SNP Links for Gene (Select 9497) - SNP

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Select item 14915499361.

rs1491549936 has merged into rs10564000 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:27465485 (GRCh38)
3:27506976 (GRCh37)
Canonical SPDI:: NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27465474:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.272/1362 (1000Genomes)
HGVS:: NC_000003.12:g.27465485_27465494del, NC_000003.12:g.27465488_27465494del, NC_000003.12:g.27465489_27465494del, NC_000003.12:g.27465490_27465494del, NC_000003.12:g.27465491_27465494del, NC_000003.12:g.27465492_27465494del, NC_000003.12:g.27465493_27465494del, NC_000003.12:g.27465494del, NC_000003.12:g.27465494dup, NC_000003.12:g.27465493_27465494dup, NC_000003.12:g.27465492_27465494dup, NC_000003.12:g.27465491_27465494dup, NC_000003.12:g.27465487_27465494dup, NC_000003.12:g.27465484_27465494dup, NC_000003.11:g.27506976_27506985del, NC_000003.11:g.27506979_27506985del, NC_000003.11:g.27506980_27506985del, NC_000003.11:g.27506981_27506985del, NC_000003.11:g.27506982_27506985del, NC_000003.11:g.27506983_27506985del, NC_000003.11:g.27506984_27506985del, NC_000003.11:g.27506985del, NC_000003.11:g.27506985dup, NC_000003.11:g.27506984_27506985dup, NC_000003.11:g.27506983_27506985dup, NC_000003.11:g.27506982_27506985dup, NC_000003.11:g.27506978_27506985dup, NC_000003.11:g.27506975_27506985dup, NG_032673.1:g.23937_23946del, NG_032673.1:g.23940_23946del, NG_032673.1:g.23941_23946del, NG_032673.1:g.23942_23946del, NG_032673.1:g.23943_23946del, NG_032673.1:g.23944_23946del, NG_032673.1:g.23945_23946del, NG_032673.1:g.23946del, NG_032673.1:g.23946dup, NG_032673.1:g.23945_23946dup, NG_032673.1:g.23944_23946dup, NG_032673.1:g.23943_23946dup, NG_032673.1:g.23939_23946dup, NG_032673.1:g.23936_23946dup

Select item 14915167362.

rs1491516736 has merged into rs869147513 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:27465965 (GRCh38)
3:27507456 (GRCh37)
Canonical SPDI:: NC_000003.12:27465953:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:27465953:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:27465953:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:27465953:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:27465953:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:27465953:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:27465953:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:27465953:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27465953:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC4A7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAA=0.03497/20 (NorthernSweden)
HGVS:: NC_000003.12:g.27465965_27465966del, NC_000003.12:g.27465966del, NC_000003.12:g.27465966dup, NC_000003.12:g.27465965_27465966dup, NC_000003.12:g.27465964_27465966dup, NC_000003.12:g.27465963_27465966dup, NC_000003.12:g.27465961_27465966dup, NC_000003.12:g.27465959_27465966dup, NC_000003.12:g.27465957_27465966dup, NC_000003.11:g.27507456_27507457del, NC_000003.11:g.27507457del, NC_000003.11:g.27507457dup, NC_000003.11:g.27507456_27507457dup, NC_000003.11:g.27507455_27507457dup, NC_000003.11:g.27507454_27507457dup, NC_000003.11:g.27507452_27507457dup, NC_000003.11:g.27507450_27507457dup, NC_000003.11:g.27507448_27507457dup, NG_032673.1:g.23466_23467del, NG_032673.1:g.23467del, NG_032673.1:g.23467dup, NG_032673.1:g.23466_23467dup, NG_032673.1:g.23465_23467dup, NG_032673.1:g.23464_23467dup, NG_032673.1:g.23462_23467dup, NG_032673.1:g.23460_23467dup, NG_032673.1:g.23458_23467dup

Select item 14914827423.

rs1491482742 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:27473705 (GRCh38)
3:27515196 (GRCh37)
Canonical SPDI:: NC_000003.12:27473704:CA:
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000003.12:g.27473705_27473706del, NC_000003.11:g.27515196_27515197del, NG_032673.1:g.15715_15716del

Select item 14913890314.

rs1491389031 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:27425370 (GRCh38)
3:27466861 (GRCh37)
Canonical SPDI:: NC_000003.12:27425369:TA:
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00004/1 (GnomAD)
HGVS:: NC_000003.12:g.27425370_27425371del, NC_000003.11:g.27466861_27466862del, NG_032673.1:g.64050_64051del

Select item 14913786305.

rs1491378630 has merged into rs56153970 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:27425383 (GRCh38)
3:27466874 (GRCh37)
Canonical SPDI:: NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27425370:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.27425383_27425393del, NC_000003.12:g.27425386_27425393del, NC_000003.12:g.27425387_27425393del, NC_000003.12:g.27425388_27425393del, NC_000003.12:g.27425389_27425393del, NC_000003.12:g.27425390_27425393del, NC_000003.12:g.27425391_27425393del, NC_000003.12:g.27425392_27425393del, NC_000003.12:g.27425393del, NC_000003.12:g.27425393dup, NC_000003.12:g.27425392_27425393dup, NC_000003.12:g.27425391_27425393dup, NC_000003.12:g.27425390_27425393dup, NC_000003.12:g.27425389_27425393dup, NC_000003.12:g.27425388_27425393dup, NC_000003.12:g.27425375_27425393dup, NC_000003.11:g.27466874_27466884del, NC_000003.11:g.27466877_27466884del, NC_000003.11:g.27466878_27466884del, NC_000003.11:g.27466879_27466884del, NC_000003.11:g.27466880_27466884del, NC_000003.11:g.27466881_27466884del, NC_000003.11:g.27466882_27466884del, NC_000003.11:g.27466883_27466884del, NC_000003.11:g.27466884del, NC_000003.11:g.27466884dup, NC_000003.11:g.27466883_27466884dup, NC_000003.11:g.27466882_27466884dup, NC_000003.11:g.27466881_27466884dup, NC_000003.11:g.27466880_27466884dup, NC_000003.11:g.27466879_27466884dup, NC_000003.11:g.27466866_27466884dup, NG_032673.1:g.64040_64050del, NG_032673.1:g.64043_64050del, NG_032673.1:g.64044_64050del, NG_032673.1:g.64045_64050del, NG_032673.1:g.64046_64050del, NG_032673.1:g.64047_64050del, NG_032673.1:g.64048_64050del, NG_032673.1:g.64049_64050del, NG_032673.1:g.64050del, NG_032673.1:g.64050dup, NG_032673.1:g.64049_64050dup, NG_032673.1:g.64048_64050dup, NG_032673.1:g.64047_64050dup, NG_032673.1:g.64046_64050dup, NG_032673.1:g.64045_64050dup, NG_032673.1:g.64032_64050dup

Select item 14913603076.

rs1491360307 has merged into rs60223718 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:27380322 (GRCh38)
3:27421813 (GRCh37)
Canonical SPDI:: NC_000003.12:27380314:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000003.12:27380314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:27380314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:27380314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:27380314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:27380314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:27380314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:27380314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.0821/411 (1000Genomes)
HGVS:: NC_000003.12:g.27380322_27380333del, NC_000003.12:g.27380326_27380333del, NC_000003.12:g.27380329_27380333del, NC_000003.12:g.27380330_27380333del, NC_000003.12:g.27380331_27380333del, NC_000003.12:g.27380332_27380333del, NC_000003.12:g.27380333del, NC_000003.12:g.27380333dup, NC_000003.11:g.27421813_27421824del, NC_000003.11:g.27421817_27421824del, NC_000003.11:g.27421820_27421824del, NC_000003.11:g.27421821_27421824del, NC_000003.11:g.27421822_27421824del, NC_000003.11:g.27421823_27421824del, NC_000003.11:g.27421824del, NC_000003.11:g.27421824dup, NG_032673.1:g.109095_109106del, NG_032673.1:g.109099_109106del, NG_032673.1:g.109102_109106del, NG_032673.1:g.109103_109106del, NG_032673.1:g.109104_109106del, NG_032673.1:g.109105_109106del, NG_032673.1:g.109106del, NG_032673.1:g.109106dup

Select item 14913428787.

rs1491342878 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:27446143 (GRCh38)
3:27487634 (GRCh37)
Canonical SPDI:: NC_000003.12:27446139:AAAAA:AAA
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000094/13 (GnomAD)
HGVS:: NC_000003.12:g.27446143_27446144del, NC_000003.11:g.27487634_27487635del, NG_032673.1:g.43280_43281del

Select item 14912988898.

rs1491298889 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:27380314 (GRCh38)
3:27421805 (GRCh37)
Canonical SPDI:: NC_000003.12:27380313:TA:
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00059/7 (ALFA)
-=0.00062/4 (1000Genomes)
-=0.00299/81 (GnomAD)
HGVS:: NC_000003.12:g.27380314_27380315del, NC_000003.11:g.27421805_27421806del, NG_032673.1:g.109106_109107del

Select item 14912775699.

rs1491277569 has merged into rs11319544 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 3:27407490 (GRCh38)
3:27448981 (GRCh37)
Canonical SPDI:: NC_000003.12:27407478:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:27407478:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:27407478:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:27407478:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:27407478:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:27407478:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.28734/1439 (1000Genomes)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000003.12:g.27407490_27407495del, NC_000003.12:g.27407493_27407495del, NC_000003.12:g.27407494_27407495del, NC_000003.12:g.27407495del, NC_000003.12:g.27407495dup, NC_000003.12:g.27407494_27407495dup, NC_000003.11:g.27448981_27448986del, NC_000003.11:g.27448984_27448986del, NC_000003.11:g.27448985_27448986del, NC_000003.11:g.27448986del, NC_000003.11:g.27448986dup, NC_000003.11:g.27448985_27448986dup, NG_032673.1:g.81937_81942del, NG_032673.1:g.81940_81942del, NG_032673.1:g.81941_81942del, NG_032673.1:g.81942del, NG_032673.1:g.81942dup, NG_032673.1:g.81941_81942dup

Select item 149124462010.

rs1491244620 has merged into rs747183440 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:27473716 (GRCh38)
3:27515207 (GRCh37)
Canonical SPDI:: NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:27473705:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000003.12:g.27473716_27473728del, NC_000003.12:g.27473717_27473728del, NC_000003.12:g.27473718_27473728del, NC_000003.12:g.27473719_27473728del, NC_000003.12:g.27473721_27473728del, NC_000003.12:g.27473722_27473728del, NC_000003.12:g.27473723_27473728del, NC_000003.12:g.27473724_27473728del, NC_000003.12:g.27473725_27473728del, NC_000003.12:g.27473726_27473728del, NC_000003.12:g.27473727_27473728del, NC_000003.12:g.27473728del, NC_000003.12:g.27473728dup, NC_000003.12:g.27473727_27473728dup, NC_000003.12:g.27473726_27473728dup, NC_000003.12:g.27473725_27473728dup, NC_000003.12:g.27473724_27473728dup, NC_000003.12:g.27473723_27473728dup, NC_000003.12:g.27473722_27473728dup, NC_000003.12:g.27473721_27473728dup, NC_000003.12:g.27473720_27473728dup, NC_000003.12:g.27473715_27473728dup, NC_000003.12:g.27473706_27473728A[33]TAAAA[2]A[20], NC_000003.11:g.27515207_27515219del, NC_000003.11:g.27515208_27515219del, NC_000003.11:g.27515209_27515219del, NC_000003.11:g.27515210_27515219del, NC_000003.11:g.27515212_27515219del, NC_000003.11:g.27515213_27515219del, NC_000003.11:g.27515214_27515219del, NC_000003.11:g.27515215_27515219del, NC_000003.11:g.27515216_27515219del, NC_000003.11:g.27515217_27515219del, NC_000003.11:g.27515218_27515219del, NC_000003.11:g.27515219del, NC_000003.11:g.27515219dup, NC_000003.11:g.27515218_27515219dup, NC_000003.11:g.27515217_27515219dup, NC_000003.11:g.27515216_27515219dup, NC_000003.11:g.27515215_27515219dup, NC_000003.11:g.27515214_27515219dup, NC_000003.11:g.27515213_27515219dup, NC_000003.11:g.27515212_27515219dup, NC_000003.11:g.27515211_27515219dup, NC_000003.11:g.27515206_27515219dup, NC_000003.11:g.27515197_27515219A[33]TAAAA[2]A[20], NG_032673.1:g.15703_15715del, NG_032673.1:g.15704_15715del, NG_032673.1:g.15705_15715del, NG_032673.1:g.15706_15715del, NG_032673.1:g.15708_15715del, NG_032673.1:g.15709_15715del, NG_032673.1:g.15710_15715del, NG_032673.1:g.15711_15715del, NG_032673.1:g.15712_15715del, NG_032673.1:g.15713_15715del, NG_032673.1:g.15714_15715del, NG_032673.1:g.15715del, NG_032673.1:g.15715dup, NG_032673.1:g.15714_15715dup, NG_032673.1:g.15713_15715dup, NG_032673.1:g.15712_15715dup, NG_032673.1:g.15711_15715dup, NG_032673.1:g.15710_15715dup, NG_032673.1:g.15709_15715dup, NG_032673.1:g.15708_15715dup, NG_032673.1:g.15707_15715dup, NG_032673.1:g.15702_15715dup, NG_032673.1:g.15693_15715T[24]ATTTT[2]T[29]

Select item 149123882611.

rs1491238826 has merged into rs1343210509 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 3:27446900 (GRCh38)
3:27488391 (GRCh37)
Canonical SPDI:: NC_000003.12:27446894:TTTTTTTT:TTTTT,NC_000003.12:27446894:TTTTTTTT:TTTTTT,NC_000003.12:27446894:TTTTTTTT:TTTTTTT,NC_000003.12:27446894:TTTTTTTT:TTTTTTTTT,NC_000003.12:27446894:TTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.27446900_27446902del, NC_000003.12:g.27446901_27446902del, NC_000003.12:g.27446902del, NC_000003.12:g.27446902dup, NC_000003.12:g.27446895_27446902dup, NC_000003.11:g.27488391_27488393del, NC_000003.11:g.27488392_27488393del, NC_000003.11:g.27488393del, NC_000003.11:g.27488393dup, NC_000003.11:g.27488386_27488393dup, NG_032673.1:g.42524_42526del, NG_032673.1:g.42525_42526del, NG_032673.1:g.42526del, NG_032673.1:g.42526dup, NG_032673.1:g.42519_42526dup

Select item 149122641812.

rs1491226418 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:27407479 (GRCh38)
3:27448971 (GRCh37)
Canonical SPDI:: NC_000003.12:27407479::T
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000003.12:g.27407479_27407480insT, NC_000003.11:g.27448970_27448971insT, NG_032673.1:g.81941_81942insA

Select item 149122519213.

rs1491225192 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:27465953 (GRCh38)
3:27507444 (GRCh37)
Canonical SPDI:: NC_000003.12:27465952:CA:
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00169/20 (ALFA)
HGVS:: NC_000003.12:g.27465953_27465954del, NC_000003.11:g.27507444_27507445del, NG_032673.1:g.23467_23468del

Select item 149122140514.

rs1491221405 [Homo sapiens]

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

Select item 149118464315.

rs1491184643 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA [Show Flanks]
Chromosome:: 3:27459990 (GRCh38)
3:27501482 (GRCh37)
Canonical SPDI:: NC_000003.12:27459990:A:ATACA
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATACA=0.00025/3 (ALFA)
ATAC=0.00026/22 (GnomAD)
HGVS:: NC_000003.12:g.27459991_27459992insTACA, NC_000003.11:g.27501482_27501483insTACA, NG_032673.1:g.29430_29431insGTAT

Select item 149106331116.

rs1491063311 has merged into rs558381804 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:27478847 (GRCh38)
3:27520338 (GRCh37)
Canonical SPDI:: NC_000003.12:27478833:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:27478833:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:27478833:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:27478833:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:27478833:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:27478833:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:27478833:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:27478833:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC4A7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.000004/1 (TOPMED)
-=0.03095/155 (1000Genomes)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000003.12:g.27478847_27478850del, NC_000003.12:g.27478848_27478850del, NC_000003.12:g.27478849_27478850del, NC_000003.12:g.27478850del, NC_000003.12:g.27478850dup, NC_000003.12:g.27478849_27478850dup, NC_000003.12:g.27478848_27478850dup, NC_000003.12:g.27478842_27478850dup, NC_000003.11:g.27520338_27520341del, NC_000003.11:g.27520339_27520341del, NC_000003.11:g.27520340_27520341del, NC_000003.11:g.27520341del, NC_000003.11:g.27520341dup, NC_000003.11:g.27520340_27520341dup, NC_000003.11:g.27520339_27520341dup, NC_000003.11:g.27520333_27520341dup, NG_032673.1:g.10584_10587del, NG_032673.1:g.10585_10587del, NG_032673.1:g.10586_10587del, NG_032673.1:g.10587del, NG_032673.1:g.10587dup, NG_032673.1:g.10586_10587dup, NG_032673.1:g.10585_10587dup, NG_032673.1:g.10579_10587dup

Select item 149102217517.

rs1491022175 has merged into rs71087609 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:27447650 (GRCh38)
3:27489141 (GRCh37)
Canonical SPDI:: NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:27447640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC4A7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTTTTTT=0.025/1 (GENOME_DK)
-=0.2682/1343 (1000Genomes)
HGVS:: NC_000003.12:g.27447650_27447663del, NC_000003.12:g.27447651_27447663del, NC_000003.12:g.27447652_27447663del, NC_000003.12:g.27447653_27447663del, NC_000003.12:g.27447654_27447663del, NC_000003.12:g.27447655_27447663del, NC_000003.12:g.27447656_27447663del, NC_000003.12:g.27447657_27447663del, NC_000003.12:g.27447658_27447663del, NC_000003.12:g.27447659_27447663del, NC_000003.12:g.27447660_27447663del, NC_000003.12:g.27447661_27447663del, NC_000003.12:g.27447662_27447663del, NC_000003.12:g.27447663del, NC_000003.12:g.27447663dup, NC_000003.12:g.27447662_27447663dup, NC_000003.12:g.27447661_27447663dup, NC_000003.12:g.27447660_27447663dup, NC_000003.12:g.27447659_27447663dup, NC_000003.12:g.27447658_27447663dup, NC_000003.12:g.27447657_27447663dup, NC_000003.12:g.27447656_27447663dup, NC_000003.12:g.27447655_27447663dup, NC_000003.12:g.27447654_27447663dup, NC_000003.12:g.27447652_27447663dup, NC_000003.12:g.27447650_27447663dup, NC_000003.12:g.27447649_27447663dup, NC_000003.12:g.27447647_27447663dup, NC_000003.12:g.27447663_27447664insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.27447663_27447664insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.27447663_27447664insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.27489141_27489154del, NC_000003.11:g.27489142_27489154del, NC_000003.11:g.27489143_27489154del, NC_000003.11:g.27489144_27489154del, NC_000003.11:g.27489145_27489154del, NC_000003.11:g.27489146_27489154del, NC_000003.11:g.27489147_27489154del, NC_000003.11:g.27489148_27489154del, NC_000003.11:g.27489149_27489154del, NC_000003.11:g.27489150_27489154del, NC_000003.11:g.27489151_27489154del, NC_000003.11:g.27489152_27489154del, NC_000003.11:g.27489153_27489154del, NC_000003.11:g.27489154del, NC_000003.11:g.27489154dup, NC_000003.11:g.27489153_27489154dup, NC_000003.11:g.27489152_27489154dup, NC_000003.11:g.27489151_27489154dup, NC_000003.11:g.27489150_27489154dup, NC_000003.11:g.27489149_27489154dup, NC_000003.11:g.27489148_27489154dup, NC_000003.11:g.27489147_27489154dup, NC_000003.11:g.27489146_27489154dup, NC_000003.11:g.27489145_27489154dup, NC_000003.11:g.27489143_27489154dup, NC_000003.11:g.27489141_27489154dup, NC_000003.11:g.27489140_27489154dup, NC_000003.11:g.27489138_27489154dup, NC_000003.11:g.27489154_27489155insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.27489154_27489155insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.27489154_27489155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032673.1:g.41767_41780del, NG_032673.1:g.41768_41780del, NG_032673.1:g.41769_41780del, NG_032673.1:g.41770_41780del, NG_032673.1:g.41771_41780del, NG_032673.1:g.41772_41780del, NG_032673.1:g.41773_41780del, NG_032673.1:g.41774_41780del, NG_032673.1:g.41775_41780del, NG_032673.1:g.41776_41780del, NG_032673.1:g.41777_41780del, NG_032673.1:g.41778_41780del, NG_032673.1:g.41779_41780del, NG_032673.1:g.41780del, NG_032673.1:g.41780dup, NG_032673.1:g.41779_41780dup, NG_032673.1:g.41778_41780dup, NG_032673.1:g.41777_41780dup, NG_032673.1:g.41776_41780dup, NG_032673.1:g.41775_41780dup, NG_032673.1:g.41774_41780dup, NG_032673.1:g.41773_41780dup, NG_032673.1:g.41772_41780dup, NG_032673.1:g.41771_41780dup, NG_032673.1:g.41769_41780dup, NG_032673.1:g.41767_41780dup, NG_032673.1:g.41766_41780dup, NG_032673.1:g.41764_41780dup, NG_032673.1:g.41780_41781insAAAAAAAAAAAAAAAAAAAAAAAA, NG_032673.1:g.41780_41781insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032673.1:g.41780_41781insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149101775418.

rs1491017754 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:27465967 (GRCh38)
3:27507459 (GRCh37)
Canonical SPDI:: NC_000003.12:27465967:AAA:AAAA
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.27465970dup, NC_000003.11:g.27507461dup, NG_032673.1:g.23453dup

Select item 149101756819.

rs1491017568 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:27446885 (GRCh38)
3:27488376 (GRCh37)
Canonical SPDI:: NC_000003.12:27446883:TGT:T
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000107/12 (GnomAD)
HGVS:: NC_000003.12:g.27446885_27446886del, NC_000003.11:g.27488376_27488377del, NG_032673.1:g.42536_42537del

Select item 149096629120.

rs1490966291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:27470660 (GRCh38)
3:27512151 (GRCh37)
Canonical SPDI:: NC_000003.12:27470659:C:A
Gene:: SLC4A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.0027/5 (Korea1K)
HGVS:: NC_000003.12:g.27470660C>A, NC_000003.11:g.27512151C>A, NG_032673.1:g.18761G>T

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