SNP Links for Gene (Select 226) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14910147241.

rs1491014724 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGACACTTGACATTTAGCCCTTG [Show Flanks]
Chromosome:: 16:30055012 (GRCh38)
16:30066334 (GRCh37)
Canonical SPDI:: NC_000016.10:30055012:TGAGACACTTGACATTTAGCCCTTG:TGAGACACTTGACATTTAGCCCTTGAGACACTTGACATTTAGCCCTTG
Gene:: TLCD3B (Varview), LOC112694756 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGAGACACTTGACATTTAGCCCTTGAGACACTTGACATTTAGCCCTTG=0./0 (ALFA)
TGAGACACTTGACATTTAGCCCT=0.00002/1 (GnomAD)
HGVS:: NC_000016.10:g.30055015_30055037dup, NC_000016.9:g.30066336_30066358dup, NG_008010.1:g.6846_6868dup

Select item 14910100052.

rs1491010005 has merged into rs148169757 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:30061559 (GRCh38)
16:30072880 (GRCh37)
Canonical SPDI:: NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30061548:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC112694756 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000016.10:g.30061559_30061577del, NC_000016.10:g.30061561_30061577del, NC_000016.10:g.30061562_30061577del, NC_000016.10:g.30061563_30061577del, NC_000016.10:g.30061564_30061577del, NC_000016.10:g.30061565_30061577del, NC_000016.10:g.30061566_30061577del, NC_000016.10:g.30061567_30061577del, NC_000016.10:g.30061568_30061577del, NC_000016.10:g.30061569_30061577del, NC_000016.10:g.30061570_30061577del, NC_000016.10:g.30061571_30061577del, NC_000016.10:g.30061572_30061577del, NC_000016.10:g.30061573_30061577del, NC_000016.10:g.30061574_30061577del, NC_000016.10:g.30061576_30061577del, NC_000016.10:g.30061577del, NC_000016.10:g.30061577dup, NC_000016.10:g.30061576_30061577dup, NC_000016.10:g.30061575_30061577dup, NC_000016.10:g.30061574_30061577dup, NC_000016.10:g.30061573_30061577dup, NC_000016.10:g.30061572_30061577dup, NC_000016.10:g.30061571_30061577dup, NC_000016.10:g.30061570_30061577dup, NC_000016.10:g.30061569_30061577dup, NC_000016.10:g.30061567_30061577dup, NC_000016.9:g.30072880_30072898del, NC_000016.9:g.30072882_30072898del, NC_000016.9:g.30072883_30072898del, NC_000016.9:g.30072884_30072898del, NC_000016.9:g.30072885_30072898del, NC_000016.9:g.30072886_30072898del, NC_000016.9:g.30072887_30072898del, NC_000016.9:g.30072888_30072898del, NC_000016.9:g.30072889_30072898del, NC_000016.9:g.30072890_30072898del, NC_000016.9:g.30072891_30072898del, NC_000016.9:g.30072892_30072898del, NC_000016.9:g.30072893_30072898del, NC_000016.9:g.30072894_30072898del, NC_000016.9:g.30072895_30072898del, NC_000016.9:g.30072897_30072898del, NC_000016.9:g.30072898del, NC_000016.9:g.30072898dup, NC_000016.9:g.30072897_30072898dup, NC_000016.9:g.30072896_30072898dup, NC_000016.9:g.30072895_30072898dup, NC_000016.9:g.30072894_30072898dup, NC_000016.9:g.30072893_30072898dup, NC_000016.9:g.30072892_30072898dup, NC_000016.9:g.30072891_30072898dup, NC_000016.9:g.30072890_30072898dup, NC_000016.9:g.30072888_30072898dup, NG_008010.1:g.13390_13408del, NG_008010.1:g.13392_13408del, NG_008010.1:g.13393_13408del, NG_008010.1:g.13394_13408del, NG_008010.1:g.13395_13408del, NG_008010.1:g.13396_13408del, NG_008010.1:g.13397_13408del, NG_008010.1:g.13398_13408del, NG_008010.1:g.13399_13408del, NG_008010.1:g.13400_13408del, NG_008010.1:g.13401_13408del, NG_008010.1:g.13402_13408del, NG_008010.1:g.13403_13408del, NG_008010.1:g.13404_13408del, NG_008010.1:g.13405_13408del, NG_008010.1:g.13407_13408del, NG_008010.1:g.13408del, NG_008010.1:g.13408dup, NG_008010.1:g.13407_13408dup, NG_008010.1:g.13406_13408dup, NG_008010.1:g.13405_13408dup, NG_008010.1:g.13404_13408dup, NG_008010.1:g.13403_13408dup, NG_008010.1:g.13402_13408dup, NG_008010.1:g.13401_13408dup, NG_008010.1:g.13400_13408dup, NG_008010.1:g.13398_13408dup

Select item 14909753843.

rs1490975384 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGC [Show Flanks]
Chromosome:: 16:30065067 (GRCh38)
16:30076389 (GRCh37)
Canonical SPDI:: NC_000016.10:30065067:GCTGC:GCTGCTGC
Gene:: ALDOA (Varview), LOC112694756 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCTGCTGC=0.000071/1 (ALFA)
GCT=0.000015/4 (TOPMED)
GCT=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.30065070_30065072dup, NC_000016.9:g.30076391_30076393dup, NG_008010.1:g.16901_16903dup

Select item 14901579044.

rs1490157904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:30064711 (GRCh38)
16:30076032 (GRCh37)
Canonical SPDI:: NC_000016.10:30064710:T:G
Gene:: ALDOA (Varview), LOC112694756 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30064711T>G, NC_000016.9:g.30076032T>G, NG_008010.1:g.16542T>G, NM_001127617.2:c.-95T>G

Select item 14901153105.

rs1490115310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:30056129 (GRCh38)
16:30067450 (GRCh37)
Canonical SPDI:: NC_000016.10:30056128:A:T
Gene:: LOC112694756 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00184/8 (ALFA)
T=0.00131/37 (TOMMO)
HGVS:: NC_000016.10:g.30056129A>T, NC_000016.9:g.30067450A>T, NG_008010.1:g.7960A>T

Select item 14899935786.

rs1489993578 has merged into rs757632824 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 16:30064282 (GRCh38)
16:30075603 (GRCh37)
Canonical SPDI:: NC_000016.10:30064281:AAAAAAAA:AAAAAAA,NC_000016.10:30064281:AAAAAAAA:AAAAAAAAA
Gene:: ALDOA (Varview), LOC112694756 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0.00011/2 (ALFA)
-=0.00022/1 (Estonian)
-=0.00062/4 (1000Genomes)
HGVS:: NC_000016.10:g.30064289del, NC_000016.10:g.30064289dup, NC_000016.9:g.30075610del, NC_000016.9:g.30075610dup, NG_008010.1:g.16120del, NG_008010.1:g.16120dup, NM_184043.2:c.-238del, NM_184043.2:c.-238dup

Select item 14899868937.

rs1489986893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:30059112 (GRCh38)
16:30070433 (GRCh37)
Canonical SPDI:: NC_000016.10:30059111:G:C
Gene:: LOC112694756 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30059112G>C, NC_000016.9:g.30070433G>C, NG_008010.1:g.10943G>C

Select item 14897692478.

rs1489769247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:30057466 (GRCh38)
16:30068787 (GRCh37)
Canonical SPDI:: NC_000016.10:30057465:T:G
Gene:: LOC112694756 (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_000016.10:g.30057466T>G, NC_000016.9:g.30068787T>G, NG_008010.1:g.9297T>G

Select item 14896317739.

rs1489631773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:30070315 (GRCh38)
16:30081636 (GRCh37)
Canonical SPDI:: NC_000016.10:30070314:T:G
Gene:: ALDOA (Varview), LOC112694756 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30070315T>G, NC_000016.9:g.30081636T>G, NG_008010.1:g.22146T>G, NM_184041.5:c.*103T>G, NM_184041.4:c.*103T>G, NM_184041.3:c.*103T>G, NM_184041.2:c.*103T>G, NM_001243177.4:c.*103T>G, NM_001243177.3:c.*103T>G, NM_001243177.2:c.*103T>G, NM_001243177.1:c.*103T>G, NM_001127617.2:c.*103T>G, NM_184043.2:c.*103T>G, NM_000034.3:c.*103T>G, NM_001365307.2:c.*1707T>G, NM_001365307.1:c.*1707T>G, NM_001365305.2:c.*1707T>G, NM_001365305.1:c.*1707T>G, NM_001365304.2:c.*1707T>G, NM_001365304.1:c.*1707T>G, NM_001355564.1:c.*103T>G, NM_001355562.1:c.*103T>G, NM_001243175.1:c.*103T>G, NM_001355563.1:c.*103T>G, NM_001355565.1:c.*103T>G

Select item 148956827310.

rs1489568273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30052861 (GRCh38)
16:30064182 (GRCh37)
Canonical SPDI:: NC_000016.10:30052860:G:A
Gene:: TLCD3B (Varview), LOC112694756 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30052861G>A, NC_000016.9:g.30064182G>A, NG_008010.1:g.4692G>A, XM_005255613.4:c.-381C>T, XM_005255613.3:c.-381C>T, XM_005255613.2:c.-381C>T, XM_005255613.1:c.-381C>T, XM_005255614.4:c.-321C>T, XM_005255614.3:c.-321C>T, XM_005255614.2:c.-321C>T, XM_005255614.1:c.-321C>T, XM_017023751.2:c.-474C>T, XM_017023751.1:c.-474C>T, XM_017023752.2:c.-377C>T, XM_017023752.1:c.-377C>T, XM_047434736.1:c.-317C>T

Select item 148933820111.

rs1489338201 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30053064 (GRCh38)
16:30064385 (GRCh37)
Canonical SPDI:: NC_000016.10:30053063:A:G
Gene:: TLCD3B (Varview), LOC112694756 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000016.10:g.30053064A>G, NC_000016.9:g.30064385A>G, NG_008010.1:g.4895A>G

Select item 148916631112.

rs1489166311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30068651 (GRCh38)
16:30079972 (GRCh37)
Canonical SPDI:: NC_000016.10:30068650:C:T
Gene:: ALDOA (Varview), LOC112694756 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30068651C>T, NC_000016.9:g.30079972C>T, NG_008010.1:g.20482C>T, NM_184041.5:c.330C>T, NM_184041.4:c.330C>T, NM_184041.3:c.330C>T, NM_184041.2:c.330C>T, NM_001243177.4:c.492C>T, NM_001243177.3:c.492C>T, NM_001243177.2:c.492C>T, NM_001243177.1:c.492C>T, NM_001127617.2:c.330C>T, NM_184043.2:c.330C>T, NM_000034.3:c.330C>T, NM_001365307.2:c.*839C>T, NM_001365307.1:c.*839C>T, NM_001365305.2:c.*839C>T, NM_001365305.1:c.*839C>T, NM_001365304.2:c.*839C>T, NM_001365304.1:c.*839C>T, NM_001355564.1:c.330C>T, NM_001355562.1:c.330C>T, NM_001243175.1:c.330C>T, NM_001355563.1:c.330C>T, NM_001355565.1:c.330C>T

Select item 148914103713.

rs1489141037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:30052196 (GRCh38)
16:30063517 (GRCh37)
Canonical SPDI:: NC_000016.10:30052195:C:G,NC_000016.10:30052195:C:T
Gene:: TLCD3B (Varview), LOC112694756 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00031/5 (ALFA)
T=0.00014/2 (TOMMO)
T=0.00062/4 (1000Genomes)
T=0.00112/5 (Estonian)
T=0.00684/20 (KOREAN)
HGVS:: NC_000016.10:g.30052196C>G, NC_000016.10:g.30052196C>T, NC_000016.9:g.30063517C>G, NC_000016.9:g.30063517C>T, NG_008010.1:g.4027C>G, NG_008010.1:g.4027C>T

Select item 148911512614.

rs1489115126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:30056944 (GRCh38)
16:30068265 (GRCh37)
Canonical SPDI:: NC_000016.10:30056943:C:G,NC_000016.10:30056943:C:T
Gene:: LOC112694756 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.30056944C>G, NC_000016.10:g.30056944C>T, NC_000016.9:g.30068265C>G, NC_000016.9:g.30068265C>T, NG_008010.1:g.8775C>G, NG_008010.1:g.8775C>T

Select item 148911174615.

rs1489111746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30070043 (GRCh38)
16:30081364 (GRCh37)
Canonical SPDI:: NC_000016.10:30070042:G:T
Gene:: ALDOA (Varview), LOC112694756 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.30070043G>T, NC_000016.9:g.30081364G>T, NG_008010.1:g.21874G>T

Select item 148882897916.

rs1488828979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:30059530 (GRCh38)
16:30070851 (GRCh37)
Canonical SPDI:: NC_000016.10:30059529:C:A
Gene:: LOC112694756 (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_000016.10:g.30059530C>A, NC_000016.9:g.30070851C>A, NG_008010.1:g.11361C>A

Select item 148880788517.

rs1488807885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30053080 (GRCh38)
16:30064401 (GRCh37)
Canonical SPDI:: NC_000016.10:30053079:G:A
Gene:: TLCD3B (Varview), LOC112694756 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30053080G>A, NC_000016.9:g.30064401G>A, NG_008010.1:g.4911G>A

Select item 148859073418.

rs1488590734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:30063347 (GRCh38)
16:30074668 (GRCh37)
Canonical SPDI:: NC_000016.10:30063346:C:G
Gene:: ALDOA (Varview), LOC112694756 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.30063347C>G, NC_000016.9:g.30074668C>G, NG_008010.1:g.15178C>G

Select item 148854247919.

rs1488542479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30061591 (GRCh38)
16:30072912 (GRCh37)
Canonical SPDI:: NC_000016.10:30061590:G:T
Gene:: LOC112694756 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.01144/51 (ALFA)
T=0.00025/7 (TOMMO)
T=0.01052/47 (Estonian)
HGVS:: NC_000016.10:g.30061591G>T, NC_000016.9:g.30072912G>T, NG_008010.1:g.13422G>T

Select item 148839856620.

rs1488398566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30068511 (GRCh38)
16:30079832 (GRCh37)
Canonical SPDI:: NC_000016.10:30068510:G:A
Gene:: ALDOA (Varview), LOC112694756 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30068511G>A, NC_000016.9:g.30079832G>A, NG_008010.1:g.20342G>A

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity