3:c.719G>T, NW_018654715.1:g.450638C>A, XM_017011742.3:c.719G>T, XM_017011742.2:c.719G>T, XM_017011742.1:c.719G>T, NP_001073882.3:p.Gly240Val, XP_016867231.1:p.Gly240Val

Select item 148960956614.

rs1489609566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:144402182 (GRCh38)
7:144099275 (GRCh37)
Canonical SPDI:: NC_000007.14:144402181:A:C,NC_000007.14:144402181:A:T
Gene:: NOBOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.02259/268 (ALFA)
T=0.00002/1 (GnomAD)
C=0.03227/539 (TOMMO)
C=0.049/88 (Korea1K)
C=0.08467/243 (KOREAN)
HGVS:: NC_000007.14:g.144402182A>C, NC_000007.14:g.144402182A>T, NC_000007.13:g.144099275A>C, NC_000007.13:g.144099275A>T, NG_028979.1:g.13046T>G, NG_028979.1:g.13046T>A, NW_018654715.1:g.451649A>C, NW_018654715.1:g.451649A>T

Select item 148958167815.

rs1489581678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144408289 (GRCh38)
7:144105382 (GRCh37)
Canonical SPDI:: NC_000007.14:144408288:C:T
Gene:: NOBOX (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.144408289C>T, NC_000007.13:g.144105382C>T, NG_028979.1:g.6939G>A, NW_018654715.1:g.457747C>T

Select item 148957544916.

rs1489575449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:144411403 (GRCh38)
7:144108496 (GRCh37)
Canonical SPDI:: NC_000007.14:144411402:T:G
Gene:: NOBOX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144411403T>G, NC_000007.13:g.144108496T>G, NG_028979.1:g.3825A>C, NW_018654715.1:g.460861T>G

Select item 148956220517.

rs1489562205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144396313 (GRCh38)
7:144093406 (GRCh37)
Canonical SPDI:: NC_000007.14:144396312:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.144396313C>T, NC_000007.13:g.144093406C>T, NG_028979.1:g.18915G>A, NW_018654715.1:g.445780C>T

Select item 148955198418.

rs1489551984 [Homo sapiens]

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

Select item 148951225619.

rs1489512256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144397382 (GRCh38)
7:144094475 (GRCh37)
Canonical SPDI:: NC_000007.14:144397381:A:G
Gene:: NOBOX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.144397382A>G, NC_000007.13:g.144094475A>G, NG_028979.1:g.17846T>C, NM_001080413.3:c.1934T>C, NW_018654715.1:g.446849A>G, XM_017011742.3:c.1838T>C, XM_017011742.2:c.1838T>C, XM_017011742.1:c.1838T>C, NP_001073882.3:p.Leu645Pro, XP_016867231.1:p.Leu613Pro

Select item 148907775420.

rs1489077754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:144411829 (GRCh38)
7:144108922 (GRCh37)
Canonical SPDI:: NC_000007.14:144411828:A:T
Gene:: NOBOX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.144411829A>T, NC_000007.13:g.144108922A>T, NG_028979.1:g.3399T>A, NW_018654715.1:g.461287A>T

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