SNP Links for Gene (Select 51802) - SNP

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Select item 14914140211.

rs1491414021 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATAT [Show Flanks]
Chromosome:: 4:155829614 (GRCh38)
4:156750767 (GRCh37)
Canonical SPDI:: NC_000004.12:155829614:TATAT:TATATGTATAT
Gene:: ASIC5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATGTATAT=0./0 (ALFA)
TATATG=0.000004/1 (TOPMED)
TATATG=0.000015/1 (GnomAD)
HGVS:: NC_000004.12:g.155829615_155829619TA[2]TGTATAT[1], NC_000004.11:g.156750767_156750771TA[2]TGTATAT[1]

Select item 14910473332.

rs1491047333 has merged into rs35738215 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:155852481 (GRCh38)
4:156773633 (GRCh37)
Canonical SPDI:: NC_000004.12:155852471:TTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:155852471:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:155852471:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:155852471:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:155852471:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:155852471:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:155852471:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ASIC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
-=0.267/555 (1000Genomes)
HGVS:: NC_000004.12:g.155852481_155852483del, NC_000004.12:g.155852482_155852483del, NC_000004.12:g.155852483del, NC_000004.12:g.155852483dup, NC_000004.12:g.155852482_155852483dup, NC_000004.12:g.155852481_155852483dup, NC_000004.12:g.155852472_155852483dup, NC_000004.11:g.156773633_156773635del, NC_000004.11:g.156773634_156773635del, NC_000004.11:g.156773635del, NC_000004.11:g.156773635dup, NC_000004.11:g.156773634_156773635dup, NC_000004.11:g.156773633_156773635dup, NC_000004.11:g.156773624_156773635dup, NW_003315914.1:g.17104_17106del, NW_003315914.1:g.17105_17106del, NW_003315914.1:g.17106del, NW_003315914.1:g.17106dup, NW_003315914.1:g.17105_17106dup, NW_003315914.1:g.17104_17106dup, NW_003315914.1:g.17095_17106dup

Select item 14910435103.

rs1491043510 has merged into rs61023895 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:155844632 (GRCh38)
4:156765784 (GRCh37)
Canonical SPDI:: NC_000004.12:155844629:TTTT:TT
Gene:: ASIC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.155844632_155844633del, NC_000004.11:g.156765784_156765785del, NW_003315914.1:g.9255_9256del

Select item 14909913374.

rs1490991337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:155864527 (GRCh38)
4:156785679 (GRCh37)
Canonical SPDI:: NC_000004.12:155864526:C:G,NC_000004.12:155864526:C:T
Gene:: ASIC5 (Varview), LOC105377507 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0./0 (KOREAN)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.155864527C>G, NC_000004.12:g.155864527C>T, NC_000004.11:g.156785679C>G, NC_000004.11:g.156785679C>T, NW_003315914.1:g.29150C>G, NW_003315914.1:g.29150C>T, XR_939389.3:n.5840C>G, XR_939389.3:n.5840C>T

Select item 14909558855.

rs1490955885 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATACA>- [Show Flanks]
Chromosome:: 4:155829641 (GRCh38)
4:156750793 (GRCh37)
Canonical SPDI:: NC_000004.12:155829637:ACATATATATACA:ACA
Gene:: ASIC5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000038/4 (GnomAD)
HGVS:: NC_000004.12:g.155829641_155829650del, NC_000004.11:g.156750793_156750802del

Select item 14909313656.

rs1490931365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:155841364 (GRCh38)
4:156762516 (GRCh37)
Canonical SPDI:: NC_000004.12:155841363:C:T
Gene:: ASIC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.155841364C>T, NC_000004.11:g.156762516C>T, NW_003315914.1:g.5987C>T

Select item 14908408297.

rs1490840829 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:155866774 (GRCh38)
4:156787926 (GRCh37)
Canonical SPDI:: NC_000004.12:155866773:A:C
Gene:: ASIC5 (Varview), LOC105377507 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.155866774A>C, NC_000004.11:g.156787926A>C, NW_003315914.1:g.31397A>C, XR_939389.3:n.8087A>C

Select item 14907814808.

rs1490781480 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:155833584 (GRCh38)
4:156754736 (GRCh37)
Canonical SPDI:: NC_000004.12:155833583:AAAAA:AAAA
Gene:: ASIC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000142/2 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000042/11 (TOPMED)
HGVS:: NC_000004.12:g.155833588del, NC_000004.11:g.156754740del

Select item 14905892229.

rs1490589222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:155848922 (GRCh38)
4:156770074 (GRCh37)
Canonical SPDI:: NC_000004.12:155848921:A:G
Gene:: ASIC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.155848922A>G, NC_000004.11:g.156770074A>G, NW_003315914.1:g.13545A>G

Select item 149044938310.

rs1490449383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:155856172 (GRCh38)
4:156777324 (GRCh37)
Canonical SPDI:: NC_000004.12:155856171:A:T
Gene:: ASIC5 (Varview), LOC105377507 (Varview)
Functional Consequence:: 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_000004.12:g.155856172A>T, NC_000004.11:g.156777324A>T, NW_003315914.1:g.20795A>T

Select item 149044106811.

rs1490441068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:155841795 (GRCh38)
4:156762947 (GRCh37)
Canonical SPDI:: NC_000004.12:155841794:C:A
Gene:: ASIC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.155841795C>A, NC_000004.11:g.156762947C>A, NW_003315914.1:g.6418C>A

Select item 149020961112.

rs1490209611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:155848622 (GRCh38)
4:156769774 (GRCh37)
Canonical SPDI:: NC_000004.12:155848621:A:G
Gene:: ASIC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.155848622A>G, NC_000004.11:g.156769774A>G, NW_003315914.1:g.13245A>G

Select item 149018889013.

rs1490188890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:155861890 (GRCh38)
4:156783042 (GRCh37)
Canonical SPDI:: NC_000004.12:155861889:C:T
Gene:: ASIC5 (Varview), LOC105377507 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.155861890C>T, NC_000004.11:g.156783042C>T, NW_003315914.1:g.26513C>T, XR_939389.3:n.3203C>T, XR_939389.2:n.3610C>T, XR_952059.3:n.3631C>T, XR_952059.2:n.3610C>T

Select item 149017203814.

rs1490172038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:155865510 (GRCh38)
4:156786662 (GRCh37)
Canonical SPDI:: NC_000004.12:155865509:G:A
Gene:: ASIC5 (Varview), LOC105377507 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.155865510G>A, NC_000004.11:g.156786662G>A, NW_003315914.1:g.30133G>A, XR_939389.3:n.6823G>A

Select item 149016508815.

rs1490165088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:155832896 (GRCh38)
4:156754048 (GRCh37)
Canonical SPDI:: NC_000004.12:155832895:A:T
Gene:: ASIC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.155832896A>T, NC_000004.11:g.156754048A>T

Select item 149016445816.

rs1490164458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:155839887 (GRCh38)
4:156761039 (GRCh37)
Canonical SPDI:: NC_000004.12:155839886:C:A
Gene:: ASIC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.155839887C>A, NC_000004.11:g.156761039C>A, NW_003315914.1:g.4510C>A

Select item 149015032517.

rs1490150325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:155863716 (GRCh38)
4:156784868 (GRCh37)
Canonical SPDI:: NC_000004.12:155863715:G:A
Gene:: ASIC5 (Varview), LOC105377507 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.155863716G>A, NC_000004.11:g.156784868G>A, NW_003315914.1:g.28339G>A, XR_939389.3:n.5029G>A, NM_017419.3:c.79C>T, NM_017419.2:c.79C>T, XM_017008291.2:c.79C>T, XM_017008291.1:c.79C>T, NP_059115.1:p.Pro27Ser, XP_016863780.1:p.Pro27Ser

Select item 149002703618.

rs1490027036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:155839019 (GRCh38)
4:156760171 (GRCh37)
Canonical SPDI:: NC_000004.12:155839018:A:G
Gene:: ASIC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.155839019A>G, NC_000004.11:g.156760171A>G, NW_003315914.1:g.3642A>G

Select item 149002483219.

rs1490024832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:155867817 (GRCh38)
4:156788969 (GRCh37)
Canonical SPDI:: NC_000004.12:155867816:A:C
Gene:: ASIC5 (Varview), LOC105377507 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.155867817A>C, NC_000004.11:g.156788969A>C, NW_003315914.1:g.32440A>C

Select item 148975956920.

rs1489759569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:155853692 (GRCh38)
4:156774844 (GRCh37)
Canonical SPDI:: NC_000004.12:155853691:T:C
Gene:: ASIC5 (Varview), LOC105377507 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.155853692T>C, NC_000004.11:g.156774844T>C, NW_003315914.1:g.18315T>C

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