SNP Links for Gene (Select 1602) - SNP

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Select item 14915847921.

rs1491584792 has merged into rs565497537 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:71477120 (GRCh38)
13:72051252 (GRCh37)
Canonical SPDI:: NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71477104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DACH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1435/64 (NorthernSweden)
HGVS:: NC_000013.11:g.71477120_71477133del, NC_000013.11:g.71477121_71477133del, NC_000013.11:g.71477122_71477133del, NC_000013.11:g.71477123_71477133del, NC_000013.11:g.71477124_71477133del, NC_000013.11:g.71477125_71477133del, NC_000013.11:g.71477126_71477133del, NC_000013.11:g.71477127_71477133del, NC_000013.11:g.71477128_71477133del, NC_000013.11:g.71477129_71477133del, NC_000013.11:g.71477130_71477133del, NC_000013.11:g.71477131_71477133del, NC_000013.11:g.71477132_71477133del, NC_000013.11:g.71477133del, NC_000013.11:g.71477133dup, NC_000013.11:g.71477132_71477133dup, NC_000013.11:g.71477131_71477133dup, NC_000013.11:g.71477130_71477133dup, NC_000013.11:g.71477129_71477133dup, NC_000013.11:g.71477123_71477133dup, NC_000013.11:g.71477116_71477133dup, NC_000013.10:g.72051252_72051265del, NC_000013.10:g.72051253_72051265del, NC_000013.10:g.72051254_72051265del, NC_000013.10:g.72051255_72051265del, NC_000013.10:g.72051256_72051265del, NC_000013.10:g.72051257_72051265del, NC_000013.10:g.72051258_72051265del, NC_000013.10:g.72051259_72051265del, NC_000013.10:g.72051260_72051265del, NC_000013.10:g.72051261_72051265del, NC_000013.10:g.72051262_72051265del, NC_000013.10:g.72051263_72051265del, NC_000013.10:g.72051264_72051265del, NC_000013.10:g.72051265del, NC_000013.10:g.72051265dup, NC_000013.10:g.72051264_72051265dup, NC_000013.10:g.72051263_72051265dup, NC_000013.10:g.72051262_72051265dup, NC_000013.10:g.72051261_72051265dup, NC_000013.10:g.72051255_72051265dup, NC_000013.10:g.72051248_72051265dup, NG_011849.3:g.395075_395088del, NG_011849.3:g.395076_395088del, NG_011849.3:g.395077_395088del, NG_011849.3:g.395078_395088del, NG_011849.3:g.395079_395088del, NG_011849.3:g.395080_395088del, NG_011849.3:g.395081_395088del, NG_011849.3:g.395082_395088del, NG_011849.3:g.395083_395088del, NG_011849.3:g.395084_395088del, NG_011849.3:g.395085_395088del, NG_011849.3:g.395086_395088del, NG_011849.3:g.395087_395088del, NG_011849.3:g.395088del, NG_011849.3:g.395088dup, NG_011849.3:g.395087_395088dup, NG_011849.3:g.395086_395088dup, NG_011849.3:g.395085_395088dup, NG_011849.3:g.395084_395088dup, NG_011849.3:g.395078_395088dup, NG_011849.3:g.395071_395088dup

Select item 14915809412.

rs1491580941 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:71748913 (GRCh38)
13:72323046 (GRCh37)
Canonical SPDI:: NC_000013.11:71748913::C
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00027/9 (GnomAD)
HGVS:: NC_000013.11:g.71748913_71748914insC, NC_000013.10:g.72323045_72323046insC, NG_011849.3:g.123279_123280insG

Select item 14915590053.

rs1491559005 has merged into rs71123298 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:71679952 (GRCh38)
13:72254084 (GRCh37)
Canonical SPDI:: NC_000013.11:71679941:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:71679941:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:71679941:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:71679941:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:71679941:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71679941:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71679941:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71679941:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71679941:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71679941:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DACH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.71679952_71679960del, NC_000013.11:g.71679959_71679960del, NC_000013.11:g.71679960del, NC_000013.11:g.71679960dup, NC_000013.11:g.71679959_71679960dup, NC_000013.11:g.71679958_71679960dup, NC_000013.11:g.71679957_71679960dup, NC_000013.11:g.71679956_71679960dup, NC_000013.11:g.71679955_71679960dup, NC_000013.11:g.71679960_71679961insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.72254084_72254092del, NC_000013.10:g.72254091_72254092del, NC_000013.10:g.72254092del, NC_000013.10:g.72254092dup, NC_000013.10:g.72254091_72254092dup, NC_000013.10:g.72254090_72254092dup, NC_000013.10:g.72254089_72254092dup, NC_000013.10:g.72254088_72254092dup, NC_000013.10:g.72254087_72254092dup, NC_000013.10:g.72254092_72254093insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011849.3:g.192243_192251del, NG_011849.3:g.192250_192251del, NG_011849.3:g.192251del, NG_011849.3:g.192251dup, NG_011849.3:g.192250_192251dup, NG_011849.3:g.192249_192251dup, NG_011849.3:g.192248_192251dup, NG_011849.3:g.192247_192251dup, NG_011849.3:g.192246_192251dup, NG_011849.3:g.192251_192252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915510264.

rs1491551026 has merged into rs11322352 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:71708868 (GRCh38)
13:72283000 (GRCh37)
Canonical SPDI:: NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:71708852:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.71708868_71708870del, NC_000013.11:g.71708869_71708870del, NC_000013.11:g.71708870del, NC_000013.11:g.71708870dup, NC_000013.11:g.71708869_71708870dup, NC_000013.11:g.71708868_71708870dup, NC_000013.11:g.71708867_71708870dup, NC_000013.11:g.71708866_71708870dup, NC_000013.11:g.71708865_71708870dup, NC_000013.11:g.71708864_71708870dup, NC_000013.11:g.71708863_71708870dup, NC_000013.11:g.71708862_71708870dup, NC_000013.11:g.71708861_71708870dup, NC_000013.11:g.71708860_71708870dup, NC_000013.11:g.71708859_71708870dup, NC_000013.11:g.71708857_71708870dup, NC_000013.10:g.72283000_72283002del, NC_000013.10:g.72283001_72283002del, NC_000013.10:g.72283002del, NC_000013.10:g.72283002dup, NC_000013.10:g.72283001_72283002dup, NC_000013.10:g.72283000_72283002dup, NC_000013.10:g.72282999_72283002dup, NC_000013.10:g.72282998_72283002dup, NC_000013.10:g.72282997_72283002dup, NC_000013.10:g.72282996_72283002dup, NC_000013.10:g.72282995_72283002dup, NC_000013.10:g.72282994_72283002dup, NC_000013.10:g.72282993_72283002dup, NC_000013.10:g.72282992_72283002dup, NC_000013.10:g.72282991_72283002dup, NC_000013.10:g.72282989_72283002dup, NG_011849.3:g.163338_163340del, NG_011849.3:g.163339_163340del, NG_011849.3:g.163340del, NG_011849.3:g.163340dup, NG_011849.3:g.163339_163340dup, NG_011849.3:g.163338_163340dup, NG_011849.3:g.163337_163340dup, NG_011849.3:g.163336_163340dup, NG_011849.3:g.163335_163340dup, NG_011849.3:g.163334_163340dup, NG_011849.3:g.163333_163340dup, NG_011849.3:g.163332_163340dup, NG_011849.3:g.163331_163340dup, NG_011849.3:g.163330_163340dup, NG_011849.3:g.163329_163340dup, NG_011849.3:g.163327_163340dup

Select item 14915462095.

rs1491546209 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:71848214 (GRCh38)
13:72422346 (GRCh37)
Canonical SPDI:: NC_000013.11:71848213:CA:
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000035/4 (GnomAD)
HGVS:: NC_000013.11:g.71848214_71848215del, NC_000013.10:g.72422346_72422347del, NG_011849.3:g.23978_23979del

Select item 14915427636.

rs1491542763 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 13:71552882 (GRCh38)
13:72127014 (GRCh37)
Canonical SPDI:: NC_000013.11:71552880:AAA:A
Gene:: DACH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00074/12 (TOMMO)
HGVS:: NC_000013.11:g.71552882_71552883del, NC_000013.10:g.72127014_72127015del, NG_011849.3:g.319311_319312del

Select item 14915346697.

rs1491534669 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:71675033 (GRCh38)
13:72249165 (GRCh37)
Canonical SPDI:: NC_000013.11:71675029:AGAGA:AGA
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.005376/1 (GnomAD)
HGVS:: NC_000013.11:g.71675031GA[1], NC_000013.10:g.72249163GA[1], NG_011849.3:g.197160CT[1], NG_029804.1:g.65GA[1], XM_017020396.2:c.-143CT[1], XM_017020396.1:c.-143CT[1]

Select item 14915344538.

rs1491534453 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 13:71816619 (GRCh38)
13:72390751 (GRCh37)
Canonical SPDI:: NC_000013.11:71816618:CG:
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00005/4 (GnomAD)
-=0.00055/1 (Korea1K)
HGVS:: NC_000013.11:g.71816619_71816620del, NC_000013.10:g.72390751_72390752del, NG_011849.3:g.55573_55574del

Select item 14915330349.

rs1491533034 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:71816662 (GRCh38)
13:72390794 (GRCh37)
Canonical SPDI:: NC_000013.11:71816659:GTGT:GT
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.00009/2 (GnomAD)
-=0.00011/3 (TOMMO)
HGVS:: NC_000013.11:g.71816660GT[1], NC_000013.10:g.72390792GT[1], NG_011849.3:g.55530AC[1]

Select item 149153069310.

rs1491530693 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:71779197 (GRCh38)
13:72353329 (GRCh37)
Canonical SPDI:: NC_000013.11:71779196:GT:
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000279/30 (GnomAD)
HGVS:: NC_000013.11:g.71779197_71779198del, NC_000013.10:g.72353329_72353330del, NG_011849.3:g.92995_92996del

Select item 149153007311.

rs1491530073 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGAATT [Show Flanks]
Chromosome:: 13:71540035 (GRCh38)
13:72114168 (GRCh37)
Canonical SPDI:: NC_000013.11:71540035:TTATGAATT:TTATGAATTATGAATT
Gene:: DACH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
HGVS:: NC_000013.11:g.71540038_71540044dup, NC_000013.10:g.72114170_72114176dup, NG_011849.3:g.332151_332157dup, XM_011534940.3:c.*3211_*3217dup

Select item 149152680512.

rs1491526805 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:71708851 (GRCh38)
13:72282984 (GRCh37)
Canonical SPDI:: NC_000013.11:71708851:G:GG
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000013.11:g.71708852dup, NC_000013.10:g.72282984dup, NG_011849.3:g.163341dup

Select item 149152459513.

rs1491524595 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:71748873 (GRCh38)
13:72323006 (GRCh37)
Canonical SPDI:: NC_000013.11:71748873:C:CC
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000013.11:g.71748874dup, NC_000013.10:g.72323006dup, NG_011849.3:g.123319dup

Select item 149152319614.

rs1491523196 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:71735447 (GRCh38)
13:72309579 (GRCh37)
Canonical SPDI:: NC_000013.11:71735444:GTGT:GT
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
HGVS:: NC_000013.11:g.71735445GT[1], NC_000013.10:g.72309577GT[1], NG_011849.3:g.136745AC[1]

Select item 149152168415.

rs1491521684 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:71693470 (GRCh38)
13:72267603 (GRCh37)
Canonical SPDI:: NC_000013.11:71693470::A
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000013/1 (GnomAD)
HGVS:: NC_000013.11:g.71693470_71693471insA, NC_000013.10:g.72267602_72267603insA, NG_011849.3:g.178722_178723insT

Select item 149151439916.

rs1491514399 has merged into rs10688170 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:71807429 (GRCh38)
13:72381561 (GRCh37)
Canonical SPDI:: NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:71807419:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.3091/1548 (1000Genomes)
HGVS:: NC_000013.11:g.71807429_71807440del, NC_000013.11:g.71807433_71807440del, NC_000013.11:g.71807434_71807440del, NC_000013.11:g.71807435_71807440del, NC_000013.11:g.71807436_71807440del, NC_000013.11:g.71807437_71807440del, NC_000013.11:g.71807438_71807440del, NC_000013.11:g.71807439_71807440del, NC_000013.11:g.71807440del, NC_000013.11:g.71807440dup, NC_000013.11:g.71807439_71807440dup, NC_000013.11:g.71807438_71807440dup, NC_000013.11:g.71807437_71807440dup, NC_000013.11:g.71807436_71807440dup, NC_000013.11:g.71807435_71807440dup, NC_000013.11:g.71807434_71807440dup, NC_000013.11:g.71807433_71807440dup, NC_000013.11:g.71807432_71807440dup, NC_000013.11:g.71807430_71807440dup, NC_000013.11:g.71807429_71807440dup, NC_000013.11:g.71807421_71807440dup, NC_000013.11:g.71807440_71807441insAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.71807440_71807441insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.72381561_72381572del, NC_000013.10:g.72381565_72381572del, NC_000013.10:g.72381566_72381572del, NC_000013.10:g.72381567_72381572del, NC_000013.10:g.72381568_72381572del, NC_000013.10:g.72381569_72381572del, NC_000013.10:g.72381570_72381572del, NC_000013.10:g.72381571_72381572del, NC_000013.10:g.72381572del, NC_000013.10:g.72381572dup, NC_000013.10:g.72381571_72381572dup, NC_000013.10:g.72381570_72381572dup, NC_000013.10:g.72381569_72381572dup, NC_000013.10:g.72381568_72381572dup, NC_000013.10:g.72381567_72381572dup, NC_000013.10:g.72381566_72381572dup, NC_000013.10:g.72381565_72381572dup, NC_000013.10:g.72381564_72381572dup, NC_000013.10:g.72381562_72381572dup, NC_000013.10:g.72381561_72381572dup, NC_000013.10:g.72381553_72381572dup, NC_000013.10:g.72381572_72381573insAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.72381572_72381573insAAAAAAAAAAAAAAAAAAAAAAAA, NG_011849.3:g.64762_64773del, NG_011849.3:g.64766_64773del, NG_011849.3:g.64767_64773del, NG_011849.3:g.64768_64773del, NG_011849.3:g.64769_64773del, NG_011849.3:g.64770_64773del, NG_011849.3:g.64771_64773del, NG_011849.3:g.64772_64773del, NG_011849.3:g.64773del, NG_011849.3:g.64773dup, NG_011849.3:g.64772_64773dup, NG_011849.3:g.64771_64773dup, NG_011849.3:g.64770_64773dup, NG_011849.3:g.64769_64773dup, NG_011849.3:g.64768_64773dup, NG_011849.3:g.64767_64773dup, NG_011849.3:g.64766_64773dup, NG_011849.3:g.64765_64773dup, NG_011849.3:g.64763_64773dup, NG_011849.3:g.64762_64773dup, NG_011849.3:g.64754_64773dup, NG_011849.3:g.64773_64774insTTTTTTTTTTTTTTTTTTTTTT, NG_011849.3:g.64773_64774insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149151359017.

rs1491513590 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:71661167 (GRCh38)
13:72235300 (GRCh37)
Canonical SPDI:: NC_000013.11:71661167:T:TT
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.71661168dup, NC_000013.10:g.72235300dup, NG_011849.3:g.211025dup

Select item 149151029418.

rs1491510294 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:71730585 (GRCh38)
13:72304717 (GRCh37)
Canonical SPDI:: NC_000013.11:71730582:ATAT:AT
Gene:: DACH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.71730583AT[1], NC_000013.10:g.72304715AT[1], NG_011849.3:g.141607AT[1]

Select item 149150835919.

rs1491508359 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 13:71528445 (GRCh38)
13:72102578 (GRCh37)
Canonical SPDI:: NC_000013.11:71528445::TG
Gene:: DACH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.71528445_71528446insTG, NC_000013.10:g.72102577_72102578insTG, NG_011849.3:g.343747_343748insCA

Select item 149150473520.

rs1491504735 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTTTT [Show Flanks]
Chromosome:: 13:71529184 (GRCh38)
13:72103317 (GRCh37)
Canonical SPDI:: NC_000013.11:71529184:TTTTTTTT:TTTTTTTTGTTTTTTTT
Gene:: DACH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTGTTTTTTTT=0.00008/1 (ALFA)
TTTTTTTTG=0.00122/5 (GnomAD)
HGVS:: NC_000013.11:g.71529185_71529192T[8]GTTTTTTTT[1], NC_000013.10:g.72103317_72103324T[8]GTTTTTTTT[1], NG_011849.3:g.343001_343008A[8]CAAAAAAAA[1]

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