SNP Links for Gene (Select 95681) - SNP

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Select item 14915156751.

rs1491515675 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:130410030 (GRCh38)
7:130049872 (GRCh37)
Canonical SPDI:: NC_000007.14:130410030:TTTTTTTTTTTTT:TTTTTTTTTTTTTCTTTTTTTTTTTTT
Gene:: CEP41 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTCTTTTTTTTTTTTT=0.001165/19 (ALFA)
TTTTTTTTTTTTTC=0.000298/5 (TOMMO)
TTTTTTTTTTTTTC=0.001385/177 (GnomAD)
HGVS:: NC_000007.14:g.130410031_130410043T[13]CTTTTTTTTTTTTT[1], NC_000007.13:g.130049872_130049884T[13]CTTTTTTTTTTTTT[1], NG_032164.2:g.36168_36180A[13]GAAAAAAAAAAAAA[1], NW_003871065.1:g.65449_65461T[13]CTTTTTTTTTTTTT[1]

Select item 14915064312.

rs1491506431 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 7:130432589 (GRCh38)
7:130072431 (GRCh37)
Canonical SPDI:: NC_000007.14:130432589:A:AGA
Gene:: CEP41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000007.14:g.130432590_130432591insGA, NC_000007.13:g.130072431_130072432insGA, NG_032164.2:g.13621_13622insCT, NW_003871065.1:g.88008_88009insGA

Select item 14914997143.

rs1491499714 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 7:130432586 (GRCh38)
7:130072428 (GRCh37)
Canonical SPDI:: NC_000007.14:130432586:A:AA,NC_000007.14:130432586:A:AAA,NC_000007.14:130432586:A:AAAA,NC_000007.14:130432586:A:AAAAA,NC_000007.14:130432586:A:AAAAAA
Gene:: CEP41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.130432587dup, NC_000007.14:g.130432587_130432588insAA, NC_000007.14:g.130432587_130432588insAAA, NC_000007.14:g.130432587_130432588insAAAA, NC_000007.14:g.130432587_130432588insAAAAA, NC_000007.13:g.130072428dup, NC_000007.13:g.130072428_130072429insAA, NC_000007.13:g.130072428_130072429insAAA, NC_000007.13:g.130072428_130072429insAAAA, NC_000007.13:g.130072428_130072429insAAAAA, NG_032164.2:g.13624dup, NG_032164.2:g.13624_13625insTT, NG_032164.2:g.13624_13625insTTT, NG_032164.2:g.13624_13625insTTTT, NG_032164.2:g.13624_13625insTTTTT, NW_003871065.1:g.88005dup, NW_003871065.1:g.88005_88006insAA, NW_003871065.1:g.88005_88006insAAA, NW_003871065.1:g.88005_88006insAAAA, NW_003871065.1:g.88005_88006insAAAAA

Select item 14913998494.

rs1491399849 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:130432588 (GRCh38)
7:130072429 (GRCh37)
Canonical SPDI:: NC_000007.14:130432585:CACA:CA
Gene:: CEP41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0.00093/11 (ALFA)
-=0.00008/7 (GnomAD)
HGVS:: NC_000007.14:g.130432586CA[1], NC_000007.13:g.130072427CA[1], NG_032164.2:g.13622TG[1], NW_003871065.1:g.88004CA[1]

Select item 14913711015.

rs1491371101 has merged into rs56874452 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:130432601 (GRCh38)
7:130072442 (GRCh37)
Canonical SPDI:: NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130432588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CEP41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.130432601_130432613del, NC_000007.14:g.130432602_130432613del, NC_000007.14:g.130432603_130432613del, NC_000007.14:g.130432604_130432613del, NC_000007.14:g.130432605_130432613del, NC_000007.14:g.130432606_130432613del, NC_000007.14:g.130432607_130432613del, NC_000007.14:g.130432608_130432613del, NC_000007.14:g.130432609_130432613del, NC_000007.14:g.130432610_130432613del, NC_000007.14:g.130432611_130432613del, NC_000007.14:g.130432612_130432613del, NC_000007.14:g.130432613del, NC_000007.14:g.130432613dup, NC_000007.14:g.130432612_130432613dup, NC_000007.14:g.130432611_130432613dup, NC_000007.14:g.130432610_130432613dup, NC_000007.14:g.130432609_130432613dup, NC_000007.14:g.130432608_130432613dup, NC_000007.14:g.130432607_130432613dup, NC_000007.14:g.130432606_130432613dup, NC_000007.13:g.130072442_130072454del, NC_000007.13:g.130072443_130072454del, NC_000007.13:g.130072444_130072454del, NC_000007.13:g.130072445_130072454del, NC_000007.13:g.130072446_130072454del, NC_000007.13:g.130072447_130072454del, NC_000007.13:g.130072448_130072454del, NC_000007.13:g.130072449_130072454del, NC_000007.13:g.130072450_130072454del, NC_000007.13:g.130072451_130072454del, NC_000007.13:g.130072452_130072454del, NC_000007.13:g.130072453_130072454del, NC_000007.13:g.130072454del, NC_000007.13:g.130072454dup, NC_000007.13:g.130072453_130072454dup, NC_000007.13:g.130072452_130072454dup, NC_000007.13:g.130072451_130072454dup, NC_000007.13:g.130072450_130072454dup, NC_000007.13:g.130072449_130072454dup, NC_000007.13:g.130072448_130072454dup, NC_000007.13:g.130072447_130072454dup, NG_032164.2:g.13610_13622del, NG_032164.2:g.13611_13622del, NG_032164.2:g.13612_13622del, NG_032164.2:g.13613_13622del, NG_032164.2:g.13614_13622del, NG_032164.2:g.13615_13622del, NG_032164.2:g.13616_13622del, NG_032164.2:g.13617_13622del, NG_032164.2:g.13618_13622del, NG_032164.2:g.13619_13622del, NG_032164.2:g.13620_13622del, NG_032164.2:g.13621_13622del, NG_032164.2:g.13622del, NG_032164.2:g.13622dup, NG_032164.2:g.13621_13622dup, NG_032164.2:g.13620_13622dup, NG_032164.2:g.13619_13622dup, NG_032164.2:g.13618_13622dup, NG_032164.2:g.13617_13622dup, NG_032164.2:g.13616_13622dup, NG_032164.2:g.13615_13622dup, NW_003871065.1:g.88019_88031del, NW_003871065.1:g.88020_88031del, NW_003871065.1:g.88021_88031del, NW_003871065.1:g.88022_88031del, NW_003871065.1:g.88023_88031del, NW_003871065.1:g.88024_88031del, NW_003871065.1:g.88025_88031del, NW_003871065.1:g.88026_88031del, NW_003871065.1:g.88027_88031del, NW_003871065.1:g.88028_88031del, NW_003871065.1:g.88029_88031del, NW_003871065.1:g.88030_88031del, NW_003871065.1:g.88031del, NW_003871065.1:g.88031dup, NW_003871065.1:g.88030_88031dup, NW_003871065.1:g.88029_88031dup, NW_003871065.1:g.88028_88031dup, NW_003871065.1:g.88027_88031dup, NW_003871065.1:g.88026_88031dup, NW_003871065.1:g.88025_88031dup, NW_003871065.1:g.88024_88031dup

Select item 14913568726.

rs1491356872 has merged into rs782636525 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTCTTTTTTTTTTTTTTT,TTTTCTTTTTTTTTTTTTTTT,TTTTCTTTTTTTTTTTTTTTTT,TTTTT,TTTTTCTTTTTTTTTTTTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:130410040 (GRCh38)
7:130049881 (GRCh37)
Canonical SPDI:: NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTCTTTTTTTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130410029:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CEP41 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.25/2 (KOREAN)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000007.14:g.130410040_130410043del, NC_000007.14:g.130410041_130410043del, NC_000007.14:g.130410042_130410043del, NC_000007.14:g.130410043del, NC_000007.14:g.130410030_130410043T[14]CTTTTTTTTTTTTTTT[1], NC_000007.14:g.130410030_130410043T[14]CTTTTTTTTTTTTTTTT[1], NC_000007.14:g.130410030_130410043T[14]CTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.130410043dup, NC_000007.14:g.130410030_130410043T[15]CTTTTTTTTTTTTTTT[1], NC_000007.14:g.130410042_130410043dup, NC_000007.14:g.130410040_130410043dup, NC_000007.14:g.130410031_130410043dup, NC_000007.14:g.130410030_130410043dup, NC_000007.14:g.130410043_130410044insTTTTTTTTTTTTTTT, NC_000007.13:g.130049881_130049884del, NC_000007.13:g.130049882_130049884del, NC_000007.13:g.130049883_130049884del, NC_000007.13:g.130049884del, NC_000007.13:g.130049871_130049884T[14]CTTTTTTTTTTTTTTT[1], NC_000007.13:g.130049871_130049884T[14]CTTTTTTTTTTTTTTTT[1], NC_000007.13:g.130049871_130049884T[14]CTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.130049884dup, NC_000007.13:g.130049871_130049884T[15]CTTTTTTTTTTTTTTT[1], NC_000007.13:g.130049883_130049884dup, NC_000007.13:g.130049881_130049884dup, NC_000007.13:g.130049872_130049884dup, NC_000007.13:g.130049871_130049884dup, NC_000007.13:g.130049884_130049885insTTTTTTTTTTTTTTT, NG_032164.2:g.36178_36181del, NG_032164.2:g.36179_36181del, NG_032164.2:g.36180_36181del, NG_032164.2:g.36181del, NG_032164.2:g.36168_36181A[15]GAAAAAAAAAAAAAA[1], NG_032164.2:g.36168_36181A[16]GAAAAAAAAAAAAAA[1], NG_032164.2:g.36168_36181A[17]GAAAAAAAAAAAAAA[1], NG_032164.2:g.36181dup, NG_032164.2:g.36168_36181A[15]GAAAAAAAAAAAAAAA[1], NG_032164.2:g.36180_36181dup, NG_032164.2:g.36178_36181dup, NG_032164.2:g.36169_36181dup, NG_032164.2:g.36168_36181dup, NG_032164.2:g.36181_36182insAAAAAAAAAAAAAAA, NW_003871065.1:g.65458_65461del, NW_003871065.1:g.65459_65461del, NW_003871065.1:g.65460_65461del, NW_003871065.1:g.65461del, NW_003871065.1:g.65448_65461T[14]CTTTTTTTTTTTTTTT[1], NW_003871065.1:g.65448_65461T[14]CTTTTTTTTTTTTTTTT[1], NW_003871065.1:g.65448_65461T[14]CTTTTTTTTTTTTTTTTT[1], NW_003871065.1:g.65461dup, NW_003871065.1:g.65448_65461T[15]CTTTTTTTTTTTTTTT[1], NW_003871065.1:g.65460_65461dup, NW_003871065.1:g.65458_65461dup, NW_003871065.1:g.65449_65461dup, NW_003871065.1:g.65448_65461dup, NW_003871065.1:g.65461_65462insTTTTTTTTTTTTTTT

Select item 14911418047.

rs1491141804 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:130436642 (GRCh38)
7:130076484 (GRCh37)
Canonical SPDI:: NC_000007.14:130436642:A:AA
Gene:: CEP41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/1 (GnomAD)
HGVS:: NC_000007.14:g.130436643dup, NC_000007.13:g.130076484dup, NG_032164.2:g.9568dup, NW_003871065.1:g.92061dup

Select item 14910608938.

rs1491060893 has merged into rs71527964 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 7:130436654 (GRCh38)
7:130076495 (GRCh37)
Canonical SPDI:: NC_000007.14:130436643:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:130436643:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:130436643:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:130436643:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:130436643:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:130436643:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: CEP41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.130436654_130436657del, NC_000007.14:g.130436655_130436657del, NC_000007.14:g.130436656_130436657del, NC_000007.14:g.130436657del, NC_000007.14:g.130436657dup, NC_000007.14:g.130436656_130436657dup, NC_000007.13:g.130076495_130076498del, NC_000007.13:g.130076496_130076498del, NC_000007.13:g.130076497_130076498del, NC_000007.13:g.130076498del, NC_000007.13:g.130076498dup, NC_000007.13:g.130076497_130076498dup, NG_032164.2:g.9564_9567del, NG_032164.2:g.9565_9567del, NG_032164.2:g.9566_9567del, NG_032164.2:g.9567del, NG_032164.2:g.9567dup, NG_032164.2:g.9566_9567dup, NW_003871065.1:g.92072_92075del, NW_003871065.1:g.92073_92075del, NW_003871065.1:g.92074_92075del, NW_003871065.1:g.92075del, NW_003871065.1:g.92075dup, NW_003871065.1:g.92074_92075dup

Select item 14910572109.

rs1491057210 has merged into rs35795256 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:130420338 (GRCh38)
7:130060179 (GRCh37)
Canonical SPDI:: NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130420328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CEP41 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.130420338_130420351del, NC_000007.14:g.130420342_130420351del, NC_000007.14:g.130420343_130420351del, NC_000007.14:g.130420344_130420351del, NC_000007.14:g.130420346_130420351del, NC_000007.14:g.130420347_130420351del, NC_000007.14:g.130420348_130420351del, NC_000007.14:g.130420349_130420351del, NC_000007.14:g.130420350_130420351del, NC_000007.14:g.130420351del, NC_000007.14:g.130420351dup, NC_000007.14:g.130420350_130420351dup, NC_000007.14:g.130420349_130420351dup, NC_000007.14:g.130420348_130420351dup, NC_000007.14:g.130420346_130420351dup, NC_000007.14:g.130420344_130420351dup, NC_000007.13:g.130060179_130060192del, NC_000007.13:g.130060183_130060192del, NC_000007.13:g.130060184_130060192del, NC_000007.13:g.130060185_130060192del, NC_000007.13:g.130060187_130060192del, NC_000007.13:g.130060188_130060192del, NC_000007.13:g.130060189_130060192del, NC_000007.13:g.130060190_130060192del, NC_000007.13:g.130060191_130060192del, NC_000007.13:g.130060192del, NC_000007.13:g.130060192dup, NC_000007.13:g.130060191_130060192dup, NC_000007.13:g.130060190_130060192dup, NC_000007.13:g.130060189_130060192dup, NC_000007.13:g.130060187_130060192dup, NC_000007.13:g.130060185_130060192dup, NG_032164.2:g.25869_25882del, NG_032164.2:g.25873_25882del, NG_032164.2:g.25874_25882del, NG_032164.2:g.25875_25882del, NG_032164.2:g.25877_25882del, NG_032164.2:g.25878_25882del, NG_032164.2:g.25879_25882del, NG_032164.2:g.25880_25882del, NG_032164.2:g.25881_25882del, NG_032164.2:g.25882del, NG_032164.2:g.25882dup, NG_032164.2:g.25881_25882dup, NG_032164.2:g.25880_25882dup, NG_032164.2:g.25879_25882dup, NG_032164.2:g.25877_25882dup, NG_032164.2:g.25875_25882dup, NM_001257160.2:c.*1598_*1611del, NM_001257160.2:c.*1602_*1611del, NM_001257160.2:c.*1603_*1611del, NM_001257160.2:c.*1604_*1611del, NM_001257160.2:c.*1606_*1611del, NM_001257160.2:c.*1607_*1611del, NM_001257160.2:c.*1608_*1611del, NM_001257160.2:c.*1609_*1611del, NM_001257160.2:c.*1610_*1611del, NM_001257160.2:c.*1611del, NM_001257160.2:c.*1611dup, NM_001257160.2:c.*1610_*1611dup, NM_001257160.2:c.*1609_*1611dup, NM_001257160.2:c.*1608_*1611dup, NM_001257160.2:c.*1606_*1611dup, NM_001257160.2:c.*1604_*1611dup, NM_001257160.1:c.*1598_*1611del, NM_001257160.1:c.*1602_*1611del, NM_001257160.1:c.*1603_*1611del, NM_001257160.1:c.*1604_*1611del, NM_001257160.1:c.*1606_*1611del, NM_001257160.1:c.*1607_*1611del, NM_001257160.1:c.*1608_*1611del, NM_001257160.1:c.*1609_*1611del, NM_001257160.1:c.*1610_*1611del, NM_001257160.1:c.*1611del, NM_001257160.1:c.*1611dup, NM_001257160.1:c.*1610_*1611dup, NM_001257160.1:c.*1609_*1611dup, NM_001257160.1:c.*1608_*1611dup, NM_001257160.1:c.*1606_*1611dup, NM_001257160.1:c.*1604_*1611dup, NW_003871065.1:g.75756_75769del, NW_003871065.1:g.75760_75769del, NW_003871065.1:g.75761_75769del, NW_003871065.1:g.75762_75769del, NW_003871065.1:g.75764_75769del, NW_003871065.1:g.75765_75769del, NW_003871065.1:g.75766_75769del, NW_003871065.1:g.75767_75769del, NW_003871065.1:g.75768_75769del, NW_003871065.1:g.75769del, NW_003871065.1:g.75769dup, NW_003871065.1:g.75768_75769dup, NW_003871065.1:g.75767_75769dup, NW_003871065.1:g.75766_75769dup, NW_003871065.1:g.75764_75769dup, NW_003871065.1:g.75762_75769dup

Select item 149101070010.

rs1491010700 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:130397552 (GRCh38)
7:130037393 (GRCh37)
Canonical SPDI:: NC_000007.14:130397551:CT:
Gene:: CEP41 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000034/4 (GnomAD_exomes)
-=0.000037/4 (GnomAD)
HGVS:: NC_000007.14:g.130397552_130397553del, NC_000007.13:g.130037393_130037394del, NG_032164.2:g.48658_48659del, NM_018718.3:c.*1338_*1339del, NM_018718.2:c.*1338_*1339del, NR_046443.2:n.2434_2435del, NR_046443.1:n.2628_2629del, NM_001257158.2:c.*1338_*1339del, NM_001257158.1:c.*1338_*1339del, NM_001257159.2:c.*1338_*1339del, NM_001257159.1:c.*1338_*1339del, NW_003871065.1:g.52970_52971del, XM_011516709.4:c.*1338_*1339del, XM_011516709.3:c.*1338_*1339del, XM_011516709.2:c.*1338_*1339del, XM_011516709.1:c.*1338_*1339del, XM_024447004.2:c.*1338_*1339del, XM_024447004.1:c.*1338_*1339del, XM_047421054.1:c.*1338_*1339del, XM_047421053.1:c.*1338_*1339del, XM_047421055.1:c.*1338_*1339del

Select item 149094129311.

rs1490941293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:130435223 (GRCh38)
7:130075064 (GRCh37)
Canonical SPDI:: NC_000007.14:130435222:A:G
Gene:: CEP41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.130435223A>G, NC_000007.13:g.130075064A>G, NG_032164.2:g.10988T>C, NW_003871065.1:g.90641A>G

Select item 149082324212.

rs1490823242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:130401889 (GRCh38)
7:130041730 (GRCh37)
Canonical SPDI:: NC_000007.14:130401888:G:T
Gene:: CEP41 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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.130401889G>T, NC_000007.13:g.130041730G>T, NG_032164.2:g.44322C>A, NM_018718.3:c.634C>A, NM_018718.2:c.634C>A, NR_046443.2:n.608C>A, NR_046443.1:n.802C>A, NM_001257158.2:c.634C>A, NM_001257158.1:c.634C>A, NM_001257159.2:c.586C>A, NM_001257159.1:c.586C>A, NW_003871065.1:g.57307G>T, XM_011516709.4:c.529C>A, XM_011516709.3:c.529C>A, XM_011516709.2:c.529C>A, XM_011516709.1:c.529C>A, XM_024447004.2:c.595C>A, XM_024447004.1:c.595C>A, XM_047421054.1:c.529C>A, XM_047421053.1:c.679C>A, XM_047421055.1:c.679C>A, NP_061188.1:p.Leu212Ile, NP_001244087.1:p.Leu212Ile, NP_001244088.1:p.Leu196Ile, XP_011515011.1:p.Leu177Ile, XP_024302772.1:p.Leu199Ile, XP_047277010.1:p.Leu177Ile, XP_047277009.1:p.Leu227Ile, XP_047277011.1:p.Leu227Ile

Select item 149080751013.

rs1490807510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:130400594 (GRCh38)
7:130040435 (GRCh37)
Canonical SPDI:: NC_000007.14:130400593:T:C
Gene:: CEP41 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.130400594T>C, NC_000007.13:g.130040435T>C, NG_032164.2:g.45617A>G, NW_003871065.1:g.56012T>C

Select item 149074915914.

rs1490749159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:130419483 (GRCh38)
7:130059324 (GRCh37)
Canonical SPDI:: NC_000007.14:130419482:G:T
Gene:: CEP41 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000007.14:g.130419483G>T, NC_000007.13:g.130059324G>T, NG_032164.2:g.26728C>A, NM_001257160.2:c.*2457C>A, NM_001257160.1:c.*2457C>A, NW_003871065.1:g.74901G>T

Select item 149065766115.

rs1490657661 has merged into rs150874127 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:130402348 (GRCh38)
7:130042189 (GRCh37)
Canonical SPDI:: NC_000007.14:130402343:AAAAAAAAAA:AAAA,NC_000007.14:130402343:AAAAAAAAAA:AAAAAAAAA,NC_000007.14:130402343:AAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:130402343:AAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:130402343:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:130402343:AAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:130402343:AAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:130402343:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130402343:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130402343:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130402343:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:130402343:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CEP41 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130402348_130402353del, NC_000007.14:g.130402353del, NC_000007.14:g.130402353dup, NC_000007.14:g.130402352_130402353dup, NC_000007.14:g.130402351_130402353dup, NC_000007.14:g.130402350_130402353dup, NC_000007.14:g.130402349_130402353dup, NC_000007.14:g.130402353_130402354insAAAAAAAAAAAAA, NC_000007.14:g.130402353_130402354insAAAAAAAAAAAAAA, NC_000007.14:g.130402353_130402354insAAAAAAAAAAAAAAAA, NC_000007.14:g.130402353_130402354insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.130402353_130402354insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.130042189_130042194del, NC_000007.13:g.130042194del, NC_000007.13:g.130042194dup, NC_000007.13:g.130042193_130042194dup, NC_000007.13:g.130042192_130042194dup, NC_000007.13:g.130042191_130042194dup, NC_000007.13:g.130042190_130042194dup, NC_000007.13:g.130042194_130042195insAAAAAAAAAAAAA, NC_000007.13:g.130042194_130042195insAAAAAAAAAAAAAA, NC_000007.13:g.130042194_130042195insAAAAAAAAAAAAAAAA, NC_000007.13:g.130042194_130042195insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.130042194_130042195insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032164.2:g.43862_43867del, NG_032164.2:g.43867del, NG_032164.2:g.43867dup, NG_032164.2:g.43866_43867dup, NG_032164.2:g.43865_43867dup, NG_032164.2:g.43864_43867dup, NG_032164.2:g.43863_43867dup, NG_032164.2:g.43867_43868insTTTTTTTTTTTTT, NG_032164.2:g.43867_43868insTTTTTTTTTTTTTT, NG_032164.2:g.43867_43868insTTTTTTTTTTTTTTTT, NG_032164.2:g.43867_43868insTTTTTTTTTTTTTTTTTTTTTTTT, NG_032164.2:g.43867_43868insTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871065.1:g.57766_57771del, NW_003871065.1:g.57771del, NW_003871065.1:g.57771dup, NW_003871065.1:g.57770_57771dup, NW_003871065.1:g.57769_57771dup, NW_003871065.1:g.57768_57771dup, NW_003871065.1:g.57767_57771dup, NW_003871065.1:g.57771_57772insAAAAAAAAAAAAA, NW_003871065.1:g.57771_57772insAAAAAAAAAAAAAA, NW_003871065.1:g.57771_57772insAAAAAAAAAAAAAAAA, NW_003871065.1:g.57771_57772insAAAAAAAAAAAAAAAAAAAAAAAA, NW_003871065.1:g.57771_57772insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149058620716.

rs1490586207 has merged into rs138793861 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC [Show Flanks]
Chromosome:: 7:130419961 (GRCh38)
7:130059802 (GRCh37)
Canonical SPDI:: NC_000007.14:130419950:ACACACACACACACACACACAC:ACACACACAC,NC_000007.14:130419950:ACACACACACACACACACACAC:ACACACACACACAC,NC_000007.14:130419950:ACACACACACACACACACACAC:ACACACACACACACAC,NC_000007.14:130419950:ACACACACACACACACACACAC:ACACACACACACACACAC,NC_000007.14:130419950:ACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000007.14:130419950:ACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000007.14:130419950:ACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000007.14:130419950:ACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000007.14:130419950:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC
Gene:: CEP41 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
AC=0.04667/28 (NorthernSweden)
HGVS:: NC_000007.14:g.130419951AC[5], NC_000007.14:g.130419951AC[7], NC_000007.14:g.130419951AC[8], NC_000007.14:g.130419951AC[9], NC_000007.14:g.130419951AC[10], NC_000007.14:g.130419951AC[12], NC_000007.14:g.130419951AC[13], NC_000007.14:g.130419951AC[14], NC_000007.14:g.130419951AC[15], NC_000007.13:g.130059792AC[5], NC_000007.13:g.130059792AC[7], NC_000007.13:g.130059792AC[8], NC_000007.13:g.130059792AC[9], NC_000007.13:g.130059792AC[10], NC_000007.13:g.130059792AC[12], NC_000007.13:g.130059792AC[13], NC_000007.13:g.130059792AC[14], NC_000007.13:g.130059792AC[15], NG_032164.2:g.26239GT[5], NG_032164.2:g.26239GT[7], NG_032164.2:g.26239GT[8], NG_032164.2:g.26239GT[9], NG_032164.2:g.26239GT[10], NG_032164.2:g.26239GT[12], NG_032164.2:g.26239GT[13], NG_032164.2:g.26239GT[14], NG_032164.2:g.26239GT[15], NM_001257160.2:c.*1968GT[5], NM_001257160.2:c.*1968GT[7], NM_001257160.2:c.*1968GT[8], NM_001257160.2:c.*1968GT[9], NM_001257160.2:c.*1968GT[10], NM_001257160.2:c.*1968GT[12], NM_001257160.2:c.*1968GT[13], NM_001257160.2:c.*1968GT[14], NM_001257160.2:c.*1968GT[15], NM_001257160.1:c.*1968GT[5], NM_001257160.1:c.*1968GT[7], NM_001257160.1:c.*1968GT[8], NM_001257160.1:c.*1968GT[9], NM_001257160.1:c.*1968GT[10], NM_001257160.1:c.*1968GT[12], NM_001257160.1:c.*1968GT[13], NM_001257160.1:c.*1968GT[14], NM_001257160.1:c.*1968GT[15], NW_003871065.1:g.75369AC[5], NW_003871065.1:g.75369AC[7], NW_003871065.1:g.75369AC[8], NW_003871065.1:g.75369AC[9], NW_003871065.1:g.75369AC[10], NW_003871065.1:g.75369AC[12], NW_003871065.1:g.75369AC[13], NW_003871065.1:g.75369AC[14], NW_003871065.1:g.75369AC[15]

Select item 149054838517.

rs1490548385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:130403324 (GRCh38)
7:130043165 (GRCh37)
Canonical SPDI:: NC_000007.14:130403323:C:T
Gene:: CEP41 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.130403324C>T, NC_000007.13:g.130043165C>T, NG_032164.2:g.42887G>A, NW_003871065.1:g.58742C>T

Select item 149035671218.

rs1490356712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:130442433 (GRCh38)
7:130082274 (GRCh37)
Canonical SPDI:: NC_000007.14:130442432:T:A,NC_000007.14:130442432:T:C
Gene:: CEP41 (Varview), LOC105375505 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
C=0.000044/6 (GnomAD_exomes)
C=0.000064/17 (TOPMED)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.130442433T>A, NC_000007.14:g.130442433T>C, NC_000007.13:g.130082274T>A, NC_000007.13:g.130082274T>C, NG_032164.2:g.3778A>T, NG_032164.2:g.3778A>G, NW_003871065.1:g.97851T>A, NW_003871065.1:g.97851T>C, XR_927971.3:n.680T>A, XR_927971.3:n.680T>C, XR_927971.2:n.843T>A, XR_927971.2:n.843T>C, XR_927971.1:n.458T>A, XR_927971.1:n.458T>C, XR_927973.3:n.680T>A, XR_927973.3:n.680T>C, XR_927973.2:n.843T>A, XR_927973.2:n.843T>C, XR_927973.1:n.458T>A, XR_927973.1:n.458T>C, XR_927972.3:n.680T>A, XR_927972.3:n.680T>C, XR_927972.2:n.843T>A, XR_927972.2:n.843T>C, XR_927972.1:n.458T>A, XR_927972.1:n.458T>C

Select item 149033236519.

rs1490332365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:130428788 (GRCh38)
7:130068629 (GRCh37)
Canonical SPDI:: NC_000007.14:130428787:T:C
Gene:: CEP41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000007.14:g.130428788T>C, NC_000007.13:g.130068629T>C, NG_032164.2:g.17423A>G, NW_003871065.1:g.84206T>C

Select item 149024262920.

rs1490242629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:130429589 (GRCh38)
7:130069430 (GRCh37)
Canonical SPDI:: NC_000007.14:130429588:C:G,NC_000007.14:130429588:C:T
Gene:: CEP41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.130429589C>G, NC_000007.14:g.130429589C>T, NC_000007.13:g.130069430C>G, NC_000007.13:g.130069430C>T, NG_032164.2:g.16622G>C, NG_032164.2:g.16622G>A, NW_003871065.1:g.85007C>G, NW_003871065.1:g.85007C>T

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