SNP Links for Gene (Select 9429) - SNP

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Select item 14915832911.

rs1491583291 has merged into rs201460174 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 4:88115254 (GRCh38)
4:89036406 (GRCh37)
Canonical SPDI:: NC_000004.12:88115232:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000004.12:88115232:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:88115232:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:88115232:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:88115232:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:88115232:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:88115232:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:88115232:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:88115232:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
HGVS:: NC_000004.12:g.88115234CT[10], NC_000004.12:g.88115234CT[11], NC_000004.12:g.88115234CT[13], NC_000004.12:g.88115234CT[14], NC_000004.12:g.88115234CT[15], NC_000004.12:g.88115234CT[19], NC_000004.12:g.88115234CT[21], NC_000004.12:g.88115234CT[23], NC_000004.12:g.88115234CT[24], NC_000004.11:g.89036386CT[10], NC_000004.11:g.89036386CT[11], NC_000004.11:g.89036386CT[13], NC_000004.11:g.89036386CT[14], NC_000004.11:g.89036386CT[15], NC_000004.11:g.89036386CT[19], NC_000004.11:g.89036386CT[21], NC_000004.11:g.89036386CT[23], NC_000004.11:g.89036386CT[24], NG_032067.2:g.121067GA[10], NG_032067.2:g.121067GA[11], NG_032067.2:g.121067GA[13], NG_032067.2:g.121067GA[14], NG_032067.2:g.121067GA[15], NG_032067.2:g.121067GA[19], NG_032067.2:g.121067GA[21], NG_032067.2:g.121067GA[23], NG_032067.2:g.121067GA[24]

Select item 14915603172.

rs1491560317 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:88172595 (GRCh38)
4:89093747 (GRCh37)
Canonical SPDI:: NC_000004.12:88172594:TT:
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000164/19 (GnomAD)
HGVS:: NC_000004.12:g.88172595_88172596del, NC_000004.11:g.89093747_89093748del, NG_032067.2:g.63727_63728del

Select item 14915455783.

rs1491545578 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:88093503 (GRCh38)
4:89014655 (GRCh37)
Canonical SPDI:: NC_000004.12:88093502:CA:
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01062/126 (ALFA)
-=0.00064/24 (GnomAD)
-=0.0018/51 (TOMMO)
HGVS:: NC_000004.12:g.88093503_88093504del, NC_000004.11:g.89014655_89014656del, NG_032067.2:g.142819_142820del

Select item 14915358684.

rs1491535868 has merged into rs1211896196 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:88116547 (GRCh38)
4:89037699 (GRCh37)
Canonical SPDI:: NC_000004.12:88116533:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:88116533:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:88116533:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:88116533:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88116533:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88116533:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88116533:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88116533:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88116533:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.05075/325 (1000Genomes)
HGVS:: NC_000004.12:g.88116547_88116571del, NC_000004.12:g.88116548_88116571del, NC_000004.12:g.88116550_88116571del, NC_000004.12:g.88116560_88116571del, NC_000004.12:g.88116564_88116571del, NC_000004.12:g.88116570_88116571del, NC_000004.12:g.88116571del, NC_000004.12:g.88116571dup, NC_000004.12:g.88116565_88116571dup, NC_000004.11:g.89037699_89037723del, NC_000004.11:g.89037700_89037723del, NC_000004.11:g.89037702_89037723del, NC_000004.11:g.89037712_89037723del, NC_000004.11:g.89037716_89037723del, NC_000004.11:g.89037722_89037723del, NC_000004.11:g.89037723del, NC_000004.11:g.89037723dup, NC_000004.11:g.89037717_89037723dup, NG_032067.2:g.119765_119789del, NG_032067.2:g.119766_119789del, NG_032067.2:g.119768_119789del, NG_032067.2:g.119778_119789del, NG_032067.2:g.119782_119789del, NG_032067.2:g.119788_119789del, NG_032067.2:g.119789del, NG_032067.2:g.119789dup, NG_032067.2:g.119783_119789dup

Select item 14915351185.

rs1491535118 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 4:88208994 (GRCh38)
4:89130147 (GRCh37)
Canonical SPDI:: NC_000004.12:88208994::CC
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: CC=0.00025/4 (TOMMO)
CC=0.00202/9 (Estonian)
HGVS:: NC_000004.12:g.88208994_88208995insCC, NC_000004.11:g.89130146_89130147insCC, NG_032067.2:g.27328_27329insGG

Select item 14915348676.

rs1491534867 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:88143808 (GRCh38)
4:89064960 (GRCh37)
Canonical SPDI:: NC_000004.12:88143806:ACA:A
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000061/8 (GnomAD)
-=0.000625/4 (1000Genomes)
HGVS:: NC_000004.12:g.88143808_88143809del, NC_000004.11:g.89064960_89064961del, NG_032067.2:g.92515_92516del

Select item 14915320557.

rs1491532055 [Homo sapiens]

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

Select item 14915265468.

rs1491526546 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:88203754 (GRCh38)
4:89124906 (GRCh37)
Canonical SPDI:: NC_000004.12:88203753:CA:
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0102/121 (ALFA)
-=0.00096/27 (TOMMO)
HGVS:: NC_000004.12:g.88203754_88203755del, NC_000004.11:g.89124906_89124907del, NG_032067.2:g.32568_32569del

Select item 14915120719.

rs1491512071 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:88090136 (GRCh38)
4:89011288 (GRCh37)
Canonical SPDI:: NC_000004.12:88090135:CA:
Gene:: ABCG2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.88090136_88090137del, NC_000004.11:g.89011288_89011289del, NG_032067.2:g.146186_146187del

Select item 149145971410.

rs1491459714 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 4:88211364 (GRCh38)
4:89132517 (GRCh37)
Canonical SPDI:: NC_000004.12:88211364::A,NC_000004.12:88211364::G
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88211364_88211365insA, NC_000004.12:g.88211364_88211365insG, NC_000004.11:g.89132516_89132517insA, NC_000004.11:g.89132516_89132517insG, NG_032067.2:g.24958_24959insT, NG_032067.2:g.24958_24959insC

Select item 149145320711.

rs1491453207 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATCTAAAA [Show Flanks]
Chromosome:: 4:88116534 (GRCh38)
4:89037687 (GRCh37)
Canonical SPDI:: NC_000004.12:88116534::ATCTAAAA
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: ATCTAAAA=0.002/1 (GnomAD)
ATCTAAAA=0.003/2 (TOMMO)
ATCTAAAA=0.024/2 (Korea1K)
HGVS:: NC_000004.12:g.88116534_88116535insATCTAAAA, NC_000004.11:g.89037686_89037687insATCTAAAA, NG_032067.2:g.119788_119789insTTTTAGAT

Select item 149143684012.

rs1491436840 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:88223872 (GRCh38)
4:89145024 (GRCh37)
Canonical SPDI:: NC_000004.12:88223871:AT:
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.88223872_88223873del, NC_000004.11:g.89145024_89145025del, NG_032067.2:g.12450_12451del

Select item 149141871813.

rs1491418718 has merged into rs551648302 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:88167380 (GRCh38)
4:89088532 (GRCh37)
Canonical SPDI:: NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:88167370:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ABCG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTT=0.05/2 (GENOME_DK)
-=0.0631/243 (ALSPAC)
-=0.079/293 (TWINSUK)
-=0.094/471 (1000Genomes)
HGVS:: NC_000004.12:g.88167380_88167391del, NC_000004.12:g.88167381_88167391del, NC_000004.12:g.88167382_88167391del, NC_000004.12:g.88167386_88167391del, NC_000004.12:g.88167387_88167391del, NC_000004.12:g.88167388_88167391del, NC_000004.12:g.88167389_88167391del, NC_000004.12:g.88167390_88167391del, NC_000004.12:g.88167391del, NC_000004.12:g.88167391dup, NC_000004.12:g.88167390_88167391dup, NC_000004.12:g.88167389_88167391dup, NC_000004.12:g.88167388_88167391dup, NC_000004.12:g.88167387_88167391dup, NC_000004.12:g.88167386_88167391dup, NC_000004.12:g.88167385_88167391dup, NC_000004.12:g.88167384_88167391dup, NC_000004.12:g.88167382_88167391dup, NC_000004.11:g.89088532_89088543del, NC_000004.11:g.89088533_89088543del, NC_000004.11:g.89088534_89088543del, NC_000004.11:g.89088538_89088543del, NC_000004.11:g.89088539_89088543del, NC_000004.11:g.89088540_89088543del, NC_000004.11:g.89088541_89088543del, NC_000004.11:g.89088542_89088543del, NC_000004.11:g.89088543del, NC_000004.11:g.89088543dup, NC_000004.11:g.89088542_89088543dup, NC_000004.11:g.89088541_89088543dup, NC_000004.11:g.89088540_89088543dup, NC_000004.11:g.89088539_89088543dup, NC_000004.11:g.89088538_89088543dup, NC_000004.11:g.89088537_89088543dup, NC_000004.11:g.89088536_89088543dup, NC_000004.11:g.89088534_89088543dup, NG_032067.2:g.68941_68952del, NG_032067.2:g.68942_68952del, NG_032067.2:g.68943_68952del, NG_032067.2:g.68947_68952del, NG_032067.2:g.68948_68952del, NG_032067.2:g.68949_68952del, NG_032067.2:g.68950_68952del, NG_032067.2:g.68951_68952del, NG_032067.2:g.68952del, NG_032067.2:g.68952dup, NG_032067.2:g.68951_68952dup, NG_032067.2:g.68950_68952dup, NG_032067.2:g.68949_68952dup, NG_032067.2:g.68948_68952dup, NG_032067.2:g.68947_68952dup, NG_032067.2:g.68946_68952dup, NG_032067.2:g.68945_68952dup, NG_032067.2:g.68943_68952dup

Select item 149141017814.

rs1491410178 has merged into rs34988728 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 4:88203764 (GRCh38)
4:89124916 (GRCh37)
Canonical SPDI:: NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.2282/1143 (1000Genomes)
HGVS:: NC_000004.12:g.88203764_88203771del, NC_000004.12:g.88203766_88203771del, NC_000004.12:g.88203767_88203771del, NC_000004.12:g.88203768_88203771del, NC_000004.12:g.88203769_88203771del, NC_000004.12:g.88203770_88203771del, NC_000004.12:g.88203771del, NC_000004.12:g.88203771dup, NC_000004.11:g.89124916_89124923del, NC_000004.11:g.89124918_89124923del, NC_000004.11:g.89124919_89124923del, NC_000004.11:g.89124920_89124923del, NC_000004.11:g.89124921_89124923del, NC_000004.11:g.89124922_89124923del, NC_000004.11:g.89124923del, NC_000004.11:g.89124923dup, NG_032067.2:g.32561_32568del, NG_032067.2:g.32563_32568del, NG_032067.2:g.32564_32568del, NG_032067.2:g.32565_32568del, NG_032067.2:g.32566_32568del, NG_032067.2:g.32567_32568del, NG_032067.2:g.32568del, NG_032067.2:g.32568dup

Select item 149139779815.

rs1491397798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGT [Show Flanks]
Chromosome:: 4:88225219 (GRCh38)
4:89146372 (GRCh37)
Canonical SPDI:: NC_000004.12:88225219:GT:GTAGT
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTAGT=0./0 (ALFA)
GTA=0.000014/2 (GnomAD)
GTA=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.88225221_88225222insAGT, NC_000004.11:g.89146373_89146374insAGT, NG_032067.2:g.11103_11104insTAC

Select item 149138627716.

rs1491386277 has merged into rs10533191 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:88093513 (GRCh38)
4:89014665 (GRCh37)
Canonical SPDI:: NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88093503:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.88093513_88093524del, NC_000004.12:g.88093514_88093524del, NC_000004.12:g.88093515_88093524del, NC_000004.12:g.88093516_88093524del, NC_000004.12:g.88093517_88093524del, NC_000004.12:g.88093518_88093524del, NC_000004.12:g.88093519_88093524del, NC_000004.12:g.88093520_88093524del, NC_000004.12:g.88093521_88093524del, NC_000004.12:g.88093522_88093524del, NC_000004.12:g.88093523_88093524del, NC_000004.12:g.88093524del, NC_000004.12:g.88093524dup, NC_000004.12:g.88093522_88093524dup, NC_000004.12:g.88093521_88093524dup, NC_000004.11:g.89014665_89014676del, NC_000004.11:g.89014666_89014676del, NC_000004.11:g.89014667_89014676del, NC_000004.11:g.89014668_89014676del, NC_000004.11:g.89014669_89014676del, NC_000004.11:g.89014670_89014676del, NC_000004.11:g.89014671_89014676del, NC_000004.11:g.89014672_89014676del, NC_000004.11:g.89014673_89014676del, NC_000004.11:g.89014674_89014676del, NC_000004.11:g.89014675_89014676del, NC_000004.11:g.89014676del, NC_000004.11:g.89014676dup, NC_000004.11:g.89014674_89014676dup, NC_000004.11:g.89014673_89014676dup, NG_032067.2:g.142808_142819del, NG_032067.2:g.142809_142819del, NG_032067.2:g.142810_142819del, NG_032067.2:g.142811_142819del, NG_032067.2:g.142812_142819del, NG_032067.2:g.142813_142819del, NG_032067.2:g.142814_142819del, NG_032067.2:g.142815_142819del, NG_032067.2:g.142816_142819del, NG_032067.2:g.142817_142819del, NG_032067.2:g.142818_142819del, NG_032067.2:g.142819del, NG_032067.2:g.142819dup, NG_032067.2:g.142817_142819dup, NG_032067.2:g.142816_142819dup

Select item 149137931017.

rs1491379310 has merged into rs1460998290 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 4:88110831 (GRCh38)
4:89031983 (GRCh37)
Canonical SPDI:: NC_000004.12:88110824:ATATATAT:ATATAT,NC_000004.12:88110824:ATATATAT:ATATATATAT
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0.00006/1 (ALFA)
-=0.00035/6 (TOMMO)
HGVS:: NC_000004.12:g.88110825AT[3], NC_000004.12:g.88110825AT[5], NC_000004.11:g.89031977AT[3], NC_000004.11:g.89031977AT[5], NG_032067.2:g.125491AT[3], NG_032067.2:g.125491AT[5]

Select item 149129530118.

rs1491295301 has merged into rs58830217 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:88090145 (GRCh38)
4:89011297 (GRCh37)
Canonical SPDI:: NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88090136:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ABCG2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.263158/10 (GENOME_DK)
HGVS:: NC_000004.12:g.88090145_88090157del, NC_000004.12:g.88090147_88090157del, NC_000004.12:g.88090151_88090157del, NC_000004.12:g.88090152_88090157del, NC_000004.12:g.88090153_88090157del, NC_000004.12:g.88090155_88090157del, NC_000004.12:g.88090156_88090157del, NC_000004.12:g.88090157del, NC_000004.12:g.88090157dup, NC_000004.12:g.88090156_88090157dup, NC_000004.12:g.88090155_88090157dup, NC_000004.12:g.88090154_88090157dup, NC_000004.12:g.88090153_88090157dup, NC_000004.12:g.88090145_88090157dup, NC_000004.11:g.89011297_89011309del, NC_000004.11:g.89011299_89011309del, NC_000004.11:g.89011303_89011309del, NC_000004.11:g.89011304_89011309del, NC_000004.11:g.89011305_89011309del, NC_000004.11:g.89011307_89011309del, NC_000004.11:g.89011308_89011309del, NC_000004.11:g.89011309del, NC_000004.11:g.89011309dup, NC_000004.11:g.89011308_89011309dup, NC_000004.11:g.89011307_89011309dup, NC_000004.11:g.89011306_89011309dup, NC_000004.11:g.89011305_89011309dup, NC_000004.11:g.89011297_89011309dup, NG_032067.2:g.146174_146186del, NG_032067.2:g.146176_146186del, NG_032067.2:g.146180_146186del, NG_032067.2:g.146181_146186del, NG_032067.2:g.146182_146186del, NG_032067.2:g.146184_146186del, NG_032067.2:g.146185_146186del, NG_032067.2:g.146186del, NG_032067.2:g.146186dup, NG_032067.2:g.146185_146186dup, NG_032067.2:g.146184_146186dup, NG_032067.2:g.146183_146186dup, NG_032067.2:g.146182_146186dup, NG_032067.2:g.146174_146186dup

Select item 149126115019.

rs1491261150 has merged into rs61116461 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:88187105 (GRCh38)
4:89108257 (GRCh37)
Canonical SPDI:: NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88187093:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAAAA=0.0034/2 (NorthernSweden)
HGVS:: NC_000004.12:g.88187105_88187122del, NC_000004.12:g.88187106_88187122del, NC_000004.12:g.88187107_88187122del, NC_000004.12:g.88187108_88187122del, NC_000004.12:g.88187109_88187122del, NC_000004.12:g.88187110_88187122del, NC_000004.12:g.88187111_88187122del, NC_000004.12:g.88187112_88187122del, NC_000004.12:g.88187113_88187122del, NC_000004.12:g.88187114_88187122del, NC_000004.12:g.88187115_88187122del, NC_000004.12:g.88187116_88187122del, NC_000004.12:g.88187117_88187122del, NC_000004.12:g.88187118_88187122del, NC_000004.12:g.88187119_88187122del, NC_000004.12:g.88187120_88187122del, NC_000004.12:g.88187121_88187122del, NC_000004.12:g.88187122del, NC_000004.12:g.88187122dup, NC_000004.12:g.88187121_88187122dup, NC_000004.12:g.88187120_88187122dup, NC_000004.12:g.88187118_88187122dup, NC_000004.12:g.88187117_88187122dup, NC_000004.12:g.88187115_88187122dup, NC_000004.12:g.88187113_88187122dup, NC_000004.12:g.88187094_88187122A[31]GA[2]A[36], NC_000004.11:g.89108257_89108274del, NC_000004.11:g.89108258_89108274del, NC_000004.11:g.89108259_89108274del, NC_000004.11:g.89108260_89108274del, NC_000004.11:g.89108261_89108274del, NC_000004.11:g.89108262_89108274del, NC_000004.11:g.89108263_89108274del, NC_000004.11:g.89108264_89108274del, NC_000004.11:g.89108265_89108274del, NC_000004.11:g.89108266_89108274del, NC_000004.11:g.89108267_89108274del, NC_000004.11:g.89108268_89108274del, NC_000004.11:g.89108269_89108274del, NC_000004.11:g.89108270_89108274del, NC_000004.11:g.89108271_89108274del, NC_000004.11:g.89108272_89108274del, NC_000004.11:g.89108273_89108274del, NC_000004.11:g.89108274del, NC_000004.11:g.89108274dup, NC_000004.11:g.89108273_89108274dup, NC_000004.11:g.89108272_89108274dup, NC_000004.11:g.89108270_89108274dup, NC_000004.11:g.89108269_89108274dup, NC_000004.11:g.89108267_89108274dup, NC_000004.11:g.89108265_89108274dup, NC_000004.11:g.89108246_89108274A[31]GA[2]A[36], NG_032067.2:g.49212_49229del, NG_032067.2:g.49213_49229del, NG_032067.2:g.49214_49229del, NG_032067.2:g.49215_49229del, NG_032067.2:g.49216_49229del, NG_032067.2:g.49217_49229del, NG_032067.2:g.49218_49229del, NG_032067.2:g.49219_49229del, NG_032067.2:g.49220_49229del, NG_032067.2:g.49221_49229del, NG_032067.2:g.49222_49229del, NG_032067.2:g.49223_49229del, NG_032067.2:g.49224_49229del, NG_032067.2:g.49225_49229del, NG_032067.2:g.49226_49229del, NG_032067.2:g.49227_49229del, NG_032067.2:g.49228_49229del, NG_032067.2:g.49229del, NG_032067.2:g.49229dup, NG_032067.2:g.49228_49229dup, NG_032067.2:g.49227_49229dup, NG_032067.2:g.49225_49229dup, NG_032067.2:g.49224_49229dup, NG_032067.2:g.49222_49229dup, NG_032067.2:g.49220_49229dup, NG_032067.2:g.49201_49229T[37]CT[2]T[30]

Select item 149124748220.

rs1491247482 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:88195346 (GRCh38)
4:89116498 (GRCh37)
Canonical SPDI:: NC_000004.12:88195343:ATAT:AT
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88195344AT[1], NC_000004.11:g.89116496AT[1], NG_032067.2:g.40976AT[1]

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