SNP Links for Gene (Select 149992) - SNP

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Select item 14915767951.

rs1491576795 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 21:13049660 (GRCh38)
21:14421981 (GRCh37)
Canonical SPDI:: NC_000021.9:13049657:ATAT:AT
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000016/2 (GnomAD)
HGVS:: NC_000021.9:g.13049658AT[1], NC_000021.8:g.14421979AT[1]

Select item 14915445452.

rs1491544545 has merged into rs1038163273 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 21:13072260 (GRCh38)
21:14444581 (GRCh37)
Canonical SPDI:: NC_000021.9:13072253:AAAAAAAA:AAAAAA,NC_000021.9:13072253:AAAAAAAA:AAAAAAA,NC_000021.9:13072253:AAAAAAAA:AAAAAAAAA
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.00046/8 (TOMMO)
HGVS:: NC_000021.9:g.13072260_13072261del, NC_000021.9:g.13072261del, NC_000021.9:g.13072261dup, NC_000021.8:g.14444581_14444582del, NC_000021.8:g.14444582del, NC_000021.8:g.14444582dup

Select item 14915360383.

rs1491536038 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA [Show Flanks]
Chromosome:: 21:13079430 (GRCh38)
21:14451752 (GRCh37)
Canonical SPDI:: NC_000021.9:13079430::A,NC_000021.9:13079430::AA,NC_000021.9:13079430::AAA
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000021.9:g.13079430_13079431insA, NC_000021.9:g.13079430_13079431insAA, NC_000021.9:g.13079430_13079431insAAA, NC_000021.8:g.14451751_14451752insA, NC_000021.8:g.14451751_14451752insAA, NC_000021.8:g.14451751_14451752insAAA

Select item 14914992134.

rs1491499213 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 21:13049746 (GRCh38)
21:14422067 (GRCh37)
Canonical SPDI:: NC_000021.9:13049744:ATA:A
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.13049746_13049747del, NC_000021.8:g.14422067_14422068del

Select item 14914942065.

rs1491494206 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 21:13051644 (GRCh38)
21:14423965 (GRCh37)
Canonical SPDI:: NC_000021.9:13051643:CA:
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000021.9:g.13051644_13051645del, NC_000021.8:g.14423965_14423966del

Select item 14914916376.

rs1491491637 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 21:13079431 (GRCh38)
21:14451752 (GRCh37)
Canonical SPDI:: NC_000021.9:13079430:TA:
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000021.9:g.13079431_13079432del, NC_000021.8:g.14451752_14451753del

Select item 14914787617.

rs1491478761 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 21:13088941 (GRCh38)
21:14461262 (GRCh37)
Canonical SPDI:: NC_000021.9:13088940:GT:
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000253/3 (ALFA)
-=0.000055/7 (GnomAD)
HGVS:: NC_000021.9:g.13088941_13088942del, NC_000021.8:g.14461262_14461263del

Select item 14913609538.

rs1491360953 [Homo sapiens]

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

Select item 14912691759.

rs1491269175 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 21:13079430 (GRCh38)
21:14451751 (GRCh37)
Canonical SPDI:: NC_000021.9:13079429:TT:
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000021.9:g.13079430_13079431del, NC_000021.8:g.14451751_14451752del

Select item 149118261610.

rs1491182616 [Homo sapiens]

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

Select item 149117050211.

rs1491170502 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 21:13039511 (GRCh38)
21:14411833 (GRCh37)
Canonical SPDI:: NC_000021.9:13039511:G:GG
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000021.9:g.13039512dup, NC_000021.8:g.14411833dup

Select item 149114721612.

rs1491147216 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 21:13039512 (GRCh38)
21:14411833 (GRCh37)
Canonical SPDI:: NC_000021.9:13039510:AGA:A
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00894/106 (ALFA)
-=0.00087/14 (TOMMO)
-=0.00179/1 (NorthernSweden)
HGVS:: NC_000021.9:g.13039512_13039513del, NC_000021.8:g.14411833_14411834del

Select item 149098725913.

rs1490987259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 21:13074469 (GRCh38)
21:14446790 (GRCh37)
Canonical SPDI:: NC_000021.9:13074468:C:A,NC_000021.9:13074468:C:G,NC_000021.9:13074468:C:T
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000021.9:g.13074469C>A, NC_000021.9:g.13074469C>G, NC_000021.9:g.13074469C>T, NC_000021.8:g.14446790C>A, NC_000021.8:g.14446790C>G, NC_000021.8:g.14446790C>T

Select item 149097332714.

rs1490973327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:13042942 (GRCh38)
21:14415263 (GRCh37)
Canonical SPDI:: NC_000021.9:13042941:T:C
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000016/2 (GnomAD)
HGVS:: NC_000021.9:g.13042942T>C, NC_000021.8:g.14415263T>C, NR_026916.1:n.538T>C, NM_153773.1:c.-85T>C

Select item 149096013415.

rs1490960134 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:13061707 (GRCh38)
21:14434028 (GRCh37)
Canonical SPDI:: NC_000021.9:13061706:A:G
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.13061707A>G, NC_000021.8:g.14434028A>G

Select item 149092872516.

rs1490928725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:13080970 (GRCh38)
21:14453291 (GRCh37)
Canonical SPDI:: NC_000021.9:13080969:A:C
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.13080970A>C, NC_000021.8:g.14453291A>C

Select item 149092409617.

rs1490924096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:13062701 (GRCh38)
21:14435022 (GRCh37)
Canonical SPDI:: NC_000021.9:13062700:G:A,NC_000021.9:13062700:G:C
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000032/4 (GnomAD)
A=0.00006/1 (TOMMO)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000021.9:g.13062701G>A, NC_000021.9:g.13062701G>C, NC_000021.8:g.14435022G>A, NC_000021.8:g.14435022G>C

Select item 149091859218.

rs1490918592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:13105622 (GRCh38)
21:14477943 (GRCh37)
Canonical SPDI:: NC_000021.9:13105621:C:T
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000023/3 (GnomAD)
T=0.000038/1 (TOMMO)
T=0.00006/16 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000021.9:g.13105622C>T, NC_000021.8:g.14477943C>T

Select item 149091150019.

rs1490911500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:13048531 (GRCh38)
21:14420852 (GRCh37)
Canonical SPDI:: NC_000021.9:13048530:C:T
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0045/20 (ALFA)
HGVS:: NC_000021.9:g.13048531C>T, NC_000021.8:g.14420852C>T

Select item 149089601520.

rs1490896015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 21:13065821 (GRCh38)
21:14438142 (GRCh37)
Canonical SPDI:: NC_000021.9:13065820:A:G,NC_000021.9:13065820:A:T
Gene:: ANKRD30BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000021.9:g.13065821A>G, NC_000021.9:g.13065821A>T, NC_000021.8:g.14438142A>G, NC_000021.8:g.14438142A>T

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