SNP Links for Gene (Select 134265) - SNP

Links from Gene

Items: 1 to 20 of 15603

<< First< Prev

Page of 781

Next >Last >>

Select item 14915664961.

rs1491566496 has merged into rs60097014 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:149274893 (GRCh38)
5:148654456 (GRCh37)
Canonical SPDI:: NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: AFAP1L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.2991/1498 (1000Genomes)
HGVS:: NC_000005.10:g.149274893_149274902del, NC_000005.10:g.149274894_149274902del, NC_000005.10:g.149274896_149274902del, NC_000005.10:g.149274897_149274902del, NC_000005.10:g.149274898_149274902del, NC_000005.10:g.149274899_149274902del, NC_000005.10:g.149274900_149274902del, NC_000005.10:g.149274901_149274902del, NC_000005.10:g.149274902del, NC_000005.10:g.149274902dup, NC_000005.10:g.149274901_149274902dup, NC_000005.10:g.149274900_149274902dup, NC_000005.9:g.148654456_148654465del, NC_000005.9:g.148654457_148654465del, NC_000005.9:g.148654459_148654465del, NC_000005.9:g.148654460_148654465del, NC_000005.9:g.148654461_148654465del, NC_000005.9:g.148654462_148654465del, NC_000005.9:g.148654463_148654465del, NC_000005.9:g.148654464_148654465del, NC_000005.9:g.148654465del, NC_000005.9:g.148654465dup, NC_000005.9:g.148654464_148654465dup, NC_000005.9:g.148654463_148654465dup

Select item 14915491122.

rs1491549112 has merged into rs34521043 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 5:149333919 (GRCh38)
5:148713482 (GRCh37)
Canonical SPDI:: NC_000005.10:149333909:TGTGTGTGTGT:TGTGTGTGT,NC_000005.10:149333909:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: AFAP1L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0.121479/1984 (ALFA)
TG=0.056075/12 (Vietnamese)
TG=0.073079/468 (1000Genomes)
TG=0.087798/1471 (TOMMO)
TG=0.103712/190 (Korea1K)
TG=0.111462/15612 (GnomAD)
TG=0.144643/648 (Estonian)
TG=0.15/6 (GENOME_DK)
TG=0.165331/165 (GoNL)
TG=0.176667/106 (NorthernSweden)
HGVS:: NC_000005.10:g.149333911GT[4], NC_000005.10:g.149333911GT[6], NC_000005.9:g.148713474GT[4], NC_000005.9:g.148713474GT[6]

Select item 14913647623.

rs1491364762 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,G [Show Flanks]
Chromosome:: 5:149307817 (GRCh38)
5:148687381 (GRCh37)
Canonical SPDI:: NC_000005.10:149307817::A,NC_000005.10:149307817::C,NC_000005.10:149307817::G
Gene:: AFAP1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0036/16 (ALFA)
C=0.0033/6 (Korea1K)
HGVS:: NC_000005.10:g.149307817_149307818insA, NC_000005.10:g.149307817_149307818insC, NC_000005.10:g.149307817_149307818insG, NC_000005.9:g.148687380_148687381insA, NC_000005.9:g.148687380_148687381insC, NC_000005.9:g.148687380_148687381insG

Select item 14911744284.

rs1491174428 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:149343684 (GRCh38)
5:148723248 (GRCh37)
Canonical SPDI:: NC_000005.10:149343684:G:GG
Gene:: AFAP1L1 (Varview), GRPEL2 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000076/20 (TOPMED)
G=0.000079/11 (GnomAD)
HGVS:: NC_000005.10:g.149343685dup, NC_000005.9:g.148723248dup

Select item 14911201365.

rs1491120136 has merged into rs765623834 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 5:149313137 (GRCh38)
5:148692700 (GRCh37)
Canonical SPDI:: NC_000005.10:149313125:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:149313125:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:149313125:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:149313125:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:149313125:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:149313125:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:149313125:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:149313125:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: AFAP1L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.015/9 (NorthernSweden)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000005.10:g.149313137_149313141del, NC_000005.10:g.149313138_149313141del, NC_000005.10:g.149313139_149313141del, NC_000005.10:g.149313140_149313141del, NC_000005.10:g.149313141del, NC_000005.10:g.149313141dup, NC_000005.10:g.149313140_149313141dup, NC_000005.10:g.149313139_149313141dup, NC_000005.9:g.148692700_148692704del, NC_000005.9:g.148692701_148692704del, NC_000005.9:g.148692702_148692704del, NC_000005.9:g.148692703_148692704del, NC_000005.9:g.148692704del, NC_000005.9:g.148692704dup, NC_000005.9:g.148692703_148692704dup, NC_000005.9:g.148692702_148692704dup

Select item 14909083806.

rs1490908380 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 5:149299290 (GRCh38)
5:148678853 (GRCh37)
Canonical SPDI:: NC_000005.10:149299289:GGGG:GGG
Gene:: AFAP1L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149299293del, NC_000005.9:g.148678856del

Select item 14908341837.

rs1490834183 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAATG [Show Flanks]
Chromosome:: 5:149315555 (GRCh38)
5:148695119 (GRCh37)
Canonical SPDI:: NC_000005.10:149315555::G,NC_000005.10:149315555::GAATG
Gene:: AFAP1L1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
GAATG=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149315555_149315556insG, NC_000005.10:g.149315555_149315556insGAATG, NC_000005.9:g.148695118_148695119insG, NC_000005.9:g.148695118_148695119insGAATG

Select item 14908198708.

rs1490819870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:149331040 (GRCh38)
5:148710603 (GRCh37)
Canonical SPDI:: NC_000005.10:149331039:A:G
Gene:: AFAP1L1 (Varview), LOC124901103 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149331040A>G, NC_000005.9:g.148710603A>G

Select item 14906547019.

rs1490654701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:149330583 (GRCh38)
5:148710146 (GRCh37)
Canonical SPDI:: NC_000005.10:149330582:G:C
Gene:: AFAP1L1 (Varview), LOC124901103 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.149330583G>C, NC_000005.9:g.148710146G>C

Select item 149061140910.

rs1490611409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:149315795 (GRCh38)
5:148695358 (GRCh37)
Canonical SPDI:: NC_000005.10:149315794:G:A,NC_000005.10:149315794:G:C
Gene:: AFAP1L1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000005.10:g.149315795G>A, NC_000005.10:g.149315795G>C, NC_000005.9:g.148695358G>A, NC_000005.9:g.148695358G>C

Select item 149058923611.

rs1490589236 has merged into rs60097014 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:149274893 (GRCh38)
5:148654456 (GRCh37)
Canonical SPDI:: NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:149274884:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: AFAP1L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.2991/1498 (1000Genomes)
HGVS:: NC_000005.10:g.149274893_149274902del, NC_000005.10:g.149274894_149274902del, NC_000005.10:g.149274896_149274902del, NC_000005.10:g.149274897_149274902del, NC_000005.10:g.149274898_149274902del, NC_000005.10:g.149274899_149274902del, NC_000005.10:g.149274900_149274902del, NC_000005.10:g.149274901_149274902del, NC_000005.10:g.149274902del, NC_000005.10:g.149274902dup, NC_000005.10:g.149274901_149274902dup, NC_000005.10:g.149274900_149274902dup, NC_000005.9:g.148654456_148654465del, NC_000005.9:g.148654457_148654465del, NC_000005.9:g.148654459_148654465del, NC_000005.9:g.148654460_148654465del, NC_000005.9:g.148654461_148654465del, NC_000005.9:g.148654462_148654465del, NC_000005.9:g.148654463_148654465del, NC_000005.9:g.148654464_148654465del, NC_000005.9:g.148654465del, NC_000005.9:g.148654465dup, NC_000005.9:g.148654464_148654465dup, NC_000005.9:g.148654463_148654465dup

Select item 149056364612.

rs1490563646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149273854 (GRCh38)
5:148653417 (GRCh37)
Canonical SPDI:: NC_000005.10:149273853:C:T
Gene:: AFAP1L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149273854C>T, NC_000005.9:g.148653417C>T

Select item 149053164913.

rs1490531649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:149290048 (GRCh38)
5:148669611 (GRCh37)
Canonical SPDI:: NC_000005.10:149290047:A:G
Gene:: AFAP1L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149290048A>G, NC_000005.9:g.148669611A>G

Select item 149050028214.

rs1490500282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149290828 (GRCh38)
5:148670391 (GRCh37)
Canonical SPDI:: NC_000005.10:149290827:T:C
Gene:: AFAP1L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
C=0.000885/15 (TOMMO)
HGVS:: NC_000005.10:g.149290828T>C, NC_000005.9:g.148670391T>C

Select item 149049089215.

rs1490490892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:149286614 (GRCh38)
5:148666177 (GRCh37)
Canonical SPDI:: NC_000005.10:149286613:G:A
Gene:: AFAP1L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.149286614G>A, NC_000005.9:g.148666177G>A

Select item 149045235116.

rs1490452351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149305940 (GRCh38)
5:148685503 (GRCh37)
Canonical SPDI:: NC_000005.10:149305939:T:C
Gene:: AFAP1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149305940T>C, NC_000005.9:g.148685503T>C

Select item 149044454717.

rs1490444547 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149324468 (GRCh38)
5:148704031 (GRCh37)
Canonical SPDI:: NC_000005.10:149324467:T:C
Gene:: AFAP1L1 (Varview), LOC124901103 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000005.10:g.149324468T>C, NC_000005.9:g.148704031T>C, XR_007058989.1:n.661A>G

Select item 149042694918.

rs1490426949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:149327459 (GRCh38)
5:148707022 (GRCh37)
Canonical SPDI:: NC_000005.10:149327458:G:A,NC_000005.10:149327458:G:T
Gene:: AFAP1L1 (Varview), LOC124901103 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.149327459G>A, NC_000005.10:g.149327459G>T, NC_000005.9:g.148707022G>A, NC_000005.9:g.148707022G>T

Select item 149040703919.

rs1490407039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149339549 (GRCh38)
5:148719112 (GRCh37)
Canonical SPDI:: NC_000005.10:149339548:T:C
Gene:: AFAP1L1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.149339549T>C, NC_000005.9:g.148719112T>C

Select item 149035047920.

rs1490350479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:149340938 (GRCh38)
5:148720501 (GRCh37)
Canonical SPDI:: NC_000005.10:149340937:A:G
Gene:: AFAP1L1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.149340938A>G, NC_000005.9:g.148720501A>G, NM_152406.4:c.*908A>G, NM_152406.3:c.*908A>G, NM_152406.2:c.*908A>G, NM_001146337.3:c.*908A>G, NM_001146337.2:c.*908A>G, NM_001146337.1:c.*908A>G, XM_011537558.3:c.*908A>G, XM_011537558.2:c.*908A>G, XM_011537558.1:c.*908A>G, NM_001323062.2:c.*908A>G, NM_001323062.1:c.*908A>G, XM_047416723.1:c.*908A>G

<< First< Prev

Page of 781

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 15603

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity