SNP Links for Gene (Select 160851) - SNP

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Select item 14915814181.

rs1491581418 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTCTTT [Show Flanks]
Chromosome:: 13:42206972 (GRCh38)
13:42781109 (GRCh37)
Canonical SPDI:: NC_000013.11:42206972:CTTTTTCTTT:CTTTTTCTTTTTCTTT
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTTTTCTTTTTCTTT=0.0008/13 (ALFA)
CTTTTT=0.00011/2 (TOMMO)
CTTTTT=0.00147/80 (GnomAD)
HGVS:: NC_000013.11:g.42206977_42206982dup, NC_000013.10:g.42781113_42781118dup, NG_029191.3:g.171942_171947dup

Select item 14915692772.

rs1491569277 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:42170942 (GRCh38)
13:42745078 (GRCh37)
Canonical SPDI:: NC_000013.11:42170941:CA:
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00016/5 (GnomAD)
HGVS:: NC_000013.11:g.42170942_42170943del, NC_000013.10:g.42745078_42745079del, NG_029191.3:g.135907_135908del

Select item 14915672553.

rs1491567255 has merged into rs71096565 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:42247238 (GRCh38)
13:42821374 (GRCh37)
Canonical SPDI:: NC_000013.11:42247229:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000013.11:42247229:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:42247229:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:42247229:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:42247229:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:42247229:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:42247229:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:42247229:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:42247229:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:42247229:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:42247229:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DGKH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000013.11:g.42247238_42247249del, NC_000013.11:g.42247243_42247249del, NC_000013.11:g.42247246_42247249del, NC_000013.11:g.42247247_42247249del, NC_000013.11:g.42247248_42247249del, NC_000013.11:g.42247249del, NC_000013.11:g.42247249dup, NC_000013.11:g.42247248_42247249dup, NC_000013.11:g.42247246_42247249dup, NC_000013.11:g.42247232_42247249dup, NC_000013.11:g.42247249_42247250insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.42821374_42821385del, NC_000013.10:g.42821379_42821385del, NC_000013.10:g.42821382_42821385del, NC_000013.10:g.42821383_42821385del, NC_000013.10:g.42821384_42821385del, NC_000013.10:g.42821385del, NC_000013.10:g.42821385dup, NC_000013.10:g.42821384_42821385dup, NC_000013.10:g.42821382_42821385dup, NC_000013.10:g.42821368_42821385dup, NC_000013.10:g.42821385_42821386insTTTTTTTTTTTTTTTTTTTTTTTT, NG_029191.3:g.212203_212214del, NG_029191.3:g.212208_212214del, NG_029191.3:g.212211_212214del, NG_029191.3:g.212212_212214del, NG_029191.3:g.212213_212214del, NG_029191.3:g.212214del, NG_029191.3:g.212214dup, NG_029191.3:g.212213_212214dup, NG_029191.3:g.212211_212214dup, NG_029191.3:g.212197_212214dup, NG_029191.3:g.212214_212215insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915229854.

rs1491522985 has merged into rs66713217 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 13:42184895 (GRCh38)
13:42759031 (GRCh37)
Canonical SPDI:: NC_000013.11:42184888:AAAAAAAAA:AAAAAA,NC_000013.11:42184888:AAAAAAAAA:AAAAAAA,NC_000013.11:42184888:AAAAAAAAA:AAAAAAAA,NC_000013.11:42184888:AAAAAAAAA:AAAAAAAAAA
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.0348/134 (ALSPAC)
-=0.25/10 (GENOME_DK)
-=0.3763/222 (NorthernSweden)
A=0.4962/2485 (1000Genomes)
HGVS:: NC_000013.11:g.42184895_42184897del, NC_000013.11:g.42184896_42184897del, NC_000013.11:g.42184897del, NC_000013.11:g.42184897dup, NC_000013.10:g.42759031_42759033del, NC_000013.10:g.42759032_42759033del, NC_000013.10:g.42759033del, NC_000013.10:g.42759033dup, NG_029191.3:g.149860_149862del, NG_029191.3:g.149861_149862del, NG_029191.3:g.149862del, NG_029191.3:g.149862dup

Select item 14915068675.

rs1491506867 has merged into rs1204951678 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTATCT,CTCT,CTCTCT [Show Flanks]
Chromosome:: 13:42206983 (GRCh38)
13:42781119 (GRCh37)
Canonical SPDI:: NC_000013.11:42206981:TCT:T,NC_000013.11:42206981:TCT:TCTATCT,NC_000013.11:42206981:TCT:TCTCT,NC_000013.11:42206981:TCT:TCTCTCT
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
-=0.0033/2 (NorthernSweden)
TCTC=0.0082/15 (Korea1K)
TCTA=0.0475/176 (TWINSUK)
TCTA=0.0537/207 (ALSPAC)
HGVS:: NC_000013.11:g.42206983_42206984del, NC_000013.11:g.42206984_42206985insATCT, NC_000013.11:g.42206983_42206984dup, NC_000013.11:g.42206983CT[3], NC_000013.10:g.42781119_42781120del, NC_000013.10:g.42781120_42781121insATCT, NC_000013.10:g.42781119_42781120dup, NC_000013.10:g.42781119CT[3], NG_029191.3:g.171948_171949del, NG_029191.3:g.171949_171950insATCT, NG_029191.3:g.171948_171949dup, NG_029191.3:g.171948CT[3]

Select item 14915038446.

rs1491503844 has merged into rs71703387 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:42197264 (GRCh38)
13:42771400 (GRCh37)
Canonical SPDI:: NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:42197252:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.42197264_42197270del, NC_000013.11:g.42197266_42197270del, NC_000013.11:g.42197268_42197270del, NC_000013.11:g.42197269_42197270del, NC_000013.11:g.42197270del, NC_000013.11:g.42197270dup, NC_000013.11:g.42197269_42197270dup, NC_000013.11:g.42197268_42197270dup, NC_000013.11:g.42197267_42197270dup, NC_000013.11:g.42197266_42197270dup, NC_000013.11:g.42197265_42197270dup, NC_000013.11:g.42197264_42197270dup, NC_000013.11:g.42197261_42197270dup, NC_000013.10:g.42771400_42771406del, NC_000013.10:g.42771402_42771406del, NC_000013.10:g.42771404_42771406del, NC_000013.10:g.42771405_42771406del, NC_000013.10:g.42771406del, NC_000013.10:g.42771406dup, NC_000013.10:g.42771405_42771406dup, NC_000013.10:g.42771404_42771406dup, NC_000013.10:g.42771403_42771406dup, NC_000013.10:g.42771402_42771406dup, NC_000013.10:g.42771401_42771406dup, NC_000013.10:g.42771400_42771406dup, NC_000013.10:g.42771397_42771406dup, NG_029191.3:g.162229_162235del, NG_029191.3:g.162231_162235del, NG_029191.3:g.162233_162235del, NG_029191.3:g.162234_162235del, NG_029191.3:g.162235del, NG_029191.3:g.162235dup, NG_029191.3:g.162234_162235dup, NG_029191.3:g.162233_162235dup, NG_029191.3:g.162232_162235dup, NG_029191.3:g.162231_162235dup, NG_029191.3:g.162230_162235dup, NG_029191.3:g.162229_162235dup, NG_029191.3:g.162226_162235dup

Select item 14914920447.

rs1491492044 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 13:42207019 (GRCh38)
13:42781155 (GRCh37)
Canonical SPDI:: NC_000013.11:42207017:TCT:T,NC_000013.11:42207017:TCT:TCTCT
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
-=0.00006/1 (TOMMO)
-=0.000195/26 (GnomAD)
HGVS:: NC_000013.11:g.42207019_42207020del, NC_000013.11:g.42207019_42207020dup, NC_000013.10:g.42781155_42781156del, NC_000013.10:g.42781155_42781156dup, NG_029191.3:g.171984_171985del, NG_029191.3:g.171984_171985dup

Select item 14914850238.

rs1491485023 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:42146150 (GRCh38)
13:42720286 (GRCh37)
Canonical SPDI:: NC_000013.11:42146149:CT:
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.42146150_42146151del, NC_000013.10:g.42720286_42720287del, NG_029191.3:g.111115_111116del

Select item 14914653959.

rs1491465395 has merged into rs66598234 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT [Show Flanks]
Chromosome:: 13:42207693 (GRCh38)
13:42781829 (GRCh37)
Canonical SPDI:: NC_000013.11:42207690:GTGTGT:GT,NC_000013.11:42207690:GTGTGT:GTGT
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGT=0.09937/1612 (ALFA)
-=0.01713/66 (ALSPAC)
-=0.07895/3 (GENOME_DK)
-=0.12333/74 (NorthernSweden)
-=0.18645/1194 (1000Genomes)
-=0.42646/7107 (TOMMO)
-=0.45029/14620 (GnomAD)
-=0.45203/801 (Korea1K)
HGVS:: NC_000013.11:g.42207691GT[1], NC_000013.11:g.42207691GT[2], NC_000013.10:g.42781827GT[1], NC_000013.10:g.42781827GT[2], NG_029191.3:g.172656GT[1], NG_029191.3:g.172656GT[2]

Select item 149145221510.

rs1491452215 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACACA [Show Flanks]
Chromosome:: 13:42151614 (GRCh38)
13:42725751 (GRCh37)
Canonical SPDI:: NC_000013.11:42151614::A,NC_000013.11:42151614::ACACA
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00007/2 (TOMMO)
HGVS:: NC_000013.11:g.42151614_42151615insA, NC_000013.11:g.42151614_42151615insACACA, NC_000013.10:g.42725750_42725751insA, NC_000013.10:g.42725750_42725751insACACA, NG_029191.3:g.116579_116580insA, NG_029191.3:g.116579_116580insACACA

Select item 149144039511.

rs1491440395 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 13:42151477 (GRCh38)
13:42725613 (GRCh37)
Canonical SPDI:: NC_000013.11:42151476:TG:
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.42151477_42151478del, NC_000013.10:g.42725613_42725614del, NG_029191.3:g.116442_116443del

Select item 149143953512.

rs1491439535 has merged into rs34351817 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:42206023 (GRCh38)
13:42780159 (GRCh37)
Canonical SPDI:: NC_000013.11:42206012:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:42206012:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:42206012:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:42206012:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:42206012:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:42206012:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:42206012:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:42206012:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:42206012:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:42206012:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4627/2317 (1000Genomes)
HGVS:: NC_000013.11:g.42206023_42206029del, NC_000013.11:g.42206025_42206029del, NC_000013.11:g.42206026_42206029del, NC_000013.11:g.42206027_42206029del, NC_000013.11:g.42206028_42206029del, NC_000013.11:g.42206029del, NC_000013.11:g.42206029dup, NC_000013.11:g.42206028_42206029dup, NC_000013.11:g.42206027_42206029dup, NC_000013.11:g.42206029_42206030insTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.42780159_42780165del, NC_000013.10:g.42780161_42780165del, NC_000013.10:g.42780162_42780165del, NC_000013.10:g.42780163_42780165del, NC_000013.10:g.42780164_42780165del, NC_000013.10:g.42780165del, NC_000013.10:g.42780165dup, NC_000013.10:g.42780164_42780165dup, NC_000013.10:g.42780163_42780165dup, NC_000013.10:g.42780165_42780166insTTTTTTTTTTTTTTTTTTT, NG_029191.3:g.170988_170994del, NG_029191.3:g.170990_170994del, NG_029191.3:g.170991_170994del, NG_029191.3:g.170992_170994del, NG_029191.3:g.170993_170994del, NG_029191.3:g.170994del, NG_029191.3:g.170994dup, NG_029191.3:g.170993_170994dup, NG_029191.3:g.170992_170994dup, NG_029191.3:g.170994_170995insTTTTTTTTTTTTTTTTTTT

Select item 149142781313.

rs1491427813 has merged into rs377628213 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 13:42121080 (GRCh38)
13:42695216 (GRCh37)
Canonical SPDI:: NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:42121066:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000013.11:g.42121068CA[6], NC_000013.11:g.42121068CA[7], NC_000013.11:g.42121068CA[9], NC_000013.11:g.42121068CA[10], NC_000013.11:g.42121068CA[11], NC_000013.11:g.42121068CA[13], NC_000013.11:g.42121068CA[14], NC_000013.11:g.42121068CA[15], NC_000013.11:g.42121068CA[16], NC_000013.11:g.42121068CA[17], NC_000013.11:g.42121068CA[18], NC_000013.11:g.42121068CA[19], NC_000013.11:g.42121068CA[20], NC_000013.11:g.42121068CA[21], NC_000013.11:g.42121068CA[22], NC_000013.11:g.42121068CA[23], NC_000013.11:g.42121068CA[24], NC_000013.11:g.42121068CA[25], NC_000013.11:g.42121068CA[26], NC_000013.10:g.42695204CA[6], NC_000013.10:g.42695204CA[7], NC_000013.10:g.42695204CA[9], NC_000013.10:g.42695204CA[10], NC_000013.10:g.42695204CA[11], NC_000013.10:g.42695204CA[13], NC_000013.10:g.42695204CA[14], NC_000013.10:g.42695204CA[15], NC_000013.10:g.42695204CA[16], NC_000013.10:g.42695204CA[17], NC_000013.10:g.42695204CA[18], NC_000013.10:g.42695204CA[19], NC_000013.10:g.42695204CA[20], NC_000013.10:g.42695204CA[21], NC_000013.10:g.42695204CA[22], NC_000013.10:g.42695204CA[23], NC_000013.10:g.42695204CA[24], NC_000013.10:g.42695204CA[25], NC_000013.10:g.42695204CA[26], NG_029191.3:g.86033CA[6], NG_029191.3:g.86033CA[7], NG_029191.3:g.86033CA[9], NG_029191.3:g.86033CA[10], NG_029191.3:g.86033CA[11], NG_029191.3:g.86033CA[13], NG_029191.3:g.86033CA[14], NG_029191.3:g.86033CA[15], NG_029191.3:g.86033CA[16], NG_029191.3:g.86033CA[17], NG_029191.3:g.86033CA[18], NG_029191.3:g.86033CA[19], NG_029191.3:g.86033CA[20], NG_029191.3:g.86033CA[21], NG_029191.3:g.86033CA[22], NG_029191.3:g.86033CA[23], NG_029191.3:g.86033CA[24], NG_029191.3:g.86033CA[25], NG_029191.3:g.86033CA[26]

Select item 149140895514.

rs1491408955 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATACATACACATATACATTTATATGTGTATATATA>-,CATACATACACATATACATTTATATGTGTATATATACATACATACACATATACATTTATATGTGTATATATA [Show Flanks]
Chromosome:: 13:42230695 (GRCh38)
13:42804831 (GRCh37)
Canonical SPDI:: NC_000013.11:42230678:TATATGTGTATATATACATACATACACATATACATTTATATGTGTATATATA:TATATGTGTATATATA,NC_000013.11:42230678:TATATGTGTATATATACATACATACACATATACATTTATATGTGTATATATA:TATATGTGTATATATACATACATACACATATACATTTATATGTGTATATATACATACATACACATATACATTTATATGTGTATATATA
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATGTGTATATATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TATATGTGTATATATACATACATACACATATACATT=0.000035/1 (TOMMO)
TATATGTGTATATATACATACATACACATATACATT=0.000156/1 (1000Genomes)
TATATGTGTATATATACATACATACACATATACATT=0.000164/23 (GnomAD)
HGVS:: NC_000013.11:g.42230695_42230730del, NC_000013.11:g.42230695_42230730dup, NC_000013.10:g.42804831_42804866del, NC_000013.10:g.42804831_42804866dup, NG_029191.3:g.195660_195695del, NG_029191.3:g.195660_195695dup, NM_152910.6:c.*1544_*1579del, NM_152910.6:c.*1544_*1579dup, NM_152910.5:c.*1544_*1579del, NM_152910.5:c.*1544_*1579dup, NM_178009.5:c.*1507_*1542del, NM_178009.5:c.*1507_*1542dup, NM_178009.4:c.*1507_*1542del, NM_178009.4:c.*1507_*1542dup, NM_001204504.3:c.*1544_*1579del, NM_001204504.3:c.*1544_*1579dup, NM_001204504.2:c.*1544_*1579del, NM_001204504.2:c.*1544_*1579dup, NM_001204505.3:c.*1507_*1542del, NM_001204505.3:c.*1507_*1542dup, NM_001204505.2:c.*1507_*1542del, NM_001204505.2:c.*1507_*1542dup, NM_001204506.3:c.*1507_*1542del, NM_001204506.3:c.*1507_*1542dup, NM_001204506.2:c.*1507_*1542del, NM_001204506.2:c.*1507_*1542dup, NR_123714.2:n.4980_5015del, NR_123714.2:n.4980_5015dup, NR_123714.1:n.4996_5031del, NR_123714.1:n.4996_5031dup, NM_001297429.2:c.*1544_*1579del, NM_001297429.2:c.*1544_*1579dup, NM_001297429.1:c.*1544_*1579del, NM_001297429.1:c.*1544_*1579dup

Select item 149140887415.

rs1491408874 has merged into rs140696226 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC [Show Flanks]
Chromosome:: 13:42151616 (GRCh38)
13:42725752 (GRCh37)
Canonical SPDI:: NC_000013.11:42151613:CCCC:CC,NC_000013.11:42151613:CCCC:CCCCCC,NC_000013.11:42151613:CCCC:CCCCCCC,NC_000013.11:42151613:CCCC:CCCCCCCC,NC_000013.11:42151613:CCCC:CCCCCCCCC,NC_000013.11:42151613:CCCC:CCCCCCCCCCC,NC_000013.11:42151613:CCCC:CCCCCCCCCCCC,NC_000013.11:42151613:CCCC:CCCCCCCCCCCCC
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
CCCCC=0.000004/1 (TOPMED)
-=0.401695/237 (NorthernSweden)
HGVS:: NC_000013.11:g.42151616_42151617del, NC_000013.11:g.42151616_42151617dup, NC_000013.11:g.42151615_42151617dup, NC_000013.11:g.42151614_42151617dup, NC_000013.11:g.42151617_42151618insCCCCC, NC_000013.11:g.42151617_42151618insCCCCCCC, NC_000013.11:g.42151617_42151618insCCCCCCCC, NC_000013.11:g.42151617_42151618insCCCCCCCCC, NC_000013.10:g.42725752_42725753del, NC_000013.10:g.42725752_42725753dup, NC_000013.10:g.42725751_42725753dup, NC_000013.10:g.42725750_42725753dup, NC_000013.10:g.42725753_42725754insCCCCC, NC_000013.10:g.42725753_42725754insCCCCCCC, NC_000013.10:g.42725753_42725754insCCCCCCCC, NC_000013.10:g.42725753_42725754insCCCCCCCCC, NG_029191.3:g.116581_116582del, NG_029191.3:g.116581_116582dup, NG_029191.3:g.116580_116582dup, NG_029191.3:g.116579_116582dup, NG_029191.3:g.116582_116583insCCCCC, NG_029191.3:g.116582_116583insCCCCCCC, NG_029191.3:g.116582_116583insCCCCCCCC, NG_029191.3:g.116582_116583insCCCCCCCCC

Select item 149136717316.

rs1491367173 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:42088623 (GRCh38)
13:42662759 (GRCh37)
Canonical SPDI:: NC_000013.11:42088622:TA:
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.42088623_42088624del, NC_000013.10:g.42662759_42662760del, NG_029191.3:g.53588_53589del

Select item 149136603317.

rs1491366033 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:42237400 (GRCh38)
13:42811536 (GRCh37)
Canonical SPDI:: NC_000013.11:42237399:GA:
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000018/2 (GnomAD)
HGVS:: NC_000013.11:g.42237400_42237401del, NC_000013.10:g.42811536_42811537del, NG_029191.3:g.202365_202366del, NM_152910.6:c.*8249_*8250del, NM_152910.5:c.*8249_*8250del, NM_178009.5:c.*8212_*8213del, NM_178009.4:c.*8212_*8213del, NM_001204504.3:c.*8249_*8250del, NM_001204504.2:c.*8249_*8250del, NM_001204505.3:c.*8212_*8213del, NM_001204505.2:c.*8212_*8213del, NM_001204506.3:c.*8212_*8213del, NM_001204506.2:c.*8212_*8213del, NR_123714.2:n.11685_11686del, NR_123714.1:n.11701_11702del, NM_001297429.2:c.*8249_*8250del, NM_001297429.1:c.*8249_*8250del

Select item 149136050218.

rs1491360502 has merged into rs5803114 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 13:42170953 (GRCh38)
13:42745089 (GRCh37)
Canonical SPDI:: NC_000013.11:42170942:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:42170942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:42170942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:42170942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:42170942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:42170942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:42170942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:42170942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:42170942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:42170942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:42170942:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.2706/1355 (1000Genomes)
HGVS:: NC_000013.11:g.42170953_42170959del, NC_000013.11:g.42170954_42170959del, NC_000013.11:g.42170955_42170959del, NC_000013.11:g.42170956_42170959del, NC_000013.11:g.42170957_42170959del, NC_000013.11:g.42170958_42170959del, NC_000013.11:g.42170959del, NC_000013.11:g.42170959dup, NC_000013.11:g.42170958_42170959dup, NC_000013.11:g.42170957_42170959dup, NC_000013.11:g.42170956_42170959dup, NC_000013.10:g.42745089_42745095del, NC_000013.10:g.42745090_42745095del, NC_000013.10:g.42745091_42745095del, NC_000013.10:g.42745092_42745095del, NC_000013.10:g.42745093_42745095del, NC_000013.10:g.42745094_42745095del, NC_000013.10:g.42745095del, NC_000013.10:g.42745095dup, NC_000013.10:g.42745094_42745095dup, NC_000013.10:g.42745093_42745095dup, NC_000013.10:g.42745092_42745095dup, NG_029191.3:g.135918_135924del, NG_029191.3:g.135919_135924del, NG_029191.3:g.135920_135924del, NG_029191.3:g.135921_135924del, NG_029191.3:g.135922_135924del, NG_029191.3:g.135923_135924del, NG_029191.3:g.135924del, NG_029191.3:g.135924dup, NG_029191.3:g.135923_135924dup, NG_029191.3:g.135922_135924dup, NG_029191.3:g.135921_135924dup

Select item 149135012719.

rs1491350127 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 13:42078908 (GRCh38)
13:42653044 (GRCh37)
Canonical SPDI:: NC_000013.11:42078907:CC:
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.42078908_42078909del, NC_000013.10:g.42653044_42653045del, NG_029191.3:g.43873_43874del

Select item 149133975220.

rs1491339752 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA [Show Flanks]
Chromosome:: 13:42151516 (GRCh38)
13:42725653 (GRCh37)
Canonical SPDI:: NC_000013.11:42151516::GA
Gene:: DGKH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GA=0.00018/5 (TOMMO)
HGVS:: NC_000013.11:g.42151516_42151517insGA, NC_000013.10:g.42725652_42725653insGA, NG_029191.3:g.116481_116482insGA

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