SNP Links for Nucleotide (Select 260593635) - SNP

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Select item 14915823441.

rs1491582344 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTTA [Show Flanks]
Chromosome:: 19:48810753 (GRCh38)
19:49314011 (GRCh37)
Canonical SPDI:: NC_000019.10:48810753::TA,NC_000019.10:48810753::TTTA
Gene:: BCAT2 (Varview), LOC105372432 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0.000934/11 (ALFA)
TA=0.006065/759 (GnomAD)
TA=0.009681/62 (1000Genomes)
HGVS:: NC_000019.10:g.48810753_48810754insTA, NC_000019.10:g.48810753_48810754insTTTA, NC_000019.9:g.49314010_49314011insTA, NC_000019.9:g.49314010_49314011insTTTA, NG_013003.1:g.5310_5311insTA, NG_013003.1:g.5310_5311insTAAA, XR_936017.4:n.572_573insTA, XR_936017.4:n.572_573insTTTA, XR_936017.3:n.1217_1218insTA, XR_936017.3:n.1217_1218insTTTA, XR_936017.2:n.688_689insTA, XR_936017.2:n.688_689insTTTA, XR_936017.1:n.860_861insTA, XR_936017.1:n.860_861insTTTA, XR_007067287.1:n.1141_1142insTA, XR_007067287.1:n.1141_1142insTTTA

Select item 14915358812.

rs1491535881 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:48812524 (GRCh38)
19:49315781 (GRCh37)
Canonical SPDI:: NC_000019.10:48812523:CT:
Gene:: BCAT2 (Varview), HSD17B14 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000091/24 (TOPMED)
-=0.00015/11 (GnomAD)
HGVS:: NC_000019.10:g.48812524_48812525del, NC_000019.9:g.49315781_49315782del, NG_013003.1:g.3539_3540del, NG_070956.1:g.517_518del

Select item 14914327413.

rs1491432741 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG,TTA [Show Flanks]
Chromosome:: 19:48802465 (GRCh38)
19:49305723 (GRCh37)
Canonical SPDI:: NC_000019.10:48802465::TG,NC_000019.10:48802465::TTA
Gene:: BCAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TG=0.000009/1 (GnomAD)
HGVS:: NC_000019.10:g.48802465_48802466insTG, NC_000019.10:g.48802465_48802466insTTA, NC_000019.9:g.49305722_49305723insTG, NC_000019.9:g.49305722_49305723insTTA, NG_013003.1:g.13598_13599insCA, NG_013003.1:g.13598_13599insTAA

Select item 14914255554.

rs1491425555 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:48810753 (GRCh38)
19:49314010 (GRCh37)
Canonical SPDI:: NC_000019.10:48810752:TA:
Gene:: BCAT2 (Varview), LOC105372432 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00022/4 (TOMMO)
HGVS:: NC_000019.10:g.48810753_48810754del, NC_000019.9:g.49314010_49314011del, NG_013003.1:g.5310_5311del, XR_936017.4:n.572_573del, XR_936017.3:n.1217_1218del, XR_936017.2:n.688_689del, XR_936017.1:n.860_861del, XR_007067287.1:n.1141_1142del

Select item 14913734435.

rs1491373443 has merged into rs541516179 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:48814853 (GRCh38)
19:49318110 (GRCh37)
Canonical SPDI:: NC_000019.10:48814851:AGA:A
Gene:: HSD17B14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.021497/255 (ALFA)
-=0.002103/35 (TOMMO)
-=0.014208/26 (Korea1K)
-=0.036877/4263 (GnomAD)
HGVS:: NC_000019.10:g.48814853_48814854del, NC_000019.9:g.49318110_49318111del, NG_013003.1:g.1211_1212del

Select item 14912617366.

rs1491261736 has merged into rs35775607 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:48802452 (GRCh38)
19:49305709 (GRCh37)
Canonical SPDI:: NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48802441:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BCAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.48802452_48802465del, NC_000019.10:g.48802453_48802465del, NC_000019.10:g.48802455_48802465del, NC_000019.10:g.48802456_48802465del, NC_000019.10:g.48802458_48802465del, NC_000019.10:g.48802459_48802465del, NC_000019.10:g.48802460_48802465del, NC_000019.10:g.48802461_48802465del, NC_000019.10:g.48802462_48802465del, NC_000019.10:g.48802463_48802465del, NC_000019.10:g.48802464_48802465del, NC_000019.10:g.48802465del, NC_000019.10:g.48802465dup, NC_000019.10:g.48802464_48802465dup, NC_000019.10:g.48802463_48802465dup, NC_000019.10:g.48802462_48802465dup, NC_000019.10:g.48802461_48802465dup, NC_000019.10:g.48802460_48802465dup, NC_000019.10:g.48802459_48802465dup, NC_000019.10:g.48802458_48802465dup, NC_000019.10:g.48802457_48802465dup, NC_000019.10:g.48802465_48802466insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.48802465_48802466insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49305709_49305722del, NC_000019.9:g.49305710_49305722del, NC_000019.9:g.49305712_49305722del, NC_000019.9:g.49305713_49305722del, NC_000019.9:g.49305715_49305722del, NC_000019.9:g.49305716_49305722del, NC_000019.9:g.49305717_49305722del, NC_000019.9:g.49305718_49305722del, NC_000019.9:g.49305719_49305722del, NC_000019.9:g.49305720_49305722del, NC_000019.9:g.49305721_49305722del, NC_000019.9:g.49305722del, NC_000019.9:g.49305722dup, NC_000019.9:g.49305721_49305722dup, NC_000019.9:g.49305720_49305722dup, NC_000019.9:g.49305719_49305722dup, NC_000019.9:g.49305718_49305722dup, NC_000019.9:g.49305717_49305722dup, NC_000019.9:g.49305716_49305722dup, NC_000019.9:g.49305715_49305722dup, NC_000019.9:g.49305714_49305722dup, NC_000019.9:g.49305722_49305723insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49305722_49305723insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013003.1:g.13609_13622del, NG_013003.1:g.13610_13622del, NG_013003.1:g.13612_13622del, NG_013003.1:g.13613_13622del, NG_013003.1:g.13615_13622del, NG_013003.1:g.13616_13622del, NG_013003.1:g.13617_13622del, NG_013003.1:g.13618_13622del, NG_013003.1:g.13619_13622del, NG_013003.1:g.13620_13622del, NG_013003.1:g.13621_13622del, NG_013003.1:g.13622del, NG_013003.1:g.13622dup, NG_013003.1:g.13621_13622dup, NG_013003.1:g.13620_13622dup, NG_013003.1:g.13619_13622dup, NG_013003.1:g.13618_13622dup, NG_013003.1:g.13617_13622dup, NG_013003.1:g.13616_13622dup, NG_013003.1:g.13615_13622dup, NG_013003.1:g.13614_13622dup, NG_013003.1:g.13622_13623insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_013003.1:g.13622_13623insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911897967.

rs1491189796 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:48802465 (GRCh38)
19:49305722 (GRCh37)
Canonical SPDI:: NC_000019.10:48802464:TG:
Gene:: BCAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000077/9 (GnomAD)
HGVS:: NC_000019.10:g.48802465_48802466del, NC_000019.9:g.49305722_49305723del, NG_013003.1:g.13598_13599del

Select item 14911105678.

rs1491110567 [Homo sapiens]

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

Select item 14910832009.

rs1491083200 has merged into rs34719140 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:48798797 (GRCh38)
19:49302054 (GRCh37)
Canonical SPDI:: NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48798791:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BCAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000019.10:g.48798797_48798809del, NC_000019.10:g.48798802_48798809del, NC_000019.10:g.48798804_48798809del, NC_000019.10:g.48798805_48798809del, NC_000019.10:g.48798806_48798809del, NC_000019.10:g.48798808_48798809del, NC_000019.10:g.48798809del, NC_000019.10:g.48798809dup, NC_000019.10:g.48798808_48798809dup, NC_000019.10:g.48798807_48798809dup, NC_000019.10:g.48798806_48798809dup, NC_000019.10:g.48798805_48798809dup, NC_000019.10:g.48798804_48798809dup, NC_000019.10:g.48798803_48798809dup, NC_000019.10:g.48798799_48798809dup, NC_000019.10:g.48798798_48798809dup, NC_000019.9:g.49302054_49302066del, NC_000019.9:g.49302059_49302066del, NC_000019.9:g.49302061_49302066del, NC_000019.9:g.49302062_49302066del, NC_000019.9:g.49302063_49302066del, NC_000019.9:g.49302065_49302066del, NC_000019.9:g.49302066del, NC_000019.9:g.49302066dup, NC_000019.9:g.49302065_49302066dup, NC_000019.9:g.49302064_49302066dup, NC_000019.9:g.49302063_49302066dup, NC_000019.9:g.49302062_49302066dup, NC_000019.9:g.49302061_49302066dup, NC_000019.9:g.49302060_49302066dup, NC_000019.9:g.49302056_49302066dup, NC_000019.9:g.49302055_49302066dup, NG_013003.1:g.17260_17272del, NG_013003.1:g.17265_17272del, NG_013003.1:g.17267_17272del, NG_013003.1:g.17268_17272del, NG_013003.1:g.17269_17272del, NG_013003.1:g.17271_17272del, NG_013003.1:g.17272del, NG_013003.1:g.17272dup, NG_013003.1:g.17271_17272dup, NG_013003.1:g.17270_17272dup, NG_013003.1:g.17269_17272dup, NG_013003.1:g.17268_17272dup, NG_013003.1:g.17267_17272dup, NG_013003.1:g.17266_17272dup, NG_013003.1:g.17262_17272dup, NG_013003.1:g.17261_17272dup

Select item 149106789710.

rs1491067897 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:48802444 (GRCh38)
19:49305702 (GRCh37)
Canonical SPDI:: NC_000019.10:48802444::C
Gene:: BCAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.48802444_48802445insC, NC_000019.9:g.49305701_49305702insC, NG_013003.1:g.13619_13620insG

Select item 149102794911.

rs1491027949 has merged into rs540607934 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:48812142 (GRCh38)
19:49315399 (GRCh37)
Canonical SPDI:: NC_000019.10:48812129:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:48812129:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:48812129:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:48812129:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:48812129:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:48812129:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:48812129:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:48812129:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48812129:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48812129:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BCAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3067/1536 (1000Genomes)
HGVS:: NC_000019.10:g.48812142_48812147del, NC_000019.10:g.48812144_48812147del, NC_000019.10:g.48812145_48812147del, NC_000019.10:g.48812146_48812147del, NC_000019.10:g.48812147del, NC_000019.10:g.48812147dup, NC_000019.10:g.48812146_48812147dup, NC_000019.10:g.48812145_48812147dup, NC_000019.10:g.48812144_48812147dup, NC_000019.10:g.48812142_48812147dup, NC_000019.9:g.49315399_49315404del, NC_000019.9:g.49315401_49315404del, NC_000019.9:g.49315402_49315404del, NC_000019.9:g.49315403_49315404del, NC_000019.9:g.49315404del, NC_000019.9:g.49315404dup, NC_000019.9:g.49315403_49315404dup, NC_000019.9:g.49315402_49315404dup, NC_000019.9:g.49315401_49315404dup, NC_000019.9:g.49315399_49315404dup, NG_013003.1:g.3929_3934del, NG_013003.1:g.3931_3934del, NG_013003.1:g.3932_3934del, NG_013003.1:g.3933_3934del, NG_013003.1:g.3934del, NG_013003.1:g.3934dup, NG_013003.1:g.3933_3934dup, NG_013003.1:g.3932_3934dup, NG_013003.1:g.3931_3934dup, NG_013003.1:g.3929_3934dup, NG_070956.1:g.135_140del, NG_070956.1:g.137_140del, NG_070956.1:g.138_140del, NG_070956.1:g.139_140del, NG_070956.1:g.140del, NG_070956.1:g.140dup, NG_070956.1:g.139_140dup, NG_070956.1:g.138_140dup, NG_070956.1:g.137_140dup, NG_070956.1:g.135_140dup

Select item 149101295812.

rs1491012958 has merged into rs35945446 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 19:48810748 (GRCh38)
19:49314005 (GRCh37)
Canonical SPDI:: NC_000019.10:48810736:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:48810736:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:48810736:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:48810736:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:48810736:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:48810736:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:48810736:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:48810736:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:48810736:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:48810736:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48810736:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: BCAT2 (Varview), LOC105372432 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3019/1512 (1000Genomes)
HGVS:: NC_000019.10:g.48810748_48810753del, NC_000019.10:g.48810749_48810753del, NC_000019.10:g.48810750_48810753del, NC_000019.10:g.48810751_48810753del, NC_000019.10:g.48810752_48810753del, NC_000019.10:g.48810753del, NC_000019.10:g.48810753dup, NC_000019.10:g.48810752_48810753dup, NC_000019.10:g.48810751_48810753dup, NC_000019.10:g.48810750_48810753dup, NC_000019.10:g.48810749_48810753dup, NC_000019.9:g.49314005_49314010del, NC_000019.9:g.49314006_49314010del, NC_000019.9:g.49314007_49314010del, NC_000019.9:g.49314008_49314010del, NC_000019.9:g.49314009_49314010del, NC_000019.9:g.49314010del, NC_000019.9:g.49314010dup, NC_000019.9:g.49314009_49314010dup, NC_000019.9:g.49314008_49314010dup, NC_000019.9:g.49314007_49314010dup, NC_000019.9:g.49314006_49314010dup, NG_013003.1:g.5322_5327del, NG_013003.1:g.5323_5327del, NG_013003.1:g.5324_5327del, NG_013003.1:g.5325_5327del, NG_013003.1:g.5326_5327del, NG_013003.1:g.5327del, NG_013003.1:g.5327dup, NG_013003.1:g.5326_5327dup, NG_013003.1:g.5325_5327dup, NG_013003.1:g.5324_5327dup, NG_013003.1:g.5323_5327dup, XR_936017.4:n.567_572del, XR_936017.4:n.568_572del, XR_936017.4:n.569_572del, XR_936017.4:n.570_572del, XR_936017.4:n.571_572del, XR_936017.4:n.572del, XR_936017.4:n.572dup, XR_936017.4:n.571_572dup, XR_936017.4:n.570_572dup, XR_936017.4:n.569_572dup, XR_936017.4:n.568_572dup, XR_936017.3:n.1212_1217del, XR_936017.3:n.1213_1217del, XR_936017.3:n.1214_1217del, XR_936017.3:n.1215_1217del, XR_936017.3:n.1216_1217del, XR_936017.3:n.1217del, XR_936017.3:n.1217dup, XR_936017.3:n.1216_1217dup, XR_936017.3:n.1215_1217dup, XR_936017.3:n.1214_1217dup, XR_936017.3:n.1213_1217dup, XR_936017.2:n.683_688del, XR_936017.2:n.684_688del, XR_936017.2:n.685_688del, XR_936017.2:n.686_688del, XR_936017.2:n.687_688del, XR_936017.2:n.688del, XR_936017.2:n.688dup, XR_936017.2:n.687_688dup, XR_936017.2:n.686_688dup, XR_936017.2:n.685_688dup, XR_936017.2:n.684_688dup, XR_936017.1:n.855_860del, XR_936017.1:n.856_860del, XR_936017.1:n.857_860del, XR_936017.1:n.858_860del, XR_936017.1:n.859_860del, XR_936017.1:n.860del, XR_936017.1:n.860dup, XR_936017.1:n.859_860dup, XR_936017.1:n.858_860dup, XR_936017.1:n.857_860dup, XR_936017.1:n.856_860dup, XR_007067287.1:n.1136_1141del, XR_007067287.1:n.1137_1141del, XR_007067287.1:n.1138_1141del, XR_007067287.1:n.1139_1141del, XR_007067287.1:n.1140_1141del, XR_007067287.1:n.1141del, XR_007067287.1:n.1141dup, XR_007067287.1:n.1140_1141dup, XR_007067287.1:n.1139_1141dup, XR_007067287.1:n.1138_1141dup, XR_007067287.1:n.1137_1141dup

Select item 149057916613.

rs1490579166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48810928 (GRCh38)
19:49314185 (GRCh37)
Canonical SPDI:: NC_000019.10:48810927:G:T
Gene:: BCAT2 (Varview), LOC105372432 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_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_000019.10:g.48810928G>T, NC_000019.9:g.49314185G>T, NG_013003.1:g.5136C>A, NG_075075.1:g.77G>T

Select item 149052271614.

rs1490522716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48812660 (GRCh38)
19:49315917 (GRCh37)
Canonical SPDI:: NC_000019.10:48812659:T:C
Gene:: BCAT2 (Varview), HSD17B14 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48812660T>C, NC_000019.9:g.49315917T>C, NG_013003.1:g.3404A>G, NG_070956.1:g.653T>C

Select item 149035649315.

rs1490356493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:48806984 (GRCh38)
19:49310241 (GRCh37)
Canonical SPDI:: NC_000019.10:48806983:A:T
Gene:: BCAT2 (Varview), LOC105372432 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.48806984A>T, NC_000019.9:g.49310241A>T, NG_013003.1:g.9080T>A

Select item 149019586116.

rs1490195861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48814535 (GRCh38)
19:49317792 (GRCh37)
Canonical SPDI:: NC_000019.10:48814534:A:G
Gene:: HSD17B14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48814535A>G, NC_000019.9:g.49317792A>G, NG_013003.1:g.1529T>C

Select item 149015349617.

rs1490153496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48798097 (GRCh38)
19:49301354 (GRCh37)
Canonical SPDI:: NC_000019.10:48798096:G:T
Gene:: BCAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.48798097G>T, NC_000019.9:g.49301354G>T, NG_013003.1:g.17967C>A

Select item 148999474318.

rs1489994743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:48806594 (GRCh38)
19:49309851 (GRCh37)
Canonical SPDI:: NC_000019.10:48806593:A:C
Gene:: BCAT2 (Varview), LOC105372432 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48806594A>C, NC_000019.9:g.49309851A>C, NG_013003.1:g.9470T>G, NM_001190.4:c.223T>G, NM_001190.3:c.223T>G, NM_001284325.2:c.103T>G, NM_001284325.1:c.103T>G, NR_028450.1:n.760T>G, NR_028451.1:n.312T>G, NP_001181.2:p.Trp75Gly, NP_001271254.1:p.Trp35Gly

Select item 148988276119.

rs1489882761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48813158 (GRCh38)
19:49316415 (GRCh37)
Canonical SPDI:: NC_000019.10:48813157:A:G
Gene:: HSD17B14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48813158A>G, NC_000019.9:g.49316415A>G, NG_013003.1:g.2906T>C, XM_005258969.5:c.*94T>C, XM_005258969.4:c.*94T>C, XM_005258969.3:c.*94T>C, XM_005258969.2:c.*94T>C, XM_005258969.1:c.*94T>C, NM_016246.3:c.*17T>C, NM_016246.2:c.*17T>C

Select item 148972564320.

rs1489725643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48811522 (GRCh38)
19:49314779 (GRCh37)
Canonical SPDI:: NC_000019.10:48811521:C:T
Gene:: BCAT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00034/1 (KOREAN)
HGVS:: NC_000019.10:g.48811522C>T, NC_000019.9:g.49314779C>T, NG_013003.1:g.4542G>A

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