SNP Links for Gene (Select 79178) - SNP

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Select item 14915757611.

rs1491575761 has merged into rs61363455 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:23554048 (GRCh38)
14:24023257 (GRCh37)
Canonical SPDI:: NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23554038:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAA=0.0051/3 (NorthernSweden)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000014.9:g.23554048_23554065del, NC_000014.9:g.23554050_23554065del, NC_000014.9:g.23554051_23554065del, NC_000014.9:g.23554052_23554065del, NC_000014.9:g.23554053_23554065del, NC_000014.9:g.23554054_23554065del, NC_000014.9:g.23554055_23554065del, NC_000014.9:g.23554056_23554065del, NC_000014.9:g.23554057_23554065del, NC_000014.9:g.23554058_23554065del, NC_000014.9:g.23554060_23554065del, NC_000014.9:g.23554062_23554065del, NC_000014.9:g.23554063_23554065del, NC_000014.9:g.23554064_23554065del, NC_000014.9:g.23554065del, NC_000014.9:g.23554065dup, NC_000014.9:g.23554064_23554065dup, NC_000014.9:g.23554063_23554065dup, NC_000014.9:g.23554062_23554065dup, NC_000014.9:g.23554061_23554065dup, NC_000014.9:g.23554047_23554065dup, NC_000014.8:g.24023257_24023274del, NC_000014.8:g.24023259_24023274del, NC_000014.8:g.24023260_24023274del, NC_000014.8:g.24023261_24023274del, NC_000014.8:g.24023262_24023274del, NC_000014.8:g.24023263_24023274del, NC_000014.8:g.24023264_24023274del, NC_000014.8:g.24023265_24023274del, NC_000014.8:g.24023266_24023274del, NC_000014.8:g.24023267_24023274del, NC_000014.8:g.24023269_24023274del, NC_000014.8:g.24023271_24023274del, NC_000014.8:g.24023272_24023274del, NC_000014.8:g.24023273_24023274del, NC_000014.8:g.24023274del, NC_000014.8:g.24023274dup, NC_000014.8:g.24023273_24023274dup, NC_000014.8:g.24023272_24023274dup, NC_000014.8:g.24023271_24023274dup, NC_000014.8:g.24023270_24023274dup, NC_000014.8:g.24023256_24023274dup

Select item 14915406502.

rs1491540650 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:23554038 (GRCh38)
14:24023247 (GRCh37)
Canonical SPDI:: NC_000014.9:23554037:CA:
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000014.9:g.23554038_23554039del, NC_000014.8:g.24023247_24023248del

Select item 14912586063.

rs1491258606 has merged into rs35367737 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 14:23554565 (GRCh38)
14:24023774 (GRCh37)
Canonical SPDI:: NC_000014.9:23554549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:23554549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:23554549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:23554549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:23554549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:23554549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23554549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23554549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.04833/29 (NorthernSweden)
-=0.4/16 (GENOME_DK)
-=0.41194/2063 (1000Genomes)
HGVS:: NC_000014.9:g.23554565_23554568del, NC_000014.9:g.23554566_23554568del, NC_000014.9:g.23554567_23554568del, NC_000014.9:g.23554568del, NC_000014.9:g.23554568dup, NC_000014.9:g.23554567_23554568dup, NC_000014.9:g.23554566_23554568dup, NC_000014.9:g.23554565_23554568dup, NC_000014.8:g.24023774_24023777del, NC_000014.8:g.24023775_24023777del, NC_000014.8:g.24023776_24023777del, NC_000014.8:g.24023777del, NC_000014.8:g.24023777dup, NC_000014.8:g.24023776_24023777dup, NC_000014.8:g.24023775_24023777dup, NC_000014.8:g.24023774_24023777dup

Select item 14912580824.

rs1491258082 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:23537241 (GRCh38)
14:24006451 (GRCh37)
Canonical SPDI:: NC_000014.9:23537241:C:CC
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000156/1 (1000Genomes)
C=0.000193/27 (GnomAD)
HGVS:: NC_000014.9:g.23537242dup, NC_000014.8:g.24006451dup

Select item 14912031105.

rs1491203110 has merged into rs372231563 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCCTCCTC>-,CTC,CTCCTC,CTCCTCCTCCTC,CTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTC [Show Flanks]
Chromosome:: 14:23551699 (GRCh38)
14:24020908 (GRCh37)
Canonical SPDI:: NC_000014.9:23551685:CCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTC,NC_000014.9:23551685:CCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTC,NC_000014.9:23551685:CCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTC,NC_000014.9:23551685:CCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTC,NC_000014.9:23551685:CCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000014.9:23551685:CCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTCCTCCTCCTCCTC=0./0 (ALFA)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000014.9:g.23551687CTC[4], NC_000014.9:g.23551687CTC[5], NC_000014.9:g.23551687CTC[6], NC_000014.9:g.23551687CTC[8], NC_000014.9:g.23551687CTC[9], NC_000014.9:g.23551687CTC[10], NC_000014.8:g.24020896CTC[4], NC_000014.8:g.24020896CTC[5], NC_000014.8:g.24020896CTC[6], NC_000014.8:g.24020896CTC[8], NC_000014.8:g.24020896CTC[9], NC_000014.8:g.24020896CTC[10], XM_017021716.3:c.-413AGG[4], XM_017021716.3:c.-413AGG[5], XM_017021716.3:c.-413AGG[6], XM_017021716.3:c.-413AGG[8], XM_017021716.3:c.-413AGG[9], XM_017021716.3:c.-413AGG[10], NM_033400.3:c.-413AGG[4], NM_033400.3:c.-413AGG[5], NM_033400.3:c.-413AGG[6], NM_033400.3:c.-413AGG[8], NM_033400.3:c.-413AGG[9], NM_033400.3:c.-413AGG[10], XM_047431822.1:c.-413AGG[4], XM_047431822.1:c.-413AGG[5], XM_047431822.1:c.-413AGG[6], XM_047431822.1:c.-413AGG[8], XM_047431822.1:c.-413AGG[9], XM_047431822.1:c.-413AGG[10], XM_047431823.1:c.-413AGG[4], XM_047431823.1:c.-413AGG[5], XM_047431823.1:c.-413AGG[6], XM_047431823.1:c.-413AGG[8], XM_047431823.1:c.-413AGG[9], XM_047431823.1:c.-413AGG[10]

Select item 14911396196.

rs1491139619 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 14:23548874 (GRCh38)
14:24018084 (GRCh37)
Canonical SPDI:: NC_000014.9:23548874::TG
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: TG=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23548874_23548875insTG, NC_000014.8:g.24018083_24018084insTG

Select item 14909842547.

rs1490984254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23525513 (GRCh38)
14:23994722 (GRCh37)
Canonical SPDI:: NC_000014.9:23525512:C:T
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.23525513C>T, NC_000014.8:g.23994722C>T, XM_011537245.4:c.4429G>A, XM_011537245.3:c.4429G>A, XM_011537245.2:c.4429G>A, XM_011537245.1:c.4429G>A, XM_005268135.4:c.1519G>A, XM_005268135.3:c.1519G>A, XM_005268135.2:c.1519G>A, XM_005268135.1:c.1519G>A, XM_017021716.3:c.4441G>A, XM_017021716.2:c.4441G>A, XM_017021716.1:c.4441G>A, NM_033400.3:c.4429G>A, NM_033400.2:c.4429G>A, XM_011537252.3:c.1519G>A, XM_011537252.2:c.1519G>A, XM_011537252.1:c.1519G>A, XM_017021718.3:c.1279G>A, XM_017021718.2:c.1279G>A, XM_017021718.1:c.1279G>A, XM_047431820.1:c.4441G>A, XM_047431822.1:c.4351G>A, XM_047431823.1:c.4339G>A, XM_047431818.1:c.4441G>A, XM_047431821.1:c.4441G>A, XM_047431824.1:c.4300G>A, XM_047431819.1:c.4441G>A, XM_047431825.1:c.1279G>A, XP_011535547.1:p.Gly1477Arg, XP_005268192.1:p.Gly507Arg, XP_016877205.1:p.Gly1481Arg, NP_207646.2:p.Gly1477Arg, XP_011535554.1:p.Gly507Arg, XP_016877207.1:p.Gly427Arg, XP_047287776.1:p.Gly1481Arg, XP_047287778.1:p.Gly1451Arg, XP_047287779.1:p.Gly1447Arg, XP_047287774.1:p.Gly1481Arg, XP_047287777.1:p.Gly1481Arg, XP_047287780.1:p.Gly1434Arg, XP_047287775.1:p.Gly1481Arg, XP_047287781.1:p.Gly427Arg

Select item 14909650098.

rs1490965009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:23557780 (GRCh38)
14:24026989 (GRCh37)
Canonical SPDI:: NC_000014.9:23557779:A:C
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.23557780A>C, NC_000014.8:g.24026989A>C, NG_011937.1:g.15291T>G

Select item 14909547589.

rs1490954758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:23518355 (GRCh38)
14:23987564 (GRCh37)
Canonical SPDI:: NC_000014.9:23518354:T:C
Gene:: THTPA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.23518355T>C, NC_000014.8:g.23987564T>C

Select item 149091092210.

rs1490910922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23519465 (GRCh38)
14:23988674 (GRCh37)
Canonical SPDI:: NC_000014.9:23519464:G:A
Gene:: THTPA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.23519465G>A, NC_000014.8:g.23988674G>A

Select item 149078579411.

rs1490785794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23559699 (GRCh38)
14:24028908 (GRCh37)
Canonical SPDI:: NC_000014.9:23559698:C:T
Gene:: AP1G2 (Varview), THTPA (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
HGVS:: NC_000014.9:g.23559699C>T, NC_000014.8:g.24028908C>T, NG_011937.1:g.13372G>A, NM_003917.5:c.*50G>A, NM_003917.4:c.*50G>A, NM_003917.3:c.*50G>A, NM_003917.2:c.*50G>A, NR_148937.2:n.3197G>A, NR_148937.1:n.2919G>A, NM_001354677.2:c.*50G>A, NM_001354677.1:c.*50G>A, NM_001354681.2:c.*50G>A, NM_001354681.1:c.*50G>A, NR_148938.2:n.2723G>A, NR_148938.1:n.2720G>A, NM_001282475.2:c.*50G>A, NM_001282475.1:c.*50G>A, NM_001282474.2:c.*50G>A, NM_001282474.1:c.*50G>A, NM_001354674.2:c.*50G>A, NM_001354674.1:c.*50G>A, NM_001354675.2:c.*50G>A, NM_001354675.1:c.*50G>A, NM_001354673.2:c.*50G>A, NM_001354673.1:c.*50G>A, XM_005268168.6:c.*50G>A, XM_005268168.5:c.*50G>A, XM_005268168.4:c.*50G>A, XM_005268168.3:c.*50G>A, XM_005268168.2:c.*50G>A, XM_005268168.1:c.*50G>A, NM_024328.6:c.*859C>T, XM_005268169.4:c.*50G>A, XM_005268169.3:c.*50G>A, XM_005268169.2:c.*50G>A, XM_005268169.1:c.*50G>A, XM_011537283.4:c.*50G>A, XM_011537283.3:c.*50G>A, XM_011537283.2:c.*50G>A, XM_011537283.1:c.*50G>A, XM_006720301.4:c.*50G>A, XM_006720301.3:c.*50G>A, XM_006720301.2:c.*50G>A, XM_006720301.1:c.*50G>A, XM_005268172.4:c.*50G>A, XM_005268172.3:c.*50G>A, XM_005268172.2:c.*50G>A, XM_005268172.1:c.*50G>A, XM_005268167.4:c.*50G>A, XM_005268167.3:c.*50G>A, XM_005268167.2:c.*50G>A, XM_005268167.1:c.*50G>A, XM_005268170.4:c.*50G>A, XM_005268170.3:c.*50G>A, XM_005268170.2:c.*50G>A, XM_005268170.1:c.*50G>A, XM_005268173.4:c.*50G>A, XM_005268173.3:c.*50G>A, XM_005268173.2:c.*50G>A, XM_005268173.1:c.*50G>A, NM_080545.1:c.*50G>A, XM_047431849.1:c.*50G>A, XM_047431854.1:c.*50G>A, XM_047431853.1:c.*50G>A, XM_047431850.1:c.*50G>A, XM_047431852.1:c.*50G>A, XM_047431856.1:c.*50G>A, XM_047431855.1:c.*50G>A, XM_047431851.1:c.*50G>A, XM_047431858.1:c.*50G>A, XM_047431857.1:c.*50G>A, XM_047431859.1:c.*50G>A, XM_047431863.1:c.*50G>A

Select item 149076918812.

rs1490769188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23556864 (GRCh38)
14:24026073 (GRCh37)
Canonical SPDI:: NC_000014.9:23556863:G:A
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23556864G>A, NC_000014.8:g.24026073G>A, NM_024328.6:c.107G>A, NM_024328.5:c.107G>A, NM_024328.4:c.107G>A, NM_001126339.3:c.107G>A, NM_001126339.2:c.107G>A, NM_001256062.2:c.107G>A, NM_001256062.1:c.107G>A, NM_001256322.2:c.107G>A, NM_001256322.1:c.107G>A, NM_001256321.2:c.107G>A, NM_001256321.1:c.107G>A, NM_001256323.2:c.107G>A, NM_001256323.1:c.107G>A, NP_077304.1:p.Arg36Gln, NP_001119811.1:p.Arg36Gln, NP_001242991.1:p.Arg36Gln, NP_001243251.1:p.Arg36Gln, NP_001243250.1:p.Arg36Gln, NP_001243252.1:p.Arg36Gln

Select item 149073198513.

rs1490731985 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCCCGGCCTCTGTT>- [Show Flanks]
Chromosome:: 14:23541196 (GRCh38)
14:24010405 (GRCh37)
Canonical SPDI:: NC_000014.9:23541194:TGCGCCCGGCCTCTGTT:T
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23541196_23541211del, NC_000014.8:g.24010405_24010420del

Select item 149066133814.

rs1490661338 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23553375 (GRCh38)
14:24022584 (GRCh37)
Canonical SPDI:: NC_000014.9:23553374:A:G
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000122/2 (ALFA)
G=0.000023/3 (GnomAD)
G=0.000849/14 (TOMMO)
G=0.002055/6 (KOREAN)
HGVS:: NC_000014.9:g.23553375A>G, NC_000014.8:g.24022584A>G

Select item 149064056015.

rs1490640560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23511470 (GRCh38)
14:23980679 (GRCh37)
Canonical SPDI:: NC_000014.9:23511469:A:G
Gene:: THTPA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.23511470A>G, NC_000014.8:g.23980679A>G

Select item 149053646416.

rs1490536464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23517218 (GRCh38)
14:23986427 (GRCh37)
Canonical SPDI:: NC_000014.9:23517217:G:A
Gene:: THTPA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.23517218G>A, NC_000014.8:g.23986427G>A

Select item 149052156717.

rs1490521567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23551022 (GRCh38)
14:24020231 (GRCh37)
Canonical SPDI:: NC_000014.9:23551021:A:G
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000014.9:g.23551022A>G, NC_000014.8:g.24020231A>G

Select item 149049368818.

rs1490493688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23549877 (GRCh38)
14:24019086 (GRCh37)
Canonical SPDI:: NC_000014.9:23549876:C:T
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.23549877C>T, NC_000014.8:g.24019086C>T

Select item 149032329819.

rs1490323298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:23510442 (GRCh38)
14:23979651 (GRCh37)
Canonical SPDI:: NC_000014.9:23510441:T:C
Gene:: THTPA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000014.9:g.23510442T>C, NC_000014.8:g.23979651T>C

Select item 149019261320.

rs1490192613 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGT>- [Show Flanks]
Chromosome:: 14:23553093 (GRCh38)
14:24022302 (GRCh37)
Canonical SPDI:: NC_000014.9:23553087:TAAGTAAGT:TAAGT
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23553089AAGT[1], NC_000014.8:g.24022298AAGT[1]

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