SNP Links for Gene (Select 55308) - SNP

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Select item 14915128601.

rs1491512860 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:70372752 (GRCh38)
16:70406655 (GRCh37)
Canonical SPDI:: NC_000016.10:70372751:CA:
Gene:: DDX19A (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.70372752_70372753del, NC_000016.9:g.70406655_70406656del, NM_018332.5:c.*766_*767del, NM_018332.4:c.*766_*767del, NM_018332.3:c.*766_*767del, NM_001320526.2:c.*766_*767del, NM_001320526.1:c.*766_*767del, NM_001320525.2:c.*766_*767del, NM_001320525.1:c.*766_*767del, NM_001320527.2:c.*766_*767del, NM_001320527.1:c.*766_*767del, NM_001320522.2:c.*766_*767del, NM_001320522.1:c.*766_*767del, NR_135296.2:n.2074_2075del, NR_135296.1:n.2148_2149del

Select item 14914804012.

rs1491480401 has merged into rs1163431591 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 16:70357268 (GRCh38)
16:70391171 (GRCh37)
Canonical SPDI:: NC_000016.10:70357258:AAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:70357258:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:70357258:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:70357258:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:70357258:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:70357258:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:70357258:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.001786/1 (NorthernSweden)
HGVS:: NC_000016.10:g.70357268_70357271del, NC_000016.10:g.70357269_70357271del, NC_000016.10:g.70357270_70357271del, NC_000016.10:g.70357271del, NC_000016.10:g.70357271dup, NC_000016.10:g.70357270_70357271dup, NC_000016.10:g.70357267_70357271dup, NC_000016.9:g.70391171_70391174del, NC_000016.9:g.70391172_70391174del, NC_000016.9:g.70391173_70391174del, NC_000016.9:g.70391174del, NC_000016.9:g.70391174dup, NC_000016.9:g.70391173_70391174dup, NC_000016.9:g.70391170_70391174dup

Select item 14914072183.

rs1491407218 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:70372752 (GRCh38)
16:70406656 (GRCh37)
Canonical SPDI:: NC_000016.10:70372752:A:AA
Gene:: DDX19A (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.70372753dup, NC_000016.9:g.70406656dup, NM_018332.5:c.*767dup, NM_018332.4:c.*767dup, NM_018332.3:c.*767dup, NM_001320526.2:c.*767dup, NM_001320526.1:c.*767dup, NM_001320525.2:c.*767dup, NM_001320525.1:c.*767dup, NM_001320527.2:c.*767dup, NM_001320527.1:c.*767dup, NM_001320522.2:c.*767dup, NM_001320522.1:c.*767dup, NR_135296.2:n.2075dup, NR_135296.1:n.2149dup

Select item 14913891914.

rs1491389191 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:70357258 (GRCh38)
16:70391161 (GRCh37)
Canonical SPDI:: NC_000016.10:70357257:CA:
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.70357258_70357259del, NC_000016.9:g.70391161_70391162del

Select item 14913734595.

rs1491373459 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:70353141 (GRCh38)
16:70387044 (GRCh37)
Canonical SPDI:: NC_000016.10:70353139:TCT:T
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.70353141_70353142del, NC_000016.9:g.70387044_70387045del

Select item 14912466406.

rs1491246640 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 16:70369621 (GRCh38)
16:70403525 (GRCh37)
Canonical SPDI:: NC_000016.10:70369621:T:TCT
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.000008/2 (TOPMED)
TC=0.000017/2 (GnomAD)
HGVS:: NC_000016.10:g.70369622_70369623insCT, NC_000016.9:g.70403525_70403526insCT

Select item 14912085397.

rs1491208539 has merged into rs560443179 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:70369183 (GRCh38)
16:70403086 (GRCh37)
Canonical SPDI:: NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:70369173:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.04792/240 (1000Genomes)
HGVS:: NC_000016.10:g.70369183_70369198del, NC_000016.10:g.70369184_70369198del, NC_000016.10:g.70369185_70369198del, NC_000016.10:g.70369186_70369198del, NC_000016.10:g.70369187_70369198del, NC_000016.10:g.70369188_70369198del, NC_000016.10:g.70369189_70369198del, NC_000016.10:g.70369190_70369198del, NC_000016.10:g.70369191_70369198del, NC_000016.10:g.70369192_70369198del, NC_000016.10:g.70369193_70369198del, NC_000016.10:g.70369195_70369198del, NC_000016.10:g.70369196_70369198del, NC_000016.10:g.70369197_70369198del, NC_000016.10:g.70369198del, NC_000016.10:g.70369198dup, NC_000016.10:g.70369197_70369198dup, NC_000016.10:g.70369196_70369198dup, NC_000016.10:g.70369195_70369198dup, NC_000016.10:g.70369194_70369198dup, NC_000016.10:g.70369193_70369198dup, NC_000016.10:g.70369177_70369198dup, NC_000016.10:g.70369198_70369199insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.70403086_70403101del, NC_000016.9:g.70403087_70403101del, NC_000016.9:g.70403088_70403101del, NC_000016.9:g.70403089_70403101del, NC_000016.9:g.70403090_70403101del, NC_000016.9:g.70403091_70403101del, NC_000016.9:g.70403092_70403101del, NC_000016.9:g.70403093_70403101del, NC_000016.9:g.70403094_70403101del, NC_000016.9:g.70403095_70403101del, NC_000016.9:g.70403096_70403101del, NC_000016.9:g.70403098_70403101del, NC_000016.9:g.70403099_70403101del, NC_000016.9:g.70403100_70403101del, NC_000016.9:g.70403101del, NC_000016.9:g.70403101dup, NC_000016.9:g.70403100_70403101dup, NC_000016.9:g.70403099_70403101dup, NC_000016.9:g.70403098_70403101dup, NC_000016.9:g.70403097_70403101dup, NC_000016.9:g.70403096_70403101dup, NC_000016.9:g.70403080_70403101dup, NC_000016.9:g.70403101_70403102insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911495618.

rs1491149561 [Homo sapiens]

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

Select item 14911036179.

rs1491103617 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:70353140 (GRCh38)
16:70387044 (GRCh37)
Canonical SPDI:: NC_000016.10:70353140:C:CC
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.70353141dup, NC_000016.9:g.70387044dup

Select item 149110157010.

rs1491101570 has merged into rs139116601 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 16:70369632 (GRCh38)
16:70403535 (GRCh37)
Canonical SPDI:: NC_000016.10:70369620:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:70369620:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:70369620:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:70369620:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:70369620:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:70369620:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:70369620:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
TTT=0.000004/1 (TOPMED)
-=0.11262/564 (1000Genomes)
HGVS:: NC_000016.10:g.70369632_70369635del, NC_000016.10:g.70369633_70369635del, NC_000016.10:g.70369634_70369635del, NC_000016.10:g.70369635del, NC_000016.10:g.70369635dup, NC_000016.10:g.70369634_70369635dup, NC_000016.10:g.70369633_70369635dup, NC_000016.9:g.70403535_70403538del, NC_000016.9:g.70403536_70403538del, NC_000016.9:g.70403537_70403538del, NC_000016.9:g.70403538del, NC_000016.9:g.70403538dup, NC_000016.9:g.70403537_70403538dup, NC_000016.9:g.70403536_70403538dup

Select item 149106246811.

rs1491062468 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:70356949 (GRCh38)
16:70390853 (GRCh37)
Canonical SPDI:: NC_000016.10:70356949:C:CC
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000023/3 (GnomAD)
HGVS:: NC_000016.10:g.70356950dup, NC_000016.9:g.70390853dup

Select item 149089814412.

rs1490898144 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 16:70368382 (GRCh38)
16:70402285 (GRCh37)
Canonical SPDI:: NC_000016.10:70368379:CTCCT:CT
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.70368382_70368384del, NC_000016.9:g.70402285_70402287del

Select item 149088516813.

rs1490885168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:70368779 (GRCh38)
16:70402682 (GRCh37)
Canonical SPDI:: NC_000016.10:70368778:T:C
Gene:: DDX19A (Varview)
Functional Consequence:: intron_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_000016.10:g.70368779T>C, NC_000016.9:g.70402682T>C

Select item 149084684514.

rs1490846845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:70355190 (GRCh38)
16:70389093 (GRCh37)
Canonical SPDI:: NC_000016.10:70355189:A:T
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.70355190A>T, NC_000016.9:g.70389093A>T

Select item 149084431715.

rs1490844317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:70346876 (GRCh38)
16:70380779 (GRCh37)
Canonical SPDI:: NC_000016.10:70346875:C:T
Gene:: DDX19A (Varview), DDX19A-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.70346876C>T, NC_000016.9:g.70380779C>T, NM_018332.4:c.-116C>T, NM_001320526.1:c.-692C>T, NM_001320525.1:c.-447C>T, NM_001320527.1:c.-663C>T, NM_001320522.1:c.-116C>T, NR_135296.1:n.48C>T

Select item 149077109616.

rs1490771096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:70349540 (GRCh38)
16:70383443 (GRCh37)
Canonical SPDI:: NC_000016.10:70349539:G:C
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.70349540G>C, NC_000016.9:g.70383443G>C

Select item 149067250617.

rs1490672506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:70362341 (GRCh38)
16:70396244 (GRCh37)
Canonical SPDI:: NC_000016.10:70362340:A:C
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000024/3 (GnomAD)
HGVS:: NC_000016.10:g.70362341A>C, NC_000016.9:g.70396244A>C

Select item 149033594518.

rs1490335945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:70365479 (GRCh38)
16:70399382 (GRCh37)
Canonical SPDI:: NC_000016.10:70365478:A:C
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.70365479A>C, NC_000016.9:g.70399382A>C

Select item 149032340419.

rs1490323404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:70363242 (GRCh38)
16:70397145 (GRCh37)
Canonical SPDI:: NC_000016.10:70363241:C:T
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.70363242C>T, NC_000016.9:g.70397145C>T

Select item 149014027920.

rs1490140279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:70369173 (GRCh38)
16:70403076 (GRCh37)
Canonical SPDI:: NC_000016.10:70369172:G:T
Gene:: DDX19A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00034/4 (ALFA)
T=0.00019/17 (GnomAD)
T=0.00377/11 (KOREAN)
HGVS:: NC_000016.10:g.70369173G>T, NC_000016.9:g.70403076G>T

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