SNP Links for Gene (Select 54566) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915727361.

rs1491572736 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:109307034 (GRCh38)
9:112069315 (GRCh37)
Canonical SPDI:: NC_000009.12:109307034:C:CC
Gene:: EPB41L4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000064/1 (ALFA)
C=0.000483/67 (GnomAD)
HGVS:: NC_000009.12:g.109307035dup, NC_000009.11:g.112069315dup

Select item 14915542582.

rs1491554258 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACACAC [Show Flanks]
Chromosome:: 9:109175469 (GRCh38)
9:111937750 (GRCh37)
Canonical SPDI:: NC_000009.12:109175469:CACACAC:CACACACGCACACAC
Gene:: EPB41L4B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACGCACACAC=0./0 (ALFA)
CACACACG=0.000004/1 (TOPMED)
CACACACG=0.000094/1 (GnomAD)
HGVS:: NC_000009.12:g.109175470_109175476CA[3]CGCACACAC[1], NC_000009.11:g.111937750_111937756CA[3]CGCACACAC[1]

Select item 14915431353.

rs1491543135 has merged into rs1207588886 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 9:109226719 (GRCh38)
9:111988999 (GRCh37)
Canonical SPDI:: NC_000009.12:109226712:ATATATATAT:ATATAT,NC_000009.12:109226712:ATATATATAT:ATATATAT,NC_000009.12:109226712:ATATATATAT:ATATATATATAT
Gene:: EPB41L4B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
HGVS:: NC_000009.12:g.109226713AT[3], NC_000009.12:g.109226713AT[4], NC_000009.12:g.109226713AT[6], NC_000009.11:g.111988993AT[3], NC_000009.11:g.111988993AT[4], NC_000009.11:g.111988993AT[6]

Select item 14915135314.

rs1491513531 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:109226668 (GRCh38)
9:111988948 (GRCh37)
Canonical SPDI:: NC_000009.12:109226667:AA:
Gene:: EPB41L4B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000015/1 (GnomAD)
HGVS:: NC_000009.12:g.109226668_109226669del, NC_000009.11:g.111988948_111988949del

Select item 14915105105.

rs1491510510 has merged into rs3061574 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:109266978 (GRCh38)
9:112029258 (GRCh37)
Canonical SPDI:: NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EPB41L4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AA=0.45/18 (GENOME_DK)
HGVS:: NC_000009.12:g.109266978_109266993del, NC_000009.12:g.109266979_109266993del, NC_000009.12:g.109266980_109266993del, NC_000009.12:g.109266981_109266993del, NC_000009.12:g.109266982_109266993del, NC_000009.12:g.109266983_109266993del, NC_000009.12:g.109266984_109266993del, NC_000009.12:g.109266985_109266993del, NC_000009.12:g.109266986_109266993del, NC_000009.12:g.109266987_109266993del, NC_000009.12:g.109266988_109266993del, NC_000009.12:g.109266989_109266993del, NC_000009.12:g.109266990_109266993del, NC_000009.12:g.109266991_109266993del, NC_000009.12:g.109266992_109266993del, NC_000009.12:g.109266993del, NC_000009.12:g.109266993dup, NC_000009.12:g.109266992_109266993dup, NC_000009.12:g.109266991_109266993dup, NC_000009.12:g.109266990_109266993dup, NC_000009.12:g.109266989_109266993dup, NC_000009.12:g.109266988_109266993dup, NC_000009.12:g.109266987_109266993dup, NC_000009.12:g.109266983_109266993dup, NC_000009.12:g.109266974_109266993dup, NC_000009.12:g.109266993_109266994insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.109266993_109266994insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.109266993_109266994insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.109266993_109266994insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.109266969_109266993A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.109266969_109266993A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.109266969_109266993A[26]TTTAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.112029258_112029273del, NC_000009.11:g.112029259_112029273del, NC_000009.11:g.112029260_112029273del, NC_000009.11:g.112029261_112029273del, NC_000009.11:g.112029262_112029273del, NC_000009.11:g.112029263_112029273del, NC_000009.11:g.112029264_112029273del, NC_000009.11:g.112029265_112029273del, NC_000009.11:g.112029266_112029273del, NC_000009.11:g.112029267_112029273del, NC_000009.11:g.112029268_112029273del, NC_000009.11:g.112029269_112029273del, NC_000009.11:g.112029270_112029273del, NC_000009.11:g.112029271_112029273del, NC_000009.11:g.112029272_112029273del, NC_000009.11:g.112029273del, NC_000009.11:g.112029273dup, NC_000009.11:g.112029272_112029273dup, NC_000009.11:g.112029271_112029273dup, NC_000009.11:g.112029270_112029273dup, NC_000009.11:g.112029269_112029273dup, NC_000009.11:g.112029268_112029273dup, NC_000009.11:g.112029267_112029273dup, NC_000009.11:g.112029263_112029273dup, NC_000009.11:g.112029254_112029273dup, NC_000009.11:g.112029273_112029274insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.112029273_112029274insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.112029273_112029274insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.112029273_112029274insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.112029249_112029273A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.112029249_112029273A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.112029249_112029273A[26]TTTAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915050686.

rs1491505068 has merged into rs1304733980 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 9:109226704 (GRCh38)
9:111988984 (GRCh37)
Canonical SPDI:: NC_000009.12:109226697:ATATATATAT:ATATAT,NC_000009.12:109226697:ATATATATAT:ATATATAT,NC_000009.12:109226697:ATATATATAT:ATATATATATAT,NC_000009.12:109226697:ATATATATAT:ATATATATATATAT
Gene:: EPB41L4B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
HGVS:: NC_000009.12:g.109226698AT[3], NC_000009.12:g.109226698AT[4], NC_000009.12:g.109226698AT[6], NC_000009.12:g.109226698AT[7], NC_000009.11:g.111988978AT[3], NC_000009.11:g.111988978AT[4], NC_000009.11:g.111988978AT[6], NC_000009.11:g.111988978AT[7]

Select item 14915026497.

rs1491502649 has merged into rs59210551 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 9:109175488 (GRCh38)
9:111937768 (GRCh37)
Canonical SPDI:: NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:109175468:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: EPB41L4B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000009.12:g.109175470CA[9], NC_000009.12:g.109175470CA[10], NC_000009.12:g.109175470CA[11], NC_000009.12:g.109175470CA[12], NC_000009.12:g.109175470CA[13], NC_000009.12:g.109175470CA[14], NC_000009.12:g.109175470CA[15], NC_000009.12:g.109175470CA[16], NC_000009.12:g.109175470CA[17], NC_000009.12:g.109175470CA[18], NC_000009.12:g.109175470CA[19], NC_000009.12:g.109175470CA[20], NC_000009.12:g.109175470CA[21], NC_000009.12:g.109175470CA[23], NC_000009.12:g.109175470CA[24], NC_000009.12:g.109175470CA[25], NC_000009.12:g.109175470CA[26], NC_000009.12:g.109175470CA[27], NC_000009.12:g.109175470CA[28], NC_000009.12:g.109175470CA[29], NC_000009.12:g.109175470CA[30], NC_000009.12:g.109175470CA[31], NC_000009.12:g.109175470CA[32], NC_000009.11:g.111937750CA[9], NC_000009.11:g.111937750CA[10], NC_000009.11:g.111937750CA[11], NC_000009.11:g.111937750CA[12], NC_000009.11:g.111937750CA[13], NC_000009.11:g.111937750CA[14], NC_000009.11:g.111937750CA[15], NC_000009.11:g.111937750CA[16], NC_000009.11:g.111937750CA[17], NC_000009.11:g.111937750CA[18], NC_000009.11:g.111937750CA[19], NC_000009.11:g.111937750CA[20], NC_000009.11:g.111937750CA[21], NC_000009.11:g.111937750CA[23], NC_000009.11:g.111937750CA[24], NC_000009.11:g.111937750CA[25], NC_000009.11:g.111937750CA[26], NC_000009.11:g.111937750CA[27], NC_000009.11:g.111937750CA[28], NC_000009.11:g.111937750CA[29], NC_000009.11:g.111937750CA[30], NC_000009.11:g.111937750CA[31], NC_000009.11:g.111937750CA[32]

Select item 14914996978.

rs1491499697 [Homo sapiens]

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

Select item 14914861589.

rs1491486158 has merged into rs3061574 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:109266978 (GRCh38)
9:112029258 (GRCh37)
Canonical SPDI:: NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109266968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EPB41L4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AA=0.45/18 (GENOME_DK)
HGVS:: NC_000009.12:g.109266978_109266993del, NC_000009.12:g.109266979_109266993del, NC_000009.12:g.109266980_109266993del, NC_000009.12:g.109266981_109266993del, NC_000009.12:g.109266982_109266993del, NC_000009.12:g.109266983_109266993del, NC_000009.12:g.109266984_109266993del, NC_000009.12:g.109266985_109266993del, NC_000009.12:g.109266986_109266993del, NC_000009.12:g.109266987_109266993del, NC_000009.12:g.109266988_109266993del, NC_000009.12:g.109266989_109266993del, NC_000009.12:g.109266990_109266993del, NC_000009.12:g.109266991_109266993del, NC_000009.12:g.109266992_109266993del, NC_000009.12:g.109266993del, NC_000009.12:g.109266993dup, NC_000009.12:g.109266992_109266993dup, NC_000009.12:g.109266991_109266993dup, NC_000009.12:g.109266990_109266993dup, NC_000009.12:g.109266989_109266993dup, NC_000009.12:g.109266988_109266993dup, NC_000009.12:g.109266987_109266993dup, NC_000009.12:g.109266983_109266993dup, NC_000009.12:g.109266974_109266993dup, NC_000009.12:g.109266993_109266994insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.109266993_109266994insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.109266993_109266994insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.109266993_109266994insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.109266969_109266993A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.109266969_109266993A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.109266969_109266993A[26]TTTAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.112029258_112029273del, NC_000009.11:g.112029259_112029273del, NC_000009.11:g.112029260_112029273del, NC_000009.11:g.112029261_112029273del, NC_000009.11:g.112029262_112029273del, NC_000009.11:g.112029263_112029273del, NC_000009.11:g.112029264_112029273del, NC_000009.11:g.112029265_112029273del, NC_000009.11:g.112029266_112029273del, NC_000009.11:g.112029267_112029273del, NC_000009.11:g.112029268_112029273del, NC_000009.11:g.112029269_112029273del, NC_000009.11:g.112029270_112029273del, NC_000009.11:g.112029271_112029273del, NC_000009.11:g.112029272_112029273del, NC_000009.11:g.112029273del, NC_000009.11:g.112029273dup, NC_000009.11:g.112029272_112029273dup, NC_000009.11:g.112029271_112029273dup, NC_000009.11:g.112029270_112029273dup, NC_000009.11:g.112029269_112029273dup, NC_000009.11:g.112029268_112029273dup, NC_000009.11:g.112029267_112029273dup, NC_000009.11:g.112029263_112029273dup, NC_000009.11:g.112029254_112029273dup, NC_000009.11:g.112029273_112029274insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.112029273_112029274insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.112029273_112029274insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.112029273_112029274insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.112029249_112029273A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.112029249_112029273A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.112029249_112029273A[26]TTTAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149148568610.

rs1491485686 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 9:109318150 (GRCh38)
9:112080430 (GRCh37)
Canonical SPDI:: NC_000009.12:109318149:CG:
Gene:: EPB41L4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000009.12:g.109318150_109318151del, NC_000009.11:g.112080430_112080431del

Select item 149147625011.

rs1491476250 has merged into rs534923556 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:109307026 (GRCh38)
9:112069306 (GRCh37)
Canonical SPDI:: NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109307015:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EPB41L4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.4317/2162 (1000Genomes)
HGVS:: NC_000009.12:g.109307026_109307034del, NC_000009.12:g.109307029_109307034del, NC_000009.12:g.109307030_109307034del, NC_000009.12:g.109307031_109307034del, NC_000009.12:g.109307032_109307034del, NC_000009.12:g.109307033_109307034del, NC_000009.12:g.109307034del, NC_000009.12:g.109307034dup, NC_000009.12:g.109307033_109307034dup, NC_000009.12:g.109307032_109307034dup, NC_000009.12:g.109307031_109307034dup, NC_000009.12:g.109307030_109307034dup, NC_000009.12:g.109307029_109307034dup, NC_000009.12:g.109307028_109307034dup, NC_000009.12:g.109307026_109307034dup, NC_000009.12:g.109307025_109307034dup, NC_000009.12:g.109307024_109307034dup, NC_000009.12:g.109307022_109307034dup, NC_000009.12:g.109307021_109307034dup, NC_000009.12:g.109307034_109307035insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.112069306_112069314del, NC_000009.11:g.112069309_112069314del, NC_000009.11:g.112069310_112069314del, NC_000009.11:g.112069311_112069314del, NC_000009.11:g.112069312_112069314del, NC_000009.11:g.112069313_112069314del, NC_000009.11:g.112069314del, NC_000009.11:g.112069314dup, NC_000009.11:g.112069313_112069314dup, NC_000009.11:g.112069312_112069314dup, NC_000009.11:g.112069311_112069314dup, NC_000009.11:g.112069310_112069314dup, NC_000009.11:g.112069309_112069314dup, NC_000009.11:g.112069308_112069314dup, NC_000009.11:g.112069306_112069314dup, NC_000009.11:g.112069305_112069314dup, NC_000009.11:g.112069304_112069314dup, NC_000009.11:g.112069302_112069314dup, NC_000009.11:g.112069301_112069314dup, NC_000009.11:g.112069314_112069315insTTTTTTTTTTTTTTTTTTTTTT

Select item 149146670712.

rs1491466707 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 9:109243840 (GRCh38)
9:112006121 (GRCh37)
Canonical SPDI:: NC_000009.12:109243840:A:AGA
Gene:: EPB41L4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000009.12:g.109243841_109243842insGA, NC_000009.11:g.112006121_112006122insGA

Select item 149146453213.

rs1491464532 has merged into rs10568620 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 9:109216659 (GRCh38)
9:111978939 (GRCh37)
Canonical SPDI:: NC_000009.12:109216647:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:109216647:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:109216647:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:109216647:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:109216647:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:109216647:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:109216647:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:109216647:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:109216647:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:109216647:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: EPB41L4B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.1585/794 (1000Genomes)
HGVS:: NC_000009.12:g.109216659_109216662del, NC_000009.12:g.109216660_109216662del, NC_000009.12:g.109216661_109216662del, NC_000009.12:g.109216662del, NC_000009.12:g.109216662dup, NC_000009.12:g.109216661_109216662dup, NC_000009.12:g.109216660_109216662dup, NC_000009.12:g.109216659_109216662dup, NC_000009.12:g.109216657_109216662dup, NC_000009.12:g.109216656_109216662dup, NC_000009.11:g.111978939_111978942del, NC_000009.11:g.111978940_111978942del, NC_000009.11:g.111978941_111978942del, NC_000009.11:g.111978942del, NC_000009.11:g.111978942dup, NC_000009.11:g.111978941_111978942dup, NC_000009.11:g.111978940_111978942dup, NC_000009.11:g.111978939_111978942dup, NC_000009.11:g.111978937_111978942dup, NC_000009.11:g.111978936_111978942dup

Select item 149145446714.

rs1491454467 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:109226755 (GRCh38)
9:111989035 (GRCh37)
Canonical SPDI:: NC_000009.12:109226754:AA:
Gene:: EPB41L4B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000009.12:g.109226755_109226756del, NC_000009.11:g.111989035_111989036del

Select item 149144640015.

rs1491446400 has merged into rs10654240 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:109218135 (GRCh38)
9:111980415 (GRCh37)
Canonical SPDI:: NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109218126:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EPB41L4B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.247/1237 (1000Genomes)
HGVS:: NC_000009.12:g.109218135_109218145del, NC_000009.12:g.109218136_109218145del, NC_000009.12:g.109218138_109218145del, NC_000009.12:g.109218139_109218145del, NC_000009.12:g.109218140_109218145del, NC_000009.12:g.109218141_109218145del, NC_000009.12:g.109218142_109218145del, NC_000009.12:g.109218143_109218145del, NC_000009.12:g.109218144_109218145del, NC_000009.12:g.109218145del, NC_000009.12:g.109218145dup, NC_000009.12:g.109218144_109218145dup, NC_000009.12:g.109218143_109218145dup, NC_000009.12:g.109218142_109218145dup, NC_000009.12:g.109218141_109218145dup, NC_000009.12:g.109218140_109218145dup, NC_000009.12:g.109218139_109218145dup, NC_000009.12:g.109218138_109218145dup, NC_000009.12:g.109218137_109218145dup, NC_000009.12:g.109218135_109218145dup, NC_000009.12:g.109218145_109218146insTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.111980415_111980425del, NC_000009.11:g.111980416_111980425del, NC_000009.11:g.111980418_111980425del, NC_000009.11:g.111980419_111980425del, NC_000009.11:g.111980420_111980425del, NC_000009.11:g.111980421_111980425del, NC_000009.11:g.111980422_111980425del, NC_000009.11:g.111980423_111980425del, NC_000009.11:g.111980424_111980425del, NC_000009.11:g.111980425del, NC_000009.11:g.111980425dup, NC_000009.11:g.111980424_111980425dup, NC_000009.11:g.111980423_111980425dup, NC_000009.11:g.111980422_111980425dup, NC_000009.11:g.111980421_111980425dup, NC_000009.11:g.111980420_111980425dup, NC_000009.11:g.111980419_111980425dup, NC_000009.11:g.111980418_111980425dup, NC_000009.11:g.111980417_111980425dup, NC_000009.11:g.111980415_111980425dup, NC_000009.11:g.111980425_111980426insTTTTTTTTTTTTTTTTTTTTT

Select item 149144163516.

rs1491441635 has merged into rs3983533 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 9:109318166 (GRCh38)
9:112080446 (GRCh37)
Canonical SPDI:: NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:109318150:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: EPB41L4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTG=0./0 (ALFA)
GTGTGTGTGTGTGTGT=0.000132/35 (TOPMED)
-=0.145563/561 (ALSPAC)
HGVS:: NC_000009.12:g.109318152TG[7], NC_000009.12:g.109318152TG[8], NC_000009.12:g.109318152TG[9], NC_000009.12:g.109318152TG[10], NC_000009.12:g.109318152TG[11], NC_000009.12:g.109318152TG[12], NC_000009.12:g.109318152TG[13], NC_000009.12:g.109318152TG[14], NC_000009.12:g.109318152TG[16], NC_000009.12:g.109318152TG[17], NC_000009.12:g.109318152TG[18], NC_000009.12:g.109318152TG[19], NC_000009.12:g.109318152TG[20], NC_000009.12:g.109318152TG[21], NC_000009.12:g.109318152TG[22], NC_000009.12:g.109318152TG[23], NC_000009.12:g.109318152TG[24], NC_000009.12:g.109318152TG[25], NC_000009.11:g.112080432TG[7], NC_000009.11:g.112080432TG[8], NC_000009.11:g.112080432TG[9], NC_000009.11:g.112080432TG[10], NC_000009.11:g.112080432TG[11], NC_000009.11:g.112080432TG[12], NC_000009.11:g.112080432TG[13], NC_000009.11:g.112080432TG[14], NC_000009.11:g.112080432TG[16], NC_000009.11:g.112080432TG[17], NC_000009.11:g.112080432TG[18], NC_000009.11:g.112080432TG[19], NC_000009.11:g.112080432TG[20], NC_000009.11:g.112080432TG[21], NC_000009.11:g.112080432TG[22], NC_000009.11:g.112080432TG[23], NC_000009.11:g.112080432TG[24], NC_000009.11:g.112080432TG[25]

Select item 149143257917.

rs1491432579 has merged into rs377524946 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:109281138 (GRCh38)
9:112043418 (GRCh37)
Canonical SPDI:: NC_000009.12:109281126:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:109281126:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:109281126:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:109281126:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:109281126:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:109281126:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:109281126:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:109281126:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:109281126:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EPB41L4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.109281138_109281142del, NC_000009.12:g.109281139_109281142del, NC_000009.12:g.109281140_109281142del, NC_000009.12:g.109281141_109281142del, NC_000009.12:g.109281142del, NC_000009.12:g.109281142dup, NC_000009.12:g.109281141_109281142dup, NC_000009.12:g.109281136_109281142dup, NC_000009.12:g.109281142_109281143insTTTTTTTTTTTTTTTTTT, NC_000009.11:g.112043418_112043422del, NC_000009.11:g.112043419_112043422del, NC_000009.11:g.112043420_112043422del, NC_000009.11:g.112043421_112043422del, NC_000009.11:g.112043422del, NC_000009.11:g.112043422dup, NC_000009.11:g.112043421_112043422dup, NC_000009.11:g.112043416_112043422dup, NC_000009.11:g.112043422_112043423insTTTTTTTTTTTTTTTTTT

Select item 149142795018.

rs1491427950 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATATATGAAG [Show Flanks]
Chromosome:: 9:109226741 (GRCh38)
9:111989022 (GRCh37)
Canonical SPDI:: NC_000009.12:109226741:TATATATATGAAG:TATATATATGAAGTATATATATGAAG
Gene:: EPB41L4B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATGAAGTATATATATGAAG=0.00735/32 (ALFA)
TATATATATGAAG=0.00071/67 (GnomAD)
HGVS:: NC_000009.12:g.109226742_109226754dup, NC_000009.11:g.111989022_111989034dup

Select item 149138641319.

rs1491386413 has merged into rs760321257 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,GG,GGGGG [Show Flanks]
Chromosome:: 9:109262450 (GRCh38)
9:112024730 (GRCh37)
Canonical SPDI:: NC_000009.12:109262448:GGGGG:G,NC_000009.12:109262448:GGGGG:GGG,NC_000009.12:109262448:GGGGG:GGGGGG
Gene:: EPB41L4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.00037/6 (ALFA)
-=0.00403/65 (TOMMO)
-=0.01401/54 (ALSPAC)
-=0.01432/26 (Korea1K)
HGVS:: NC_000009.12:g.109262450_109262453del, NC_000009.12:g.109262452_109262453del, NC_000009.12:g.109262453dup, NC_000009.11:g.112024730_112024733del, NC_000009.11:g.112024732_112024733del, NC_000009.11:g.112024733dup

Select item 149135452820.

rs1491354528 has merged into rs1422275896 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 9:109176050 (GRCh38)
9:111938330 (GRCh37)
Canonical SPDI:: NC_000009.12:109176048:CGC:C,NC_000009.12:109176048:CGC:CGCGC
Gene:: EPB41L4B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGC=0./0 (ALFA)
CG=0.00038/5 (GnomAD)
-=0.0453/27 (NorthernSweden)
-=0.09637/1600 (TOMMO)
HGVS:: NC_000009.12:g.109176050_109176051del, NC_000009.12:g.109176050_109176051dup, NC_000009.11:g.111938330_111938331del, NC_000009.11:g.111938330_111938331dup

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity