SNP Links for Gene (Select 100852407) - SNP

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Select item 14910651111.

rs1491065111 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:3036120 (GRCh38)
11:3057351 (GRCh37)
Canonical SPDI:: NC_000011.10:3036120:A:AA
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000142/2 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.3036121dup, NC_000011.9:g.3057351dup, NT_187585.1:g.267146dup

Select item 14908971692.

rs1490897169 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:3036958 (GRCh38)
11:3058189 (GRCh37)
Canonical SPDI:: NC_000011.10:3036958:AAAAA:AAAAAA
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.3036963dup, NC_000011.9:g.3058193dup, NT_187585.1:g.267988dup

Select item 14908411683.

rs1490841168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:3034724 (GRCh38)
11:3055954 (GRCh37)
Canonical SPDI:: NC_000011.10:3034723:C:T
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.3034724C>T, NC_000011.9:g.3055954C>T, NT_187585.1:g.265748C>T

Select item 14906080054.

rs1490608005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:3031782 (GRCh38)
11:3053012 (GRCh37)
Canonical SPDI:: NC_000011.10:3031781:T:C
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.3031782T>C, NC_000011.9:g.3053012T>C, NT_187585.1:g.262839T>C

Select item 14904112175.

rs1490411217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:3037781 (GRCh38)
11:3059011 (GRCh37)
Canonical SPDI:: NC_000011.10:3037780:T:C
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.3037781T>C, NC_000011.9:g.3059011T>C, NT_187585.1:g.268806T>C

Select item 14897914756.

rs1489791475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:3029002 (GRCh38)
11:3050232 (GRCh37)
Canonical SPDI:: NC_000011.10:3029001:C:T
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.3029002C>T, NC_000011.9:g.3050232C>T, NT_187585.1:g.260059C>T, NM_001751.6:c.776G>A, NM_001751.5:c.776G>A, NM_139273.4:c.776G>A, NM_139273.3:c.776G>A, NM_001014437.3:c.1025G>A, NM_001014437.2:c.1025G>A, NM_001194997.2:c.1025G>A, NM_001194997.1:c.1025G>A, NR_036542.2:n.1128G>A, NR_036542.1:n.1156G>A, NR_165428.1:n.1128G>A, NM_001378139.1:c.746G>A, NM_001378140.1:c.500G>A, NR_165429.1:n.832G>A, XM_047427672.1:c.1025G>A, NM_001378138.1:c.746G>A, XM_047427673.1:c.746G>A, XM_047427674.1:c.1025G>A, NM_001378136.1:c.815G>A, NM_001378137.1:c.746G>A, NM_001014438.1:c.746G>A, NR_165430.1:n.832G>A, NP_001742.1:p.Gly259Asp, NP_644802.1:p.Gly259Asp, NP_001014437.1:p.Gly342Asp, NP_001181926.1:p.Gly342Asp, NP_001365068.1:p.Gly249Asp, NP_001365069.1:p.Gly167Asp, XP_047283628.1:p.Gly342Asp, NP_001365067.1:p.Gly249Asp, XP_047283629.1:p.Gly249Asp, XP_047283630.1:p.Gly342Asp, NP_001365065.1:p.Gly272Asp, NP_001365066.1:p.Gly249Asp

Select item 14895200857.

rs1489520085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:3030309 (GRCh38)
11:3051539 (GRCh37)
Canonical SPDI:: NC_000011.10:3030308:A:G
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.3030309A>G, NC_000011.9:g.3051539A>G, NT_187585.1:g.261366A>G, NR_046580.1:n.916A>G

Select item 14893801158.

rs1489380115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:3035991 (GRCh38)
11:3057221 (GRCh37)
Canonical SPDI:: NC_000011.10:3035990:G:A
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.3035991G>A, NC_000011.9:g.3057221G>A, NT_187585.1:g.267015G>A

Select item 14892828139.

rs1489282813 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:3039546 (GRCh38)
11:3060776 (GRCh37)
Canonical SPDI:: NC_000011.10:3039545:T:C
Gene:: CARS1 (Varview), CARS1-AS1 (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)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.3039546T>C, NC_000011.9:g.3060776T>C, NT_187585.1:g.270571T>C

Select item 148891524710.

rs1488915247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:3035552 (GRCh38)
11:3056782 (GRCh37)
Canonical SPDI:: NC_000011.10:3035551:C:G
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.3035552C>G, NC_000011.9:g.3056782C>G, NT_187585.1:g.266576C>G

Select item 148884425211.

rs1488844252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 11:3033108 (GRCh38)
11:3054338 (GRCh37)
Canonical SPDI:: NC_000011.10:3033107:A:C,NC_000011.10:3033107:A:T
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.3033108A>C, NC_000011.10:g.3033108A>T, NC_000011.9:g.3054338A>C, NC_000011.9:g.3054338A>T, NT_187585.1:g.264134A>C, NT_187585.1:g.264134A>T

Select item 148862297912.

rs1488622979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:3032876 (GRCh38)
11:3054106 (GRCh37)
Canonical SPDI:: NC_000011.10:3032875:T:C
Gene:: CARS1 (Varview), CARS1-AS1 (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_000011.10:g.3032876T>C, NC_000011.9:g.3054106T>C, NT_187585.1:g.263901T>C

Select item 148861964313.

rs1488619643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:3036541 (GRCh38)
11:3057771 (GRCh37)
Canonical SPDI:: NC_000011.10:3036540:T:C
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.3036541T>C, NC_000011.9:g.3057771T>C, NT_187585.1:g.267566T>C

Select item 148858642414.

rs1488586424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:3041071 (GRCh38)
11:3062301 (GRCh37)
Canonical SPDI:: NC_000011.10:3041070:G:A
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.3041071G>A, NC_000011.9:g.3062301G>A, NT_187585.1:g.272096G>A, NR_046580.1:n.2475G>A

Select item 148853280715.

rs1488532807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:3033567 (GRCh38)
11:3054797 (GRCh37)
Canonical SPDI:: NC_000011.10:3033566:A:T
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000561/1 (Korea1K)
HGVS:: NC_000011.10:g.3033567A>T, NC_000011.9:g.3054797A>T, NT_187585.1:g.264593A>T

Select item 148818883216.

rs1488188832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:3034159 (GRCh38)
11:3055389 (GRCh37)
Canonical SPDI:: NC_000011.10:3034158:G:T
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000867/1 (Korea1K)
T=0.001027/3 (KOREAN)
T=0.001805/30 (TOMMO)
HGVS:: NC_000011.10:g.3034159G>T, NC_000011.9:g.3055389G>T, NT_187585.1:g.265186G>T

Select item 148797735817.

rs1487977358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:3037300 (GRCh38)
11:3058530 (GRCh37)
Canonical SPDI:: NC_000011.10:3037299:T:C
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.3037300T>C, NC_000011.9:g.3058530T>C, NT_187585.1:g.268325T>C

Select item 148782769318.

rs1487827693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:3031271 (GRCh38)
11:3052501 (GRCh37)
Canonical SPDI:: NC_000011.10:3031270:G:T
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.3031271G>T, NC_000011.9:g.3052501G>T, NT_187585.1:g.262328G>T, NR_046580.1:n.1878G>T

Select item 148769332719.

rs1487693327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:3032009 (GRCh38)
11:3053239 (GRCh37)
Canonical SPDI:: NC_000011.10:3032008:T:C
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.01711/49 (KOREAN)
HGVS:: NC_000011.10:g.3032009T>C, NC_000011.9:g.3053239T>C, NT_187585.1:g.263066T>C

Select item 148746960720.

rs1487469607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:3030324 (GRCh38)
11:3051554 (GRCh37)
Canonical SPDI:: NC_000011.10:3030323:T:A,NC_000011.10:3030323:T:G
Gene:: CARS1 (Varview), CARS1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.3030324T>A, NC_000011.10:g.3030324T>G, NC_000011.9:g.3051554T>A, NC_000011.9:g.3051554T>G, NT_187585.1:g.261381T>A, NT_187585.1:g.261381T>G, NR_046580.1:n.931T>A, NR_046580.1:n.931T>G

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