SNP Links for Gene (Select 3035) - SNP

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Select item 14915812291.

rs1491581229 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:140687633 (GRCh38)
5:140067218 (GRCh37)
Canonical SPDI:: NC_000005.10:140687632:TA:
Gene:: HARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000078/11 (GnomAD)
HGVS:: NC_000005.10:g.140687633_140687634del, NC_000005.9:g.140067218_140067219del, NG_032158.1:g.8753_8754del, NG_021415.1:g.1201_1202del

Select item 14911494092.

rs1491149409 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:140675568 (GRCh38)
5:140055153 (GRCh37)
Canonical SPDI:: NC_000005.10:140675567:AT:
Gene:: HARS1 (Varview), DND1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000022/3 (GnomAD)
HGVS:: NC_000005.10:g.140675568_140675569del, NC_000005.9:g.140055153_140055154del, NG_032158.1:g.20818_20819del

Select item 14910658903.

rs1491065890 has merged into rs148394305 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 5:140680912 (GRCh38)
5:140060497 (GRCh37)
Canonical SPDI:: NC_000005.10:140680907:AAAAAAAA:AAAA,NC_000005.10:140680907:AAAAAAAA:AAAAAA,NC_000005.10:140680907:AAAAAAAA:AAAAAAA,NC_000005.10:140680907:AAAAAAAA:AAAAAAAAA,NC_000005.10:140680907:AAAAAAAA:AAAAAAAAAA,NC_000005.10:140680907:AAAAAAAA:AAAAAAAAAAA,NC_000005.10:140680907:AAAAAAAA:AAAAAAAAAAAA
Gene:: HARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.00503/3 (NorthernSweden)
HGVS:: NC_000005.10:g.140680912_140680915del, NC_000005.10:g.140680914_140680915del, NC_000005.10:g.140680915del, NC_000005.10:g.140680915dup, NC_000005.10:g.140680914_140680915dup, NC_000005.10:g.140680913_140680915dup, NC_000005.10:g.140680912_140680915dup, NC_000005.9:g.140060497_140060500del, NC_000005.9:g.140060499_140060500del, NC_000005.9:g.140060500del, NC_000005.9:g.140060500dup, NC_000005.9:g.140060499_140060500dup, NC_000005.9:g.140060498_140060500dup, NC_000005.9:g.140060497_140060500dup, NG_032158.1:g.15476_15479del, NG_032158.1:g.15478_15479del, NG_032158.1:g.15479del, NG_032158.1:g.15479dup, NG_032158.1:g.15478_15479dup, NG_032158.1:g.15477_15479dup, NG_032158.1:g.15476_15479dup

Select item 14909473344.

rs1490947334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:140691894 (GRCh38)
5:140071479 (GRCh37)
Canonical SPDI:: NC_000005.10:140691893:G:T
Gene:: HARS1 (Varview), HARS2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.140691894G>T, NC_000005.9:g.140071479G>T, NG_032158.1:g.4493C>A, NG_021415.1:g.5462G>T, NM_001363536.2:c.-226G>T, NM_001363536.1:c.-226G>T, NG_070993.1:g.690G>T

Select item 14908201335.

rs1490820133 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140683211 (GRCh38)
5:140062796 (GRCh37)
Canonical SPDI:: NC_000005.10:140683210:T:C
Gene:: HARS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.140683211T>C, NC_000005.9:g.140062796T>C, NG_032158.1:g.13176A>G, NM_002109.6:c.189A>G, NM_002109.5:c.189A>G, NM_002109.4:c.189A>G, NM_001258041.3:c.189A>G, NM_001258041.2:c.189A>G, NM_001258041.1:c.189A>G, NM_001289094.2:c.102A>G, NM_001289094.1:c.102A>G, NM_001289092.2:c.189A>G, NM_001289092.1:c.189A>G

Select item 14906669136.

rs1490666913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140683868 (GRCh38)
5:140063453 (GRCh37)
Canonical SPDI:: NC_000005.10:140683867:C:T
Gene:: HARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.140683868C>T, NC_000005.9:g.140063453C>T, NG_032158.1:g.12519G>A

Select item 14900716537.

rs1490071653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140674398 (GRCh38)
5:140053983 (GRCh37)
Canonical SPDI:: NC_000005.10:140674397:C:T
Gene:: HARS1 (Varview), DND1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.001274/21 (TOMMO)
HGVS:: NC_000005.10:g.140674398C>T, NC_000005.9:g.140053983C>T, NG_032158.1:g.21989G>A

Select item 14899881738.

rs1489988173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140675846 (GRCh38)
5:140055431 (GRCh37)
Canonical SPDI:: NC_000005.10:140675845:T:C
Gene:: HARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000223/1 (Estonian)
C=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.140675846T>C, NC_000005.9:g.140055431T>C, NG_032158.1:g.20541A>G

Select item 14899102589.

rs1489910258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140689114 (GRCh38)
5:140068699 (GRCh37)
Canonical SPDI:: NC_000005.10:140689113:T:C
Gene:: HARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140689114T>C, NC_000005.9:g.140068699T>C, NG_032158.1:g.7273A>G, NG_021415.1:g.2682T>C

Select item 148979931510.

rs1489799315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140682206 (GRCh38)
5:140061791 (GRCh37)
Canonical SPDI:: NC_000005.10:140682205:G:A
Gene:: HARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140682206G>A, NC_000005.9:g.140061791G>A, NG_032158.1:g.14181C>T

Select item 148977977811.

rs1489779778 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 5:140680947 (GRCh38)
5:140060532 (GRCh37)
Canonical SPDI:: NC_000005.10:140680946:A:
Gene:: HARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140680947del, NC_000005.9:g.140060532del, NG_032158.1:g.15440del

Select item 148893464512.

rs1488934645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140693444 (GRCh38)
5:140073029 (GRCh37)
Canonical SPDI:: NC_000005.10:140693443:C:T
Gene:: HARS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140693444C>T, NC_000005.9:g.140073029C>T, NG_032158.1:g.2943G>A, NG_021415.1:g.7012C>T

Select item 148890997013.

rs1488909970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140680571 (GRCh38)
5:140060156 (GRCh37)
Canonical SPDI:: NC_000005.10:140680570:T:C
Gene:: HARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.140680571T>C, NC_000005.9:g.140060156T>C, NG_032158.1:g.15816A>G

Select item 148883602414.

rs1488836024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:140693512 (GRCh38)
5:140073097 (GRCh37)
Canonical SPDI:: NC_000005.10:140693511:G:T
Gene:: HARS2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140693512G>T, NC_000005.9:g.140073097G>T, NG_032158.1:g.2875C>A, NG_021415.1:g.7080G>T, NM_001278732.2:c.-181G>T, NM_001278732.1:c.-181G>T

Select item 148861775915.

rs1488617759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140677091 (GRCh38)
5:140056676 (GRCh37)
Canonical SPDI:: NC_000005.10:140677090:C:T
Gene:: HARS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140677091C>T, NC_000005.9:g.140056676C>T, NG_032158.1:g.19296G>A, NM_002109.6:c.849G>A, NM_002109.5:c.849G>A, NM_002109.4:c.849G>A, NM_001258041.3:c.789G>A, NM_001258041.2:c.789G>A, NM_001258041.1:c.789G>A, NM_001258040.3:c.729G>A, NM_001258040.2:c.729G>A, NM_001258040.1:c.729G>A, NM_001258042.3:c.669G>A, NM_001258042.2:c.669G>A, NM_001258042.1:c.669G>A, NM_001289094.2:c.762G>A, NM_001289094.1:c.762G>A, NM_001289092.2:c.627G>A, NM_001289092.1:c.627G>A, NM_001289093.2:c.507G>A, NM_001289093.1:c.507G>A

Select item 148828719516.

rs1488287195 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:140681353 (GRCh38)
5:140060938 (GRCh37)
Canonical SPDI:: NC_000005.10:140681351:ACA:A
Gene:: HARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140681353_140681354del, NC_000005.9:g.140060938_140060939del, NG_032158.1:g.15034_15035del

Select item 148809473617.

rs1488094736 has merged into rs1210328592 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 5:140692604 (GRCh38)
5:140072189 (GRCh37)
Canonical SPDI:: NC_000005.10:140692603:TTTTTTT:TTTTTT,NC_000005.10:140692603:TTTTTTT:TTTTTTTT
Gene:: HARS1 (Varview), HARS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140692610del, NC_000005.10:g.140692610dup, NC_000005.9:g.140072195del, NC_000005.9:g.140072195dup, NG_032158.1:g.3783del, NG_032158.1:g.3783dup, NG_021415.1:g.6178del, NG_021415.1:g.6178dup

Select item 148809183218.

rs1488091832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:140689266 (GRCh38)
5:140068851 (GRCh37)
Canonical SPDI:: NC_000005.10:140689265:T:A
Gene:: HARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140689266T>A, NC_000005.9:g.140068851T>A, NG_032158.1:g.7121A>T, NG_021415.1:g.2834T>A

Select item 148766931019.

rs1487669310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:140691322 (GRCh38)
5:140070907 (GRCh37)
Canonical SPDI:: NC_000005.10:140691321:G:A,NC_000005.10:140691321:G:C
Gene:: HARS1 (Varview), HARS2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140691322G>A, NC_000005.10:g.140691322G>C, NC_000005.9:g.140070907G>A, NC_000005.9:g.140070907G>C, NG_032158.1:g.5065C>T, NG_032158.1:g.5065C>G, NM_002109.6:c.-18C>T, NM_002109.6:c.-18C>G, NM_002109.5:c.-18C>T, NM_002109.5:c.-18C>G, NM_002109.4:c.-18C>T, NM_002109.4:c.-18C>G, NM_001258041.3:c.-18C>T, NM_001258041.3:c.-18C>G, NM_001258041.2:c.-18C>T, NM_001258041.2:c.-18C>G, NM_001258041.1:c.-18C>T, NM_001258041.1:c.-18C>G, NM_001258040.3:c.-18C>T, NM_001258040.3:c.-18C>G, NM_001258040.2:c.-18C>T, NM_001258040.2:c.-18C>G, NM_001258040.1:c.-18C>T, NM_001258040.1:c.-18C>G, NM_001258042.3:c.-18C>T, NM_001258042.3:c.-18C>G, NM_001258042.2:c.-18C>T, NM_001258042.2:c.-18C>G, NM_001258042.1:c.-18C>T, NM_001258042.1:c.-18C>G, NM_001289094.2:c.-18C>T, NM_001289094.2:c.-18C>G, NM_001289094.1:c.-18C>T, NM_001289094.1:c.-18C>G, NM_001289092.2:c.-18C>T, NM_001289092.2:c.-18C>G, NM_001289092.1:c.-18C>T, NM_001289092.1:c.-18C>G, NM_001289093.2:c.-18C>T, NM_001289093.2:c.-18C>G, NM_001289093.1:c.-18C>T, NM_001289093.1:c.-18C>G, NG_021415.1:g.4890G>A, NG_021415.1:g.4890G>C, NG_070993.1:g.118G>A, NG_070993.1:g.118G>C

Select item 148760348620.

rs1487603486 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:140673930 (GRCh38)
5:140053515 (GRCh37)
Canonical SPDI:: NC_000005.10:140673929:CC:C
Gene:: HARS1 (Varview), DND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140673931del, NC_000005.9:g.140053516del, NG_032158.1:g.22457del, NM_002109.6:c.*327del, NM_002109.5:c.*327del, NM_002109.4:c.*327del, NM_001258041.3:c.*327del, NM_001258041.2:c.*327del, NM_001258041.1:c.*327del, NM_001258040.3:c.*327del, NM_001258040.2:c.*327del, NM_001258040.1:c.*327del, NM_001258042.3:c.*327del, NM_001258042.2:c.*327del, NM_001258042.1:c.*327del, NM_001289094.2:c.*327del, NM_001289094.1:c.*327del, NM_001289092.2:c.*327del, NM_001289092.1:c.*327del, NM_001289093.2:c.*327del, NM_001289093.1:c.*327del

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