SNP Links for Gene (Select 79576) - SNP

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Select item 14911358101.

rs1491135810 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:119944041 (GRCh38)
X:119078004 (GRCh37)
Canonical SPDI:: NC_000023.11:119944040:AT:
Gene:: NKAP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.119944041_119944042del, NC_000023.10:g.119078004_119078005del, NG_021260.1:g.4731_4732del

Select item 14904690802.

rs1490469080 has merged into rs759537480 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTATTA>-,TTA,TTATTATTA [Show Flanks]
Chromosome:: X:119928905 (GRCh38)
X:119062868 (GRCh37)
Canonical SPDI:: NC_000023.11:119928895:TTATTATTATTATTA:TTATTATTA,NC_000023.11:119928895:TTATTATTATTATTA:TTATTATTATTA,NC_000023.11:119928895:TTATTATTATTATTA:TTATTATTATTATTATTA
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTATTATTATTA=0./0 (ALFA)
TTA=0./0 (TWINSUK)
-=0.000015/4 (TOPMED)
TTA=0.00003/3 (GnomAD)
TTA=0.000346/1 (ALSPAC)
HGVS:: NC_000023.11:g.119928896TTA[3], NC_000023.11:g.119928896TTA[4], NC_000023.11:g.119928896TTA[6], NC_000023.10:g.119062859TTA[3], NC_000023.10:g.119062859TTA[4], NC_000023.10:g.119062859TTA[6], NG_021260.1:g.19863TAA[3], NG_021260.1:g.19863TAA[4], NG_021260.1:g.19863TAA[6]

Select item 14901718013.

rs1490171801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:119943821 (GRCh38)
X:119077784 (GRCh37)
Canonical SPDI:: NC_000023.11:119943820:G:T
Gene:: NKAP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.119943821G>T, NC_000023.10:g.119077784G>T, NG_021260.1:g.4952C>A

Select item 14895996634.

rs1489599663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119939520 (GRCh38)
X:119073483 (GRCh37)
Canonical SPDI:: NC_000023.11:119939519:C:T
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.119939520C>T, NC_000023.10:g.119073483C>T, NG_021260.1:g.9253G>A

Select item 14895271055.

rs1489527105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119934264 (GRCh38)
X:119068227 (GRCh37)
Canonical SPDI:: NC_000023.11:119934263:C:T
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.119934264C>T, NC_000023.10:g.119068227C>T, NG_021260.1:g.14509G>A

Select item 14893799366.

rs1489379936 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: X:119927087 (GRCh38)
X:119061050 (GRCh37)
Canonical SPDI:: NC_000023.11:119927086:CC:
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00336/15 (ALFA)
-=0.00018/2 (TOMMO)
HGVS:: NC_000023.11:g.119927087_119927088del, NC_000023.10:g.119061050_119061051del, NG_021260.1:g.21685_21686del

Select item 14893511847.

rs1489351184 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCAGTTGTGGTGGTGAG [Show Flanks]
Chromosome:: X:119930993 (GRCh38)
X:119064957 (GRCh37)
Canonical SPDI:: NC_000023.11:119930993:AG:AGCCAGTTGTGGTGGTGAG
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGCCAGTTGTGGTGGTGAG=0.0002/1 (ALFA)
HGVS:: NC_000023.11:g.119930995_119930996insCCAGTTGTGGTGGTGAG, NC_000023.10:g.119064958_119064959insCCAGTTGTGGTGGTGAG, NG_021260.1:g.17779_17780insCACCACCACAACTGGCT

Select item 14892074368.

rs1489207436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:119926105 (GRCh38)
X:119060068 (GRCh37)
Canonical SPDI:: NC_000023.11:119926104:C:G,NC_000023.11:119926104:C:T
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/3 (GnomAD)
HGVS:: NC_000023.11:g.119926105C>G, NC_000023.11:g.119926105C>T, NC_000023.10:g.119060068C>G, NC_000023.10:g.119060068C>T, NG_021260.1:g.22668G>C, NG_021260.1:g.22668G>A

Select item 14885019709.

rs1488501970 has merged into rs201092487 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT [Show Flanks]
Chromosome:: X:119941614 (GRCh38)
X:119075577 (GRCh37)
Canonical SPDI:: NC_000023.11:119941612:TCTCT:T,NC_000023.11:119941612:TCTCT:TCT
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119941614_119941617del, NC_000023.11:g.119941614CT[1], NC_000023.10:g.119075577_119075580del, NC_000023.10:g.119075577CT[1], NG_021260.1:g.7157_7160del, NG_021260.1:g.7157GA[1]

Select item 148840269210.

rs1488402692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: X:119925969 (GRCh38)
X:119059932 (GRCh37)
Canonical SPDI:: NC_000023.11:119925968:A:C,NC_000023.11:119925968:A:T
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00008/1 (GnomAD)
T=0.00216/45 (TOMMO)
T=0.01975/56 (KOREAN)
HGVS:: NC_000023.11:g.119925969A>C, NC_000023.11:g.119925969A>T, NC_000023.10:g.119059932A>C, NC_000023.10:g.119059932A>T, NG_021260.1:g.22804T>G, NG_021260.1:g.22804T>A

Select item 148836812911.

rs1488368129 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119929130 (GRCh38)
X:119063093 (GRCh37)
Canonical SPDI:: NC_000023.11:119929129:A:G
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119929130A>G, NC_000023.10:g.119063093A>G, NG_021260.1:g.19643T>C

Select item 148827887512.

rs1488278875 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:119926641 (GRCh38)
X:119060604 (GRCh37)
Canonical SPDI:: NC_000023.11:119926640:A:C
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.119926641A>C, NC_000023.10:g.119060604A>C, NG_021260.1:g.22132T>G

Select item 148811952613.

rs1488119526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119941278 (GRCh38)
X:119075241 (GRCh37)
Canonical SPDI:: NC_000023.11:119941277:T:C
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.119941278T>C, NC_000023.10:g.119075241T>C, NG_021260.1:g.7495A>G

Select item 148789393014.

rs1487893930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119933617 (GRCh38)
X:119067580 (GRCh37)
Canonical SPDI:: NC_000023.11:119933616:T:C
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.119933617T>C, NC_000023.10:g.119067580T>C, NG_021260.1:g.15156A>G

Select item 148772051815.

rs1487720518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:119930729 (GRCh38)
X:119064692 (GRCh37)
Canonical SPDI:: NC_000023.11:119930728:A:T
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.119930729A>T, NC_000023.10:g.119064692A>T, NG_021260.1:g.18044T>A

Select item 148758701616.

rs1487587016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:119938613 (GRCh38)
X:119072576 (GRCh37)
Canonical SPDI:: NC_000023.11:119938612:C:A,NC_000023.11:119938612:C:G
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0004/2 (ALFA)
HGVS:: NC_000023.11:g.119938613C>A, NC_000023.11:g.119938613C>G, NC_000023.10:g.119072576C>A, NC_000023.10:g.119072576C>G, NG_021260.1:g.10160G>T, NG_021260.1:g.10160G>C

Select item 148754897017.

rs1487548970 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>- [Show Flanks]
Chromosome:: X:119929834 (GRCh38)
X:119063797 (GRCh37)
Canonical SPDI:: NC_000023.11:119929830:ATATATA:ATA
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0.000071/1 (ALFA)
-=0.000038/10 (TOPMED)
-=0.000067/7 (GnomAD)
HGVS:: NC_000023.11:g.119929832TA[1], NC_000023.10:g.119063795TA[1], NG_021260.1:g.18937AT[1]

Select item 148749833118.

rs1487498331 has merged into rs199671941 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: X:119931348 (GRCh38)
X:119065311 (GRCh37)
Canonical SPDI:: NC_000023.11:119931347:AAAAAAAAA:AAAAAAAA,NC_000023.11:119931347:AAAAAAAAA:AAAAAAAAAA
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.041642/699 (ALFA)
-=0.00009/1 (TOMMO)
-=0.05/2 (GENOME_DK)
-=0.05307/200 (1000Genomes)
-=0.078174/20692 (TOPMED)
-=0.110841/411 (TWINSUK)
-=0.119072/344 (ALSPAC)
HGVS:: NC_000023.11:g.119931356del, NC_000023.11:g.119931356dup, NC_000023.10:g.119065319del, NC_000023.10:g.119065319dup, NG_021260.1:g.17425del, NG_021260.1:g.17425dup

Select item 148741919019.

rs1487419190 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGT [Show Flanks]
Chromosome:: X:119924693 (GRCh38)
X:119058657 (GRCh37)
Canonical SPDI:: NC_000023.11:119924693:T:TTGT
Gene:: NKAP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.119924694_119924695insTGT, NC_000023.10:g.119058657_119058658insTGT, NG_021260.1:g.24079_24080insCAA, NM_024528.4:c.*526_*527insCAA

Select item 148698426520.

rs1486984265 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119929490 (GRCh38)
X:119063453 (GRCh37)
Canonical SPDI:: NC_000023.11:119929489:T:C
Gene:: NKAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.119929490T>C, NC_000023.10:g.119063453T>C, NG_021260.1:g.19283A>G

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