SNP Links for Nucleotide (Select 189339227) - SNP

Links from Nucleotide

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Select item 14913454411.

rs1491345441 has merged into rs34955990 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:99707766 (GRCh38)
14:100174103 (GRCh37)
Canonical SPDI:: NC_000014.9:99707755:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:99707755:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:99707755:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:99707755:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:99707755:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:99707755:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:99707755:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:99707755:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:99707755:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CYP46A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3074/1140 (TWINSUK)
-=0.314/1210 (ALSPAC)
-=0.325/13 (GENOME_DK)
T=0.4407/2207 (1000Genomes)
HGVS:: NC_000014.9:g.99707766_99707769del, NC_000014.9:g.99707767_99707769del, NC_000014.9:g.99707768_99707769del, NC_000014.9:g.99707769del, NC_000014.9:g.99707769dup, NC_000014.9:g.99707768_99707769dup, NC_000014.9:g.99707767_99707769dup, NC_000014.9:g.99707766_99707769dup, NC_000014.9:g.99707758_99707769dup, NC_000014.8:g.100174103_100174106del, NC_000014.8:g.100174104_100174106del, NC_000014.8:g.100174105_100174106del, NC_000014.8:g.100174106del, NC_000014.8:g.100174106dup, NC_000014.8:g.100174105_100174106dup, NC_000014.8:g.100174104_100174106dup, NC_000014.8:g.100174103_100174106dup, NC_000014.8:g.100174095_100174106dup, NG_007963.1:g.28349_28352del, NG_007963.1:g.28350_28352del, NG_007963.1:g.28351_28352del, NG_007963.1:g.28352del, NG_007963.1:g.28352dup, NG_007963.1:g.28351_28352dup, NG_007963.1:g.28350_28352dup, NG_007963.1:g.28349_28352dup, NG_007963.1:g.28341_28352dup

Select item 14913285202.

rs1491328520 has merged into rs55891116 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:99719768 (GRCh38)
14:100186105 (GRCh37)
Canonical SPDI:: NC_000014.9:99719761:TTTTTTTTTTTTTTTTTT:TTTTTT,NC_000014.9:99719761:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000014.9:99719761:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:99719761:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:99719761:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:99719761:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:99719761:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:99719761:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:99719761:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:99719761:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:99719761:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:99719761:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: CYP46A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.0119/44 (TWINSUK)
T=0.013/50 (ALSPAC)
T=0.45/18 (GENOME_DK)
HGVS:: NC_000014.9:g.99719768_99719779del, NC_000014.9:g.99719769_99719779del, NC_000014.9:g.99719771_99719779del, NC_000014.9:g.99719772_99719779del, NC_000014.9:g.99719774_99719779del, NC_000014.9:g.99719776_99719779del, NC_000014.9:g.99719777_99719779del, NC_000014.9:g.99719778_99719779del, NC_000014.9:g.99719779del, NC_000014.9:g.99719779dup, NC_000014.9:g.99719778_99719779dup, NC_000014.9:g.99719776_99719779dup, NC_000014.8:g.100186105_100186116del, NC_000014.8:g.100186106_100186116del, NC_000014.8:g.100186108_100186116del, NC_000014.8:g.100186109_100186116del, NC_000014.8:g.100186111_100186116del, NC_000014.8:g.100186113_100186116del, NC_000014.8:g.100186114_100186116del, NC_000014.8:g.100186115_100186116del, NC_000014.8:g.100186116del, NC_000014.8:g.100186116dup, NC_000014.8:g.100186115_100186116dup, NC_000014.8:g.100186113_100186116dup, NG_007963.1:g.40351_40362del, NG_007963.1:g.40352_40362del, NG_007963.1:g.40354_40362del, NG_007963.1:g.40355_40362del, NG_007963.1:g.40357_40362del, NG_007963.1:g.40359_40362del, NG_007963.1:g.40360_40362del, NG_007963.1:g.40361_40362del, NG_007963.1:g.40362del, NG_007963.1:g.40362dup, NG_007963.1:g.40361_40362dup, NG_007963.1:g.40359_40362dup

Select item 14913094703.

rs1491309470 has merged into rs1273289722 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC [Show Flanks]
Chromosome:: 14:99685095 (GRCh38)
14:100151432 (GRCh37)
Canonical SPDI:: NC_000014.9:99685088:CCCCCCCCC:CCCCCC,NC_000014.9:99685088:CCCCCCCCC:CCCCCCC,NC_000014.9:99685088:CCCCCCCCC:CCCCCCCC,NC_000014.9:99685088:CCCCCCCCC:CCCCCCCCCC,NC_000014.9:99685088:CCCCCCCCC:CCCCCCCCCCC
Gene:: CYP46A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
C=0.00236/18 (TOMMO)
HGVS:: NC_000014.9:g.99685095_99685097del, NC_000014.9:g.99685096_99685097del, NC_000014.9:g.99685097del, NC_000014.9:g.99685097dup, NC_000014.9:g.99685096_99685097dup, NC_000014.8:g.100151432_100151434del, NC_000014.8:g.100151433_100151434del, NC_000014.8:g.100151434del, NC_000014.8:g.100151434dup, NC_000014.8:g.100151433_100151434dup, NG_007963.1:g.5678_5680del, NG_007963.1:g.5679_5680del, NG_007963.1:g.5680del, NG_007963.1:g.5680dup, NG_007963.1:g.5679_5680dup

Select item 14912372254.

rs1491237225 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCG,TGTGCG,TGTGTGCG,TGTGTGTGCG,TGTGTGTGCGCG,TGTGTGTGTGCG,TGTGTGTGTGCGCG,TGTGTGTGTGTGCG,TGTGTGTGTGTGCGCG,TGTGTGTGTGTGTGCG,TGTGTGTGTGTGTGTGCG [Show Flanks]
Chromosome:: 14:99722678 (GRCh38)
14:100189016 (GRCh37)
Canonical SPDI:: NC_000014.9:99722678:G:GTGCG,NC_000014.9:99722678:G:GTGTGCG,NC_000014.9:99722678:G:GTGTGTGCG,NC_000014.9:99722678:G:GTGTGTGTGCG,NC_000014.9:99722678:G:GTGTGTGTGCGCG,NC_000014.9:99722678:G:GTGTGTGTGTGCG,NC_000014.9:99722678:G:GTGTGTGTGTGCGCG,NC_000014.9:99722678:G:GTGTGTGTGTGTGCG,NC_000014.9:99722678:G:GTGTGTGTGTGTGCGCG,NC_000014.9:99722678:G:GTGTGTGTGTGTGTGCG,NC_000014.9:99722678:G:GTGTGTGTGTGTGTGTGCG
Gene:: CYP46A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGCG=0./0 (ALFA)
GTGTGTGTGTGTGC=0.00004/1 (TOMMO)
HGVS:: NC_000014.9:g.99722679_99722680insTGCG, NC_000014.9:g.99722679GT[2]GCG[1], NC_000014.9:g.99722679GT[3]GCG[1], NC_000014.9:g.99722679GT[4]GCG[1], NC_000014.9:g.99722679GT[4]GC[2]G[1], NC_000014.9:g.99722679GT[5]GCG[1], NC_000014.9:g.99722679GT[5]GC[2]G[1], NC_000014.9:g.99722679GT[6]GCG[1], NC_000014.9:g.99722679GT[6]GC[2]G[1], NC_000014.9:g.99722679GT[7]GCG[1], NC_000014.9:g.99722679GT[8]GCG[1], NC_000014.8:g.100189016_100189017insTGCG, NC_000014.8:g.100189016GT[2]GCG[1], NC_000014.8:g.100189016GT[3]GCG[1], NC_000014.8:g.100189016GT[4]GCG[1], NC_000014.8:g.100189016GT[4]GC[2]G[1], NC_000014.8:g.100189016GT[5]GCG[1], NC_000014.8:g.100189016GT[5]GC[2]G[1], NC_000014.8:g.100189016GT[6]GCG[1], NC_000014.8:g.100189016GT[6]GC[2]G[1], NC_000014.8:g.100189016GT[7]GCG[1], NC_000014.8:g.100189016GT[8]GCG[1], NG_007963.1:g.43262_43263insTGCG, NG_007963.1:g.43262GT[2]GCG[1], NG_007963.1:g.43262GT[3]GCG[1], NG_007963.1:g.43262GT[4]GCG[1], NG_007963.1:g.43262GT[4]GC[2]G[1], NG_007963.1:g.43262GT[5]GCG[1], NG_007963.1:g.43262GT[5]GC[2]G[1], NG_007963.1:g.43262GT[6]GCG[1], NG_007963.1:g.43262GT[6]GC[2]G[1], NG_007963.1:g.43262GT[7]GCG[1], NG_007963.1:g.43262GT[8]GCG[1]

Select item 14912332895.

rs1491233289 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 14:99685088 (GRCh38)
14:100151425 (GRCh37)
Canonical SPDI:: NC_000014.9:99685087:AC:
Gene:: CYP46A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.01855/220 (ALFA)
HGVS:: NC_000014.9:g.99685088_99685089del, NC_000014.8:g.100151425_100151426del, NG_007963.1:g.5671_5672del

Select item 14911370296.

rs1491137029 has merged into rs35267715 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 14:99713449 (GRCh38)
14:100179786 (GRCh37)
Canonical SPDI:: NC_000014.9:99713437:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:99713437:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:99713437:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:99713437:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:99713437:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:99713437:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:99713437:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: CYP46A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3017/1511 (1000Genomes)
HGVS:: NC_000014.9:g.99713449_99713452del, NC_000014.9:g.99713450_99713452del, NC_000014.9:g.99713451_99713452del, NC_000014.9:g.99713452del, NC_000014.9:g.99713452dup, NC_000014.9:g.99713451_99713452dup, NC_000014.9:g.99713450_99713452dup, NC_000014.8:g.100179786_100179789del, NC_000014.8:g.100179787_100179789del, NC_000014.8:g.100179788_100179789del, NC_000014.8:g.100179789del, NC_000014.8:g.100179789dup, NC_000014.8:g.100179788_100179789dup, NC_000014.8:g.100179787_100179789dup, NG_007963.1:g.34032_34035del, NG_007963.1:g.34033_34035del, NG_007963.1:g.34034_34035del, NG_007963.1:g.34035del, NG_007963.1:g.34035dup, NG_007963.1:g.34034_34035dup, NG_007963.1:g.34033_34035dup

Select item 14910693957.

rs1491069395 has merged into rs71113218 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:99713878 (GRCh38)
14:100180215 (GRCh37)
Canonical SPDI:: NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99713865:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CYP46A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.99713878_99713890del, NC_000014.9:g.99713879_99713890del, NC_000014.9:g.99713880_99713890del, NC_000014.9:g.99713881_99713890del, NC_000014.9:g.99713882_99713890del, NC_000014.9:g.99713884_99713890del, NC_000014.9:g.99713885_99713890del, NC_000014.9:g.99713886_99713890del, NC_000014.9:g.99713887_99713890del, NC_000014.9:g.99713888_99713890del, NC_000014.9:g.99713889_99713890del, NC_000014.9:g.99713890del, NC_000014.9:g.99713890dup, NC_000014.9:g.99713889_99713890dup, NC_000014.9:g.99713888_99713890dup, NC_000014.9:g.99713887_99713890dup, NC_000014.9:g.99713886_99713890dup, NC_000014.9:g.99713885_99713890dup, NC_000014.9:g.99713884_99713890dup, NC_000014.9:g.99713883_99713890dup, NC_000014.9:g.99713882_99713890dup, NC_000014.9:g.99713881_99713890dup, NC_000014.9:g.99713880_99713890dup, NC_000014.9:g.99713877_99713890dup, NC_000014.9:g.99713875_99713890dup, NC_000014.9:g.99713874_99713890dup, NC_000014.8:g.100180215_100180227del, NC_000014.8:g.100180216_100180227del, NC_000014.8:g.100180217_100180227del, NC_000014.8:g.100180218_100180227del, NC_000014.8:g.100180219_100180227del, NC_000014.8:g.100180221_100180227del, NC_000014.8:g.100180222_100180227del, NC_000014.8:g.100180223_100180227del, NC_000014.8:g.100180224_100180227del, NC_000014.8:g.100180225_100180227del, NC_000014.8:g.100180226_100180227del, NC_000014.8:g.100180227del, NC_000014.8:g.100180227dup, NC_000014.8:g.100180226_100180227dup, NC_000014.8:g.100180225_100180227dup, NC_000014.8:g.100180224_100180227dup, NC_000014.8:g.100180223_100180227dup, NC_000014.8:g.100180222_100180227dup, NC_000014.8:g.100180221_100180227dup, NC_000014.8:g.100180220_100180227dup, NC_000014.8:g.100180219_100180227dup, NC_000014.8:g.100180218_100180227dup, NC_000014.8:g.100180217_100180227dup, NC_000014.8:g.100180214_100180227dup, NC_000014.8:g.100180212_100180227dup, NC_000014.8:g.100180211_100180227dup, NG_007963.1:g.34461_34473del, NG_007963.1:g.34462_34473del, NG_007963.1:g.34463_34473del, NG_007963.1:g.34464_34473del, NG_007963.1:g.34465_34473del, NG_007963.1:g.34467_34473del, NG_007963.1:g.34468_34473del, NG_007963.1:g.34469_34473del, NG_007963.1:g.34470_34473del, NG_007963.1:g.34471_34473del, NG_007963.1:g.34472_34473del, NG_007963.1:g.34473del, NG_007963.1:g.34473dup, NG_007963.1:g.34472_34473dup, NG_007963.1:g.34471_34473dup, NG_007963.1:g.34470_34473dup, NG_007963.1:g.34469_34473dup, NG_007963.1:g.34468_34473dup, NG_007963.1:g.34467_34473dup, NG_007963.1:g.34466_34473dup, NG_007963.1:g.34465_34473dup, NG_007963.1:g.34464_34473dup, NG_007963.1:g.34463_34473dup, NG_007963.1:g.34460_34473dup, NG_007963.1:g.34458_34473dup, NG_007963.1:g.34457_34473dup

Select item 14910201458.

rs1491020145 has merged into rs34168201 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:99720469 (GRCh38)
14:100186806 (GRCh37)
Canonical SPDI:: NC_000014.9:99720459:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:99720459:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:99720459:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:99720459:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:99720459:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:99720459:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:99720459:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:99720459:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:99720459:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:99720459:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:99720459:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:99720459:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CYP46A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.99720469_99720477del, NC_000014.9:g.99720472_99720477del, NC_000014.9:g.99720473_99720477del, NC_000014.9:g.99720475_99720477del, NC_000014.9:g.99720476_99720477del, NC_000014.9:g.99720477del, NC_000014.9:g.99720477dup, NC_000014.9:g.99720476_99720477dup, NC_000014.9:g.99720475_99720477dup, NC_000014.9:g.99720474_99720477dup, NC_000014.9:g.99720473_99720477dup, NC_000014.9:g.99720471_99720477dup, NC_000014.8:g.100186806_100186814del, NC_000014.8:g.100186809_100186814del, NC_000014.8:g.100186810_100186814del, NC_000014.8:g.100186812_100186814del, NC_000014.8:g.100186813_100186814del, NC_000014.8:g.100186814del, NC_000014.8:g.100186814dup, NC_000014.8:g.100186813_100186814dup, NC_000014.8:g.100186812_100186814dup, NC_000014.8:g.100186811_100186814dup, NC_000014.8:g.100186810_100186814dup, NC_000014.8:g.100186808_100186814dup, NG_007963.1:g.41052_41060del, NG_007963.1:g.41055_41060del, NG_007963.1:g.41056_41060del, NG_007963.1:g.41058_41060del, NG_007963.1:g.41059_41060del, NG_007963.1:g.41060del, NG_007963.1:g.41060dup, NG_007963.1:g.41059_41060dup, NG_007963.1:g.41058_41060dup, NG_007963.1:g.41057_41060dup, NG_007963.1:g.41056_41060dup, NG_007963.1:g.41054_41060dup

Select item 14909389579.

rs1490938957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:99714033 (GRCh38)
14:100180370 (GRCh37)
Canonical SPDI:: NC_000014.9:99714032:A:C
Gene:: CYP46A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.99714033A>C, NC_000014.8:g.100180370A>C, NG_007963.1:g.34616A>C

Select item 149071095410.

rs1490710954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:99721755 (GRCh38)
14:100188092 (GRCh37)
Canonical SPDI:: NC_000014.9:99721754:C:T
Gene:: CYP46A1 (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_000014.9:g.99721755C>T, NC_000014.8:g.100188092C>T, NG_007963.1:g.42338C>T

Select item 149068226911.

rs1490682269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:99707000 (GRCh38)
14:100173337 (GRCh37)
Canonical SPDI:: NC_000014.9:99706999:G:A
Gene:: CYP46A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.99707000G>A, NC_000014.8:g.100173337G>A, NG_007963.1:g.27583G>A

Select item 149056608512.

rs1490566085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:99705173 (GRCh38)
14:100171510 (GRCh37)
Canonical SPDI:: NC_000014.9:99705172:A:T
Gene:: CYP46A1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.99705173A>T, NC_000014.8:g.100171510A>T, NG_007963.1:g.25756A>T

Select item 149052552113.

rs1490525521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:99690184 (GRCh38)
14:100156521 (GRCh37)
Canonical SPDI:: NC_000014.9:99690183:T:C
Gene:: CYP46A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000014.9:g.99690184T>C, NC_000014.8:g.100156521T>C, NG_007963.1:g.10767T>C

Select item 149040838914.

rs1490408389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:99709766 (GRCh38)
14:100176103 (GRCh37)
Canonical SPDI:: NC_000014.9:99709765:C:T
Gene:: CYP46A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.99709766C>T, NC_000014.8:g.100176103C>T, NG_007963.1:g.30349C>T

Select item 149035920815.

rs1490359208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 14:99684450 (GRCh38)
14:100150787 (GRCh37)
Canonical SPDI:: NC_000014.9:99684449:C:A,NC_000014.9:99684449:C:G
Gene:: CYP46A1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.99684450C>A, NC_000014.9:g.99684450C>G, NC_000014.8:g.100150787C>A, NC_000014.8:g.100150787C>G, NG_007963.1:g.5033C>A, NG_007963.1:g.5033C>G, NM_006668.2:c.33C>A, NM_006668.2:c.33C>G, NM_006668.1:c.33C>A, NM_006668.1:c.33C>G, XM_017020933.3:c.-125C>A, XM_017020933.3:c.-125C>G, XM_017020933.2:c.-125C>A, XM_017020933.2:c.-125C>G, XM_017020933.1:c.-125C>A, XM_017020933.1:c.-125C>G, XM_011536364.2:c.33C>A, XM_011536364.2:c.33C>G, XM_011536364.1:c.33C>A, XM_011536364.1:c.33C>G

Select item 149024395416.

rs1490243954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:99711237 (GRCh38)
14:100177574 (GRCh37)
Canonical SPDI:: NC_000014.9:99711236:T:C
Gene:: CYP46A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.99711237T>C, NC_000014.8:g.100177574T>C, NG_007963.1:g.31820T>C

Select item 149013738417.

rs1490137384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:99714707 (GRCh38)
14:100181044 (GRCh37)
Canonical SPDI:: NC_000014.9:99714706:C:T
Gene:: CYP46A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.99714707C>T, NC_000014.8:g.100181044C>T, NG_007963.1:g.35290C>T

Select item 149009872318.

rs1490098723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:99728056 (GRCh38)
14:100194393 (GRCh37)
Canonical SPDI:: NC_000014.9:99728055:C:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.99728056C>A, NC_000014.8:g.100194393C>A, NG_007963.1:g.48639C>A

Select item 148993591619.

rs1489935916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:99727667 (GRCh38)
14:100194004 (GRCh37)
Canonical SPDI:: NC_000014.9:99727666:T:C
Gene:: CYP46A1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.99727667T>C, NC_000014.8:g.100194004T>C, NG_007963.1:g.48250T>C

Select item 148987978520.

rs1489879785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:99728468 (GRCh38)
14:100194805 (GRCh37)
Canonical SPDI:: NC_000014.9:99728467:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000049/13 (TOPMED)
A=0.000177/3 (TOMMO)
HGVS:: NC_000014.9:g.99728468G>A, NC_000014.8:g.100194805G>A, NG_007963.1:g.49051G>A

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