SNP Links for Gene (Select 79731) - SNP

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Select item 14915549751.

rs1491554975 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:78557837 (GRCh38)
11:78268884 (GRCh37)
Canonical SPDI:: NC_000011.10:78557837::A
Gene:: NARS2 (Varview), LOC101928896 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000272/34 (GnomAD)
HGVS:: NC_000011.10:g.78557837_78557838insA, NC_000011.9:g.78268883_78268884insA, NG_042046.1:g.22027_22028insT

Select item 14915373592.

rs1491537359 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 11:78554509 (GRCh38)
11:78265556 (GRCh37)
Canonical SPDI:: NC_000011.10:78554509:TGTGTGTGTGTGT:TGTGTGTGTGTGTCTGTGTGTGTGTGT
Gene:: NARS2 (Varview), LOC101928896 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGTGTGTCTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTGTGTGTGTC=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.78554510_78554522TG[6]TCTGTGTGTGTGTGT[1], NC_000011.9:g.78265556_78265568TG[6]TCTGTGTGTGTGTGT[1], NG_042046.1:g.25343_25355AC[6]AGACACACACACACA[1]

Select item 14915276633.

rs1491527663 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:78437992 (GRCh38)
11:78149039 (GRCh37)
Canonical SPDI:: NC_000011.10:78437992:G:GG
Gene:: NARS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000011.10:g.78437993dup, NC_000011.9:g.78149039dup, NG_042046.1:g.141872dup

Select item 14915055204.

rs1491505520 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:78463713 (GRCh38)
11:78174759 (GRCh37)
Canonical SPDI:: NC_000011.10:78463712:CA:
Gene:: NARS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000011.10:g.78463713_78463714del, NC_000011.9:g.78174759_78174760del, NG_042046.1:g.116151_116152del

Select item 14914905645.

rs1491490564 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:78502985 (GRCh38)
11:78214031 (GRCh37)
Canonical SPDI:: NC_000011.10:78502984:CT:
Gene:: NARS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0016/6 (ALSPAC)
-=0.0016/6 (TWINSUK)
HGVS:: NC_000011.10:g.78502985_78502986del, NC_000011.9:g.78214031_78214032del, NG_042046.1:g.76879_76880del

Select item 14914601156.

rs1491460115 has merged into rs945667539 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 11:78477938 (GRCh38)
11:78188984 (GRCh37)
Canonical SPDI:: NC_000011.10:78477928:CACACACACAC:CACACACAC,NC_000011.10:78477928:CACACACACAC:CACACACACACAC
Gene:: NARS2 (Varview), LOC105369403 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACAC=0./0 (ALFA)
HGVS:: NC_000011.10:g.78477930AC[4], NC_000011.10:g.78477930AC[6], NC_000011.9:g.78188976AC[4], NC_000011.9:g.78188976AC[6], NG_042046.1:g.101927TG[4], NG_042046.1:g.101927TG[6]

Select item 14914335927.

rs1491433592 has merged into rs71046981 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 11:78554523 (GRCh38)
11:78265569 (GRCh37)
Canonical SPDI:: NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:78554508:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: NARS2 (Varview), LOC101928896 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000011.10:g.78554509GT[7], NC_000011.10:g.78554509GT[8], NC_000011.10:g.78554509GT[9], NC_000011.10:g.78554509GT[10], NC_000011.10:g.78554509GT[12], NC_000011.10:g.78554509GT[13], NC_000011.10:g.78554509GT[14], NC_000011.10:g.78554509GT[15], NC_000011.10:g.78554509GT[16], NC_000011.10:g.78554509GT[17], NC_000011.10:g.78554509GT[18], NC_000011.10:g.78554509GT[19], NC_000011.10:g.78554509GT[20], NC_000011.10:g.78554509GT[21], NC_000011.10:g.78554509GT[22], NC_000011.10:g.78554509GT[23], NC_000011.10:g.78554509GT[24], NC_000011.10:g.78554509GT[25], NC_000011.10:g.78554509GT[26], NC_000011.10:g.78554509GT[27], NC_000011.9:g.78265555GT[7], NC_000011.9:g.78265555GT[8], NC_000011.9:g.78265555GT[9], NC_000011.9:g.78265555GT[10], NC_000011.9:g.78265555GT[12], NC_000011.9:g.78265555GT[13], NC_000011.9:g.78265555GT[14], NC_000011.9:g.78265555GT[15], NC_000011.9:g.78265555GT[16], NC_000011.9:g.78265555GT[17], NC_000011.9:g.78265555GT[18], NC_000011.9:g.78265555GT[19], NC_000011.9:g.78265555GT[20], NC_000011.9:g.78265555GT[21], NC_000011.9:g.78265555GT[22], NC_000011.9:g.78265555GT[23], NC_000011.9:g.78265555GT[24], NC_000011.9:g.78265555GT[25], NC_000011.9:g.78265555GT[26], NC_000011.9:g.78265555GT[27], NG_042046.1:g.25335AC[7], NG_042046.1:g.25335AC[8], NG_042046.1:g.25335AC[9], NG_042046.1:g.25335AC[10], NG_042046.1:g.25335AC[12], NG_042046.1:g.25335AC[13], NG_042046.1:g.25335AC[14], NG_042046.1:g.25335AC[15], NG_042046.1:g.25335AC[16], NG_042046.1:g.25335AC[17], NG_042046.1:g.25335AC[18], NG_042046.1:g.25335AC[19], NG_042046.1:g.25335AC[20], NG_042046.1:g.25335AC[21], NG_042046.1:g.25335AC[22], NG_042046.1:g.25335AC[23], NG_042046.1:g.25335AC[24], NG_042046.1:g.25335AC[25], NG_042046.1:g.25335AC[26], NG_042046.1:g.25335AC[27]

Select item 14914091418.

rs1491409141 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:78502987 (GRCh38)
11:78214033 (GRCh37)
Canonical SPDI:: NC_000011.10:78502985:TGT:T
Gene:: NARS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0607/225 (TWINSUK)
-=0.0631/243 (ALSPAC)
HGVS:: NC_000011.10:g.78502987_78502988del, NC_000011.9:g.78214033_78214034del, NG_042046.1:g.76878_76879del

Select item 14913980279.

rs1491398027 has merged into rs67863152 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:78470895 (GRCh38)
11:78181941 (GRCh37)
Canonical SPDI:: NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78470882:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NARS2 (Varview), LOC105369403 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.78470895_78470902del, NC_000011.10:g.78470896_78470902del, NC_000011.10:g.78470898_78470902del, NC_000011.10:g.78470899_78470902del, NC_000011.10:g.78470900_78470902del, NC_000011.10:g.78470901_78470902del, NC_000011.10:g.78470902del, NC_000011.10:g.78470902dup, NC_000011.10:g.78470901_78470902dup, NC_000011.10:g.78470900_78470902dup, NC_000011.10:g.78470899_78470902dup, NC_000011.10:g.78470898_78470902dup, NC_000011.10:g.78470897_78470902dup, NC_000011.10:g.78470896_78470902dup, NC_000011.10:g.78470895_78470902dup, NC_000011.10:g.78470894_78470902dup, NC_000011.10:g.78470892_78470902dup, NC_000011.10:g.78470886_78470902dup, NC_000011.9:g.78181941_78181948del, NC_000011.9:g.78181942_78181948del, NC_000011.9:g.78181944_78181948del, NC_000011.9:g.78181945_78181948del, NC_000011.9:g.78181946_78181948del, NC_000011.9:g.78181947_78181948del, NC_000011.9:g.78181948del, NC_000011.9:g.78181948dup, NC_000011.9:g.78181947_78181948dup, NC_000011.9:g.78181946_78181948dup, NC_000011.9:g.78181945_78181948dup, NC_000011.9:g.78181944_78181948dup, NC_000011.9:g.78181943_78181948dup, NC_000011.9:g.78181942_78181948dup, NC_000011.9:g.78181941_78181948dup, NC_000011.9:g.78181940_78181948dup, NC_000011.9:g.78181938_78181948dup, NC_000011.9:g.78181932_78181948dup, NG_042046.1:g.108975_108982del, NG_042046.1:g.108976_108982del, NG_042046.1:g.108978_108982del, NG_042046.1:g.108979_108982del, NG_042046.1:g.108980_108982del, NG_042046.1:g.108981_108982del, NG_042046.1:g.108982del, NG_042046.1:g.108982dup, NG_042046.1:g.108981_108982dup, NG_042046.1:g.108980_108982dup, NG_042046.1:g.108979_108982dup, NG_042046.1:g.108978_108982dup, NG_042046.1:g.108977_108982dup, NG_042046.1:g.108976_108982dup, NG_042046.1:g.108975_108982dup, NG_042046.1:g.108974_108982dup, NG_042046.1:g.108972_108982dup, NG_042046.1:g.108966_108982dup

Select item 149136150310.

rs1491361503 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 11:78477929 (GRCh38)
11:78188976 (GRCh37)
Canonical SPDI:: NC_000011.10:78477929:A:AAA
Gene:: NARS2 (Varview), LOC105369403 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AA=0.000086/12 (GnomAD)
AA=0.00014/37 (TOPMED)
HGVS:: NC_000011.10:g.78477930_78477931insAA, NC_000011.9:g.78188976_78188977insAA, NG_042046.1:g.101935_101936insTT

Select item 149135641411.

rs1491356414 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 149134261512.

rs1491342615 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 11:78435512 (GRCh38)
11:78146559 (GRCh37)
Canonical SPDI:: NC_000011.10:78435512::TTTTTTTTTT,NC_000011.10:78435512::TTTTTTTTTTT
Gene:: NARS2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000011.10:g.78435512_78435513insTTTTTTTTTT, NC_000011.10:g.78435512_78435513insTTTTTTTTTTT, NC_000011.9:g.78146558_78146559insTTTTTTTTTT, NC_000011.9:g.78146558_78146559insTTTTTTTTTTT, NG_042046.1:g.144352_144353insAAAAAAAAAA, NG_042046.1:g.144352_144353insAAAAAAAAAAA

Select item 149130726013.

rs1491307260 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 11:78569122 (GRCh38)
11:78280168 (GRCh37)
Canonical SPDI:: NC_000011.10:78569121:TT:
Gene:: NARS2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.78569122_78569123del, NC_000011.9:g.78280168_78280169del, NG_042046.1:g.10742_10743del

Select item 149130382314.

rs1491303823 has merged into rs1167838676 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:78563844 (GRCh38)
11:78274890 (GRCh37)
Canonical SPDI:: NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78563829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NARS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.78563844_78563852del, NC_000011.10:g.78563846_78563852del, NC_000011.10:g.78563847_78563852del, NC_000011.10:g.78563848_78563852del, NC_000011.10:g.78563849_78563852del, NC_000011.10:g.78563850_78563852del, NC_000011.10:g.78563851_78563852del, NC_000011.10:g.78563852del, NC_000011.10:g.78563852dup, NC_000011.10:g.78563851_78563852dup, NC_000011.10:g.78563850_78563852dup, NC_000011.10:g.78563849_78563852dup, NC_000011.10:g.78563848_78563852dup, NC_000011.10:g.78563847_78563852dup, NC_000011.10:g.78563846_78563852dup, NC_000011.10:g.78563844_78563852dup, NC_000011.9:g.78274890_78274898del, NC_000011.9:g.78274892_78274898del, NC_000011.9:g.78274893_78274898del, NC_000011.9:g.78274894_78274898del, NC_000011.9:g.78274895_78274898del, NC_000011.9:g.78274896_78274898del, NC_000011.9:g.78274897_78274898del, NC_000011.9:g.78274898del, NC_000011.9:g.78274898dup, NC_000011.9:g.78274897_78274898dup, NC_000011.9:g.78274896_78274898dup, NC_000011.9:g.78274895_78274898dup, NC_000011.9:g.78274894_78274898dup, NC_000011.9:g.78274893_78274898dup, NC_000011.9:g.78274892_78274898dup, NC_000011.9:g.78274890_78274898dup, NG_042046.1:g.16027_16035del, NG_042046.1:g.16029_16035del, NG_042046.1:g.16030_16035del, NG_042046.1:g.16031_16035del, NG_042046.1:g.16032_16035del, NG_042046.1:g.16033_16035del, NG_042046.1:g.16034_16035del, NG_042046.1:g.16035del, NG_042046.1:g.16035dup, NG_042046.1:g.16034_16035dup, NG_042046.1:g.16033_16035dup, NG_042046.1:g.16032_16035dup, NG_042046.1:g.16031_16035dup, NG_042046.1:g.16030_16035dup, NG_042046.1:g.16029_16035dup, NG_042046.1:g.16027_16035dup

Select item 149129640815.

rs1491296408 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:78561095 (GRCh38)
11:78272141 (GRCh37)
Canonical SPDI:: NC_000011.10:78561094:AT:
Gene:: NARS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (TWINSUK)
-=0.0003/1 (ALSPAC)
HGVS:: NC_000011.10:g.78561095_78561096del, NC_000011.9:g.78272141_78272142del, NG_042046.1:g.18769_18770del

Select item 149127305316.

rs1491273053 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:78563885 (GRCh38)
11:78274931 (GRCh37)
Canonical SPDI:: NC_000011.10:78563884:GT:
Gene:: NARS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00007/7 (GnomAD)
HGVS:: NC_000011.10:g.78563885_78563886del, NC_000011.9:g.78274931_78274932del, NG_042046.1:g.15979_15980del

Select item 149126509117.

rs1491265091 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 11:78435512 (GRCh38)
11:78146558 (GRCh37)
Canonical SPDI:: NC_000011.10:78435511:AC:
Gene:: NARS2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.78435512_78435513del, NC_000011.9:g.78146558_78146559del, NG_042046.1:g.144352_144353del

Select item 149123024918.

rs1491230249 [Homo sapiens]

Variant type:: SNV:
Alleles:: TG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149121845219.

rs1491218452 has merged into rs746818456 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:78435525 (GRCh38)
11:78146571 (GRCh37)
Canonical SPDI:: NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78435513:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NARS2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.78435525_78435536del, NC_000011.10:g.78435526_78435536del, NC_000011.10:g.78435527_78435536del, NC_000011.10:g.78435528_78435536del, NC_000011.10:g.78435529_78435536del, NC_000011.10:g.78435530_78435536del, NC_000011.10:g.78435531_78435536del, NC_000011.10:g.78435532_78435536del, NC_000011.10:g.78435533_78435536del, NC_000011.10:g.78435534_78435536del, NC_000011.10:g.78435535_78435536del, NC_000011.10:g.78435536del, NC_000011.10:g.78435536dup, NC_000011.10:g.78435535_78435536dup, NC_000011.10:g.78435534_78435536dup, NC_000011.10:g.78435533_78435536dup, NC_000011.10:g.78435532_78435536dup, NC_000011.10:g.78435531_78435536dup, NC_000011.10:g.78435530_78435536dup, NC_000011.10:g.78435529_78435536dup, NC_000011.10:g.78435528_78435536dup, NC_000011.10:g.78435527_78435536dup, NC_000011.10:g.78435526_78435536dup, NC_000011.10:g.78435525_78435536dup, NC_000011.10:g.78435524_78435536dup, NC_000011.10:g.78435523_78435536dup, NC_000011.10:g.78435522_78435536dup, NC_000011.10:g.78435521_78435536dup, NC_000011.10:g.78435520_78435536dup, NC_000011.10:g.78435518_78435536dup, NC_000011.10:g.78435516_78435536dup, NC_000011.10:g.78435515_78435536dup, NC_000011.10:g.78435514_78435536dup, NC_000011.10:g.78435536_78435537insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.78146571_78146582del, NC_000011.9:g.78146572_78146582del, NC_000011.9:g.78146573_78146582del, NC_000011.9:g.78146574_78146582del, NC_000011.9:g.78146575_78146582del, NC_000011.9:g.78146576_78146582del, NC_000011.9:g.78146577_78146582del, NC_000011.9:g.78146578_78146582del, NC_000011.9:g.78146579_78146582del, NC_000011.9:g.78146580_78146582del, NC_000011.9:g.78146581_78146582del, NC_000011.9:g.78146582del, NC_000011.9:g.78146582dup, NC_000011.9:g.78146581_78146582dup, NC_000011.9:g.78146580_78146582dup, NC_000011.9:g.78146579_78146582dup, NC_000011.9:g.78146578_78146582dup, NC_000011.9:g.78146577_78146582dup, NC_000011.9:g.78146576_78146582dup, NC_000011.9:g.78146575_78146582dup, NC_000011.9:g.78146574_78146582dup, NC_000011.9:g.78146573_78146582dup, NC_000011.9:g.78146572_78146582dup, NC_000011.9:g.78146571_78146582dup, NC_000011.9:g.78146570_78146582dup, NC_000011.9:g.78146569_78146582dup, NC_000011.9:g.78146568_78146582dup, NC_000011.9:g.78146567_78146582dup, NC_000011.9:g.78146566_78146582dup, NC_000011.9:g.78146564_78146582dup, NC_000011.9:g.78146562_78146582dup, NC_000011.9:g.78146561_78146582dup, NC_000011.9:g.78146560_78146582dup, NC_000011.9:g.78146582_78146583insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042046.1:g.144340_144351del, NG_042046.1:g.144341_144351del, NG_042046.1:g.144342_144351del, NG_042046.1:g.144343_144351del, NG_042046.1:g.144344_144351del, NG_042046.1:g.144345_144351del, NG_042046.1:g.144346_144351del, NG_042046.1:g.144347_144351del, NG_042046.1:g.144348_144351del, NG_042046.1:g.144349_144351del, NG_042046.1:g.144350_144351del, NG_042046.1:g.144351del, NG_042046.1:g.144351dup, NG_042046.1:g.144350_144351dup, NG_042046.1:g.144349_144351dup, NG_042046.1:g.144348_144351dup, NG_042046.1:g.144347_144351dup, NG_042046.1:g.144346_144351dup, NG_042046.1:g.144345_144351dup, NG_042046.1:g.144344_144351dup, NG_042046.1:g.144343_144351dup, NG_042046.1:g.144342_144351dup, NG_042046.1:g.144341_144351dup, NG_042046.1:g.144340_144351dup, NG_042046.1:g.144339_144351dup, NG_042046.1:g.144338_144351dup, NG_042046.1:g.144337_144351dup, NG_042046.1:g.144336_144351dup, NG_042046.1:g.144335_144351dup, NG_042046.1:g.144333_144351dup, NG_042046.1:g.144331_144351dup, NG_042046.1:g.144330_144351dup, NG_042046.1:g.144329_144351dup, NG_042046.1:g.144351_144352insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149120986620.

rs1491209866 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:78563829 (GRCh38)
11:78274875 (GRCh37)
Canonical SPDI:: NC_000011.10:78563828:CA:
Gene:: NARS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.78563829_78563830del, NC_000011.9:g.78274875_78274876del, NG_042046.1:g.16035_16036del

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