SNP Links for Nucleotide (Select 1140176921) - SNP

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Select item 14915710821.

rs1491571082 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:67857173 (GRCh38)
17:65853289 (GRCh37)
Canonical SPDI:: NC_000017.11:67857172:TG:
Gene:: BPTF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.67857173_67857174del, NC_000017.10:g.65853289_65853290del, NG_052828.1:g.36657_36658del

Select item 14915597662.

rs1491559766 has merged into rs754336182 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 17:67843232 (GRCh38)
17:65839348 (GRCh37)
Canonical SPDI:: NC_000017.11:67843226:TATATAT:TATAT,NC_000017.11:67843226:TATATAT:TATATATAT
Gene:: BPTF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.67843228AT[2], NC_000017.11:g.67843228AT[4], NC_000017.10:g.65839344AT[2], NC_000017.10:g.65839344AT[4], NG_052828.1:g.22712AT[2], NG_052828.1:g.22712AT[4]

Select item 14915495033.

rs1491549503 [Homo sapiens]

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

Select item 14915380944.

rs1491538094 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:67827605 (GRCh38)
17:65823721 (GRCh37)
Canonical SPDI:: NC_000017.11:67827604:CT:
Gene:: BPTF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.67827605_67827606del, NC_000017.10:g.65823721_65823722del, NG_052828.1:g.7089_7090del

Select item 14915193925.

rs1491519392 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:67858548 (GRCh38)
17:65854664 (GRCh37)
Canonical SPDI:: NC_000017.11:67858545:CTCT:CT
Gene:: BPTF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000033/4 (GnomAD)
HGVS:: NC_000017.11:g.67858546CT[1], NC_000017.10:g.65854662CT[1], NG_052828.1:g.38030CT[1]

Select item 14914695816.

rs1491469581 has merged into rs1228953258 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 17:67895475 (GRCh38)
17:65891591 (GRCh37)
Canonical SPDI:: NC_000017.11:67895462:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:67895462:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:67895462:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:67895462:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:67895462:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:67895462:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:67895462:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:67895462:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:67895462:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: BPTF (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.67895475_67895481del, NC_000017.11:g.67895476_67895481del, NC_000017.11:g.67895478_67895481del, NC_000017.11:g.67895479_67895481del, NC_000017.11:g.67895480_67895481del, NC_000017.11:g.67895481del, NC_000017.11:g.67895481dup, NC_000017.11:g.67895480_67895481dup, NC_000017.11:g.67895479_67895481dup, NC_000017.10:g.65891591_65891597del, NC_000017.10:g.65891592_65891597del, NC_000017.10:g.65891594_65891597del, NC_000017.10:g.65891595_65891597del, NC_000017.10:g.65891596_65891597del, NC_000017.10:g.65891597del, NC_000017.10:g.65891597dup, NC_000017.10:g.65891596_65891597dup, NC_000017.10:g.65891595_65891597dup, NG_052828.1:g.74959_74965del, NG_052828.1:g.74960_74965del, NG_052828.1:g.74962_74965del, NG_052828.1:g.74963_74965del, NG_052828.1:g.74964_74965del, NG_052828.1:g.74965del, NG_052828.1:g.74965dup, NG_052828.1:g.74964_74965dup, NG_052828.1:g.74963_74965dup, XM_011524524.4:c.-2933_-2927del, XM_011524524.4:c.-2932_-2927del, XM_011524524.4:c.-2930_-2927del, XM_011524524.4:c.-2929_-2927del, XM_011524524.4:c.-2928_-2927del, XM_011524524.4:c.-2927del, XM_011524524.4:c.-2927dup, XM_011524524.4:c.-2928_-2927dup, XM_011524524.4:c.-2929_-2927dup, XM_047435620.1:c.-2933_-2927del, XM_047435620.1:c.-2932_-2927del, XM_047435620.1:c.-2930_-2927del, XM_047435620.1:c.-2929_-2927del, XM_047435620.1:c.-2928_-2927del, XM_047435620.1:c.-2927del, XM_047435620.1:c.-2927dup, XM_047435620.1:c.-2928_-2927dup, XM_047435620.1:c.-2929_-2927dup, XM_047435621.1:c.-2933_-2927del, XM_047435621.1:c.-2932_-2927del, XM_047435621.1:c.-2930_-2927del, XM_047435621.1:c.-2929_-2927del, XM_047435621.1:c.-2928_-2927del, XM_047435621.1:c.-2927del, XM_047435621.1:c.-2927dup, XM_047435621.1:c.-2928_-2927dup, XM_047435621.1:c.-2929_-2927dup

Select item 14914489247.

rs1491448924 has merged into rs569120237 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:67934879 (GRCh38)
17:65930995 (GRCh37)
Canonical SPDI:: NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67934870:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BPTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.2983/1494 (1000Genomes)
HGVS:: NC_000017.11:g.67934879_67934889del, NC_000017.11:g.67934883_67934889del, NC_000017.11:g.67934884_67934889del, NC_000017.11:g.67934885_67934889del, NC_000017.11:g.67934886_67934889del, NC_000017.11:g.67934887_67934889del, NC_000017.11:g.67934888_67934889del, NC_000017.11:g.67934889del, NC_000017.11:g.67934889dup, NC_000017.11:g.67934888_67934889dup, NC_000017.11:g.67934887_67934889dup, NC_000017.11:g.67934886_67934889dup, NC_000017.11:g.67934885_67934889dup, NC_000017.11:g.67934884_67934889dup, NC_000017.11:g.67934883_67934889dup, NC_000017.11:g.67934882_67934889dup, NC_000017.11:g.67934881_67934889dup, NC_000017.11:g.67934880_67934889dup, NC_000017.11:g.67934879_67934889dup, NC_000017.11:g.67934878_67934889dup, NC_000017.11:g.67934877_67934889dup, NC_000017.11:g.67934876_67934889dup, NC_000017.11:g.67934875_67934889dup, NC_000017.11:g.67934874_67934889dup, NC_000017.11:g.67934873_67934889dup, NC_000017.11:g.67934872_67934889dup, NC_000017.11:g.67934889_67934890insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67934889_67934890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65930995_65931005del, NC_000017.10:g.65930999_65931005del, NC_000017.10:g.65931000_65931005del, NC_000017.10:g.65931001_65931005del, NC_000017.10:g.65931002_65931005del, NC_000017.10:g.65931003_65931005del, NC_000017.10:g.65931004_65931005del, NC_000017.10:g.65931005del, NC_000017.10:g.65931005dup, NC_000017.10:g.65931004_65931005dup, NC_000017.10:g.65931003_65931005dup, NC_000017.10:g.65931002_65931005dup, NC_000017.10:g.65931001_65931005dup, NC_000017.10:g.65931000_65931005dup, NC_000017.10:g.65930999_65931005dup, NC_000017.10:g.65930998_65931005dup, NC_000017.10:g.65930997_65931005dup, NC_000017.10:g.65930996_65931005dup, NC_000017.10:g.65930995_65931005dup, NC_000017.10:g.65930994_65931005dup, NC_000017.10:g.65930993_65931005dup, NC_000017.10:g.65930992_65931005dup, NC_000017.10:g.65930991_65931005dup, NC_000017.10:g.65930990_65931005dup, NC_000017.10:g.65930989_65931005dup, NC_000017.10:g.65930988_65931005dup, NC_000017.10:g.65931005_65931006insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65931005_65931006insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052828.1:g.114363_114373del, NG_052828.1:g.114367_114373del, NG_052828.1:g.114368_114373del, NG_052828.1:g.114369_114373del, NG_052828.1:g.114370_114373del, NG_052828.1:g.114371_114373del, NG_052828.1:g.114372_114373del, NG_052828.1:g.114373del, NG_052828.1:g.114373dup, NG_052828.1:g.114372_114373dup, NG_052828.1:g.114371_114373dup, NG_052828.1:g.114370_114373dup, NG_052828.1:g.114369_114373dup, NG_052828.1:g.114368_114373dup, NG_052828.1:g.114367_114373dup, NG_052828.1:g.114366_114373dup, NG_052828.1:g.114365_114373dup, NG_052828.1:g.114364_114373dup, NG_052828.1:g.114363_114373dup, NG_052828.1:g.114362_114373dup, NG_052828.1:g.114361_114373dup, NG_052828.1:g.114360_114373dup, NG_052828.1:g.114359_114373dup, NG_052828.1:g.114358_114373dup, NG_052828.1:g.114357_114373dup, NG_052828.1:g.114356_114373dup, NG_052828.1:g.114373_114374insAAAAAAAAAAAAAAAAAAAAAA, NG_052828.1:g.114373_114374insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914289728.

rs1491428972 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTTT,CCTTTCTTT,CCTTTCTTTCTTT,CCTTTCTTTTCTTT [Show Flanks]
Chromosome:: 17:67917132 (GRCh38)
17:65913249 (GRCh37)
Canonical SPDI:: NC_000017.11:67917132:TTT:TTTCCTTT,NC_000017.11:67917132:TTT:TTTCCTTTCTTT,NC_000017.11:67917132:TTT:TTTCCTTTCTTTCTTT,NC_000017.11:67917132:TTT:TTTCCTTTCTTTTCTTT
Gene:: BPTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCCTTTCTTT=0./0 (ALFA)
TTTCC=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.67917135_67917136insCCTTT, NC_000017.11:g.67917135_67917136insCCTTTCTTT, NC_000017.11:g.67917135_67917136insCCTTTCTTTCTTT, NC_000017.11:g.67917135_67917136insCCTTTCTTTTCTTT, NC_000017.10:g.65913251_65913252insCCTTT, NC_000017.10:g.65913251_65913252insCCTTTCTTT, NC_000017.10:g.65913251_65913252insCCTTTCTTTCTTT, NC_000017.10:g.65913251_65913252insCCTTTCTTTTCTTT, NG_052828.1:g.96619_96620insCCTTT, NG_052828.1:g.96619_96620insCCTTTCTTT, NG_052828.1:g.96619_96620insCCTTTCTTTCTTT, NG_052828.1:g.96619_96620insCCTTTCTTTTCTTT

Select item 14914085629.

rs1491408562 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:67895462 (GRCh38)
17:65891578 (GRCh37)
Canonical SPDI:: NC_000017.11:67895461:AT:
Gene:: BPTF (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000285/37 (GnomAD)
HGVS:: NC_000017.11:g.67895462_67895463del, NC_000017.10:g.65891578_65891579del, NG_052828.1:g.74946_74947del, XM_011524524.4:c.-2946_-2945del, XM_047435620.1:c.-2946_-2945del, XM_047435621.1:c.-2946_-2945del

Select item 149140747910.

rs1491407479 [Homo sapiens]

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

Select item 149139537611.

rs1491395376 has merged into rs750678904 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:67897353 (GRCh38)
17:65893469 (GRCh37)
Canonical SPDI:: NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67897341:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BPTF (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAA=0.025/1 (GENOME_DK)
HGVS:: NC_000017.11:g.67897353_67897371del, NC_000017.11:g.67897354_67897371del, NC_000017.11:g.67897355_67897371del, NC_000017.11:g.67897356_67897371del, NC_000017.11:g.67897357_67897371del, NC_000017.11:g.67897358_67897371del, NC_000017.11:g.67897359_67897371del, NC_000017.11:g.67897360_67897371del, NC_000017.11:g.67897361_67897371del, NC_000017.11:g.67897362_67897371del, NC_000017.11:g.67897363_67897371del, NC_000017.11:g.67897364_67897371del, NC_000017.11:g.67897365_67897371del, NC_000017.11:g.67897366_67897371del, NC_000017.11:g.67897367_67897371del, NC_000017.11:g.67897368_67897371del, NC_000017.11:g.67897369_67897371del, NC_000017.11:g.67897370_67897371del, NC_000017.11:g.67897371del, NC_000017.11:g.67897371dup, NC_000017.11:g.67897370_67897371dup, NC_000017.11:g.67897369_67897371dup, NC_000017.11:g.67897368_67897371dup, NC_000017.11:g.67897367_67897371dup, NC_000017.11:g.67897366_67897371dup, NC_000017.11:g.67897365_67897371dup, NC_000017.11:g.67897364_67897371dup, NC_000017.11:g.67897362_67897371dup, NC_000017.11:g.67897360_67897371dup, NC_000017.11:g.67897359_67897371dup, NC_000017.11:g.67897358_67897371dup, NC_000017.11:g.67897357_67897371dup, NC_000017.11:g.67897356_67897371dup, NC_000017.11:g.67897355_67897371dup, NC_000017.11:g.67897354_67897371dup, NC_000017.11:g.67897353_67897371dup, NC_000017.11:g.67897352_67897371dup, NC_000017.11:g.67897350_67897371dup, NC_000017.10:g.65893469_65893487del, NC_000017.10:g.65893470_65893487del, NC_000017.10:g.65893471_65893487del, NC_000017.10:g.65893472_65893487del, NC_000017.10:g.65893473_65893487del, NC_000017.10:g.65893474_65893487del, NC_000017.10:g.65893475_65893487del, NC_000017.10:g.65893476_65893487del, NC_000017.10:g.65893477_65893487del, NC_000017.10:g.65893478_65893487del, NC_000017.10:g.65893479_65893487del, NC_000017.10:g.65893480_65893487del, NC_000017.10:g.65893481_65893487del, NC_000017.10:g.65893482_65893487del, NC_000017.10:g.65893483_65893487del, NC_000017.10:g.65893484_65893487del, NC_000017.10:g.65893485_65893487del, NC_000017.10:g.65893486_65893487del, NC_000017.10:g.65893487del, NC_000017.10:g.65893487dup, NC_000017.10:g.65893486_65893487dup, NC_000017.10:g.65893485_65893487dup, NC_000017.10:g.65893484_65893487dup, NC_000017.10:g.65893483_65893487dup, NC_000017.10:g.65893482_65893487dup, NC_000017.10:g.65893481_65893487dup, NC_000017.10:g.65893480_65893487dup, NC_000017.10:g.65893478_65893487dup, NC_000017.10:g.65893476_65893487dup, NC_000017.10:g.65893475_65893487dup, NC_000017.10:g.65893474_65893487dup, NC_000017.10:g.65893473_65893487dup, NC_000017.10:g.65893472_65893487dup, NC_000017.10:g.65893471_65893487dup, NC_000017.10:g.65893470_65893487dup, NC_000017.10:g.65893469_65893487dup, NC_000017.10:g.65893468_65893487dup, NC_000017.10:g.65893466_65893487dup, NG_052828.1:g.76837_76855del, NG_052828.1:g.76838_76855del, NG_052828.1:g.76839_76855del, NG_052828.1:g.76840_76855del, NG_052828.1:g.76841_76855del, NG_052828.1:g.76842_76855del, NG_052828.1:g.76843_76855del, NG_052828.1:g.76844_76855del, NG_052828.1:g.76845_76855del, NG_052828.1:g.76846_76855del, NG_052828.1:g.76847_76855del, NG_052828.1:g.76848_76855del, NG_052828.1:g.76849_76855del, NG_052828.1:g.76850_76855del, NG_052828.1:g.76851_76855del, NG_052828.1:g.76852_76855del, NG_052828.1:g.76853_76855del, NG_052828.1:g.76854_76855del, NG_052828.1:g.76855del, NG_052828.1:g.76855dup, NG_052828.1:g.76854_76855dup, NG_052828.1:g.76853_76855dup, NG_052828.1:g.76852_76855dup, NG_052828.1:g.76851_76855dup, NG_052828.1:g.76850_76855dup, NG_052828.1:g.76849_76855dup, NG_052828.1:g.76848_76855dup, NG_052828.1:g.76846_76855dup, NG_052828.1:g.76844_76855dup, NG_052828.1:g.76843_76855dup, NG_052828.1:g.76842_76855dup, NG_052828.1:g.76841_76855dup, NG_052828.1:g.76840_76855dup, NG_052828.1:g.76839_76855dup, NG_052828.1:g.76838_76855dup, NG_052828.1:g.76837_76855dup, NG_052828.1:g.76836_76855dup, NG_052828.1:g.76834_76855dup, XM_011524524.4:c.-1055_-1037del, XM_011524524.4:c.-1054_-1037del, XM_011524524.4:c.-1053_-1037del, XM_011524524.4:c.-1052_-1037del, XM_011524524.4:c.-1051_-1037del, XM_011524524.4:c.-1050_-1037del, XM_011524524.4:c.-1049_-1037del, XM_011524524.4:c.-1048_-1037del, XM_011524524.4:c.-1047_-1037del, XM_011524524.4:c.-1046_-1037del, XM_011524524.4:c.-1045_-1037del, XM_011524524.4:c.-1044_-1037del, XM_011524524.4:c.-1043_-1037del, XM_011524524.4:c.-1042_-1037del, XM_011524524.4:c.-1041_-1037del, XM_011524524.4:c.-1040_-1037del, XM_011524524.4:c.-1039_-1037del, XM_011524524.4:c.-1038_-1037del, XM_011524524.4:c.-1037del, XM_011524524.4:c.-1037dup, XM_011524524.4:c.-1038_-1037dup, XM_011524524.4:c.-1039_-1037dup, XM_011524524.4:c.-1040_-1037dup, XM_011524524.4:c.-1041_-1037dup, XM_011524524.4:c.-1042_-1037dup, XM_011524524.4:c.-1043_-1037dup, XM_011524524.4:c.-1044_-1037dup, XM_011524524.4:c.-1046_-1037dup, XM_011524524.4:c.-1048_-1037dup, XM_011524524.4:c.-1049_-1037dup, XM_011524524.4:c.-1050_-1037dup, XM_011524524.4:c.-1051_-1037dup, XM_011524524.4:c.-1052_-1037dup, XM_011524524.4:c.-1053_-1037dup, XM_011524524.4:c.-1054_-1037dup, XM_011524524.4:c.-1055_-1037dup, XM_011524524.4:c.-1056_-1037dup, XM_011524524.4:c.-1058_-1037dup, XM_047435620.1:c.-1055_-1037del, XM_047435620.1:c.-1054_-1037del, XM_047435620.1:c.-1053_-1037del, XM_047435620.1:c.-1052_-1037del, XM_047435620.1:c.-1051_-1037del, XM_047435620.1:c.-1050_-1037del, XM_047435620.1:c.-1049_-1037del, XM_047435620.1:c.-1048_-1037del, XM_047435620.1:c.-1047_-1037del, XM_047435620.1:c.-1046_-1037del, XM_047435620.1:c.-1045_-1037del, XM_047435620.1:c.-1044_-1037del, XM_047435620.1:c.-1043_-1037del, XM_047435620.1:c.-1042_-1037del, XM_047435620.1:c.-1041_-1037del, XM_047435620.1:c.-1040_-1037del, XM_047435620.1:c.-1039_-1037del, XM_047435620.1:c.-1038_-1037del, XM_047435620.1:c.-1037del, XM_047435620.1:c.-1037dup, XM_047435620.1:c.-1038_-1037dup, XM_047435620.1:c.-1039_-1037dup, XM_047435620.1:c.-1040_-1037dup, XM_047435620.1:c.-1041_-1037dup, XM_047435620.1:c.-1042_-1037dup, XM_047435620.1:c.-1043_-1037dup, XM_047435620.1:c.-1044_-1037dup, XM_047435620.1:c.-1046_-1037dup, XM_047435620.1:c.-1048_-1037dup, XM_047435620.1:c.-1049_-1037dup, XM_047435620.1:c.-1050_-1037dup, XM_047435620.1:c.-1051_-1037dup, XM_047435620.1:c.-1052_-1037dup, XM_047435620.1:c.-1053_-1037dup, XM_047435620.1:c.-1054_-1037dup, XM_047435620.1:c.-1055_-1037dup, XM_047435620.1:c.-1056_-1037dup, XM_047435620.1:c.-1058_-1037dup, XM_047435621.1:c.-1055_-1037del, XM_047435621.1:c.-1054_-1037del, XM_047435621.1:c.-1053_-1037del, XM_047435621.1:c.-1052_-1037del, XM_047435621.1:c.-1051_-1037del, XM_047435621.1:c.-1050_-1037del, XM_047435621.1:c.-1049_-1037del, XM_047435621.1:c.-1048_-1037del, XM_047435621.1:c.-1047_-1037del, XM_047435621.1:c.-1046_-1037del, XM_047435621.1:c.-1045_-1037del, XM_047435621.1:c.-1044_-1037del, XM_047435621.1:c.-1043_-1037del, XM_047435621.1:c.-1042_-1037del, XM_047435621.1:c.-1041_-1037del, XM_047435621.1:c.-1040_-1037del, XM_047435621.1:c.-1039_-1037del, XM_047435621.1:c.-1038_-1037del, XM_047435621.1:c.-1037del, XM_047435621.1:c.-1037dup, XM_047435621.1:c.-1038_-1037dup, XM_047435621.1:c.-1039_-1037dup, XM_047435621.1:c.-1040_-1037dup, XM_047435621.1:c.-1041_-1037dup, XM_047435621.1:c.-1042_-1037dup, XM_047435621.1:c.-1043_-1037dup, XM_047435621.1:c.-1044_-1037dup, XM_047435621.1:c.-1046_-1037dup, XM_047435621.1:c.-1048_-1037dup, XM_047435621.1:c.-1049_-1037dup, XM_047435621.1:c.-1050_-1037dup, XM_047435621.1:c.-1051_-1037dup, XM_047435621.1:c.-1052_-1037dup, XM_047435621.1:c.-1053_-1037dup, XM_047435621.1:c.-1054_-1037dup, XM_047435621.1:c.-1055_-1037dup, XM_047435621.1:c.-1056_-1037dup, XM_047435621.1:c.-1058_-1037dup

Select item 149138757812.

rs1491387578 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:67895332 (GRCh38)
17:65891448 (GRCh37)
Canonical SPDI:: NC_000017.11:67895331:CA:
Gene:: BPTF (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.67895332_67895333del, NC_000017.10:g.65891448_65891449del, NG_052828.1:g.74816_74817del, XM_011524524.4:c.-3076_-3075del, XM_047435620.1:c.-3076_-3075del, XM_047435621.1:c.-3076_-3075del

Select item 149138155413.

rs1491381554 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 17:67880980 (GRCh38)
17:65877096 (GRCh37)
Canonical SPDI:: NC_000017.11:67880979:CG:
Gene:: BPTF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00049/8 (ALFA)
-=0.000431/56 (GnomAD)
HGVS:: NC_000017.11:g.67880980_67880981del, NC_000017.10:g.65877096_65877097del, NG_052828.1:g.60464_60465del

Select item 149136801914.

rs1491368019 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:67934895 (GRCh38)
17:65931011 (GRCh37)
Canonical SPDI:: NC_000017.11:67934894:TA:
Gene:: BPTF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.67934895_67934896del, NC_000017.10:g.65931011_65931012del, NG_052828.1:g.114379_114380del

Select item 149133492715.

rs1491334927 has merged into rs35234780 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:67895342 (GRCh38)
17:65891458 (GRCh37)
Canonical SPDI:: NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67895332:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BPTF (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.67895342_67895356del, NC_000017.11:g.67895343_67895356del, NC_000017.11:g.67895345_67895356del, NC_000017.11:g.67895346_67895356del, NC_000017.11:g.67895347_67895356del, NC_000017.11:g.67895348_67895356del, NC_000017.11:g.67895349_67895356del, NC_000017.11:g.67895350_67895356del, NC_000017.11:g.67895351_67895356del, NC_000017.11:g.67895352_67895356del, NC_000017.11:g.67895353_67895356del, NC_000017.11:g.67895354_67895356del, NC_000017.11:g.67895355_67895356del, NC_000017.11:g.67895356del, NC_000017.11:g.67895356dup, NC_000017.11:g.67895355_67895356dup, NC_000017.11:g.67895354_67895356dup, NC_000017.11:g.67895353_67895356dup, NC_000017.11:g.67895352_67895356dup, NC_000017.11:g.67895351_67895356dup, NC_000017.11:g.67895349_67895356dup, NC_000017.11:g.67895356_67895357insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65891458_65891472del, NC_000017.10:g.65891459_65891472del, NC_000017.10:g.65891461_65891472del, NC_000017.10:g.65891462_65891472del, NC_000017.10:g.65891463_65891472del, NC_000017.10:g.65891464_65891472del, NC_000017.10:g.65891465_65891472del, NC_000017.10:g.65891466_65891472del, NC_000017.10:g.65891467_65891472del, NC_000017.10:g.65891468_65891472del, NC_000017.10:g.65891469_65891472del, NC_000017.10:g.65891470_65891472del, NC_000017.10:g.65891471_65891472del, NC_000017.10:g.65891472del, NC_000017.10:g.65891472dup, NC_000017.10:g.65891471_65891472dup, NC_000017.10:g.65891470_65891472dup, NC_000017.10:g.65891469_65891472dup, NC_000017.10:g.65891468_65891472dup, NC_000017.10:g.65891467_65891472dup, NC_000017.10:g.65891465_65891472dup, NC_000017.10:g.65891472_65891473insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052828.1:g.74826_74840del, NG_052828.1:g.74827_74840del, NG_052828.1:g.74829_74840del, NG_052828.1:g.74830_74840del, NG_052828.1:g.74831_74840del, NG_052828.1:g.74832_74840del, NG_052828.1:g.74833_74840del, NG_052828.1:g.74834_74840del, NG_052828.1:g.74835_74840del, NG_052828.1:g.74836_74840del, NG_052828.1:g.74837_74840del, NG_052828.1:g.74838_74840del, NG_052828.1:g.74839_74840del, NG_052828.1:g.74840del, NG_052828.1:g.74840dup, NG_052828.1:g.74839_74840dup, NG_052828.1:g.74838_74840dup, NG_052828.1:g.74837_74840dup, NG_052828.1:g.74836_74840dup, NG_052828.1:g.74835_74840dup, NG_052828.1:g.74833_74840dup, NG_052828.1:g.74840_74841insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_011524524.4:c.-3066_-3052del, XM_011524524.4:c.-3065_-3052del, XM_011524524.4:c.-3063_-3052del, XM_011524524.4:c.-3062_-3052del, XM_011524524.4:c.-3061_-3052del, XM_011524524.4:c.-3060_-3052del, XM_011524524.4:c.-3059_-3052del, XM_011524524.4:c.-3058_-3052del, XM_011524524.4:c.-3057_-3052del, XM_011524524.4:c.-3056_-3052del, XM_011524524.4:c.-3055_-3052del, XM_011524524.4:c.-3054_-3052del, XM_011524524.4:c.-3053_-3052del, XM_011524524.4:c.-3052del, XM_011524524.4:c.-3052dup, XM_011524524.4:c.-3053_-3052dup, XM_011524524.4:c.-3054_-3052dup, XM_011524524.4:c.-3055_-3052dup, XM_011524524.4:c.-3056_-3052dup, XM_011524524.4:c.-3057_-3052dup, XM_011524524.4:c.-3059_-3052dup, XM_011524524.4:c.-3052_-3051insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047435620.1:c.-3066_-3052del, XM_047435620.1:c.-3065_-3052del, XM_047435620.1:c.-3063_-3052del, XM_047435620.1:c.-3062_-3052del, XM_047435620.1:c.-3061_-3052del, XM_047435620.1:c.-3060_-3052del, XM_047435620.1:c.-3059_-3052del, XM_047435620.1:c.-3058_-3052del, XM_047435620.1:c.-3057_-3052del, XM_047435620.1:c.-3056_-3052del, XM_047435620.1:c.-3055_-3052del, XM_047435620.1:c.-3054_-3052del, XM_047435620.1:c.-3053_-3052del, XM_047435620.1:c.-3052del, XM_047435620.1:c.-3052dup, XM_047435620.1:c.-3053_-3052dup, XM_047435620.1:c.-3054_-3052dup, XM_047435620.1:c.-3055_-3052dup, XM_047435620.1:c.-3056_-3052dup, XM_047435620.1:c.-3057_-3052dup, XM_047435620.1:c.-3059_-3052dup, XM_047435620.1:c.-3052_-3051insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047435621.1:c.-3066_-3052del, XM_047435621.1:c.-3065_-3052del, XM_047435621.1:c.-3063_-3052del, XM_047435621.1:c.-3062_-3052del, XM_047435621.1:c.-3061_-3052del, XM_047435621.1:c.-3060_-3052del, XM_047435621.1:c.-3059_-3052del, XM_047435621.1:c.-3058_-3052del, XM_047435621.1:c.-3057_-3052del, XM_047435621.1:c.-3056_-3052del, XM_047435621.1:c.-3055_-3052del, XM_047435621.1:c.-3054_-3052del, XM_047435621.1:c.-3053_-3052del, XM_047435621.1:c.-3052del, XM_047435621.1:c.-3052dup, XM_047435621.1:c.-3053_-3052dup, XM_047435621.1:c.-3054_-3052dup, XM_047435621.1:c.-3055_-3052dup, XM_047435621.1:c.-3056_-3052dup, XM_047435621.1:c.-3057_-3052dup, XM_047435621.1:c.-3059_-3052dup, XM_047435621.1:c.-3052_-3051insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149133471316.

rs1491334713 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 17:67864525 (GRCh38)
17:65860642 (GRCh37)
Canonical SPDI:: NC_000017.11:67864525:A:AA,NC_000017.11:67864525:A:AAA
Gene:: BPTF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.67864526dup, NC_000017.11:g.67864526_67864527insAA, NC_000017.10:g.65860642dup, NC_000017.10:g.65860642_65860643insAA, NG_052828.1:g.44010dup, NG_052828.1:g.44010_44011insAA

Select item 149131250217.

rs1491312502 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCT [Show Flanks]
Chromosome:: 17:67858546 (GRCh38)
17:65854663 (GRCh37)
Canonical SPDI:: NC_000017.11:67858546:TCTGTCT:TCTGTCTGTCT
Gene:: BPTF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTGTCTGTCT=0.00961/114 (ALFA)
TCTG=0.01702/109 (1000Genomes)
HGVS:: NC_000017.11:g.67858550_67858553dup, NC_000017.10:g.65854666_65854669dup, NG_052828.1:g.38034_38037dup

Select item 149130694718.

rs1491306947 has merged into rs71993218 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC [Show Flanks]
Chromosome:: 17:67880973 (GRCh38)
17:65877089 (GRCh37)
Canonical SPDI:: NC_000017.11:67880958:ACACACACACACACACACACAC:ACACACACACACAC,NC_000017.11:67880958:ACACACACACACACACACACAC:ACACACACACACACAC,NC_000017.11:67880958:ACACACACACACACACACACAC:ACACACACACACACACAC,NC_000017.11:67880958:ACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000017.11:67880958:ACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000017.11:67880958:ACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000017.11:67880958:ACACACACACACACACACACAC:ACACACACACACACACACACACACACAC
Gene:: BPTF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0./0 (ALFA)
AC=0.011326/2998 (TOPMED)
AC=0.3/12 (GENOME_DK)
HGVS:: NC_000017.11:g.67880959AC[7], NC_000017.11:g.67880959AC[8], NC_000017.11:g.67880959AC[9], NC_000017.11:g.67880959AC[10], NC_000017.11:g.67880959AC[12], NC_000017.11:g.67880959AC[13], NC_000017.11:g.67880959AC[14], NC_000017.10:g.65877075AC[7], NC_000017.10:g.65877075AC[8], NC_000017.10:g.65877075AC[9], NC_000017.10:g.65877075AC[10], NC_000017.10:g.65877075AC[12], NC_000017.10:g.65877075AC[13], NC_000017.10:g.65877075AC[14], NG_052828.1:g.60443AC[7], NG_052828.1:g.60443AC[8], NG_052828.1:g.60443AC[9], NG_052828.1:g.60443AC[10], NG_052828.1:g.60443AC[12], NG_052828.1:g.60443AC[13], NG_052828.1:g.60443AC[14]

Select item 149127580619.

rs1491275806 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:67879154 (GRCh38)
17:65875270 (GRCh37)
Canonical SPDI:: NC_000017.11:67879152:TCT:T
Gene:: BPTF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00093/11 (ALFA)
-=0.00155/143 (GnomAD)
-=0.00193/27 (TOMMO)
HGVS:: NC_000017.11:g.67879154_67879155del, NC_000017.10:g.65875270_65875271del, NG_052828.1:g.58638_58639del

Select item 149127341820.

rs1491273418 has merged into rs1156404121 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:67976699 (GRCh38)
17:65972815 (GRCh37)
Canonical SPDI:: NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67976685:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BPTF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.67976699_67976715del, NC_000017.11:g.67976702_67976715del, NC_000017.11:g.67976703_67976715del, NC_000017.11:g.67976704_67976715del, NC_000017.11:g.67976705_67976715del, NC_000017.11:g.67976706_67976715del, NC_000017.11:g.67976707_67976715del, NC_000017.11:g.67976708_67976715del, NC_000017.11:g.67976709_67976715del, NC_000017.11:g.67976710_67976715del, NC_000017.11:g.67976711_67976715del, NC_000017.11:g.67976712_67976715del, NC_000017.11:g.67976713_67976715del, NC_000017.11:g.67976714_67976715del, NC_000017.11:g.67976715del, NC_000017.11:g.67976715dup, NC_000017.11:g.67976714_67976715dup, NC_000017.11:g.67976713_67976715dup, NC_000017.11:g.67976712_67976715dup, NC_000017.11:g.67976711_67976715dup, NC_000017.11:g.67976710_67976715dup, NC_000017.11:g.67976709_67976715dup, NC_000017.11:g.67976708_67976715dup, NC_000017.11:g.67976707_67976715dup, NC_000017.11:g.67976706_67976715dup, NC_000017.11:g.67976705_67976715dup, NC_000017.11:g.67976704_67976715dup, NC_000017.11:g.67976703_67976715dup, NC_000017.11:g.67976694_67976715dup, NC_000017.11:g.67976693_67976715dup, NC_000017.11:g.67976692_67976715dup, NC_000017.11:g.67976690_67976715dup, NC_000017.10:g.65972815_65972831del, NC_000017.10:g.65972818_65972831del, NC_000017.10:g.65972819_65972831del, NC_000017.10:g.65972820_65972831del, NC_000017.10:g.65972821_65972831del, NC_000017.10:g.65972822_65972831del, NC_000017.10:g.65972823_65972831del, NC_000017.10:g.65972824_65972831del, NC_000017.10:g.65972825_65972831del, NC_000017.10:g.65972826_65972831del, NC_000017.10:g.65972827_65972831del, NC_000017.10:g.65972828_65972831del, NC_000017.10:g.65972829_65972831del, NC_000017.10:g.65972830_65972831del, NC_000017.10:g.65972831del, NC_000017.10:g.65972831dup, NC_000017.10:g.65972830_65972831dup, NC_000017.10:g.65972829_65972831dup, NC_000017.10:g.65972828_65972831dup, NC_000017.10:g.65972827_65972831dup, NC_000017.10:g.65972826_65972831dup, NC_000017.10:g.65972825_65972831dup, NC_000017.10:g.65972824_65972831dup, NC_000017.10:g.65972823_65972831dup, NC_000017.10:g.65972822_65972831dup, NC_000017.10:g.65972821_65972831dup, NC_000017.10:g.65972820_65972831dup, NC_000017.10:g.65972819_65972831dup, NC_000017.10:g.65972810_65972831dup, NC_000017.10:g.65972809_65972831dup, NC_000017.10:g.65972808_65972831dup, NC_000017.10:g.65972806_65972831dup, NG_052828.1:g.156183_156199del, NG_052828.1:g.156186_156199del, NG_052828.1:g.156187_156199del, NG_052828.1:g.156188_156199del, NG_052828.1:g.156189_156199del, NG_052828.1:g.156190_156199del, NG_052828.1:g.156191_156199del, NG_052828.1:g.156192_156199del, NG_052828.1:g.156193_156199del, NG_052828.1:g.156194_156199del, NG_052828.1:g.156195_156199del, NG_052828.1:g.156196_156199del, NG_052828.1:g.156197_156199del, NG_052828.1:g.156198_156199del, NG_052828.1:g.156199del, NG_052828.1:g.156199dup, NG_052828.1:g.156198_156199dup, NG_052828.1:g.156197_156199dup, NG_052828.1:g.156196_156199dup, NG_052828.1:g.156195_156199dup, NG_052828.1:g.156194_156199dup, NG_052828.1:g.156193_156199dup, NG_052828.1:g.156192_156199dup, NG_052828.1:g.156191_156199dup, NG_052828.1:g.156190_156199dup, NG_052828.1:g.156189_156199dup, NG_052828.1:g.156188_156199dup, NG_052828.1:g.156187_156199dup, NG_052828.1:g.156178_156199dup, NG_052828.1:g.156177_156199dup, NG_052828.1:g.156176_156199dup, NG_052828.1:g.156174_156199dup, NW_003871088.1:g.36710_36726del, NW_003871088.1:g.36713_36726del, NW_003871088.1:g.36714_36726del, NW_003871088.1:g.36715_36726del, NW_003871088.1:g.36716_36726del, NW_003871088.1:g.36717_36726del, NW_003871088.1:g.36718_36726del, NW_003871088.1:g.36719_36726del, NW_003871088.1:g.36720_36726del, NW_003871088.1:g.36721_36726del, NW_003871088.1:g.36722_36726del, NW_003871088.1:g.36723_36726del, NW_003871088.1:g.36724_36726del, NW_003871088.1:g.36725_36726del, NW_003871088.1:g.36726del, NW_003871088.1:g.36726dup, NW_003871088.1:g.36725_36726dup, NW_003871088.1:g.36724_36726dup, NW_003871088.1:g.36723_36726dup, NW_003871088.1:g.36722_36726dup, NW_003871088.1:g.36721_36726dup, NW_003871088.1:g.36720_36726dup, NW_003871088.1:g.36719_36726dup, NW_003871088.1:g.36718_36726dup, NW_003871088.1:g.36717_36726dup, NW_003871088.1:g.36716_36726dup, NW_003871088.1:g.36715_36726dup, NW_003871088.1:g.36714_36726dup, NW_003871088.1:g.36705_36726dup, NW_003871088.1:g.36704_36726dup, NW_003871088.1:g.36703_36726dup, NW_003871088.1:g.36701_36726dup

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