SNP Links for Gene (Select 729522) - SNP

Links from Gene

Items: 1 to 20 of 15665

<< First< Prev

Page of 784

Next >Last >>

Select item 14915181391.

rs1491518139 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:178803768 (GRCh38)
5:178230770 (GRCh37)
Canonical SPDI:: NC_000005.10:178803768:A:AA
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.178803769dup, NC_000005.9:g.178230770dup

Select item 14914868222.

rs1491486822 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 5:178791007 (GRCh38)
5:178218008 (GRCh37)
Canonical SPDI:: NC_000005.10:178791003:CTCTC:CTC
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTC=0.000169/2 (ALFA)
-=0.000188/26 (GnomAD)
HGVS:: NC_000005.10:g.178791005TC[1], NC_000005.9:g.178218006TC[1]

Select item 14914772773.

rs1491477277 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 5:178790991 (GRCh38)
5:178217992 (GRCh37)
Canonical SPDI:: NC_000005.10:178790990:GC:
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.178790991_178790992del, NC_000005.9:g.178217992_178217993del

Select item 14914162854.

rs1491416285 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:178792269 (GRCh38)
5:178219270 (GRCh37)
Canonical SPDI:: NC_000005.10:178792268:CA:
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.178792269_178792270del, NC_000005.9:g.178219270_178219271del

Select item 14913564005.

rs1491356400 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:178803773 (GRCh38)
5:178230774 (GRCh37)
Canonical SPDI:: NC_000005.10:178803767:GAGAGAG:GAGAG
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.178803769AG[2], NC_000005.9:g.178230770AG[2]

Select item 14913184036.

rs1491318403 has merged into rs144964666 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACAC>-,AC,ACAC,ACACACAC [Show Flanks]
Chromosome:: 5:178790999 (GRCh38)
5:178218000 (GRCh37)
Canonical SPDI:: NC_000005.10:178790991:CACACACACACAC:CACACAC,NC_000005.10:178790991:CACACACACACAC:CACACACAC,NC_000005.10:178790991:CACACACACACAC:CACACACACAC,NC_000005.10:178790991:CACACACACACAC:CACACACACACACAC
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACAC=0./0 (ALFA)
-=0.00052/2 (ALSPAC)
-=0.04633/232 (1000Genomes)
-=0.12525/125 (GoNL)
-=0.14911/668 (Estonian)
-=0.15333/92 (NorthernSweden)
HGVS:: NC_000005.10:g.178790993AC[3], NC_000005.10:g.178790993AC[4], NC_000005.10:g.178790993AC[5], NC_000005.10:g.178790993AC[7], NC_000005.9:g.178217994AC[3], NC_000005.9:g.178217994AC[4], NC_000005.9:g.178217994AC[5], NC_000005.9:g.178217994AC[7]

Select item 14911976917.

rs1491197691 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 5:178781242 (GRCh38)
5:178208244 (GRCh37)
Canonical SPDI:: NC_000005.10:178781242:ACACACAC:ACACACACAC
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACAC=0./0 (ALFA)
AC=0.000004/1 (TOPMED)
AC=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.178781243AC[5], NC_000005.9:g.178208244AC[5]

Select item 14911881618.

rs1491188161 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:178805236 (GRCh38)
5:178232237 (GRCh37)
Canonical SPDI:: NC_000005.10:178805235:CT:
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000143/20 (GnomAD)
-=0.000156/1 (1000Genomes)
-=0.000159/42 (TOPMED)
HGVS:: NC_000005.10:g.178805236_178805237del, NC_000005.9:g.178232237_178232238del

Select item 14910323499.

rs1491032349 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:178801053 (GRCh38)
5:178228054 (GRCh37)
Canonical SPDI:: NC_000005.10:178801052:AT:
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00018/14 (GnomAD)
HGVS:: NC_000005.10:g.178801053_178801054del, NC_000005.9:g.178228054_178228055del

Select item 149102806710.

rs1491028067 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:178813333 (GRCh38)
5:178240334 (GRCh37)
Canonical SPDI:: NC_000005.10:178813331:ACA:A
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.178813333_178813334del, NC_000005.9:g.178240334_178240335del

Select item 149102063911.

rs1491020639 has merged into rs11453550 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 5:178799396 (GRCh38)
5:178226397 (GRCh37)
Canonical SPDI:: NC_000005.10:178799384:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:178799384:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:178799384:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:178799384:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:178799384:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2534/1269 (1000Genomes)
HGVS:: NC_000005.10:g.178799396_178799397del, NC_000005.10:g.178799397del, NC_000005.10:g.178799397dup, NC_000005.10:g.178799396_178799397dup, NC_000005.10:g.178799395_178799397dup, NC_000005.9:g.178226397_178226398del, NC_000005.9:g.178226398del, NC_000005.9:g.178226398dup, NC_000005.9:g.178226397_178226398dup, NC_000005.9:g.178226396_178226398dup

Select item 149080727812.

rs1490807278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:178767793 (GRCh38)
5:178194794 (GRCh37)
Canonical SPDI:: NC_000005.10:178767792:A:G
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.178767793A>G, NC_000005.9:g.178194794A>G

Select item 149077883013.

rs1490778830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:178805229 (GRCh38)
5:178232230 (GRCh37)
Canonical SPDI:: NC_000005.10:178805228:T:A,NC_000005.10:178805228:T:C
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.178805229T>A, NC_000005.10:g.178805229T>C, NC_000005.9:g.178232230T>A, NC_000005.9:g.178232230T>C

Select item 149072751514.

rs1490727515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:178793695 (GRCh38)
5:178220696 (GRCh37)
Canonical SPDI:: NC_000005.10:178793694:T:A,NC_000005.10:178793694:T:C
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.178793695T>A, NC_000005.10:g.178793695T>C, NC_000005.9:g.178220696T>A, NC_000005.9:g.178220696T>C

Select item 149068054115.

rs1490680541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:178766125 (GRCh38)
5:178193126 (GRCh37)
Canonical SPDI:: NC_000005.10:178766124:G:A
Gene:: AACSP1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.178766125G>A, NC_000005.9:g.178193126G>A, NR_024035.2:n.1558C>T, NR_024035.1:n.911C>T, NR_135095.1:n.1561C>T

Select item 149066370116.

rs1490663701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:178781126 (GRCh38)
5:178208127 (GRCh37)
Canonical SPDI:: NC_000005.10:178781125:C:T
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.178781126C>T, NC_000005.9:g.178208127C>T

Select item 149066307517.

rs1490663075 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:178771032 (GRCh38)
5:178198033 (GRCh37)
Canonical SPDI:: NC_000005.10:178771031:A:G
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.178771032A>G, NC_000005.9:g.178198033A>G

Select item 149066234718.

rs1490662347 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:178810850 (GRCh38)
5:178237851 (GRCh37)
Canonical SPDI:: NC_000005.10:178810849:CC:C
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.178810851del, NC_000005.9:g.178237852del

Select item 149065398519.

rs1490653985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:178803624 (GRCh38)
5:178230625 (GRCh37)
Canonical SPDI:: NC_000005.10:178803623:C:A
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.178803624C>A, NC_000005.9:g.178230625C>A

Select item 149056877820.

rs1490568778 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 5:178782564 (GRCh38)
5:178209565 (GRCh37)
Canonical SPDI:: NC_000005.10:178782563:CCCCCC:CCCCC,NC_000005.10:178782563:CCCCCC:CCCCCCC
Gene:: AACSP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000212/4 (TOMMO)
-=0.001092/2 (Korea1K)
HGVS:: NC_000005.10:g.178782569del, NC_000005.10:g.178782569dup, NC_000005.9:g.178209570del, NC_000005.9:g.178209570dup

<< First< Prev

Page of 784

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 15665

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity