SNP Links for Gene (Select 3071) - SNP

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Select item 14913863691.

rs1491386369 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 12:54498399 (GRCh38)
12:54892184 (GRCh37)
Canonical SPDI:: NC_000012.12:54498399:T:TTGTGTGTGTGTGTGT
Gene:: NCKAP1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.54498400_54498401insTGTGTGTGTGTGTGT, NC_000012.11:g.54892184_54892185insTGTGTGTGTGTGTGT

Select item 14913039862.

rs1491303986 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:54519892 (GRCh38)
12:54913677 (GRCh37)
Canonical SPDI:: NC_000012.12:54519892::A
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54519892_54519893insA, NC_000012.11:g.54913676_54913677insA

Select item 14911419563.

rs1491141956 has merged into rs34410189 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 12:54521900 (GRCh38)
12:54915684 (GRCh37)
Canonical SPDI:: NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:54521886:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000012.12:g.54521888GT[6], NC_000012.12:g.54521888GT[7], NC_000012.12:g.54521888GT[8], NC_000012.12:g.54521888GT[9], NC_000012.12:g.54521888GT[10], NC_000012.12:g.54521888GT[11], NC_000012.12:g.54521888GT[12], NC_000012.12:g.54521888GT[13], NC_000012.12:g.54521888GT[15], NC_000012.12:g.54521888GT[16], NC_000012.12:g.54521888GT[17], NC_000012.12:g.54521888GT[18], NC_000012.12:g.54521888GT[19], NC_000012.12:g.54521888GT[20], NC_000012.12:g.54521888GT[21], NC_000012.11:g.54915672GT[6], NC_000012.11:g.54915672GT[7], NC_000012.11:g.54915672GT[8], NC_000012.11:g.54915672GT[9], NC_000012.11:g.54915672GT[10], NC_000012.11:g.54915672GT[11], NC_000012.11:g.54915672GT[12], NC_000012.11:g.54915672GT[13], NC_000012.11:g.54915672GT[15], NC_000012.11:g.54915672GT[16], NC_000012.11:g.54915672GT[17], NC_000012.11:g.54915672GT[18], NC_000012.11:g.54915672GT[19], NC_000012.11:g.54915672GT[20], NC_000012.11:g.54915672GT[21]

Select item 14910873974.

rs1491087397 has merged into rs71070822 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:54496996 (GRCh38)
12:54890780 (GRCh37)
Canonical SPDI:: NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54496992:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NCKAP1L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.54496996_54497009del, NC_000012.12:g.54496998_54497009del, NC_000012.12:g.54497001_54497009del, NC_000012.12:g.54497006_54497009del, NC_000012.12:g.54497007_54497009del, NC_000012.12:g.54497008_54497009del, NC_000012.12:g.54497009del, NC_000012.12:g.54497009dup, NC_000012.12:g.54497008_54497009dup, NC_000012.12:g.54497007_54497009dup, NC_000012.12:g.54497006_54497009dup, NC_000012.12:g.54497001_54497009dup, NC_000012.12:g.54497000_54497009dup, NC_000012.12:g.54497009_54497010insAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.54890780_54890793del, NC_000012.11:g.54890782_54890793del, NC_000012.11:g.54890785_54890793del, NC_000012.11:g.54890790_54890793del, NC_000012.11:g.54890791_54890793del, NC_000012.11:g.54890792_54890793del, NC_000012.11:g.54890793del, NC_000012.11:g.54890793dup, NC_000012.11:g.54890792_54890793dup, NC_000012.11:g.54890791_54890793dup, NC_000012.11:g.54890790_54890793dup, NC_000012.11:g.54890785_54890793dup, NC_000012.11:g.54890784_54890793dup, NC_000012.11:g.54890793_54890794insAAAAAAAAAAAAAAAAAAAAAA

Select item 14910671215.

rs1491067121 has merged into rs59196940 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:54510687 (GRCh38)
12:54904471 (GRCh37)
Canonical SPDI:: NC_000012.12:54510676:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:54510676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:54510676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:54510676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:54510676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:54510676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:54510676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:54510676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:54510676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:54510676:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.54510687_54510693del, NC_000012.12:g.54510688_54510693del, NC_000012.12:g.54510691_54510693del, NC_000012.12:g.54510692_54510693del, NC_000012.12:g.54510693del, NC_000012.12:g.54510693dup, NC_000012.12:g.54510692_54510693dup, NC_000012.12:g.54510691_54510693dup, NC_000012.12:g.54510689_54510693dup, NC_000012.12:g.54510688_54510693dup, NC_000012.11:g.54904471_54904477del, NC_000012.11:g.54904472_54904477del, NC_000012.11:g.54904475_54904477del, NC_000012.11:g.54904476_54904477del, NC_000012.11:g.54904477del, NC_000012.11:g.54904477dup, NC_000012.11:g.54904476_54904477dup, NC_000012.11:g.54904475_54904477dup, NC_000012.11:g.54904473_54904477dup, NC_000012.11:g.54904472_54904477dup

Select item 14910294186.

rs1491029418 has merged into rs10686138 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:54519442 (GRCh38)
12:54913226 (GRCh37)
Canonical SPDI:: NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.4445/2226 (1000Genomes)
HGVS:: NC_000012.12:g.54519442_54519450del, NC_000012.12:g.54519443_54519450del, NC_000012.12:g.54519444_54519450del, NC_000012.12:g.54519445_54519450del, NC_000012.12:g.54519446_54519450del, NC_000012.12:g.54519447_54519450del, NC_000012.12:g.54519448_54519450del, NC_000012.12:g.54519449_54519450del, NC_000012.12:g.54519450del, NC_000012.12:g.54519450dup, NC_000012.12:g.54519449_54519450dup, NC_000012.12:g.54519448_54519450dup, NC_000012.12:g.54519447_54519450dup, NC_000012.12:g.54519446_54519450dup, NC_000012.12:g.54519445_54519450dup, NC_000012.12:g.54519444_54519450dup, NC_000012.12:g.54519441_54519450dup, NC_000012.12:g.54519439_54519450dup, NC_000012.12:g.54519438_54519450dup, NC_000012.12:g.54519436_54519450dup, NC_000012.11:g.54913226_54913234del, NC_000012.11:g.54913227_54913234del, NC_000012.11:g.54913228_54913234del, NC_000012.11:g.54913229_54913234del, NC_000012.11:g.54913230_54913234del, NC_000012.11:g.54913231_54913234del, NC_000012.11:g.54913232_54913234del, NC_000012.11:g.54913233_54913234del, NC_000012.11:g.54913234del, NC_000012.11:g.54913234dup, NC_000012.11:g.54913233_54913234dup, NC_000012.11:g.54913232_54913234dup, NC_000012.11:g.54913231_54913234dup, NC_000012.11:g.54913230_54913234dup, NC_000012.11:g.54913229_54913234dup, NC_000012.11:g.54913228_54913234dup, NC_000012.11:g.54913225_54913234dup, NC_000012.11:g.54913223_54913234dup, NC_000012.11:g.54913222_54913234dup, NC_000012.11:g.54913220_54913234dup

Select item 14910262407.

rs1491026240 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT [Show Flanks]
Chromosome:: 12:54514000 (GRCh38)
12:54907785 (GRCh37)
Canonical SPDI:: NC_000012.12:54514000:T:TGTAT
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTAT=0./0 (ALFA)
TGTA=0.000008/1 (GnomAD)
TGTA=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.54514001_54514002insGTAT, NC_000012.11:g.54907785_54907786insGTAT

Select item 14909118188.

rs1490911818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:54535861 (GRCh38)
12:54929645 (GRCh37)
Canonical SPDI:: NC_000012.12:54535860:T:C
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.54535861T>C, NC_000012.11:g.54929645T>C

Select item 14908976599.

rs1490897659 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:54535089 (GRCh38)
12:54928874 (GRCh37)
Canonical SPDI:: NC_000012.12:54535089::A
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.54535089_54535090insA, NC_000012.11:g.54928873_54928874insA

Select item 149084550310.

rs1490845503 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:54534686 (GRCh38)
12:54928470 (GRCh37)
Canonical SPDI:: NC_000012.12:54534685:A:G
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.54534686A>G, NC_000012.11:g.54928470A>G

Select item 149074182311.

rs1490741823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:54511448 (GRCh38)
12:54905232 (GRCh37)
Canonical SPDI:: NC_000012.12:54511447:C:T
Gene:: NCKAP1L (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_000012.12:g.54511448C>T, NC_000012.11:g.54905232C>T

Select item 149071928812.

rs1490719288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:54500509 (GRCh38)
12:54894293 (GRCh37)
Canonical SPDI:: NC_000012.12:54500508:T:C
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000212/4 (TOMMO)
HGVS:: NC_000012.12:g.54500509T>C, NC_000012.11:g.54894293T>C

Select item 149070405313.

rs1490704053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:54496077 (GRCh38)
12:54889861 (GRCh37)
Canonical SPDI:: NC_000012.12:54496076:C:T
Gene:: NCKAP1L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.54496077C>T, NC_000012.11:g.54889861C>T

Select item 149063592914.

rs1490635929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:54533661 (GRCh38)
12:54927445 (GRCh37)
Canonical SPDI:: NC_000012.12:54533660:G:C
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.54533661G>C, NC_000012.11:g.54927445G>C

Select item 149060141915.

rs1490601419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:54527792 (GRCh38)
12:54921576 (GRCh37)
Canonical SPDI:: NC_000012.12:54527791:A:C
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.54527792A>C, NC_000012.11:g.54921576A>C

Select item 149060078516.

rs1490600785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:54496682 (GRCh38)
12:54890466 (GRCh37)
Canonical SPDI:: NC_000012.12:54496681:A:T
Gene:: NCKAP1L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54496682A>T, NC_000012.11:g.54890466A>T

Select item 149056234217.

rs1490562342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:54512002 (GRCh38)
12:54905786 (GRCh37)
Canonical SPDI:: NC_000012.12:54512001:C:T
Gene:: NCKAP1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54512002C>T, NC_000012.11:g.54905786C>T, NM_005337.5:c.838C>T, NM_005337.4:c.838C>T, NM_001184976.2:c.688C>T, NM_001184976.1:c.688C>T

Select item 149047476618.

rs1490474766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:54515622 (GRCh38)
12:54909406 (GRCh37)
Canonical SPDI:: NC_000012.12:54515621:G:T
Gene:: NCKAP1L (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_000012.12:g.54515622G>T, NC_000012.11:g.54909406G>T

Select item 149042262519.

rs1490422625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:54513237 (GRCh38)
12:54907021 (GRCh37)
Canonical SPDI:: NC_000012.12:54513236:G:T
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.54513237G>T, NC_000012.11:g.54907021G>T

Select item 149042104920.

rs1490421049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:54536433 (GRCh38)
12:54930217 (GRCh37)
Canonical SPDI:: NC_000012.12:54536432:G:A
Gene:: NCKAP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.54536433G>A, NC_000012.11:g.54930217G>A

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