SNP Links for Gene (Select 441459) - SNP

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Select item 14915681671.

rs1491568167 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:33542378 (GRCh38)
9:33542377 (GRCh37)
Canonical SPDI:: NC_000009.12:33542378::C
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000022/1 (GnomAD)
HGVS:: NC_000009.12:g.33542378_33542379insC, NC_000009.11:g.33542376_33542377insC

Select item 14914108292.

rs1491410829 has merged into rs34380811 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:33542384 (GRCh38)
9:33542382 (GRCh37)
Canonical SPDI:: NC_000009.12:33542377:TTTTTTTTTTTTTT:TTTTTT,NC_000009.12:33542377:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:33542377:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:33542377:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:33542377:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:33542377:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:33542377:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:33542377:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.33542384_33542391del, NC_000009.12:g.33542389_33542391del, NC_000009.12:g.33542390_33542391del, NC_000009.12:g.33542391del, NC_000009.12:g.33542391dup, NC_000009.12:g.33542390_33542391dup, NC_000009.12:g.33542389_33542391dup, NC_000009.12:g.33542388_33542391dup, NC_000009.11:g.33542382_33542389del, NC_000009.11:g.33542387_33542389del, NC_000009.11:g.33542388_33542389del, NC_000009.11:g.33542389del, NC_000009.11:g.33542389dup, NC_000009.11:g.33542388_33542389dup, NC_000009.11:g.33542387_33542389dup, NC_000009.11:g.33542386_33542389dup

Select item 14911905223.

rs1491190522 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 9:33530547 (GRCh38)
9:33530546 (GRCh37)
Canonical SPDI:: NC_000009.12:33530547::C,NC_000009.12:33530547::G
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.33530547_33530548insC, NC_000009.12:g.33530547_33530548insG, NC_000009.11:g.33530545_33530546insC, NC_000009.11:g.33530545_33530546insG

Select item 14911248524.

rs1491124852 has merged into rs3033567 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 9:33571231 (GRCh38)
9:33571229 (GRCh37)
Canonical SPDI:: NC_000009.12:33571223:TTTTTTTTTTT:TTTTTTT,NC_000009.12:33571223:TTTTTTTTTTT:TTTTTTTTT,NC_000009.12:33571223:TTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:33571223:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:33571223:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.0231/131 (ALFA)
-=0.0314/121 (ALSPAC)
-=0.156/319 (1000Genomes)
HGVS:: NC_000009.12:g.33571231_33571234del, NC_000009.12:g.33571233_33571234del, NC_000009.12:g.33571234del, NC_000009.12:g.33571234dup, NC_000009.12:g.33571233_33571234dup, NC_000009.11:g.33571229_33571232del, NC_000009.11:g.33571231_33571232del, NC_000009.11:g.33571232del, NC_000009.11:g.33571232dup, NC_000009.11:g.33571231_33571232dup

Select item 14910756785.

rs1491075678 has merged into rs34371607 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:33530538 (GRCh38)
9:33530536 (GRCh37)
Canonical SPDI:: NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:33530527:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.4016/2011 (1000Genomes)
HGVS:: NC_000009.12:g.33530538_33530548del, NC_000009.12:g.33530539_33530548del, NC_000009.12:g.33530543_33530548del, NC_000009.12:g.33530544_33530548del, NC_000009.12:g.33530545_33530548del, NC_000009.12:g.33530546_33530548del, NC_000009.12:g.33530547_33530548del, NC_000009.12:g.33530548del, NC_000009.12:g.33530548dup, NC_000009.12:g.33530547_33530548dup, NC_000009.12:g.33530546_33530548dup, NC_000009.12:g.33530545_33530548dup, NC_000009.12:g.33530544_33530548dup, NC_000009.12:g.33530543_33530548dup, NC_000009.12:g.33530536_33530548dup, NC_000009.11:g.33530536_33530546del, NC_000009.11:g.33530537_33530546del, NC_000009.11:g.33530541_33530546del, NC_000009.11:g.33530542_33530546del, NC_000009.11:g.33530543_33530546del, NC_000009.11:g.33530544_33530546del, NC_000009.11:g.33530545_33530546del, NC_000009.11:g.33530546del, NC_000009.11:g.33530546dup, NC_000009.11:g.33530545_33530546dup, NC_000009.11:g.33530544_33530546dup, NC_000009.11:g.33530543_33530546dup, NC_000009.11:g.33530542_33530546dup, NC_000009.11:g.33530541_33530546dup, NC_000009.11:g.33530534_33530546dup

Select item 14910493836.

rs1491049383 has merged into rs770345671 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:33548112 (GRCh38)
9:33548110 (GRCh37)
Canonical SPDI:: NC_000009.12:33548109:AAAA:AA
Gene:: ANKRD18B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33548112_33548113del, NC_000009.11:g.33548110_33548111del, NM_001353432.2:c.1135_1136del, NM_001353432.1:c.1135_1136del, NM_001013728.1:c.1324_1325del, NM_001393611.1:c.1324_1325del, NM_001244752.1:c.1135_1136del, NP_001340361.1:p.Lys379fs, NP_001380540.1:p.Lys442fs

Select item 14909537817.

rs1490953781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:33541765 (GRCh38)
9:33541763 (GRCh37)
Canonical SPDI:: NC_000009.12:33541764:T:C
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.33541765T>C, NC_000009.11:g.33541763T>C

Select item 14909450698.

rs1490945069 [Homo sapiens]

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

Select item 14909169359.

rs1490916935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:33566863 (GRCh38)
9:33566861 (GRCh37)
Canonical SPDI:: NC_000009.12:33566862:T:C
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000079/21 (TOPMED)
HGVS:: NC_000009.12:g.33566863T>C, NC_000009.11:g.33566861T>C

Select item 149089947310.

rs1490899473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:33567464 (GRCh38)
9:33567462 (GRCh37)
Canonical SPDI:: NC_000009.12:33567463:C:A
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.33567464C>A, NC_000009.11:g.33567462C>A

Select item 149087658811.

rs1490876588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:33543963 (GRCh38)
9:33543961 (GRCh37)
Canonical SPDI:: NC_000009.12:33543962:A:C
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.33543963A>C, NC_000009.11:g.33543961A>C

Select item 149084671212.

rs1490846712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:33549877 (GRCh38)
9:33549875 (GRCh37)
Canonical SPDI:: NC_000009.12:33549876:A:T
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.33549877A>T, NC_000009.11:g.33549875A>T

Select item 149072201813.

rs1490722018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:33566414 (GRCh38)
9:33566412 (GRCh37)
Canonical SPDI:: NC_000009.12:33566413:G:C
Gene:: ANKRD18B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33566414G>C, NC_000009.11:g.33566412G>C, NM_001353432.2:c.2467G>C, NM_001353432.1:c.2467G>C, NM_001013728.1:c.2656G>C, NM_001393611.1:c.2656G>C, NM_001244752.1:c.2467G>C, NP_001340361.1:p.Glu823Gln, NP_001380540.1:p.Glu886Gln

Select item 149053252814.

rs1490532528 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:33534136 (GRCh38)
9:33534134 (GRCh37)
Canonical SPDI:: NC_000009.12:33534135:A:T
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000009.12:g.33534136A>T, NC_000009.11:g.33534134A>T

Select item 149051542815.

rs1490515428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:33574979 (GRCh38)
9:33574977 (GRCh37)
Canonical SPDI:: NC_000009.12:33574978:G:A
Gene:: ANKRD18B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000009.12:g.33574979G>A, NC_000009.11:g.33574977G>A, NM_001353432.2:c.3237G>A, NM_001353432.1:c.3237G>A, NM_001013728.1:c.*235G>A

Select item 149041985216.

rs1490419852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:33545112 (GRCh38)
9:33545110 (GRCh37)
Canonical SPDI:: NC_000009.12:33545111:C:T
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.33545112C>T, NC_000009.11:g.33545110C>T

Select item 149039363817.

rs1490393638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:33547772 (GRCh38)
9:33547770 (GRCh37)
Canonical SPDI:: NC_000009.12:33547771:G:A
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.33547772G>A, NC_000009.11:g.33547770G>A

Select item 149005127818.

rs1490051278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:33531421 (GRCh38)
9:33531419 (GRCh37)
Canonical SPDI:: NC_000009.12:33531420:G:A
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.33531421G>A, NC_000009.11:g.33531419G>A

Select item 148999890919.

rs1489998909 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:33525934 (GRCh38)
9:33525932 (GRCh37)
Canonical SPDI:: NC_000009.12:33525933:A:G
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.33525934A>G, NC_000009.11:g.33525932A>G

Select item 148994471020.

rs1489944710 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:33530545 (GRCh38)
9:33530543 (GRCh37)
Canonical SPDI:: NC_000009.12:33530544:A:C
Gene:: ANKRD18B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.33530545A>C, NC_000009.11:g.33530543A>C

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