SNP Links for Gene (Select 26512) - SNP

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Select item 14915586441.

rs1491558644 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:51399706 (GRCh38)
13:51973843 (GRCh37)
Canonical SPDI:: NC_000013.11:51399706::T
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000065/9 (GnomAD)
T=0.000781/5 (1000Genomes)
T=0.004367/8 (Korea1K)
T=0.00545/91 (TOMMO)
HGVS:: NC_000013.11:g.51399706_51399707insT, NC_000013.10:g.51973842_51973843insT

Select item 14915270562.

rs1491527056 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 13:51375775 (GRCh38)
13:51949912 (GRCh37)
Canonical SPDI:: NC_000013.11:51375775::CA
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.000169/2 (ALFA)
CA=0.001385/194 (GnomAD)
HGVS:: NC_000013.11:g.51375775_51375776insCA, NC_000013.10:g.51949911_51949912insCA

Select item 14915015043.

rs1491501504 has merged into rs149255221 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:51365398 (GRCh38)
13:51939534 (GRCh37)
Canonical SPDI:: NC_000013.11:51365391:TTTTTTTTTT:TTTTTT,NC_000013.11:51365391:TTTTTTTTTT:TTTTTTT,NC_000013.11:51365391:TTTTTTTTTT:TTTTTTTTT,NC_000013.11:51365391:TTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:51365391:TTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:51365391:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: INTS6 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.2223/948 (1000Genomes)
HGVS:: NC_000013.11:g.51365398_51365401del, NC_000013.11:g.51365399_51365401del, NC_000013.11:g.51365401del, NC_000013.11:g.51365401dup, NC_000013.11:g.51365400_51365401dup, NC_000013.11:g.51365401_51365402insTTTTTTTTTTT, NC_000013.10:g.51939534_51939537del, NC_000013.10:g.51939535_51939537del, NC_000013.10:g.51939537del, NC_000013.10:g.51939537dup, NC_000013.10:g.51939536_51939537dup, NC_000013.10:g.51939537_51939538insTTTTTTTTTTT, NM_012141.3:c.*357_*360del, NM_012141.3:c.*358_*360del, NM_012141.3:c.*360del, NM_012141.3:c.*360dup, NM_012141.3:c.*359_*360dup, NM_012141.3:c.*360_*361insAAAAAAAAAAA, NM_012141.2:c.*357_*360del, NM_012141.2:c.*358_*360del, NM_012141.2:c.*360del, NM_012141.2:c.*360dup, NM_012141.2:c.*359_*360dup, NM_012141.2:c.*360_*361insAAAAAAAAAAA, NM_001306091.2:c.*357_*360del, NM_001306091.2:c.*358_*360del, NM_001306091.2:c.*360del, NM_001306091.2:c.*360dup, NM_001306091.2:c.*359_*360dup, NM_001306091.2:c.*360_*361insAAAAAAAAAAA, NM_001306091.1:c.*357_*360del, NM_001306091.1:c.*358_*360del, NM_001306091.1:c.*360del, NM_001306091.1:c.*360dup, NM_001306091.1:c.*359_*360dup, NM_001306091.1:c.*360_*361insAAAAAAAAAAA, NM_001039937.2:c.*357_*360del, NM_001039937.2:c.*358_*360del, NM_001039937.2:c.*360del, NM_001039937.2:c.*360dup, NM_001039937.2:c.*359_*360dup, NM_001039937.2:c.*360_*361insAAAAAAAAAAA, NM_001039937.1:c.*357_*360del, NM_001039937.1:c.*358_*360del, NM_001039937.1:c.*360del, NM_001039937.1:c.*360dup, NM_001039937.1:c.*359_*360dup, NM_001039937.1:c.*360_*361insAAAAAAAAAAA, XM_047430264.1:c.*357_*360del, XM_047430264.1:c.*358_*360del, XM_047430264.1:c.*360del, XM_047430264.1:c.*360dup, XM_047430264.1:c.*359_*360dup, XM_047430264.1:c.*360_*361insAAAAAAAAAAA, XM_047430265.1:c.*357_*360del, XM_047430265.1:c.*358_*360del, XM_047430265.1:c.*360del, XM_047430265.1:c.*360dup, XM_047430265.1:c.*359_*360dup, XM_047430265.1:c.*360_*361insAAAAAAAAAAA

Select item 14914953854.

rs1491495385 has merged into rs1376843150 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 13:51375776 (GRCh38)
13:51949912 (GRCh37)
Canonical SPDI:: NC_000013.11:51375774:GTG:G,NC_000013.11:51375774:GTG:GTGTG
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0./0 (ALFA)
HGVS:: NC_000013.11:g.51375776_51375777del, NC_000013.11:g.51375776_51375777dup, NC_000013.10:g.51949912_51949913del, NC_000013.10:g.51949912_51949913dup

Select item 14914872055.

rs1491487205 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:51447757 (GRCh38)
13:52021894 (GRCh37)
Canonical SPDI:: NC_000013.11:51447757:G:GG
Gene:: INTS6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000013.11:g.51447758dup, NC_000013.10:g.52021894dup, NM_001039938.2:c.*3258dup

Select item 14914173406.

rs1491417340 has merged into rs1555283864 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCGCGCG>-,CG,CGCG,CGCGCG,CGCGCGCGCG,CGCGCGCGCGCG [Show Flanks]
Chromosome:: 13:51375768 (GRCh38)
13:51949904 (GRCh37)
Canonical SPDI:: NC_000013.11:51375766:GCGCGCGCG:G,NC_000013.11:51375766:GCGCGCGCG:GCG,NC_000013.11:51375766:GCGCGCGCG:GCGCG,NC_000013.11:51375766:GCGCGCGCG:GCGCGCG,NC_000013.11:51375766:GCGCGCGCG:GCGCGCGCGCG,NC_000013.11:51375766:GCGCGCGCG:GCGCGCGCGCGCG
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
GC=0.00167/1 (NorthernSweden)
GC=0.03275/60 (Korea1K)
HGVS:: NC_000013.11:g.51375768_51375775del, NC_000013.11:g.51375768CG[1], NC_000013.11:g.51375768CG[2], NC_000013.11:g.51375768CG[3], NC_000013.11:g.51375768CG[5], NC_000013.11:g.51375768CG[6], NC_000013.10:g.51949904_51949911del, NC_000013.10:g.51949904CG[1], NC_000013.10:g.51949904CG[2], NC_000013.10:g.51949904CG[3], NC_000013.10:g.51949904CG[5], NC_000013.10:g.51949904CG[6]

Select item 14913892207.

rs1491389220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACAAA,CACACACACACACACACACACACAGA,CACACACACACACACACACACAGA,CACACACACACACACACACAGA,CACACACACACACACACAGA,CACACACACACACACAGA,CACACACACACACACAGAGA,CACACACACACACAGA,CACACACACACACAGAGA,CACACACACACACAGAGAGA,CACACACACACAGA,CACACACACACAGAGA,CACACACACACAGAGAGA,CACACACACACAGAGAGAGAGA,CACACACACAGA,CACACACACAGAGA,CACACACACAGAGAGA,CACACACAGA,CACACACAGAGA,CACACACAGAGAGA,CACACACAGAGAGAGA,CACACAGA,CACACAGAGA,CACACAGAGAGA,CACACAGAGAGAGA,CACAGA,CACAGAGA,CACAGAGAGA,CACAGAGAGAGA,CACAGAGAGAGAGA,CAGA,CAGAGA,CAGAGAGA,CAGAGAGAGA [Show Flanks]
Chromosome:: 13:51404103 (GRCh38)
13:51978240 (GRCh37)
Canonical SPDI:: NC_000013.11:51404103:A:ACACAAA,NC_000013.11:51404103:A:ACACACACACACACACACACACACAGA,NC_000013.11:51404103:A:ACACACACACACACACACACACAGA,NC_000013.11:51404103:A:ACACACACACACACACACACAGA,NC_000013.11:51404103:A:ACACACACACACACACACAGA,NC_000013.11:51404103:A:ACACACACACACACACAGA,NC_000013.11:51404103:A:ACACACACACACACACAGAGA,NC_000013.11:51404103:A:ACACACACACACACAGA,NC_000013.11:51404103:A:ACACACACACACACAGAGA,NC_000013.11:51404103:A:ACACACACACACACAGAGAGA,NC_000013.11:51404103:A:ACACACACACACAGA,NC_000013.11:51404103:A:ACACACACACACAGAGA,NC_000013.11:51404103:A:ACACACACACACAGAGAGA,NC_000013.11:51404103:A:ACACACACACACAGAGAGAGAGA,NC_000013.11:51404103:A:ACACACACACAGA,NC_000013.11:51404103:A:ACACACACACAGAGA,NC_000013.11:51404103:A:ACACACACACAGAGAGA,NC_000013.11:51404103:A:ACACACACAGA,NC_000013.11:51404103:A:ACACACACAGAGA,NC_000013.11:51404103:A:ACACACACAGAGAGA,NC_000013.11:51404103:A:ACACACACAGAGAGAGA,NC_000013.11:51404103:A:ACACACAGA,NC_000013.11:51404103:A:ACACACAGAGA,NC_000013.11:51404103:A:ACACACAGAGAGA,NC_000013.11:51404103:A:ACACACAGAGAGAGA,NC_000013.11:51404103:A:ACACAGA,NC_000013.11:51404103:A:ACACAGAGA,NC_000013.11:51404103:A:ACACAGAGAGA,NC_000013.11:51404103:A:ACACAGAGAGAGA,NC_000013.11:51404103:A:ACACAGAGAGAGAGA,NC_000013.11:51404103:A:ACAGA,NC_000013.11:51404103:A:ACAGAGA,NC_000013.11:51404103:A:ACAGAGAGA,NC_000013.11:51404103:A:ACAGAGAGAGA
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACAGA=0./0 (ALFA)
HGVS:: NC_000013.11:g.51404104AC[2]AAA[1], NC_000013.11:g.51404104AC[12]AGA[1], NC_000013.11:g.51404104AC[11]AGA[1], NC_000013.11:g.51404104AC[10]AGA[1], NC_000013.11:g.51404104AC[9]AGA[1], NC_000013.11:g.51404104AC[8]AGA[1], NC_000013.11:g.51404104AC[8]AG[2]A[1], NC_000013.11:g.51404104AC[7]AGA[1], NC_000013.11:g.51404104AC[7]AG[2]A[1], NC_000013.11:g.51404104AC[7]AG[3]A[1], NC_000013.11:g.51404104AC[6]AGA[1], NC_000013.11:g.51404104AC[6]AG[2]A[1], NC_000013.11:g.51404104AC[6]AG[3]A[1], NC_000013.11:g.51404104AC[6]AG[5]A[1], NC_000013.11:g.51404104AC[5]AGA[1], NC_000013.11:g.51404104AC[5]AG[2]A[1], NC_000013.11:g.51404104AC[5]AG[3]A[1], NC_000013.11:g.51404104AC[4]AGA[1], NC_000013.11:g.51404104AC[4]AG[2]A[1], NC_000013.11:g.51404104AC[4]AG[3]A[1], NC_000013.11:g.51404104AC[4]AG[4]A[1], NC_000013.11:g.51404104AC[3]AGA[1], NC_000013.11:g.51404104AC[3]AG[2]A[1], NC_000013.11:g.51404104AC[3]AG[3]A[1], NC_000013.11:g.51404104AC[3]AG[4]A[1], NC_000013.11:g.51404104AC[2]AGA[1], NC_000013.11:g.51404104AC[2]AG[2]A[1], NC_000013.11:g.51404104AC[2]AG[3]A[1], NC_000013.11:g.51404104AC[2]AG[4]A[1], NC_000013.11:g.51404104AC[2]AG[5]A[1], NC_000013.11:g.51404104_51404105insCAGA, NC_000013.11:g.51404104_51404105insCAGAGA, NC_000013.11:g.51404104_51404105insCAGAGAGA, NC_000013.11:g.51404104_51404105insCAGAGAGAGA, NC_000013.10:g.51978240AC[2]AAA[1], NC_000013.10:g.51978240AC[12]AGA[1], NC_000013.10:g.51978240AC[11]AGA[1], NC_000013.10:g.51978240AC[10]AGA[1], NC_000013.10:g.51978240AC[9]AGA[1], NC_000013.10:g.51978240AC[8]AGA[1], NC_000013.10:g.51978240AC[8]AG[2]A[1], NC_000013.10:g.51978240AC[7]AGA[1], NC_000013.10:g.51978240AC[7]AG[2]A[1], NC_000013.10:g.51978240AC[7]AG[3]A[1], NC_000013.10:g.51978240AC[6]AGA[1], NC_000013.10:g.51978240AC[6]AG[2]A[1], NC_000013.10:g.51978240AC[6]AG[3]A[1], NC_000013.10:g.51978240AC[6]AG[5]A[1], NC_000013.10:g.51978240AC[5]AGA[1], NC_000013.10:g.51978240AC[5]AG[2]A[1], NC_000013.10:g.51978240AC[5]AG[3]A[1], NC_000013.10:g.51978240AC[4]AGA[1], NC_000013.10:g.51978240AC[4]AG[2]A[1], NC_000013.10:g.51978240AC[4]AG[3]A[1], NC_000013.10:g.51978240AC[4]AG[4]A[1], NC_000013.10:g.51978240AC[3]AGA[1], NC_000013.10:g.51978240AC[3]AG[2]A[1], NC_000013.10:g.51978240AC[3]AG[3]A[1], NC_000013.10:g.51978240AC[3]AG[4]A[1], NC_000013.10:g.51978240AC[2]AGA[1], NC_000013.10:g.51978240AC[2]AG[2]A[1], NC_000013.10:g.51978240AC[2]AG[3]A[1], NC_000013.10:g.51978240AC[2]AG[4]A[1], NC_000013.10:g.51978240AC[2]AG[5]A[1], NC_000013.10:g.51978240_51978241insCAGA, NC_000013.10:g.51978240_51978241insCAGAGA, NC_000013.10:g.51978240_51978241insCAGAGAGA, NC_000013.10:g.51978240_51978241insCAGAGAGAGA

Select item 14913885118.

rs1491388511 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:51427583 (GRCh38)
13:52001719 (GRCh37)
Canonical SPDI:: NC_000013.11:51427582:AT:
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000076/20 (TOPMED)
-=0.000093/13 (GnomAD)
HGVS:: NC_000013.11:g.51427583_51427584del, NC_000013.10:g.52001719_52001720del

Select item 14913655619.

rs1491365561 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAAAAAA,GAAAAAAAAAAGAAAAAAAAA,GGAAAAAAAAA [Show Flanks]
Chromosome:: 13:51403606 (GRCh38)
13:51977743 (GRCh37)
Canonical SPDI:: NC_000013.11:51403606:AAAAAAAAA:AAAAAAAAAGAAAAAAAAA,NC_000013.11:51403606:AAAAAAAAA:AAAAAAAAAGAAAAAAAAAAGAAAAAAAAA,NC_000013.11:51403606:AAAAAAAAA:AAAAAAAAAGGAAAAAAAAA
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAGGAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAG=0.00253/42 (TOMMO)
HGVS:: NC_000013.11:g.51403607_51403615A[9]GAAAAAAAAA[1], NC_000013.11:g.51403607_51403615AAAAAAAAAGA[2]A[8], NC_000013.11:g.51403607_51403615A[9]GGAAAAAAAAA[1], NC_000013.10:g.51977743_51977751A[9]GAAAAAAAAA[1], NC_000013.10:g.51977743_51977751AAAAAAAAAGA[2]A[8], NC_000013.10:g.51977743_51977751A[9]GGAAAAAAAAA[1]

Select item 149132599910.

rs1491325999 has merged into rs748460031 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:51444810 (GRCh38)
13:52018946 (GRCh37)
Canonical SPDI:: NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: INTS6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.15789/6 (GENOME_DK)
HGVS:: NC_000013.11:g.51444810_51444816del, NC_000013.11:g.51444811_51444816del, NC_000013.11:g.51444813_51444816del, NC_000013.11:g.51444814_51444816del, NC_000013.11:g.51444815_51444816del, NC_000013.11:g.51444816del, NC_000013.11:g.51444816dup, NC_000013.11:g.51444815_51444816dup, NC_000013.11:g.51444814_51444816dup, NC_000013.11:g.51444813_51444816dup, NC_000013.11:g.51444812_51444816dup, NC_000013.10:g.52018946_52018952del, NC_000013.10:g.52018947_52018952del, NC_000013.10:g.52018949_52018952del, NC_000013.10:g.52018950_52018952del, NC_000013.10:g.52018951_52018952del, NC_000013.10:g.52018952del, NC_000013.10:g.52018952dup, NC_000013.10:g.52018951_52018952dup, NC_000013.10:g.52018950_52018952dup, NC_000013.10:g.52018949_52018952dup, NC_000013.10:g.52018948_52018952dup, NM_001039938.2:c.*6209_*6215del, NM_001039938.2:c.*6210_*6215del, NM_001039938.2:c.*6212_*6215del, NM_001039938.2:c.*6213_*6215del, NM_001039938.2:c.*6214_*6215del, NM_001039938.2:c.*6215del, NM_001039938.2:c.*6215dup, NM_001039938.2:c.*6214_*6215dup, NM_001039938.2:c.*6213_*6215dup, NM_001039938.2:c.*6212_*6215dup, NM_001039938.2:c.*6211_*6215dup

Select item 149130657811.

rs1491306578 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:51375352 (GRCh38)
13:51949489 (GRCh37)
Canonical SPDI:: NC_000013.11:51375352::G
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.51375352_51375353insG, NC_000013.10:g.51949488_51949489insG

Select item 149128778612.

rs1491287786 has merged into rs34281256 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:51375360 (GRCh38)
13:51949496 (GRCh37)
Canonical SPDI:: NC_000013.11:51375351:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000013.11:51375351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:51375351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:51375351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:51375351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:51375351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:51375351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:51375351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:51375351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.51375360_51375368del, NC_000013.11:g.51375365_51375368del, NC_000013.11:g.51375366_51375368del, NC_000013.11:g.51375367_51375368del, NC_000013.11:g.51375368del, NC_000013.11:g.51375368dup, NC_000013.11:g.51375367_51375368dup, NC_000013.11:g.51375366_51375368dup, NC_000013.11:g.51375365_51375368dup, NC_000013.10:g.51949496_51949504del, NC_000013.10:g.51949501_51949504del, NC_000013.10:g.51949502_51949504del, NC_000013.10:g.51949503_51949504del, NC_000013.10:g.51949504del, NC_000013.10:g.51949504dup, NC_000013.10:g.51949503_51949504dup, NC_000013.10:g.51949502_51949504dup, NC_000013.10:g.51949501_51949504dup

Select item 149128454813.

rs1491284548 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA [Show Flanks]
Chromosome:: 13:51447733 (GRCh38)
13:52021870 (GRCh37)
Canonical SPDI:: NC_000013.11:51447733::GA
Gene:: INTS6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GA=0./0 (ALFA)
GA=0.00002/1 (GnomAD)
HGVS:: NC_000013.11:g.51447733_51447734insGA, NC_000013.10:g.52021869_52021870insGA, NM_001039938.2:c.*3282_*3283insTC

Select item 149122419014.

rs1491224190 has merged into rs1156836396 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:51403616 (GRCh38)
13:51977752 (GRCh37)
Canonical SPDI:: NC_000013.11:51403605:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:51403605:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:51403605:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:51403605:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:51403605:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:51403605:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:51403605:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:51403605:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:51403605:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:51403605:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAA=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51403616_51403618del, NC_000013.11:g.51403617_51403618del, NC_000013.11:g.51403618del, NC_000013.11:g.51403618dup, NC_000013.11:g.51403615_51403618dup, NC_000013.11:g.51403614_51403618dup, NC_000013.11:g.51403609_51403618dup, NC_000013.11:g.51403608_51403618dup, NC_000013.11:g.51403606_51403618dup, NC_000013.11:g.51403618_51403619insAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.51977752_51977754del, NC_000013.10:g.51977753_51977754del, NC_000013.10:g.51977754del, NC_000013.10:g.51977754dup, NC_000013.10:g.51977751_51977754dup, NC_000013.10:g.51977750_51977754dup, NC_000013.10:g.51977745_51977754dup, NC_000013.10:g.51977744_51977754dup, NC_000013.10:g.51977742_51977754dup, NC_000013.10:g.51977754_51977755insAAAAAAAAAAAAAAAAAAAAAAA

Select item 149121886115.

rs1491218861 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:51417453 (GRCh38)
13:51991590 (GRCh37)
Canonical SPDI:: NC_000013.11:51417453::C
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51417453_51417454insC, NC_000013.10:g.51991589_51991590insC

Select item 149119279916.

rs1491192799 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:51447733 (GRCh38)
13:52021869 (GRCh37)
Canonical SPDI:: NC_000013.11:51447732:GA:
Gene:: INTS6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.51447733_51447734del, NC_000013.10:g.52021869_52021870del, NM_001039938.2:c.*3282_*3283del

Select item 149118571417.

rs1491185714 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:51427583 (GRCh38)
13:52001720 (GRCh37)
Canonical SPDI:: NC_000013.11:51427583:TT:TTT
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.51427585dup, NC_000013.10:g.52001721dup

Select item 149112508518.

rs1491125085 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:51447758 (GRCh38)
13:52021894 (GRCh37)
Canonical SPDI:: NC_000013.11:51447756:AGA:A
Gene:: INTS6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.51447758_51447759del, NC_000013.10:g.52021894_52021895del, NM_001039938.2:c.*3258_*3259del

Select item 149106295019.

rs1491062950 has merged into rs201277531 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 13:51429800 (GRCh38)
13:52003936 (GRCh37)
Canonical SPDI:: NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:51429785:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT
Gene:: INTS6 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATAT=0./0 (ALFA)
ATAT=0.2/8 (GENOME_DK)
HGVS:: NC_000013.11:g.51429786AT[7], NC_000013.11:g.51429786AT[8], NC_000013.11:g.51429786AT[9], NC_000013.11:g.51429786AT[10], NC_000013.11:g.51429786AT[11], NC_000013.11:g.51429786AT[13], NC_000013.11:g.51429786AT[14], NC_000013.11:g.51429786AT[15], NC_000013.11:g.51429786AT[16], NC_000013.11:g.51429786AT[17], NC_000013.11:g.51429786AT[18], NC_000013.11:g.51429786AT[19], NC_000013.11:g.51429786AT[20], NC_000013.11:g.51429786AT[22], NC_000013.10:g.52003922AT[7], NC_000013.10:g.52003922AT[8], NC_000013.10:g.52003922AT[9], NC_000013.10:g.52003922AT[10], NC_000013.10:g.52003922AT[11], NC_000013.10:g.52003922AT[13], NC_000013.10:g.52003922AT[14], NC_000013.10:g.52003922AT[15], NC_000013.10:g.52003922AT[16], NC_000013.10:g.52003922AT[17], NC_000013.10:g.52003922AT[18], NC_000013.10:g.52003922AT[19], NC_000013.10:g.52003922AT[20], NC_000013.10:g.52003922AT[22]

Select item 149104871920.

rs1491048719 has merged into rs35562726 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 13:51372319 (GRCh38)
13:51946455 (GRCh37)
Canonical SPDI:: NC_000013.11:51372305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:51372305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:51372305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:51372305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:51372305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:51372305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: INTS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.51372319_51372321del, NC_000013.11:g.51372320_51372321del, NC_000013.11:g.51372321del, NC_000013.11:g.51372321dup, NC_000013.11:g.51372320_51372321dup, NC_000013.11:g.51372319_51372321dup, NC_000013.10:g.51946455_51946457del, NC_000013.10:g.51946456_51946457del, NC_000013.10:g.51946457del, NC_000013.10:g.51946457dup, NC_000013.10:g.51946456_51946457dup, NC_000013.10:g.51946455_51946457dup

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