SNP Links for Gene (Select 728378) - SNP

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Select item 14915151321.

rs1491515132 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 2:130080146 (GRCh38)
2:130837720 (GRCh37)
Canonical SPDI:: NC_000002.12:130080146:G:GCG
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
HGVS:: NC_000002.12:g.130080147_130080148insCG, NC_000002.11:g.130837720_130837721insCG

Select item 14914663752.

rs1491466375 has merged into rs754556482 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:130126312 (GRCh38)
2:130883885 (GRCh37)
Canonical SPDI:: NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.130126312_130126324del, NC_000002.12:g.130126313_130126324del, NC_000002.12:g.130126316_130126324del, NC_000002.12:g.130126318_130126324del, NC_000002.12:g.130126319_130126324del, NC_000002.12:g.130126320_130126324del, NC_000002.12:g.130126321_130126324del, NC_000002.12:g.130126322_130126324del, NC_000002.12:g.130126323_130126324del, NC_000002.12:g.130126324del, NC_000002.12:g.130126324dup, NC_000002.12:g.130126323_130126324dup, NC_000002.12:g.130126322_130126324dup, NC_000002.12:g.130126321_130126324dup, NC_000002.12:g.130126320_130126324dup, NC_000002.12:g.130126319_130126324dup, NC_000002.12:g.130126318_130126324dup, NC_000002.12:g.130126317_130126324dup, NC_000002.12:g.130126316_130126324dup, NC_000002.12:g.130126315_130126324dup, NC_000002.12:g.130126314_130126324dup, NC_000002.12:g.130126313_130126324dup, NC_000002.12:g.130126312_130126324dup, NC_000002.12:g.130126311_130126324dup, NC_000002.12:g.130126308_130126324dup, NC_000002.11:g.130883885_130883897del, NC_000002.11:g.130883886_130883897del, NC_000002.11:g.130883889_130883897del, NC_000002.11:g.130883891_130883897del, NC_000002.11:g.130883892_130883897del, NC_000002.11:g.130883893_130883897del, NC_000002.11:g.130883894_130883897del, NC_000002.11:g.130883895_130883897del, NC_000002.11:g.130883896_130883897del, NC_000002.11:g.130883897del, NC_000002.11:g.130883897dup, NC_000002.11:g.130883896_130883897dup, NC_000002.11:g.130883895_130883897dup, NC_000002.11:g.130883894_130883897dup, NC_000002.11:g.130883893_130883897dup, NC_000002.11:g.130883892_130883897dup, NC_000002.11:g.130883891_130883897dup, NC_000002.11:g.130883890_130883897dup, NC_000002.11:g.130883889_130883897dup, NC_000002.11:g.130883888_130883897dup, NC_000002.11:g.130883887_130883897dup, NC_000002.11:g.130883886_130883897dup, NC_000002.11:g.130883885_130883897dup, NC_000002.11:g.130883884_130883897dup, NC_000002.11:g.130883881_130883897dup, NW_025791762.1:g.302871_302872dup, NW_025791762.1:g.302862_302872del, NW_025791762.1:g.302863_302872del, NW_025791762.1:g.302866_302872del, NW_025791762.1:g.302868_302872del, NW_025791762.1:g.302869_302872del, NW_025791762.1:g.302870_302872del, NW_025791762.1:g.302871_302872del, NW_025791762.1:g.302872del, NW_025791762.1:g.302872dup, NW_025791762.1:g.302870_302872dup, NW_025791762.1:g.302869_302872dup, NW_025791762.1:g.302868_302872dup, NW_025791762.1:g.302867_302872dup, NW_025791762.1:g.302866_302872dup, NW_025791762.1:g.302865_302872dup, NW_025791762.1:g.302864_302872dup, NW_025791762.1:g.302863_302872dup, NW_025791762.1:g.302862_302872dup, NW_025791762.1:g.302861_302872dup, NW_025791762.1:g.302860_302872dup, NW_025791762.1:g.302859_302872dup, NW_025791762.1:g.302858_302872dup, NW_025791762.1:g.302857_302872dup, NW_025791762.1:g.302854_302872dup

Select item 14913736353.

rs1491373635 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:130115622 (GRCh38)
2:130873195 (GRCh37)
Canonical SPDI:: NC_000002.12:130115621:CA:
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.130115622_130115623del, NC_000002.11:g.130873195_130873196del, NW_025791762.1:g.292188_292189del

Select item 14912667934.

rs1491266793 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:130115622 (GRCh38)
2:130873196 (GRCh37)
Canonical SPDI:: NC_000002.12:130115622:A:AA
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000002.12:g.130115623dup, NC_000002.11:g.130873196dup, NW_025791762.1:g.292189dup

Select item 14911579085.

rs1491157908 has merged into rs1294576041 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGG>-,GG,GGG,GGGG,GGGGG,GGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG [Show Flanks]
Chromosome:: 2:130080154 (GRCh38)
2:130837727 (GRCh37)
Canonical SPDI:: NC_000002.12:130080145:GGGGGGGGGGGGGGG:GGGGGGGG,NC_000002.12:130080145:GGGGGGGGGGGGGGG:GGGGGGGGGG,NC_000002.12:130080145:GGGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000002.12:130080145:GGGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000002.12:130080145:GGGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000002.12:130080145:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000002.12:130080145:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000002.12:130080145:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000002.12:130080145:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000002.12:g.130080154_130080160del, NC_000002.12:g.130080156_130080160del, NC_000002.12:g.130080157_130080160del, NC_000002.12:g.130080158_130080160del, NC_000002.12:g.130080159_130080160del, NC_000002.12:g.130080160del, NC_000002.12:g.130080160dup, NC_000002.12:g.130080159_130080160dup, NC_000002.12:g.130080158_130080160dup, NC_000002.11:g.130837727_130837733del, NC_000002.11:g.130837729_130837733del, NC_000002.11:g.130837730_130837733del, NC_000002.11:g.130837731_130837733del, NC_000002.11:g.130837732_130837733del, NC_000002.11:g.130837733del, NC_000002.11:g.130837733dup, NC_000002.11:g.130837732_130837733dup, NC_000002.11:g.130837731_130837733dup, NW_025791762.1:g.250672_250677dup, NW_025791762.1:g.250677del, NW_025791762.1:g.250677dup, NW_025791762.1:g.250676_250677dup, NW_025791762.1:g.250675_250677dup, NW_025791762.1:g.250674_250677dup, NW_025791762.1:g.250673_250677dup, NW_025791762.1:g.250671_250677dup, NW_025791762.1:g.250670_250677dup, NW_025791762.1:g.250669_250677dup

Select item 14910175536.

rs1491017553 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:130112026 (GRCh38)
2:130869599 (GRCh37)
Canonical SPDI:: NC_000002.12:130112025:CT:
Gene:: POTEF (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.130112026_130112027del, NC_000002.11:g.130869599_130869600del, NW_025791762.1:g.288600_288601del, NM_001099771.2:c.885_886del, XM_017004833.2:c.915_916del, XM_017004833.1:c.915_916del, XM_047445721.1:c.885_886del, NP_001093241.1:p.Lys295fs, XP_016860322.1:p.Lys305fs, XP_047301677.1:p.Lys295fs

Select item 14909926547.

rs1490992654 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:130087160 (GRCh38)
2:130844734 (GRCh37)
Canonical SPDI:: NC_000002.12:130087160:GG:GGG
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.130087162dup, NC_000002.11:g.130844735dup, NW_025791762.1:g.257679dup

Select item 14909638588.

rs1490963858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:130102308 (GRCh38)
2:130859881 (GRCh37)
Canonical SPDI:: NC_000002.12:130102307:A:T
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.130102308A>T, NC_000002.11:g.130859881A>T, NW_025791762.1:g.278886A>T

Select item 14909351789.

rs1490935178 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:130101347 (GRCh38)
2:130858920 (GRCh37)
Canonical SPDI:: NC_000002.12:130101346:T:C
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000002.12:g.130101347T>C, NC_000002.11:g.130858920T>C, NW_025791762.1:g.277925T>C

Select item 149088955010.

rs1490889550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:130119866 (GRCh38)
2:130877439 (GRCh37)
Canonical SPDI:: NC_000002.12:130119865:G:C
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.130119866G>C, NC_000002.11:g.130877439G>C, NW_025791762.1:g.296416G>C

Select item 149087138711.

rs1490871387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:130129312 (GRCh38)
2:130886885 (GRCh37)
Canonical SPDI:: NC_000002.12:130129311:G:A,NC_000002.12:130129311:G:T
Gene:: MED15P9 (Varview), POTEF (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000042/11 (TOPMED)
HGVS:: NC_000002.12:g.130129312G>A, NC_000002.12:g.130129312G>T, NC_000002.11:g.130886885G>A, NC_000002.11:g.130886885G>T, NW_025791762.1:g.305870G>A, NW_025791762.1:g.305870G>T

Select item 149085689912.

rs1490856899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:130130393 (GRCh38)
2:130887966 (GRCh37)
Canonical SPDI:: NC_000002.12:130130392:T:C
Gene:: MED15P9 (Varview), POTEF (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.130130393T>C, NC_000002.11:g.130887966T>C, NW_025791762.1:g.306951T>C

Select item 149083230413.

rs1490832304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:130126292 (GRCh38)
2:130883865 (GRCh37)
Canonical SPDI:: NC_000002.12:130126291:A:G
Gene:: POTEF (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_000002.12:g.130126292A>G, NC_000002.11:g.130883865A>G, NW_025791762.1:g.302842A>G

Select item 149081729914.

rs1490817299 has merged into rs754556482 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:130126312 (GRCh38)
2:130883885 (GRCh37)
Canonical SPDI:: NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:130126303:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.130126312_130126324del, NC_000002.12:g.130126313_130126324del, NC_000002.12:g.130126316_130126324del, NC_000002.12:g.130126318_130126324del, NC_000002.12:g.130126319_130126324del, NC_000002.12:g.130126320_130126324del, NC_000002.12:g.130126321_130126324del, NC_000002.12:g.130126322_130126324del, NC_000002.12:g.130126323_130126324del, NC_000002.12:g.130126324del, NC_000002.12:g.130126324dup, NC_000002.12:g.130126323_130126324dup, NC_000002.12:g.130126322_130126324dup, NC_000002.12:g.130126321_130126324dup, NC_000002.12:g.130126320_130126324dup, NC_000002.12:g.130126319_130126324dup, NC_000002.12:g.130126318_130126324dup, NC_000002.12:g.130126317_130126324dup, NC_000002.12:g.130126316_130126324dup, NC_000002.12:g.130126315_130126324dup, NC_000002.12:g.130126314_130126324dup, NC_000002.12:g.130126313_130126324dup, NC_000002.12:g.130126312_130126324dup, NC_000002.12:g.130126311_130126324dup, NC_000002.12:g.130126308_130126324dup, NC_000002.11:g.130883885_130883897del, NC_000002.11:g.130883886_130883897del, NC_000002.11:g.130883889_130883897del, NC_000002.11:g.130883891_130883897del, NC_000002.11:g.130883892_130883897del, NC_000002.11:g.130883893_130883897del, NC_000002.11:g.130883894_130883897del, NC_000002.11:g.130883895_130883897del, NC_000002.11:g.130883896_130883897del, NC_000002.11:g.130883897del, NC_000002.11:g.130883897dup, NC_000002.11:g.130883896_130883897dup, NC_000002.11:g.130883895_130883897dup, NC_000002.11:g.130883894_130883897dup, NC_000002.11:g.130883893_130883897dup, NC_000002.11:g.130883892_130883897dup, NC_000002.11:g.130883891_130883897dup, NC_000002.11:g.130883890_130883897dup, NC_000002.11:g.130883889_130883897dup, NC_000002.11:g.130883888_130883897dup, NC_000002.11:g.130883887_130883897dup, NC_000002.11:g.130883886_130883897dup, NC_000002.11:g.130883885_130883897dup, NC_000002.11:g.130883884_130883897dup, NC_000002.11:g.130883881_130883897dup, NW_025791762.1:g.302871_302872dup, NW_025791762.1:g.302862_302872del, NW_025791762.1:g.302863_302872del, NW_025791762.1:g.302866_302872del, NW_025791762.1:g.302868_302872del, NW_025791762.1:g.302869_302872del, NW_025791762.1:g.302870_302872del, NW_025791762.1:g.302871_302872del, NW_025791762.1:g.302872del, NW_025791762.1:g.302872dup, NW_025791762.1:g.302870_302872dup, NW_025791762.1:g.302869_302872dup, NW_025791762.1:g.302868_302872dup, NW_025791762.1:g.302867_302872dup, NW_025791762.1:g.302866_302872dup, NW_025791762.1:g.302865_302872dup, NW_025791762.1:g.302864_302872dup, NW_025791762.1:g.302863_302872dup, NW_025791762.1:g.302862_302872dup, NW_025791762.1:g.302861_302872dup, NW_025791762.1:g.302860_302872dup, NW_025791762.1:g.302859_302872dup, NW_025791762.1:g.302858_302872dup, NW_025791762.1:g.302857_302872dup, NW_025791762.1:g.302854_302872dup

Select item 149070749015.

rs1490707490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:130088794 (GRCh38)
2:130846367 (GRCh37)
Canonical SPDI:: NC_000002.12:130088793:G:C,NC_000002.12:130088793:G:T
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.130088794G>C, NC_000002.12:g.130088794G>T, NC_000002.11:g.130846367G>C, NC_000002.11:g.130846367G>T, NW_025791762.1:g.259313G>C, NW_025791762.1:g.259313G>T

Select item 149068993616.

rs1490689936 [Homo sapiens]

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

Select item 149064946817.

rs1490649468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:130126021 (GRCh38)
2:130883594 (GRCh37)
Canonical SPDI:: NC_000002.12:130126020:G:C
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.130126021G>C, NC_000002.11:g.130883594G>C, NW_025791762.1:g.302571G>C

Select item 149064354418.

rs1490643544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:130076113 (GRCh38)
2:130833686 (GRCh37)
Canonical SPDI:: NC_000002.12:130076112:A:G
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.130076113A>G, NC_000002.11:g.130833686A>G, NW_025791762.1:g.246646A>G

Select item 149055326919.

rs1490553269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:130101802 (GRCh38)
2:130859375 (GRCh37)
Canonical SPDI:: NC_000002.12:130101801:T:C
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.130101802T>C, NC_000002.11:g.130859375T>C, NW_025791762.1:g.278380T>C

Select item 149054373320.

rs1490543733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130087343 (GRCh38)
2:130844916 (GRCh37)
Canonical SPDI:: NC_000002.12:130087342:C:T
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.130087343C>T, NC_000002.11:g.130844916C>T, NW_025791762.1:g.257860C>T

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