SNP Links for Gene (Select 79691) - SNP

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Select item 14915309161.

rs1491530916 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:114062368 (GRCh38)
3:113781215 (GRCh37)
Canonical SPDI:: NC_000003.12:114062367:CA:
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01534/182 (ALFA)
-=0.00123/57 (GnomAD)
-=0.0065/107 (TOMMO)
HGVS:: NC_000003.12:g.114062368_114062369del, NC_000003.11:g.113781215_113781216del

Select item 14914648742.

rs1491464874 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:114062392 (GRCh38)
3:113781239 (GRCh37)
Canonical SPDI:: NC_000003.12:114062390:AGA:A
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00024/4 (TOMMO)
HGVS:: NC_000003.12:g.114062392_114062393del, NC_000003.11:g.113781239_113781240del

Select item 14914052673.

rs1491405267 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:114062391 (GRCh38)
3:113781239 (GRCh37)
Canonical SPDI:: NC_000003.12:114062391::T
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.114062391_114062392insT, NC_000003.11:g.113781238_113781239insT

Select item 14913537454.

rs1491353745 has merged into rs143192501 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:114062382 (GRCh38)
3:113781229 (GRCh37)
Canonical SPDI:: NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062368:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.114062382_114062391del, NC_000003.12:g.114062383_114062391del, NC_000003.12:g.114062384_114062391del, NC_000003.12:g.114062385_114062391del, NC_000003.12:g.114062387_114062391del, NC_000003.12:g.114062388_114062391del, NC_000003.12:g.114062389_114062391del, NC_000003.12:g.114062390_114062391del, NC_000003.12:g.114062391del, NC_000003.12:g.114062391dup, NC_000003.12:g.114062390_114062391dup, NC_000003.12:g.114062389_114062391dup, NC_000003.12:g.114062387_114062391dup, NC_000003.12:g.114062386_114062391dup, NC_000003.12:g.114062385_114062391dup, NC_000003.12:g.114062384_114062391dup, NC_000003.12:g.114062383_114062391dup, NC_000003.12:g.114062382_114062391dup, NC_000003.12:g.114062378_114062391dup, NC_000003.12:g.114062377_114062391dup, NC_000003.12:g.114062376_114062391dup, NC_000003.12:g.114062374_114062391dup, NC_000003.12:g.114062372_114062391dup, NC_000003.11:g.113781229_113781238del, NC_000003.11:g.113781230_113781238del, NC_000003.11:g.113781231_113781238del, NC_000003.11:g.113781232_113781238del, NC_000003.11:g.113781234_113781238del, NC_000003.11:g.113781235_113781238del, NC_000003.11:g.113781236_113781238del, NC_000003.11:g.113781237_113781238del, NC_000003.11:g.113781238del, NC_000003.11:g.113781238dup, NC_000003.11:g.113781237_113781238dup, NC_000003.11:g.113781236_113781238dup, NC_000003.11:g.113781234_113781238dup, NC_000003.11:g.113781233_113781238dup, NC_000003.11:g.113781232_113781238dup, NC_000003.11:g.113781231_113781238dup, NC_000003.11:g.113781230_113781238dup, NC_000003.11:g.113781229_113781238dup, NC_000003.11:g.113781225_113781238dup, NC_000003.11:g.113781224_113781238dup, NC_000003.11:g.113781223_113781238dup, NC_000003.11:g.113781221_113781238dup, NC_000003.11:g.113781219_113781238dup

Select item 14912997425.

rs1491299742 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAG,ATAGATAG [Show Flanks]
Chromosome:: 3:114060492 (GRCh38)
3:113779340 (GRCh37)
Canonical SPDI:: NC_000003.12:114060492:TAG:TAGATAG,NC_000003.12:114060492:TAG:TAGATAGATAG
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAGATAGATAG=0./0 (ALFA)
HGVS:: NC_000003.12:g.114060495_114060496insATAG, NC_000003.12:g.114060495_114060496insATAGATAG, NC_000003.11:g.113779342_113779343insATAG, NC_000003.11:g.113779342_113779343insATAGATAG

Select item 14912308886.

rs1491230888 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:114060492 (GRCh38)
3:113779339 (GRCh37)
Canonical SPDI:: NC_000003.12:114060491:GT:
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000214/27 (GnomAD)
HGVS:: NC_000003.12:g.114060492_114060493del, NC_000003.11:g.113779339_113779340del

Select item 14911298897.

rs1491129889 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 3:114085730 (GRCh38)
3:113804577 (GRCh37)
Canonical SPDI:: NC_000003.12:114085729:TC:
Gene:: QTRT2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.114085730_114085731del, NC_000003.11:g.113804577_113804578del, NM_024638.4:c.1074_1075del, NM_024638.3:c.1074_1075del, NM_001256835.2:c.1110_1111del, NM_001256835.1:c.1110_1111del, NM_001256837.2:c.705_706del, NM_001256837.1:c.705_706del, NM_001256836.2:c.756_757del, NM_001256836.1:c.756_757del, XM_047448933.1:c.816_817del, XM_047448936.1:c.705_706del, XM_047448935.1:c.705_706del, NP_078914.1:p.Asn358fs, NP_001243764.1:p.Asn370fs, NP_001243766.1:p.Asn235fs, NP_001243765.1:p.Asn252fs, XP_047304889.1:p.Asn272fs, XP_047304892.1:p.Asn235fs, XP_047304891.1:p.Asn235fs

Select item 14910750788.

rs1491075078 has merged into rs35348583 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:114062021 (GRCh38)
3:113780868 (GRCh37)
Canonical SPDI:: NC_000003.12:114062011:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:114062011:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:114062011:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:114062011:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:114062011:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:114062011:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062011:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062011:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:114062011:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: QTRT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.114062021_114062030del, NC_000003.12:g.114062024_114062030del, NC_000003.12:g.114062025_114062030del, NC_000003.12:g.114062029_114062030del, NC_000003.12:g.114062030del, NC_000003.12:g.114062030dup, NC_000003.12:g.114062029_114062030dup, NC_000003.12:g.114062028_114062030dup, NC_000003.12:g.114062027_114062030dup, NC_000003.11:g.113780868_113780877del, NC_000003.11:g.113780871_113780877del, NC_000003.11:g.113780872_113780877del, NC_000003.11:g.113780876_113780877del, NC_000003.11:g.113780877del, NC_000003.11:g.113780877dup, NC_000003.11:g.113780876_113780877dup, NC_000003.11:g.113780875_113780877dup, NC_000003.11:g.113780874_113780877dup

Select item 14910532159.

rs1491053215 has merged into rs34428541 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 3:114065171 (GRCh38)
3:113784018 (GRCh37)
Canonical SPDI:: NC_000003.12:114065160:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:114065160:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:114065160:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:114065160:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: QTRT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.27895/1397 (1000Genomes)
T=0.29/174 (NorthernSweden)
T=0.30232/1121 (TWINSUK)
T=0.30695/1183 (ALSPAC)
T=0.35/14 (GENOME_DK)
HGVS:: NC_000003.12:g.114065171_114065172del, NC_000003.12:g.114065172del, NC_000003.12:g.114065172dup, NC_000003.12:g.114065171_114065172dup, NC_000003.11:g.113784018_113784019del, NC_000003.11:g.113784019del, NC_000003.11:g.113784019dup, NC_000003.11:g.113784018_113784019dup

Select item 149095023510.

rs1490950235 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:114074614 (GRCh38)
3:113793461 (GRCh37)
Canonical SPDI:: NC_000003.12:114074613:TT:T
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.114074615del, NC_000003.11:g.113793462del

Select item 149071408511.

rs1490714085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:114082605 (GRCh38)
3:113801452 (GRCh37)
Canonical SPDI:: NC_000003.12:114082604:A:G
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.114082605A>G, NC_000003.11:g.113801452A>G, XM_047448934.1:c.*48A>G

Select item 149064456412.

rs1490644564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:114084067 (GRCh38)
3:113802914 (GRCh37)
Canonical SPDI:: NC_000003.12:114084066:T:C
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.114084067T>C, NC_000003.11:g.113802914T>C

Select item 149057306113.

rs1490573061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:114083107 (GRCh38)
3:113801954 (GRCh37)
Canonical SPDI:: NC_000003.12:114083106:A:G
Gene:: QTRT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.114083107A>G, NC_000003.11:g.113801954A>G

Select item 149056490114.

rs1490564901 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:114066401 (GRCh38)
3:113785248 (GRCh37)
Canonical SPDI:: NC_000003.12:114066400:A:G
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.114066401A>G, NC_000003.11:g.113785248A>G

Select item 149055295415.

rs1490552954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:114083174 (GRCh38)
3:113802021 (GRCh37)
Canonical SPDI:: NC_000003.12:114083173:A:G
Gene:: QTRT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.114083174A>G, NC_000003.11:g.113802021A>G

Select item 149027259416.

rs1490272594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:114085297 (GRCh38)
3:113804144 (GRCh37)
Canonical SPDI:: NC_000003.12:114085296:C:T
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.0722/211 (KOREAN)
HGVS:: NC_000003.12:g.114085297C>T, NC_000003.11:g.113804144C>T

Select item 149022498717.

rs1490224987 has merged into rs71146306 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACACACACACACAC>-,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 3:114082218 (GRCh38)
3:113801065 (GRCh37)
Canonical SPDI:: NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:114082204:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACAC=0./0 (ALFA)
CACACACA=0.2676/1340 (1000Genomes)
HGVS:: NC_000003.12:g.114082206AC[6], NC_000003.12:g.114082206AC[8], NC_000003.12:g.114082206AC[9], NC_000003.12:g.114082206AC[11], NC_000003.12:g.114082206AC[12], NC_000003.12:g.114082206AC[13], NC_000003.12:g.114082206AC[14], NC_000003.12:g.114082206AC[15], NC_000003.12:g.114082206AC[16], NC_000003.12:g.114082206AC[17], NC_000003.12:g.114082206AC[18], NC_000003.12:g.114082206AC[19], NC_000003.12:g.114082206AC[20], NC_000003.12:g.114082206AC[21], NC_000003.12:g.114082206AC[22], NC_000003.12:g.114082206AC[23], NC_000003.12:g.114082206AC[25], NC_000003.12:g.114082206AC[26], NC_000003.12:g.114082206AC[27], NC_000003.12:g.114082206AC[28], NC_000003.12:g.114082206AC[29], NC_000003.12:g.114082206AC[30], NC_000003.12:g.114082206AC[31], NC_000003.12:g.114082206AC[32], NC_000003.12:g.114082206AC[33], NC_000003.12:g.114082206AC[34], NC_000003.12:g.114082206AC[35], NC_000003.12:g.114082206AC[36], NC_000003.11:g.113801053AC[6], NC_000003.11:g.113801053AC[8], NC_000003.11:g.113801053AC[9], NC_000003.11:g.113801053AC[11], NC_000003.11:g.113801053AC[12], NC_000003.11:g.113801053AC[13], NC_000003.11:g.113801053AC[14], NC_000003.11:g.113801053AC[15], NC_000003.11:g.113801053AC[16], NC_000003.11:g.113801053AC[17], NC_000003.11:g.113801053AC[18], NC_000003.11:g.113801053AC[19], NC_000003.11:g.113801053AC[20], NC_000003.11:g.113801053AC[21], NC_000003.11:g.113801053AC[22], NC_000003.11:g.113801053AC[23], NC_000003.11:g.113801053AC[25], NC_000003.11:g.113801053AC[26], NC_000003.11:g.113801053AC[27], NC_000003.11:g.113801053AC[28], NC_000003.11:g.113801053AC[29], NC_000003.11:g.113801053AC[30], NC_000003.11:g.113801053AC[31], NC_000003.11:g.113801053AC[32], NC_000003.11:g.113801053AC[33], NC_000003.11:g.113801053AC[34], NC_000003.11:g.113801053AC[35], NC_000003.11:g.113801053AC[36]

Select item 148978311018.

rs1489783110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:114075188 (GRCh38)
3:113794035 (GRCh37)
Canonical SPDI:: NC_000003.12:114075187:T:C
Gene:: QTRT2 (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_000003.12:g.114075188T>C, NC_000003.11:g.113794035T>C

Select item 148975670519.

rs1489756705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:114056374 (GRCh38)
3:113775221 (GRCh37)
Canonical SPDI:: NC_000003.12:114056373:C:G
Gene:: CCDC191 (Varview), QTRT2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.114056374C>G, NC_000003.11:g.113775221C>G

Select item 148971043120.

rs1489710431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:114076515 (GRCh38)
3:113795362 (GRCh37)
Canonical SPDI:: NC_000003.12:114076514:T:A
Gene:: QTRT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000003.12:g.114076515T>A, NC_000003.11:g.113795362T>A

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