SNP Links for Gene (Select 105373942) - SNP

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Select item 14914927171.

rs1491492717 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:235784598 (GRCh38)
2:236693242 (GRCh37)
Canonical SPDI:: NC_000002.12:235784597:CA:
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000002.12:g.235784598_235784599del, NC_000002.11:g.236693242_236693243del, NG_030314.1:g.295510_295511del

Select item 14914803402.

rs1491480340 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 2:235784597 (GRCh38)
2:236693241 (GRCh37)
Canonical SPDI:: NC_000002.12:235784596:GC:
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00031/5 (ALFA)
-=0.00028/26 (GnomAD)
HGVS:: NC_000002.12:g.235784597_235784598del, NC_000002.11:g.236693241_236693242del, NG_030314.1:g.295509_295510del

Select item 14913744193.

rs1491374419 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:235763301 (GRCh38)
2:236671946 (GRCh37)
Canonical SPDI:: NC_000002.12:235763301::C
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000076/20 (TOPMED)
C=0.000122/14 (GnomAD)
HGVS:: NC_000002.12:g.235763301_235763302insC, NC_000002.11:g.236671945_236671946insC, NG_030314.1:g.274213_274214insC

Select item 14913543124.

rs1491354312 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:235783052 (GRCh38)
2:236691696 (GRCh37)
Canonical SPDI:: NC_000002.12:235783050:TCT:T
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00514/61 (ALFA)
-=0.00124/21 (TOMMO)
-=0.00655/12 (Korea1K)
-=0.01222/925 (GnomAD)
-=0.02958/114 (ALSPAC)
-=0.03182/118 (TWINSUK)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000002.12:g.235783052_235783053del, NC_000002.11:g.236691696_236691697del, NG_030314.1:g.293964_293965del

Select item 14913510055.

rs1491351005 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:235758146 (GRCh38)
2:236666790 (GRCh37)
Canonical SPDI:: NC_000002.12:235758145:AT:
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000064/9 (GnomAD)
-=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.235758146_235758147del, NC_000002.11:g.236666790_236666791del, NG_030314.1:g.269058_269059del

Select item 14913433186.

rs1491343318 has merged into rs56145835 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 2:235763311 (GRCh38)
2:236671955 (GRCh37)
Canonical SPDI:: NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.01833/11 (NorthernSweden)
A=0.15/6 (GENOME_DK)
HGVS:: NC_000002.12:g.235763311_235763313del, NC_000002.12:g.235763312_235763313del, NC_000002.12:g.235763313del, NC_000002.12:g.235763313dup, NC_000002.12:g.235763312_235763313dup, NC_000002.11:g.236671955_236671957del, NC_000002.11:g.236671956_236671957del, NC_000002.11:g.236671957del, NC_000002.11:g.236671957dup, NC_000002.11:g.236671956_236671957dup, NG_030314.1:g.274223_274225del, NG_030314.1:g.274224_274225del, NG_030314.1:g.274225del, NG_030314.1:g.274225dup, NG_030314.1:g.274224_274225dup

Select item 14912829527.

rs1491282952 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 2:235784597 (GRCh38)
2:236693242 (GRCh37)
Canonical SPDI:: NC_000002.12:235784597::A,NC_000002.12:235784597::AA
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00227/37 (TOMMO)
A=0.00665/12 (Korea1K)
A=0.01189/392 (GnomAD)
HGVS:: NC_000002.12:g.235784597_235784598insA, NC_000002.12:g.235784597_235784598insAA, NC_000002.11:g.236693241_236693242insA, NC_000002.11:g.236693241_236693242insAA, NG_030314.1:g.295509_295510insA, NG_030314.1:g.295509_295510insAA

Select item 14911962628.

rs1491196262 has merged into rs1294984835 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGTGT [Show Flanks]
Chromosome:: 2:235758156 (GRCh38)
2:236666800 (GRCh37)
Canonical SPDI:: NC_000002.12:235758146:TGTGTGTGTGT:TGTGTGTGT,NC_000002.12:235758146:TGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.235758148GT[4], NC_000002.12:g.235758148GT[7], NC_000002.11:g.236666792GT[4], NC_000002.11:g.236666792GT[7], NG_030314.1:g.269060GT[4], NG_030314.1:g.269060GT[7]

Select item 14910779819.

rs1491077981 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 2:235784615 (GRCh38)
2:236693260 (GRCh37)
Canonical SPDI:: NC_000002.12:235784615::C,NC_000002.12:235784615::G
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.235784615_235784616insC, NC_000002.12:g.235784615_235784616insG, NC_000002.11:g.236693259_236693260insC, NC_000002.11:g.236693259_236693260insG, NG_030314.1:g.295527_295528insC, NG_030314.1:g.295527_295528insG

Select item 149106457810.

rs1491064578 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:235784616 (GRCh38)
2:236693260 (GRCh37)
Canonical SPDI:: NC_000002.12:235784615:AC:
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000125/17 (GnomAD)
HGVS:: NC_000002.12:g.235784616_235784617del, NC_000002.11:g.236693260_236693261del, NG_030314.1:g.295528_295529del

Select item 149104604411.

rs1491046044 [Homo sapiens]

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

Select item 149095318512.

rs1490953185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:235759810 (GRCh38)
2:236668454 (GRCh37)
Canonical SPDI:: NC_000002.12:235759809:A:G,NC_000002.12:235759809:A:T
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.235759810A>G, NC_000002.12:g.235759810A>T, NC_000002.11:g.236668454A>G, NC_000002.11:g.236668454A>T, NG_030314.1:g.270722A>G, NG_030314.1:g.270722A>T

Select item 149092214513.

rs1490922145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:235784731 (GRCh38)
2:236693375 (GRCh37)
Canonical SPDI:: NC_000002.12:235784730:G:A
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.235784731G>A, NC_000002.11:g.236693375G>A, NG_030314.1:g.295643G>A

Select item 149088017914.

rs1490880179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:235771586 (GRCh38)
2:236680230 (GRCh37)
Canonical SPDI:: NC_000002.12:235771585:T:G
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.235771586T>G, NC_000002.11:g.236680230T>G, NG_030314.1:g.282498T>G

Select item 149084253315.

rs1490842533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:235758248 (GRCh38)
2:236666892 (GRCh37)
Canonical SPDI:: NC_000002.12:235758247:T:G
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.235758248T>G, NC_000002.11:g.236666892T>G, NG_030314.1:g.269160T>G

Select item 149082147316.

rs1490821473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:235784797 (GRCh38)
2:236693441 (GRCh37)
Canonical SPDI:: NC_000002.12:235784796:C:G
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.235784797C>G, NC_000002.11:g.236693441C>G, NG_030314.1:g.295709C>G

Select item 149079152617.

rs1490791526 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 2:235770302 (GRCh38)
2:236678946 (GRCh37)
Canonical SPDI:: NC_000002.12:235770301:TTTTTTTT:TTTTTTT,NC_000002.12:235770301:TTTTTTTT:TTTTTTTTT
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.000071/1 (ALFA)
-=0.000022/3 (GnomAD)
-=0.00006/1 (TOMMO)
HGVS:: NC_000002.12:g.235770309del, NC_000002.12:g.235770309dup, NC_000002.11:g.236678953del, NC_000002.11:g.236678953dup, NG_030314.1:g.281221del, NG_030314.1:g.281221dup

Select item 149068413118.

rs1490684131 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:235754907 (GRCh38)
2:236663551 (GRCh37)
Canonical SPDI:: NC_000002.12:235754906:GG:G
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.235754908del, NC_000002.11:g.236663552del, NG_030314.1:g.265820del

Select item 149053629619.

rs1490536296 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 2:235753614 (GRCh38)
2:236662258 (GRCh37)
Canonical SPDI:: NC_000002.12:235753611:AGGAG:AG
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.235753614_235753616del, NC_000002.11:g.236662258_236662260del, NG_030314.1:g.264526_264528del

Select item 149047527620.

rs1490475276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:235776935 (GRCh38)
2:236685579 (GRCh37)
Canonical SPDI:: NC_000002.12:235776934:G:A
Gene:: AGAP1 (Varview), LOC105373942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.235776935G>A, NC_000002.11:g.236685579G>A, NG_030314.1:g.287847G>A

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