SNP Links for Gene (Select 55094) - SNP

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Select item 14915835771.

rs1491583577 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAA [Show Flanks]
Chromosome:: 19:33120306 (GRCh38)
19:33611213 (GRCh37)
Canonical SPDI:: NC_000019.10:33120306::AAAA
Gene:: GPATCH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: AAAA=0.00011/2 (TOMMO)
AAAA=0.00057/1 (Korea1K)
AAAA=0.0114/73 (1000Genomes)
AAAA=0.02085/1167 (GnomAD)
HGVS:: NC_000019.10:g.33120306_33120307insAAAA, NC_000019.9:g.33611212_33611213insAAAA

Select item 14915566442.

rs1491556644 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAATAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:33079123 (GRCh38)
19:33570030 (GRCh37)
Canonical SPDI:: NC_000019.10:33079123:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAA
HGVS:: NC_000019.10:g.33079124_33079140A[21]TAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.33570030_33570046A[21]TAAAAAAAAAAAAAAAAA[1]

Select item 14915534983.

rs1491553498 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:33100586 (GRCh38)
19:33591492 (GRCh37)
Canonical SPDI:: NC_000019.10:33100585:CA:
Gene:: GPATCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00118/14 (ALFA)
-=0.0011/31 (TOMMO)
HGVS:: NC_000019.10:g.33100586_33100587del, NC_000019.9:g.33591492_33591493del

Select item 14915317554.

rs1491531755 has merged into rs77836812 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 19:33106169 (GRCh38)
19:33597075 (GRCh37)
Canonical SPDI:: NC_000019.10:33106168:TTTTTTTTTT:TTTTTTTTT,NC_000019.10:33106168:TTTTTTTTTT:TTTTTTTTTTT
Gene:: GPATCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00018/5 (TOMMO)
HGVS:: NC_000019.10:g.33106178del, NC_000019.10:g.33106178dup, NC_000019.9:g.33597084del, NC_000019.9:g.33597084dup

Select item 14915049475.

rs1491504947 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:33099765 (GRCh38)
19:33590671 (GRCh37)
Canonical SPDI:: NC_000019.10:33099764:AT:
Gene:: GPATCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.33099765_33099766del, NC_000019.9:g.33590671_33590672del

Select item 14914799286.

rs1491479928 has merged into rs571663727 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:33080294 (GRCh38)
19:33571200 (GRCh37)
Canonical SPDI:: NC_000019.10:33080284:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:33080284:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:33080284:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:33080284:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:33080284:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:33080284:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:33080284:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:33080284:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GPATCH1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.318/1179 (TWINSUK)
A=0.3378/1302 (ALSPAC)
-=0.391/1958 (1000Genomes)
HGVS:: NC_000019.10:g.33080294_33080300del, NC_000019.10:g.33080299_33080300del, NC_000019.10:g.33080300del, NC_000019.10:g.33080300dup, NC_000019.10:g.33080299_33080300dup, NC_000019.10:g.33080298_33080300dup, NC_000019.10:g.33080297_33080300dup, NC_000019.10:g.33080293_33080300dup, NC_000019.9:g.33571200_33571206del, NC_000019.9:g.33571205_33571206del, NC_000019.9:g.33571206del, NC_000019.9:g.33571206dup, NC_000019.9:g.33571205_33571206dup, NC_000019.9:g.33571204_33571206dup, NC_000019.9:g.33571203_33571206dup, NC_000019.9:g.33571199_33571206dup

Select item 14914259577.

rs1491425957 has merged into rs546074419 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:33114808 (GRCh38)
19:33605714 (GRCh37)
Canonical SPDI:: NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33114797:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GPATCH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.33114808_33114820del, NC_000019.10:g.33114809_33114820del, NC_000019.10:g.33114810_33114820del, NC_000019.10:g.33114811_33114820del, NC_000019.10:g.33114812_33114820del, NC_000019.10:g.33114813_33114820del, NC_000019.10:g.33114814_33114820del, NC_000019.10:g.33114815_33114820del, NC_000019.10:g.33114817_33114820del, NC_000019.10:g.33114818_33114820del, NC_000019.10:g.33114819_33114820del, NC_000019.10:g.33114820del, NC_000019.10:g.33114820dup, NC_000019.10:g.33114819_33114820dup, NC_000019.10:g.33114818_33114820dup, NC_000019.10:g.33114817_33114820dup, NC_000019.10:g.33114816_33114820dup, NC_000019.10:g.33114815_33114820dup, NC_000019.10:g.33114814_33114820dup, NC_000019.10:g.33114813_33114820dup, NC_000019.10:g.33114812_33114820dup, NC_000019.10:g.33114811_33114820dup, NC_000019.10:g.33114810_33114820dup, NC_000019.10:g.33114809_33114820dup, NC_000019.10:g.33114807_33114820dup, NC_000019.10:g.33114805_33114820dup, NC_000019.10:g.33114802_33114820dup, NC_000019.9:g.33605714_33605726del, NC_000019.9:g.33605715_33605726del, NC_000019.9:g.33605716_33605726del, NC_000019.9:g.33605717_33605726del, NC_000019.9:g.33605718_33605726del, NC_000019.9:g.33605719_33605726del, NC_000019.9:g.33605720_33605726del, NC_000019.9:g.33605721_33605726del, NC_000019.9:g.33605723_33605726del, NC_000019.9:g.33605724_33605726del, NC_000019.9:g.33605725_33605726del, NC_000019.9:g.33605726del, NC_000019.9:g.33605726dup, NC_000019.9:g.33605725_33605726dup, NC_000019.9:g.33605724_33605726dup, NC_000019.9:g.33605723_33605726dup, NC_000019.9:g.33605722_33605726dup, NC_000019.9:g.33605721_33605726dup, NC_000019.9:g.33605720_33605726dup, NC_000019.9:g.33605719_33605726dup, NC_000019.9:g.33605718_33605726dup, NC_000019.9:g.33605717_33605726dup, NC_000019.9:g.33605716_33605726dup, NC_000019.9:g.33605715_33605726dup, NC_000019.9:g.33605713_33605726dup, NC_000019.9:g.33605711_33605726dup, NC_000019.9:g.33605708_33605726dup

Select item 14914152838.

rs1491415283 has merged into rs940098775 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA [Show Flanks]
Chromosome:: 19:33120279 (GRCh38)
19:33611185 (GRCh37)
Canonical SPDI:: NC_000019.10:33120274:TATATATA:TATA,NC_000019.10:33120274:TATATATA:TATATA
Gene:: GPATCH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000019.10:g.33120275TA[2], NC_000019.10:g.33120275TA[3], NC_000019.9:g.33611181TA[2], NC_000019.9:g.33611181TA[3]

Select item 14913723969.

rs1491372396 has merged into rs549403160 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTATATATTTATAT>-,ATTTATAT,ATTTATATATTTATATATTTATAT [Show Flanks]
Chromosome:: 19:33120028 (GRCh38)
19:33610934 (GRCh37)
Canonical SPDI:: NC_000019.10:33120012:TTTATATATTTATATATTTATATATTTATAT:TTTATATATTTATAT,NC_000019.10:33120012:TTTATATATTTATATATTTATATATTTATAT:TTTATATATTTATATATTTATAT,NC_000019.10:33120012:TTTATATATTTATATATTTATATATTTATAT:TTTATATATTTATATATTTATATATTTATATATTTATAT
Gene:: GPATCH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATATATTTATATATTTATATATTTATATATTTATAT=0./0 (ALFA)
TTTATATA=0.00018/3 (TOMMO)
-=0.00058/1 (Korea1K)
-=0.02811/141 (1000Genomes)
HGVS:: NC_000019.10:g.33120020ATTTATAT[1], NC_000019.10:g.33120020ATTTATAT[2], NC_000019.10:g.33120020ATTTATAT[4], NC_000019.9:g.33610926ATTTATAT[1], NC_000019.9:g.33610926ATTTATAT[2], NC_000019.9:g.33610926ATTTATAT[4]

Select item 149136397810.

rs1491363978 has merged into rs35230371 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:33099779 (GRCh38)
19:33590685 (GRCh37)
Canonical SPDI:: NC_000019.10:33099765:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:33099765:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:33099765:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:33099765:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:33099765:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:33099765:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:33099765:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33099765:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33099765:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33099765:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GPATCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000019.10:g.33099779_33099786del, NC_000019.10:g.33099780_33099786del, NC_000019.10:g.33099781_33099786del, NC_000019.10:g.33099784_33099786del, NC_000019.10:g.33099785_33099786del, NC_000019.10:g.33099786del, NC_000019.10:g.33099786dup, NC_000019.10:g.33099785_33099786dup, NC_000019.10:g.33099784_33099786dup, NC_000019.10:g.33099783_33099786dup, NC_000019.9:g.33590685_33590692del, NC_000019.9:g.33590686_33590692del, NC_000019.9:g.33590687_33590692del, NC_000019.9:g.33590690_33590692del, NC_000019.9:g.33590691_33590692del, NC_000019.9:g.33590692del, NC_000019.9:g.33590692dup, NC_000019.9:g.33590691_33590692dup, NC_000019.9:g.33590690_33590692dup, NC_000019.9:g.33590689_33590692dup

Select item 149136391811.

rs1491363918 has merged into rs59989673 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:33079976 (GRCh38)
19:33570882 (GRCh37)
Canonical SPDI:: NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079965:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GPATCH1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.33079976_33079992del, NC_000019.10:g.33079977_33079992del, NC_000019.10:g.33079979_33079992del, NC_000019.10:g.33079980_33079992del, NC_000019.10:g.33079981_33079992del, NC_000019.10:g.33079982_33079992del, NC_000019.10:g.33079983_33079992del, NC_000019.10:g.33079984_33079992del, NC_000019.10:g.33079985_33079992del, NC_000019.10:g.33079986_33079992del, NC_000019.10:g.33079987_33079992del, NC_000019.10:g.33079988_33079992del, NC_000019.10:g.33079989_33079992del, NC_000019.10:g.33079990_33079992del, NC_000019.10:g.33079991_33079992del, NC_000019.10:g.33079992del, NC_000019.10:g.33079992dup, NC_000019.10:g.33079991_33079992dup, NC_000019.10:g.33079990_33079992dup, NC_000019.10:g.33079989_33079992dup, NC_000019.10:g.33079988_33079992dup, NC_000019.10:g.33079986_33079992dup, NC_000019.10:g.33079985_33079992dup, NC_000019.10:g.33079984_33079992dup, NC_000019.10:g.33079983_33079992dup, NC_000019.9:g.33570882_33570898del, NC_000019.9:g.33570883_33570898del, NC_000019.9:g.33570885_33570898del, NC_000019.9:g.33570886_33570898del, NC_000019.9:g.33570887_33570898del, NC_000019.9:g.33570888_33570898del, NC_000019.9:g.33570889_33570898del, NC_000019.9:g.33570890_33570898del, NC_000019.9:g.33570891_33570898del, NC_000019.9:g.33570892_33570898del, NC_000019.9:g.33570893_33570898del, NC_000019.9:g.33570894_33570898del, NC_000019.9:g.33570895_33570898del, NC_000019.9:g.33570896_33570898del, NC_000019.9:g.33570897_33570898del, NC_000019.9:g.33570898del, NC_000019.9:g.33570898dup, NC_000019.9:g.33570897_33570898dup, NC_000019.9:g.33570896_33570898dup, NC_000019.9:g.33570895_33570898dup, NC_000019.9:g.33570894_33570898dup, NC_000019.9:g.33570892_33570898dup, NC_000019.9:g.33570891_33570898dup, NC_000019.9:g.33570890_33570898dup, NC_000019.9:g.33570889_33570898dup

Select item 149127410512.

rs1491274105 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:33114798 (GRCh38)
19:33605705 (GRCh37)
Canonical SPDI:: NC_000019.10:33114798::C
Gene:: GPATCH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00057/15 (TOMMO)
HGVS:: NC_000019.10:g.33114798_33114799insC, NC_000019.9:g.33605704_33605705insC

Select item 149125436213.

rs1491254362 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 19:33120308 (GRCh38)
19:33611214 (GRCh37)
Canonical SPDI:: NC_000019.10:33120305:TTTT:TT
Gene:: GPATCH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00011/2 (TOMMO)
HGVS:: NC_000019.10:g.33120308_33120309del, NC_000019.9:g.33611214_33611215del

Select item 149120218914.

rs1491202189 has merged into rs1293656497 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 19:33120014 (GRCh38)
19:33610920 (GRCh37)
Canonical SPDI:: NC_000019.10:33120011:TTTT:TT,NC_000019.10:33120011:TTTT:TTT
Gene:: GPATCH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.33120014_33120015del, NC_000019.10:g.33120015del, NC_000019.9:g.33610920_33610921del, NC_000019.9:g.33610921del

Select item 149118564215.

rs1491185642 [Homo sapiens]

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

Select item 149110571416.

rs1491105714 has merged into rs60998161 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:33079135 (GRCh38)
19:33570041 (GRCh37)
Canonical SPDI:: NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33079122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.280152/1403 (1000Genomes)
-=0.325/13 (GENOME_DK)
-=0.375/3 (KOREAN)
HGVS:: NC_000019.10:g.33079135_33079140del, NC_000019.10:g.33079136_33079140del, NC_000019.10:g.33079139_33079140del, NC_000019.10:g.33079140del, NC_000019.10:g.33079140dup, NC_000019.10:g.33079139_33079140dup, NC_000019.10:g.33079138_33079140dup, NC_000019.10:g.33079136_33079140dup, NC_000019.10:g.33079135_33079140dup, NC_000019.10:g.33079130_33079140dup, NC_000019.10:g.33079124_33079140dup, NC_000019.10:g.33079123_33079140dup, NC_000019.10:g.33079140_33079141insAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.33079140_33079141insAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.33079140_33079141insAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.33079140_33079141insAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.33570041_33570046del, NC_000019.9:g.33570042_33570046del, NC_000019.9:g.33570045_33570046del, NC_000019.9:g.33570046del, NC_000019.9:g.33570046dup, NC_000019.9:g.33570045_33570046dup, NC_000019.9:g.33570044_33570046dup, NC_000019.9:g.33570042_33570046dup, NC_000019.9:g.33570041_33570046dup, NC_000019.9:g.33570036_33570046dup, NC_000019.9:g.33570030_33570046dup, NC_000019.9:g.33570029_33570046dup, NC_000019.9:g.33570046_33570047insAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.33570046_33570047insAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.33570046_33570047insAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.33570046_33570047insAAAAAAAAAAAAAAAAAAAAAA

Select item 149109188817.

rs1491091888 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:33088112 (GRCh38)
19:33579018 (GRCh37)
Canonical SPDI:: NC_000019.10:33088111:CT:
Gene:: GPATCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00059/7 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000091/3 (ExAC)
-=0.000093/12 (GnomAD_exomes)
-=0.001062/136 (GnomAD)
HGVS:: NC_000019.10:g.33088112_33088113del, NC_000019.9:g.33579018_33579019del

Select item 149103412218.

rs1491034122 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:33120271 (GRCh38)
19:33611177 (GRCh37)
Canonical SPDI:: NC_000019.10:33120269:ACA:A
Gene:: GPATCH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00025/3 (ALFA)
HGVS:: NC_000019.10:g.33120271_33120272del, NC_000019.9:g.33611177_33611178del

Select item 149100179819.

rs1491001798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:33124446 (GRCh38)
19:33615352 (GRCh37)
Canonical SPDI:: NC_000019.10:33124445:A:C
Gene:: GPATCH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.33124446A>C, NC_000019.9:g.33615352A>C

Select item 149086651120.

rs1490866511 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:33109997 (GRCh38)
19:33600904 (GRCh37)
Canonical SPDI:: NC_000019.10:33109997:A:AA
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.33109998dup, NC_000019.9:g.33600904dup, XM_006723255.5:c.1567dup, XM_006723255.4:c.1567dup, XM_006723255.3:c.1567dup, XM_006723255.2:c.1567dup, XM_006723255.1:c.1567dup, NM_018025.3:c.1567dup, NM_018025.2:c.1567dup, NR_135270.2:n.1580dup, NR_135270.1:n.1881dup, XP_006723318.1:p.Met523fs, NP_060495.2:p.Met523fs

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