SNP Links for Gene (Select 51) - SNP

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Select item 14915746451.

rs1491574645 has merged into rs1318167016 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 17:75954228 (GRCh38)
17:73950309 (GRCh37)
Canonical SPDI:: NC_000017.11:75954215:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:75954215:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:75954215:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:75954215:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:75954215:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:75954215:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.75954228_75954230del, NC_000017.11:g.75954229_75954230del, NC_000017.11:g.75954230del, NC_000017.11:g.75954230dup, NC_000017.11:g.75954229_75954230dup, NC_000017.11:g.75954228_75954230dup, NC_000017.10:g.73950309_73950311del, NC_000017.10:g.73950310_73950311del, NC_000017.10:g.73950311del, NC_000017.10:g.73950311dup, NC_000017.10:g.73950310_73950311dup, NC_000017.10:g.73950309_73950311dup, NG_008190.1:g.30146_30148del, NG_008190.1:g.30147_30148del, NG_008190.1:g.30148del, NG_008190.1:g.30148dup, NG_008190.1:g.30147_30148dup, NG_008190.1:g.30146_30148dup

Select item 14915325472.

rs1491532547 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATACATATATATACATATATATAC [Show Flanks]
Chromosome:: 17:75967647 (GRCh38)
17:73963729 (GRCh37)
Canonical SPDI:: NC_000017.11:75967647:ATATATATACATACATATATATACATATATATAC:ATATATATACATACATATATATACATATATATACATACATATATATACATATATATAC
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: ATATATATACATACATATATATAC=0.00002/2 (GnomAD)
HGVS:: NC_000017.11:g.75967658_75967681dup, NC_000017.10:g.73963739_73963762dup, NG_008190.1:g.16693_16716dup

Select item 14915258733.

rs1491525873 has merged into rs935410943 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 17:75967752 (GRCh38)
17:73963833 (GRCh37)
Canonical SPDI:: NC_000017.11:75967738:TATATATATATATAT:TATATATATATAT,NC_000017.11:75967738:TATATATATATATAT:TATATATATATATATAT,NC_000017.11:75967738:TATATATATATATAT:TATATATATATATATATAT
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
TA=0.00071/12 (TOMMO)
HGVS:: NC_000017.11:g.75967740AT[6], NC_000017.11:g.75967740AT[8], NC_000017.11:g.75967740AT[9], NC_000017.10:g.73963821AT[6], NC_000017.10:g.73963821AT[8], NC_000017.10:g.73963821AT[9], NG_008190.1:g.16612TA[6], NG_008190.1:g.16612TA[8], NG_008190.1:g.16612TA[9]

Select item 14915005654.

rs1491500565 [Homo sapiens]

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

Select item 14914968795.

rs1491496879 has merged into rs61575984 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:75961771 (GRCh38)
17:73957852 (GRCh37)
Canonical SPDI:: NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75961759:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.75961771_75961782del, NC_000017.11:g.75961773_75961782del, NC_000017.11:g.75961774_75961782del, NC_000017.11:g.75961776_75961782del, NC_000017.11:g.75961778_75961782del, NC_000017.11:g.75961779_75961782del, NC_000017.11:g.75961780_75961782del, NC_000017.11:g.75961781_75961782del, NC_000017.11:g.75961782del, NC_000017.11:g.75961782dup, NC_000017.11:g.75961781_75961782dup, NC_000017.11:g.75961780_75961782dup, NC_000017.11:g.75961779_75961782dup, NC_000017.11:g.75961778_75961782dup, NC_000017.11:g.75961777_75961782dup, NC_000017.11:g.75961776_75961782dup, NC_000017.10:g.73957852_73957863del, NC_000017.10:g.73957854_73957863del, NC_000017.10:g.73957855_73957863del, NC_000017.10:g.73957857_73957863del, NC_000017.10:g.73957859_73957863del, NC_000017.10:g.73957860_73957863del, NC_000017.10:g.73957861_73957863del, NC_000017.10:g.73957862_73957863del, NC_000017.10:g.73957863del, NC_000017.10:g.73957863dup, NC_000017.10:g.73957862_73957863dup, NC_000017.10:g.73957861_73957863dup, NC_000017.10:g.73957860_73957863dup, NC_000017.10:g.73957859_73957863dup, NC_000017.10:g.73957858_73957863dup, NC_000017.10:g.73957857_73957863dup, NG_008190.1:g.22593_22604del, NG_008190.1:g.22595_22604del, NG_008190.1:g.22596_22604del, NG_008190.1:g.22598_22604del, NG_008190.1:g.22600_22604del, NG_008190.1:g.22601_22604del, NG_008190.1:g.22602_22604del, NG_008190.1:g.22603_22604del, NG_008190.1:g.22604del, NG_008190.1:g.22604dup, NG_008190.1:g.22603_22604dup, NG_008190.1:g.22602_22604dup, NG_008190.1:g.22601_22604dup, NG_008190.1:g.22600_22604dup, NG_008190.1:g.22599_22604dup, NG_008190.1:g.22598_22604dup

Select item 14914903156.

rs1491490315 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:75954589 (GRCh38)
17:73950670 (GRCh37)
Canonical SPDI:: NC_000017.11:75954588:TG:
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000017.11:g.75954589_75954590del, NC_000017.10:g.73950670_73950671del, NG_008190.1:g.29774_29775del

Select item 14914846837.

rs1491484683 has merged into rs200405682 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 17:75967655 (GRCh38)
17:73963736 (GRCh37)
Canonical SPDI:: NC_000017.11:75967646:TATATATATA:TATATATA,NC_000017.11:75967646:TATATATATA:TATATATATATA
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0./0 (ALFA)
-=0.00007/2 (TOMMO)
HGVS:: NC_000017.11:g.75967647TA[4], NC_000017.11:g.75967647TA[6], NC_000017.10:g.73963728TA[4], NC_000017.10:g.73963728TA[6], NG_008190.1:g.16708TA[4], NG_008190.1:g.16708TA[6]

Select item 14914458738.

rs1491445873 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACATACATATATATACGTATATATA,CATACATATATATACGTATATATA,CGTATATATA [Show Flanks]
Chromosome:: 17:75967620 (GRCh38)
17:73963702 (GRCh37)
Canonical SPDI:: NC_000017.11:75967620:TATATATA:TATATATACACATACATATATATACGTATATATA,NC_000017.11:75967620:TATATATA:TATATATACATACATATATATACGTATATATA,NC_000017.11:75967620:TATATATA:TATATATACGTATATATA
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATACGTATATATA=0./0 (ALFA)
HGVS:: NC_000017.11:g.75967621_75967628TA[4]CA[2]TACATATATATACGTATATATA[1], NC_000017.11:g.75967621_75967628TA[4]CATA[2]TA[3]CGTATATATA[1], NC_000017.11:g.75967621_75967628TA[4]CGTATATATA[1], NC_000017.10:g.73963702_73963709TA[4]CA[2]TACATATATATACGTATATATA[1], NC_000017.10:g.73963702_73963709TA[4]CATA[2]TA[3]CGTATATATA[1], NC_000017.10:g.73963702_73963709TA[4]CGTATATATA[1], NG_008190.1:g.16736_16743TA[4]CGTATATATATGTATGTGTATATATA[1], NG_008190.1:g.16736_16743TA[4]CGTATATATATGTATGTATATATA[1], NG_008190.1:g.16736_16743TA[4]CGTATATATA[1]

Select item 14914453569.

rs1491445356 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:75958807 (GRCh38)
17:73954888 (GRCh37)
Canonical SPDI:: NC_000017.11:75958806:CA:
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0011/13 (ALFA)
HGVS:: NC_000017.11:g.75958807_75958808del, NC_000017.10:g.73954888_73954889del, NG_008190.1:g.25556_25557del

Select item 149142630310.

rs1491426303 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:75942429 (GRCh38)
17:73938510 (GRCh37)
Canonical SPDI:: NC_000017.11:75942428:CA:
Gene:: ACOX1 (Varview), FBF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00169/20 (ALFA)
-=0.00201/56 (TOMMO)
HGVS:: NC_000017.11:g.75942429_75942430del, NC_000017.10:g.73938510_73938511del, NG_008190.1:g.41934_41935del, NM_004035.7:c.*4318_*4319del, NM_004035.6:c.*4318_*4319del, NM_007292.6:c.*4318_*4319del, NM_007292.5:c.*4318_*4319del, NM_001185039.2:c.*4318_*4319del, NM_001185039.1:c.*4318_*4319del, XM_047436182.1:c.*4318_*4319del, XM_047436183.1:c.*4318_*4319del

Select item 149141725611.

rs1491417256 has merged into rs55762557 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:75970195 (GRCh38)
17:73966276 (GRCh37)
Canonical SPDI:: NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75970184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
AA=0.4044/2025 (1000Genomes)
HGVS:: NC_000017.11:g.75970195_75970201del, NC_000017.11:g.75970197_75970201del, NC_000017.11:g.75970198_75970201del, NC_000017.11:g.75970199_75970201del, NC_000017.11:g.75970200_75970201del, NC_000017.11:g.75970201del, NC_000017.11:g.75970201dup, NC_000017.11:g.75970200_75970201dup, NC_000017.11:g.75970199_75970201dup, NC_000017.11:g.75970198_75970201dup, NC_000017.11:g.75970197_75970201dup, NC_000017.11:g.75970196_75970201dup, NC_000017.11:g.75970195_75970201dup, NC_000017.11:g.75970194_75970201dup, NC_000017.11:g.75970193_75970201dup, NC_000017.11:g.75970192_75970201dup, NC_000017.11:g.75970191_75970201dup, NC_000017.11:g.75970190_75970201dup, NC_000017.11:g.75970189_75970201dup, NC_000017.11:g.75970188_75970201dup, NC_000017.11:g.75970187_75970201dup, NC_000017.11:g.75970186_75970201dup, NC_000017.11:g.75970185_75970201dup, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75970201_75970202insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966276_73966282del, NC_000017.10:g.73966278_73966282del, NC_000017.10:g.73966279_73966282del, NC_000017.10:g.73966280_73966282del, NC_000017.10:g.73966281_73966282del, NC_000017.10:g.73966282del, NC_000017.10:g.73966282dup, NC_000017.10:g.73966281_73966282dup, NC_000017.10:g.73966280_73966282dup, NC_000017.10:g.73966279_73966282dup, NC_000017.10:g.73966278_73966282dup, NC_000017.10:g.73966277_73966282dup, NC_000017.10:g.73966276_73966282dup, NC_000017.10:g.73966275_73966282dup, NC_000017.10:g.73966274_73966282dup, NC_000017.10:g.73966273_73966282dup, NC_000017.10:g.73966272_73966282dup, NC_000017.10:g.73966271_73966282dup, NC_000017.10:g.73966270_73966282dup, NC_000017.10:g.73966269_73966282dup, NC_000017.10:g.73966268_73966282dup, NC_000017.10:g.73966267_73966282dup, NC_000017.10:g.73966266_73966282dup, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73966282_73966283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008190.1:g.14173_14179del, NG_008190.1:g.14175_14179del, NG_008190.1:g.14176_14179del, NG_008190.1:g.14177_14179del, NG_008190.1:g.14178_14179del, NG_008190.1:g.14179del, NG_008190.1:g.14179dup, NG_008190.1:g.14178_14179dup, NG_008190.1:g.14177_14179dup, NG_008190.1:g.14176_14179dup, NG_008190.1:g.14175_14179dup, NG_008190.1:g.14174_14179dup, NG_008190.1:g.14173_14179dup, NG_008190.1:g.14172_14179dup, NG_008190.1:g.14171_14179dup, NG_008190.1:g.14170_14179dup, NG_008190.1:g.14169_14179dup, NG_008190.1:g.14168_14179dup, NG_008190.1:g.14167_14179dup, NG_008190.1:g.14166_14179dup, NG_008190.1:g.14165_14179dup, NG_008190.1:g.14164_14179dup, NG_008190.1:g.14163_14179dup, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.14179_14180insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149137710212.

rs1491377102 has merged into rs1022347068 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:75975058 (GRCh38)
17:73971139 (GRCh37)
Canonical SPDI:: NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75975050:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.75975058_75975073del, NC_000017.11:g.75975059_75975073del, NC_000017.11:g.75975061_75975073del, NC_000017.11:g.75975062_75975073del, NC_000017.11:g.75975063_75975073del, NC_000017.11:g.75975064_75975073del, NC_000017.11:g.75975065_75975073del, NC_000017.11:g.75975066_75975073del, NC_000017.11:g.75975067_75975073del, NC_000017.11:g.75975068_75975073del, NC_000017.11:g.75975069_75975073del, NC_000017.11:g.75975070_75975073del, NC_000017.11:g.75975071_75975073del, NC_000017.11:g.75975072_75975073del, NC_000017.11:g.75975073del, NC_000017.11:g.75975073dup, NC_000017.11:g.75975072_75975073dup, NC_000017.11:g.75975071_75975073dup, NC_000017.11:g.75975070_75975073dup, NC_000017.11:g.75975069_75975073dup, NC_000017.11:g.75975068_75975073dup, NC_000017.11:g.75975067_75975073dup, NC_000017.11:g.75975066_75975073dup, NC_000017.11:g.75975065_75975073dup, NC_000017.11:g.75975064_75975073dup, NC_000017.11:g.75975063_75975073dup, NC_000017.11:g.75975062_75975073dup, NC_000017.11:g.75975061_75975073dup, NC_000017.11:g.75975054_75975073dup, NC_000017.11:g.75975052_75975073dup, NC_000017.11:g.75975073_75975074insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75975073_75975074insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73971139_73971154del, NC_000017.10:g.73971140_73971154del, NC_000017.10:g.73971142_73971154del, NC_000017.10:g.73971143_73971154del, NC_000017.10:g.73971144_73971154del, NC_000017.10:g.73971145_73971154del, NC_000017.10:g.73971146_73971154del, NC_000017.10:g.73971147_73971154del, NC_000017.10:g.73971148_73971154del, NC_000017.10:g.73971149_73971154del, NC_000017.10:g.73971150_73971154del, NC_000017.10:g.73971151_73971154del, NC_000017.10:g.73971152_73971154del, NC_000017.10:g.73971153_73971154del, NC_000017.10:g.73971154del, NC_000017.10:g.73971154dup, NC_000017.10:g.73971153_73971154dup, NC_000017.10:g.73971152_73971154dup, NC_000017.10:g.73971151_73971154dup, NC_000017.10:g.73971150_73971154dup, NC_000017.10:g.73971149_73971154dup, NC_000017.10:g.73971148_73971154dup, NC_000017.10:g.73971147_73971154dup, NC_000017.10:g.73971146_73971154dup, NC_000017.10:g.73971145_73971154dup, NC_000017.10:g.73971144_73971154dup, NC_000017.10:g.73971143_73971154dup, NC_000017.10:g.73971142_73971154dup, NC_000017.10:g.73971135_73971154dup, NC_000017.10:g.73971133_73971154dup, NC_000017.10:g.73971154_73971155insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73971154_73971155insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008190.1:g.9298_9313del, NG_008190.1:g.9299_9313del, NG_008190.1:g.9301_9313del, NG_008190.1:g.9302_9313del, NG_008190.1:g.9303_9313del, NG_008190.1:g.9304_9313del, NG_008190.1:g.9305_9313del, NG_008190.1:g.9306_9313del, NG_008190.1:g.9307_9313del, NG_008190.1:g.9308_9313del, NG_008190.1:g.9309_9313del, NG_008190.1:g.9310_9313del, NG_008190.1:g.9311_9313del, NG_008190.1:g.9312_9313del, NG_008190.1:g.9313del, NG_008190.1:g.9313dup, NG_008190.1:g.9312_9313dup, NG_008190.1:g.9311_9313dup, NG_008190.1:g.9310_9313dup, NG_008190.1:g.9309_9313dup, NG_008190.1:g.9308_9313dup, NG_008190.1:g.9307_9313dup, NG_008190.1:g.9306_9313dup, NG_008190.1:g.9305_9313dup, NG_008190.1:g.9304_9313dup, NG_008190.1:g.9303_9313dup, NG_008190.1:g.9302_9313dup, NG_008190.1:g.9301_9313dup, NG_008190.1:g.9294_9313dup, NG_008190.1:g.9292_9313dup, NG_008190.1:g.9313_9314insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008190.1:g.9313_9314insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149130317913.

rs1491303179 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAAAAAAAAAAAAGA [Show Flanks]
Chromosome:: 17:75970185 (GRCh38)
17:73966267 (GRCh37)
Canonical SPDI:: NC_000017.11:75970185:AAAAAAAAAAAAAAAAGA:AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAGA
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: AAAAAAAAAAAAAAAAG=0.00002/2 (GnomAD)
HGVS:: NC_000017.11:g.75970187_75970203dup, NC_000017.10:g.73966268_73966284dup, NG_008190.1:g.14162_14178dup

Select item 149129103914.

rs1491291039 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:75975875 (GRCh38)
17:73971956 (GRCh37)
Canonical SPDI:: NC_000017.11:75975873:AAA:A
Gene:: ACOX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000037/5 (GnomAD)
-=0.007265/28 (ALSPAC)
-=0.010518/39 (TWINSUK)
HGVS:: NC_000017.11:g.75975875_75975876del, NC_000017.10:g.73971956_73971957del, NG_008190.1:g.8489_8490del

Select item 149128930515.

rs1491289305 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:75964178 (GRCh38)
17:73960259 (GRCh37)
Canonical SPDI:: NC_000017.11:75964177:CA:
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.75964178_75964179del, NC_000017.10:g.73960259_73960260del, NG_008190.1:g.20185_20186del

Select item 149128070016.

rs1491280700 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:75975050 (GRCh38)
17:73971131 (GRCh37)
Canonical SPDI:: NC_000017.11:75975049:CA:
Gene:: ACOX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.75975050_75975051del, NC_000017.10:g.73971131_73971132del, NG_008190.1:g.9313_9314del

Select item 149123578917.

rs1491235789 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:75944620 (GRCh38)
17:73940702 (GRCh37)
Canonical SPDI:: NC_000017.11:75944620:T:TT
Gene:: ACOX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000017.11:g.75944621dup, NC_000017.10:g.73940702dup, NG_008190.1:g.39743dup, NM_004035.7:c.*2127dup, NM_004035.6:c.*2127dup, NM_007292.6:c.*2127dup, NM_007292.5:c.*2127dup, NM_001185039.2:c.*2127dup, NM_001185039.1:c.*2127dup, XM_047436182.1:c.*2127dup, XM_047436183.1:c.*2127dup

Select item 149121192518.

rs1491211925 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:75967682 (GRCh38)
17:73963763 (GRCh37)
Canonical SPDI:: NC_000017.11:75967681:GT:
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000017.11:g.75967682_75967683del, NC_000017.10:g.73963763_73963764del, NG_008190.1:g.16681_16682del

Select item 149117077419.

rs1491170774 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TATA,TATATA,TATATATATA [Show Flanks]
Chromosome:: 17:75967685 (GRCh38)
17:73963766 (GRCh37)
Canonical SPDI:: NC_000017.11:75967682:TATATATATA:TA,NC_000017.11:75967682:TATATATATA:TATATA,NC_000017.11:75967682:TATATATATA:TATATATA,NC_000017.11:75967682:TATATATATA:TATATATATATA
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
TA=0.00007/1 (TOMMO)
HGVS:: NC_000017.11:g.75967683TA[1], NC_000017.11:g.75967683TA[3], NC_000017.11:g.75967683TA[4], NC_000017.11:g.75967683TA[6], NC_000017.10:g.73963764TA[1], NC_000017.10:g.73963764TA[3], NC_000017.10:g.73963764TA[4], NC_000017.10:g.73963764TA[6], NG_008190.1:g.16672TA[1], NG_008190.1:g.16672TA[3], NG_008190.1:g.16672TA[4], NG_008190.1:g.16672TA[6]

Select item 149115795720.

rs1491157957 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:75967646 (GRCh38)
17:73963727 (GRCh37)
Canonical SPDI:: NC_000017.11:75967645:GT:
Gene:: ACOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.75967646_75967647del, NC_000017.10:g.73963727_73963728del, NG_008190.1:g.16717_16718del

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