SNP Links for Nucleotide (Select 300069053) - SNP

Links from Nucleotide

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Select item 14915726731.

rs1491572673 has merged into rs398014415 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAAA [Show Flanks]
Chromosome:: 10:90918991 (GRCh38)
10:92678748 (GRCh37)
Canonical SPDI:: NC_000010.11:90918989:AAA:A,NC_000010.11:90918989:AAA:AA,NC_000010.11:90918989:AAA:AAAAA
Gene:: ANKRD1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.01/78 (ExAC)
-=0.04714/2782 (GnomAD)
-=0.05761/926 (TOMMO)
HGVS:: NC_000010.11:g.90918991_90918992del, NC_000010.11:g.90918992del, NC_000010.11:g.90918991_90918992dup, NC_000010.10:g.92678748_92678749del, NC_000010.10:g.92678749del, NC_000010.10:g.92678748_92678749dup, NG_023227.1:g.7285_7286del, NG_023227.1:g.7286del, NG_023227.1:g.7285_7286dup

Select item 14914637122.

rs1491463712 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTTTATTTTATTT [Show Flanks]
Chromosome:: 10:90926267 (GRCh38)
10:92686025 (GRCh37)
Canonical SPDI:: NC_000010.11:90926267:TTTATTTTATTTTATTT:TTTATTTTATTTTATTTATTTTATTTTATTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTTTATTTTATTTATTTTATTTTATTT=0.00017/2 (ALFA)
TTTATTTTATTTTA=0.00065/62 (GnomAD)
HGVS:: NC_000010.11:g.90926271_90926284dup, NC_000010.10:g.92686028_92686041dup, NG_023227.1:g.1_3AAATA[2]AA[1], NG_023227.1:g.1_3AAATA[3]AATAA[2]A[1]

Select item 14913333733.

rs1491333373 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:90918983 (GRCh38)
10:92678740 (GRCh37)
Canonical SPDI:: NC_000010.11:90918980:AAAA:AA
Gene:: ANKRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00049/20 (GnomAD)
HGVS:: NC_000010.11:g.90918983_90918984del, NC_000010.10:g.92678740_92678741del, NG_023227.1:g.7294_7295del

Select item 14912262074.

rs1491226207 has merged into rs794728971 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:90918987 (GRCh38)
10:92678744 (GRCh37)
Canonical SPDI:: NC_000010.11:90918985:AAA:A
Gene:: ANKRD1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.05404/641 (ALFA)
-=0.02842/397 (ExAC)
-=0.07378/1237 (TOMMO)
-=0.15226/8859 (GnomAD)
HGVS:: NC_000010.11:g.90918987_90918988del, NC_000010.10:g.92678744_92678745del, NG_023227.1:g.7289_7290del

Select item 14911722195.

rs1491172219 has merged into rs112074175 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 10:90916445 (GRCh38)
10:92676202 (GRCh37)
Canonical SPDI:: NC_000010.11:90916430:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000010.11:90916430:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000010.11:90916430:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000010.11:90916430:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000010.11:90916430:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000010.11:90916430:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000010.11:90916430:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: ANKRD1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.15/6 (GENOME_DK)
-=0.1967/118 (NorthernSweden)
-=0.2374/1189 (1000Genomes)
HGVS:: NC_000010.11:g.90916431TG[7], NC_000010.11:g.90916431TG[8], NC_000010.11:g.90916431TG[9], NC_000010.11:g.90916431TG[11], NC_000010.11:g.90916431TG[12], NC_000010.11:g.90916431TG[13], NC_000010.11:g.90916431TG[14], NC_000010.10:g.92676188TG[7], NC_000010.10:g.92676188TG[8], NC_000010.10:g.92676188TG[9], NC_000010.10:g.92676188TG[11], NC_000010.10:g.92676188TG[12], NC_000010.10:g.92676188TG[13], NC_000010.10:g.92676188TG[14], NG_023227.1:g.9826CA[7], NG_023227.1:g.9826CA[8], NG_023227.1:g.9826CA[9], NG_023227.1:g.9826CA[11], NG_023227.1:g.9826CA[12], NG_023227.1:g.9826CA[13], NG_023227.1:g.9826CA[14]

Select item 14908132546.

rs1490813254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:90920449 (GRCh38)
10:92680206 (GRCh37)
Canonical SPDI:: NC_000010.11:90920448:A:T
Gene:: ANKRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.90920449A>T, NC_000010.10:g.92680206A>T, NG_023227.1:g.5827T>A

Select item 14905849797.

rs1490584979 has merged into rs71025330 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,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,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:90912305 (GRCh38)
10:92672062 (GRCh37)
Canonical SPDI:: NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:90912291:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ANKRD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.90912305_90912321del, NC_000010.11:g.90912306_90912321del, NC_000010.11:g.90912307_90912321del, NC_000010.11:g.90912308_90912321del, NC_000010.11:g.90912309_90912321del, NC_000010.11:g.90912310_90912321del, NC_000010.11:g.90912311_90912321del, NC_000010.11:g.90912312_90912321del, NC_000010.11:g.90912313_90912321del, NC_000010.11:g.90912314_90912321del, NC_000010.11:g.90912315_90912321del, NC_000010.11:g.90912316_90912321del, NC_000010.11:g.90912317_90912321del, NC_000010.11:g.90912318_90912321del, NC_000010.11:g.90912319_90912321del, NC_000010.11:g.90912320_90912321del, NC_000010.11:g.90912321del, NC_000010.11:g.90912321dup, NC_000010.11:g.90912320_90912321dup, NC_000010.11:g.90912319_90912321dup, NC_000010.11:g.90912318_90912321dup, NC_000010.11:g.90912317_90912321dup, NC_000010.11:g.90912316_90912321dup, NC_000010.11:g.90912315_90912321dup, NC_000010.11:g.90912314_90912321dup, NC_000010.11:g.90912313_90912321dup, NC_000010.11:g.90912312_90912321dup, NC_000010.11:g.90912311_90912321dup, NC_000010.11:g.90912310_90912321dup, NC_000010.11:g.90912309_90912321dup, NC_000010.11:g.90912308_90912321dup, NC_000010.11:g.90912307_90912321dup, NC_000010.11:g.90912306_90912321dup, NC_000010.11:g.90912305_90912321dup, NC_000010.11:g.90912304_90912321dup, NC_000010.11:g.90912303_90912321dup, NC_000010.11:g.90912302_90912321dup, NC_000010.11:g.90912301_90912321dup, NC_000010.11:g.90912300_90912321dup, NC_000010.11:g.90912299_90912321dup, NC_000010.11:g.90912298_90912321dup, NC_000010.11:g.90912297_90912321dup, NC_000010.11:g.90912296_90912321dup, NC_000010.11:g.90912295_90912321dup, NC_000010.11:g.90912294_90912321dup, NC_000010.11:g.90912293_90912321dup, NC_000010.11:g.90912292_90912321dup, NC_000010.11:g.90912321_90912322insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.90912321_90912322insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.90912321_90912322insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.92672062_92672078del, NC_000010.10:g.92672063_92672078del, NC_000010.10:g.92672064_92672078del, NC_000010.10:g.92672065_92672078del, NC_000010.10:g.92672066_92672078del, NC_000010.10:g.92672067_92672078del, NC_000010.10:g.92672068_92672078del, NC_000010.10:g.92672069_92672078del, NC_000010.10:g.92672070_92672078del, NC_000010.10:g.92672071_92672078del, NC_000010.10:g.92672072_92672078del, NC_000010.10:g.92672073_92672078del, NC_000010.10:g.92672074_92672078del, NC_000010.10:g.92672075_92672078del, NC_000010.10:g.92672076_92672078del, NC_000010.10:g.92672077_92672078del, NC_000010.10:g.92672078del, NC_000010.10:g.92672078dup, NC_000010.10:g.92672077_92672078dup, NC_000010.10:g.92672076_92672078dup, NC_000010.10:g.92672075_92672078dup, NC_000010.10:g.92672074_92672078dup, NC_000010.10:g.92672073_92672078dup, NC_000010.10:g.92672072_92672078dup, NC_000010.10:g.92672071_92672078dup, NC_000010.10:g.92672070_92672078dup, NC_000010.10:g.92672069_92672078dup, NC_000010.10:g.92672068_92672078dup, NC_000010.10:g.92672067_92672078dup, NC_000010.10:g.92672066_92672078dup, NC_000010.10:g.92672065_92672078dup, NC_000010.10:g.92672064_92672078dup, NC_000010.10:g.92672063_92672078dup, NC_000010.10:g.92672062_92672078dup, NC_000010.10:g.92672061_92672078dup, NC_000010.10:g.92672060_92672078dup, NC_000010.10:g.92672059_92672078dup, NC_000010.10:g.92672058_92672078dup, NC_000010.10:g.92672057_92672078dup, NC_000010.10:g.92672056_92672078dup, NC_000010.10:g.92672055_92672078dup, NC_000010.10:g.92672054_92672078dup, NC_000010.10:g.92672053_92672078dup, NC_000010.10:g.92672052_92672078dup, NC_000010.10:g.92672051_92672078dup, NC_000010.10:g.92672050_92672078dup, NC_000010.10:g.92672049_92672078dup, NC_000010.10:g.92672078_92672079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.92672078_92672079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.92672078_92672079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_023227.1:g.13968_13984del, NG_023227.1:g.13969_13984del, NG_023227.1:g.13970_13984del, NG_023227.1:g.13971_13984del, NG_023227.1:g.13972_13984del, NG_023227.1:g.13973_13984del, NG_023227.1:g.13974_13984del, NG_023227.1:g.13975_13984del, NG_023227.1:g.13976_13984del, NG_023227.1:g.13977_13984del, NG_023227.1:g.13978_13984del, NG_023227.1:g.13979_13984del, NG_023227.1:g.13980_13984del, NG_023227.1:g.13981_13984del, NG_023227.1:g.13982_13984del, NG_023227.1:g.13983_13984del, NG_023227.1:g.13984del, NG_023227.1:g.13984dup, NG_023227.1:g.13983_13984dup, NG_023227.1:g.13982_13984dup, NG_023227.1:g.13981_13984dup, NG_023227.1:g.13980_13984dup, NG_023227.1:g.13979_13984dup, NG_023227.1:g.13978_13984dup, NG_023227.1:g.13977_13984dup, NG_023227.1:g.13976_13984dup, NG_023227.1:g.13975_13984dup, NG_023227.1:g.13974_13984dup, NG_023227.1:g.13973_13984dup, NG_023227.1:g.13972_13984dup, NG_023227.1:g.13971_13984dup, NG_023227.1:g.13970_13984dup, NG_023227.1:g.13969_13984dup, NG_023227.1:g.13968_13984dup, NG_023227.1:g.13967_13984dup, NG_023227.1:g.13966_13984dup, NG_023227.1:g.13965_13984dup, NG_023227.1:g.13964_13984dup, NG_023227.1:g.13963_13984dup, NG_023227.1:g.13962_13984dup, NG_023227.1:g.13961_13984dup, NG_023227.1:g.13960_13984dup, NG_023227.1:g.13959_13984dup, NG_023227.1:g.13958_13984dup, NG_023227.1:g.13957_13984dup, NG_023227.1:g.13956_13984dup, NG_023227.1:g.13955_13984dup, NG_023227.1:g.13984_13985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023227.1:g.13984_13985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023227.1:g.13984_13985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_014391.3:c.*558_*574del, NM_014391.3:c.*559_*574del, NM_014391.3:c.*560_*574del, NM_014391.3:c.*561_*574del, NM_014391.3:c.*562_*574del, NM_014391.3:c.*563_*574del, NM_014391.3:c.*564_*574del, NM_014391.3:c.*565_*574del, NM_014391.3:c.*566_*574del, NM_014391.3:c.*567_*574del, NM_014391.3:c.*568_*574del, NM_014391.3:c.*569_*574del, NM_014391.3:c.*570_*574del, NM_014391.3:c.*571_*574del, NM_014391.3:c.*572_*574del, NM_014391.3:c.*573_*574del, NM_014391.3:c.*574del, NM_014391.3:c.*574dup, NM_014391.3:c.*573_*574dup, NM_014391.3:c.*572_*574dup, NM_014391.3:c.*571_*574dup, NM_014391.3:c.*570_*574dup, NM_014391.3:c.*569_*574dup, NM_014391.3:c.*568_*574dup, NM_014391.3:c.*567_*574dup, NM_014391.3:c.*566_*574dup, NM_014391.3:c.*565_*574dup, NM_014391.3:c.*564_*574dup, NM_014391.3:c.*563_*574dup, NM_014391.3:c.*562_*574dup, NM_014391.3:c.*561_*574dup, NM_014391.3:c.*560_*574dup, NM_014391.3:c.*559_*574dup, NM_014391.3:c.*558_*574dup, NM_014391.3:c.*557_*574dup, NM_014391.3:c.*556_*574dup, NM_014391.3:c.*555_*574dup, NM_014391.3:c.*554_*574dup, NM_014391.3:c.*553_*574dup, NM_014391.3:c.*552_*574dup, NM_014391.3:c.*551_*574dup, NM_014391.3:c.*550_*574dup, NM_014391.3:c.*549_*574dup, NM_014391.3:c.*548_*574dup, NM_014391.3:c.*547_*574dup, NM_014391.3:c.*546_*574dup, NM_014391.3:c.*545_*574dup, NM_014391.3:c.*574_*575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_014391.3:c.*574_*575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_014391.3:c.*574_*575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_014391.2:c.*558_*574del, NM_014391.2:c.*559_*574del, NM_014391.2:c.*560_*574del, NM_014391.2:c.*561_*574del, NM_014391.2:c.*562_*574del, NM_014391.2:c.*563_*574del, NM_014391.2:c.*564_*574del, NM_014391.2:c.*565_*574del, NM_014391.2:c.*566_*574del, NM_014391.2:c.*567_*574del, NM_014391.2:c.*568_*574del, NM_014391.2:c.*569_*574del, NM_014391.2:c.*570_*574del, NM_014391.2:c.*571_*574del, NM_014391.2:c.*572_*574del, NM_014391.2:c.*573_*574del, NM_014391.2:c.*574del, NM_014391.2:c.*574dup, NM_014391.2:c.*573_*574dup, NM_014391.2:c.*572_*574dup, NM_014391.2:c.*571_*574dup, NM_014391.2:c.*570_*574dup, NM_014391.2:c.*569_*574dup, NM_014391.2:c.*568_*574dup, NM_014391.2:c.*567_*574dup, NM_014391.2:c.*566_*574dup, NM_014391.2:c.*565_*574dup, NM_014391.2:c.*564_*574dup, NM_014391.2:c.*563_*574dup, NM_014391.2:c.*562_*574dup, NM_014391.2:c.*561_*574dup, NM_014391.2:c.*560_*574dup, NM_014391.2:c.*559_*574dup, NM_014391.2:c.*558_*574dup, NM_014391.2:c.*557_*574dup, NM_014391.2:c.*556_*574dup, NM_014391.2:c.*555_*574dup, NM_014391.2:c.*554_*574dup, NM_014391.2:c.*553_*574dup, NM_014391.2:c.*552_*574dup, NM_014391.2:c.*551_*574dup, NM_014391.2:c.*550_*574dup, NM_014391.2:c.*549_*574dup, NM_014391.2:c.*548_*574dup, NM_014391.2:c.*547_*574dup, NM_014391.2:c.*546_*574dup, NM_014391.2:c.*545_*574dup, NM_014391.2:c.*574_*575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_014391.2:c.*574_*575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_014391.2:c.*574_*575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14903546058.

rs1490354605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:90920932 (GRCh38)
10:92680689 (GRCh37)
Canonical SPDI:: NC_000010.11:90920931:A:T
Gene:: ANKRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.90920932A>T, NC_000010.10:g.92680689A>T, NG_023227.1:g.5344T>A

Select item 14902482439.

rs1490248243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:90919125 (GRCh38)
10:92678882 (GRCh37)
Canonical SPDI:: NC_000010.11:90919124:C:T
Gene:: ANKRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (KOREAN)
T=0.00007/1 (TOMMO)
T=0.00109/2 (Korea1K)
HGVS:: NC_000010.11:g.90919125C>T, NC_000010.10:g.92678882C>T, NG_023227.1:g.7151G>A

Select item 149024055010.

rs1490240550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:90918822 (GRCh38)
10:92678579 (GRCh37)
Canonical SPDI:: NC_000010.11:90918821:A:G
Gene:: ANKRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.90918822A>G, NC_000010.10:g.92678579A>G, NG_023227.1:g.7454T>C

Select item 148978463711.

rs1489784637 [Homo sapiens]

Variant type:: DEL
Alleles:: AGAT>- [Show Flanks]
Chromosome:: 10:90910957 (GRCh38)
10:92670714 (GRCh37)
Canonical SPDI:: NC_000010.11:90910956:AGAT:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000285/4 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000285/40 (GnomAD)
-=0.000312/2 (1000Genomes)
-=0.000408/108 (TOPMED)
HGVS:: NC_000010.11:g.90910957_90910960del, NC_000010.10:g.92670714_92670717del, NG_023227.1:g.15316_15319del

Select item 148970909412.

rs1489709094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:90921222 (GRCh38)
10:92680979 (GRCh37)
Canonical SPDI:: NC_000010.11:90921221:A:G,NC_000010.11:90921221:A:T
Gene:: ANKRD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.90921222A>G, NC_000010.11:g.90921222A>T, NC_000010.10:g.92680979A>G, NC_000010.10:g.92680979A>T, NG_023227.1:g.5054T>C, NG_023227.1:g.5054T>A, NM_014391.2:c.-195T>C, NM_014391.2:c.-195T>A

Select item 148926580913.

rs1489265809 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148883539214.

rs1488835392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:90926049 (GRCh38)
10:92685806 (GRCh37)
Canonical SPDI:: NC_000010.11:90926048:C:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.90926049C>G, NC_000010.10:g.92685806C>G, NG_023227.1:g.227G>C

Select item 148877715515.

rs1488777155 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:90910370 (GRCh38)
10:92670127 (GRCh37)
Canonical SPDI:: NC_000010.11:90910369:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.90910370T>C, NC_000010.10:g.92670127T>C, NG_023227.1:g.15906A>G

Select item 148874492516.

rs1488744925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:90923454 (GRCh38)
10:92683211 (GRCh37)
Canonical SPDI:: NC_000010.11:90923453:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.90923454G>A, NC_000010.10:g.92683211G>A, NG_023227.1:g.2822C>T

Select item 148871442117.

rs1488714421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:90922994 (GRCh38)
10:92682751 (GRCh37)
Canonical SPDI:: NC_000010.11:90922993:G:A
Gene:: ANKRD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.90922994G>A, NC_000010.10:g.92682751G>A, NG_023227.1:g.3282C>T

Select item 148871181318.

rs1488711813 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CC,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 10:90914716 (GRCh38)
10:92674474 (GRCh37)
Canonical SPDI:: NC_000010.11:90914716:CCC:CCCC,NC_000010.11:90914716:CCC:CCCCC,NC_000010.11:90914716:CCC:CCCCCC,NC_000010.11:90914716:CCC:CCCCCCC,NC_000010.11:90914716:CCC:CCCCCCCC
Gene:: ANKRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
C=0.00043/7 (TOMMO)
C=0.00678/4 (NorthernSweden)
HGVS:: NC_000010.11:g.90914719dup, NC_000010.11:g.90914718_90914719dup, NC_000010.11:g.90914717_90914719dup, NC_000010.11:g.90914719_90914720insCCCC, NC_000010.11:g.90914719_90914720insCCCCC, NC_000010.10:g.92674476dup, NC_000010.10:g.92674475_92674476dup, NC_000010.10:g.92674474_92674476dup, NC_000010.10:g.92674476_92674477insCCCC, NC_000010.10:g.92674476_92674477insCCCCC, NG_023227.1:g.11559dup, NG_023227.1:g.11558_11559dup, NG_023227.1:g.11557_11559dup, NG_023227.1:g.11559_11560insGGGG, NG_023227.1:g.11559_11560insGGGGG

Select item 148863204319.

rs1488632043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:90922355 (GRCh38)
10:92682112 (GRCh37)
Canonical SPDI:: NC_000010.11:90922354:A:G
Gene:: ANKRD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.90922355A>G, NC_000010.10:g.92682112A>G, NG_023227.1:g.3921T>C

Select item 148836055520.

rs1488360555 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:90917979 (GRCh38)
10:92677736 (GRCh37)
Canonical SPDI:: NC_000010.11:90917978:A:T
Gene:: ANKRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.90917979A>T, NC_000010.10:g.92677736A>T, NG_023227.1:g.8297T>A

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