SNP Links for Gene (Select 100124534) - SNP

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Select item 14895229461.

rs1489522946 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGACACCTGCC>- [Show Flanks]
Chromosome:: 9:92293777 (GRCh38)
9:95056059 (GRCh37)
Canonical SPDI:: NC_000009.12:92293771:CTGCCTGACACCTGCC:CTGCC
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CTGCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.92293777_92293787del, NC_000009.11:g.95056059_95056069del, NG_051498.1:g.4975_4985del, NW_025791788.1:g.128506_128516del

Select item 14865971002.

rs1486597100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:92293570 (GRCh38)
9:95055852 (GRCh37)
Canonical SPDI:: NC_000009.12:92293569:C:A
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000064/9 (GnomAD)
HGVS:: NC_000009.12:g.92293570C>A, NC_000009.11:g.95055852C>A, NG_051498.1:g.5187G>T, NM_013417.4:c.-137G>T, NM_013417.3:c.-137G>T, NM_001378569.1:c.-137G>T, NM_001378578.1:c.-137G>T, NM_001374300.1:c.-137G>T, NW_025791788.1:g.128299C>A

Select item 14859605373.

rs1485960537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:92292630 (GRCh38)
9:95054912 (GRCh37)
Canonical SPDI:: NC_000009.12:92292629:T:C
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.92292630T>C, NC_000009.11:g.95054912T>C, NG_051498.1:g.6127A>G, NW_025791788.1:g.127359T>C

Select item 14858955414.

rs1485895541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:92293045 (GRCh38)
9:95055327 (GRCh37)
Canonical SPDI:: NC_000009.12:92293044:C:A
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.92293045C>A, NC_000009.11:g.95055327C>A, NG_051498.1:g.5712G>T, NW_025791788.1:g.127774C>A

Select item 14852222005.

rs1485222200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:92294119 (GRCh38)
9:95056401 (GRCh37)
Canonical SPDI:: NC_000009.12:92294118:C:G,NC_000009.12:92294118:C:T
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.92294119C>G, NC_000009.12:g.92294119C>T, NC_000009.11:g.95056401C>G, NC_000009.11:g.95056401C>T, NG_051498.1:g.4638G>C, NG_051498.1:g.4638G>A, NW_025791788.1:g.128848C>G, NW_025791788.1:g.128848C>T

Select item 14849957446.

rs1484995744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:92293157 (GRCh38)
9:95055439 (GRCh37)
Canonical SPDI:: NC_000009.12:92293156:T:C
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.92293157T>C, NC_000009.11:g.95055439T>C, NG_051498.1:g.5600A>G, NW_025791788.1:g.127886T>C

Select item 14841000387.

rs1484100038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:92292230 (GRCh38)
9:95054512 (GRCh37)
Canonical SPDI:: NC_000009.12:92292229:G:T
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.92292230G>T, NC_000009.11:g.95054512G>T, NG_051498.1:g.6527C>A, NW_025791788.1:g.126959G>T

Select item 14804948968.

rs1480494896 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:92293165 (GRCh38)
9:95055447 (GRCh37)
Canonical SPDI:: NC_000009.12:92293164:T:C
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.92293165T>C, NC_000009.11:g.95055447T>C, NG_051498.1:g.5592A>G, NW_025791788.1:g.127894T>C

Select item 14790967299.

rs1479096729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:92294070 (GRCh38)
9:95056352 (GRCh37)
Canonical SPDI:: NC_000009.12:92294069:A:G
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.92294070A>G, NC_000009.11:g.95056352A>G, NG_051498.1:g.4687T>C, NW_025791788.1:g.128799A>G

Select item 147865841910.

rs1478658419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:92294489 (GRCh38)
9:95056771 (GRCh37)
Canonical SPDI:: NC_000009.12:92294488:G:T
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.92294489G>T, NC_000009.11:g.95056771G>T, NG_051498.1:g.4268C>A, NW_025791788.1:g.129218G>T

Select item 147842465611.

rs1478424656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:92293400 (GRCh38)
9:95055682 (GRCh37)
Canonical SPDI:: NC_000009.12:92293399:G:A
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.92293400G>A, NC_000009.11:g.95055682G>A, NG_051498.1:g.5357C>T, NW_025791788.1:g.128129G>A

Select item 147681441812.

rs1476814418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:92294102 (GRCh38)
9:95056384 (GRCh37)
Canonical SPDI:: NC_000009.12:92294101:A:G
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.92294102A>G, NC_000009.11:g.95056384A>G, NG_051498.1:g.4655T>C, NW_025791788.1:g.128831A>G

Select item 147675177113.

rs1476751771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:92294396 (GRCh38)
9:95056678 (GRCh37)
Canonical SPDI:: NC_000009.12:92294395:A:G
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.92294396A>G, NC_000009.11:g.95056678A>G, NG_051498.1:g.4361T>C, NW_025791788.1:g.129125A>G

Select item 147594145114.

rs1475941451 has merged into rs57075703 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:92292194 (GRCh38)
9:95054476 (GRCh37)
Canonical SPDI:: NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:92292181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3962/1984 (1000Genomes)
HGVS:: NC_000009.12:g.92292194_92292200del, NC_000009.12:g.92292195_92292200del, NC_000009.12:g.92292196_92292200del, NC_000009.12:g.92292197_92292200del, NC_000009.12:g.92292198_92292200del, NC_000009.12:g.92292199_92292200del, NC_000009.12:g.92292200del, NC_000009.12:g.92292200dup, NC_000009.12:g.92292199_92292200dup, NC_000009.12:g.92292198_92292200dup, NC_000009.12:g.92292197_92292200dup, NC_000009.12:g.92292196_92292200dup, NC_000009.12:g.92292195_92292200dup, NC_000009.12:g.92292194_92292200dup, NC_000009.12:g.92292193_92292200dup, NC_000009.12:g.92292192_92292200dup, NC_000009.12:g.92292191_92292200dup, NC_000009.12:g.92292190_92292200dup, NC_000009.12:g.92292189_92292200dup, NC_000009.12:g.92292188_92292200dup, NC_000009.12:g.92292187_92292200dup, NC_000009.12:g.92292186_92292200dup, NC_000009.12:g.92292185_92292200dup, NC_000009.12:g.92292184_92292200dup, NC_000009.12:g.92292182_92292200dup, NC_000009.11:g.95054476_95054482del, NC_000009.11:g.95054477_95054482del, NC_000009.11:g.95054478_95054482del, NC_000009.11:g.95054479_95054482del, NC_000009.11:g.95054480_95054482del, NC_000009.11:g.95054481_95054482del, NC_000009.11:g.95054482del, NC_000009.11:g.95054482dup, NC_000009.11:g.95054481_95054482dup, NC_000009.11:g.95054480_95054482dup, NC_000009.11:g.95054479_95054482dup, NC_000009.11:g.95054478_95054482dup, NC_000009.11:g.95054477_95054482dup, NC_000009.11:g.95054476_95054482dup, NC_000009.11:g.95054475_95054482dup, NC_000009.11:g.95054474_95054482dup, NC_000009.11:g.95054473_95054482dup, NC_000009.11:g.95054472_95054482dup, NC_000009.11:g.95054471_95054482dup, NC_000009.11:g.95054470_95054482dup, NC_000009.11:g.95054469_95054482dup, NC_000009.11:g.95054468_95054482dup, NC_000009.11:g.95054467_95054482dup, NC_000009.11:g.95054466_95054482dup, NC_000009.11:g.95054464_95054482dup, NG_051498.1:g.6569_6575del, NG_051498.1:g.6570_6575del, NG_051498.1:g.6571_6575del, NG_051498.1:g.6572_6575del, NG_051498.1:g.6573_6575del, NG_051498.1:g.6574_6575del, NG_051498.1:g.6575del, NG_051498.1:g.6575dup, NG_051498.1:g.6574_6575dup, NG_051498.1:g.6573_6575dup, NG_051498.1:g.6572_6575dup, NG_051498.1:g.6571_6575dup, NG_051498.1:g.6570_6575dup, NG_051498.1:g.6569_6575dup, NG_051498.1:g.6568_6575dup, NG_051498.1:g.6567_6575dup, NG_051498.1:g.6566_6575dup, NG_051498.1:g.6565_6575dup, NG_051498.1:g.6564_6575dup, NG_051498.1:g.6563_6575dup, NG_051498.1:g.6562_6575dup, NG_051498.1:g.6561_6575dup, NG_051498.1:g.6560_6575dup, NG_051498.1:g.6559_6575dup, NG_051498.1:g.6557_6575dup, NW_025791788.1:g.126923_126929del, NW_025791788.1:g.126924_126929del, NW_025791788.1:g.126925_126929del, NW_025791788.1:g.126926_126929del, NW_025791788.1:g.126927_126929del, NW_025791788.1:g.126928_126929del, NW_025791788.1:g.126929del, NW_025791788.1:g.126929dup, NW_025791788.1:g.126928_126929dup, NW_025791788.1:g.126927_126929dup, NW_025791788.1:g.126926_126929dup, NW_025791788.1:g.126925_126929dup, NW_025791788.1:g.126924_126929dup, NW_025791788.1:g.126923_126929dup, NW_025791788.1:g.126922_126929dup, NW_025791788.1:g.126921_126929dup, NW_025791788.1:g.126920_126929dup, NW_025791788.1:g.126919_126929dup, NW_025791788.1:g.126918_126929dup, NW_025791788.1:g.126917_126929dup, NW_025791788.1:g.126916_126929dup, NW_025791788.1:g.126915_126929dup, NW_025791788.1:g.126914_126929dup, NW_025791788.1:g.126913_126929dup, NW_025791788.1:g.126911_126929dup

Select item 147485569315.

rs1474855693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:92293558 (GRCh38)
9:95055840 (GRCh37)
Canonical SPDI:: NC_000009.12:92293557:G:C
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_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_000009.12:g.92293558G>C, NC_000009.11:g.95055840G>C, NG_051498.1:g.5199C>G, NM_013417.4:c.-125C>G, NM_013417.3:c.-125C>G, NM_001378569.1:c.-125C>G, NM_001378578.1:c.-125C>G, NM_001374300.1:c.-125C>G, NW_025791788.1:g.128287G>C

Select item 147480911416.

rs1474809114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:92294187 (GRCh38)
9:95056469 (GRCh37)
Canonical SPDI:: NC_000009.12:92294186:A:G
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000009.12:g.92294187A>G, NC_000009.11:g.95056469A>G, NG_051498.1:g.4570T>C, NW_025791788.1:g.128916A>G

Select item 147450259417.

rs1474502594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:92293549 (GRCh38)
9:95055831 (GRCh37)
Canonical SPDI:: NC_000009.12:92293548:T:C
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.92293549T>C, NC_000009.11:g.95055831T>C, NG_051498.1:g.5208A>G, NM_013417.4:c.-116A>G, NM_013417.3:c.-116A>G, NM_001378569.1:c.-116A>G, NM_001378578.1:c.-116A>G, NM_001374300.1:c.-116A>G, NW_025791788.1:g.128278T>C

Select item 147430103018.

rs1474301030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:92292240 (GRCh38)
9:95054522 (GRCh37)
Canonical SPDI:: NC_000009.12:92292239:T:C
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.92292240T>C, NC_000009.11:g.95054522T>C, NG_051498.1:g.6517A>G, NW_025791788.1:g.126969T>C

Select item 147427799219.

rs1474277992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:92293467 (GRCh38)
9:95055749 (GRCh37)
Canonical SPDI:: NC_000009.12:92293466:C:T
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.92293467C>T, NC_000009.11:g.95055749C>T, NG_051498.1:g.5290G>A, NM_013417.4:c.-34G>A, NM_013417.3:c.-34G>A, NM_001378569.1:c.-34G>A, NM_001378578.1:c.-34G>A, NM_001374300.1:c.-34G>A, NW_025791788.1:g.128196C>T

Select item 147303580520.

rs1473035805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:92293645 (GRCh38)
9:95055927 (GRCh37)
Canonical SPDI:: NC_000009.12:92293644:G:A
Gene:: IARS1 (Varview), SNORA84 (Varview), MIR3651 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.92293645G>A, NC_000009.11:g.95055927G>A, NG_051498.1:g.5112C>T, NM_002161.6:c.-42C>T, NM_002161.5:c.-42C>T, NM_013417.4:c.-212C>T, NM_013417.3:c.-212C>T, NR_073446.2:n.53C>T, NR_073446.1:n.112C>T, NM_001378569.1:c.-212C>T, NM_001378578.1:c.-212C>T, NM_001374300.1:c.-212C>T, NM_001378575.1:c.-129C>T, NM_001378576.1:c.-122C>T, NM_001378574.1:c.-89C>T, NM_001378572.1:c.-42C>T, NM_001378571.1:c.-42C>T, NM_001378580.1:c.-122C>T, NM_001378573.1:c.-24C>T, NM_001378577.1:c.-42C>T, NM_001378579.1:c.-42C>T, NM_001374299.1:c.-42C>T, NM_001374301.1:c.-42C>T, NM_001378582.1:c.-42C>T, NM_001378583.1:c.-42C>T, NM_001378584.1:c.-42C>T, NM_001378585.1:c.-42C>T, NM_001378586.1:c.-42C>T, NW_025791788.1:g.128374G>A

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