SNP Links for Nucleotide (Select 383209671) - SNP

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Select item 14915855671.

rs1491585567 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:157419176 (GRCh38)
7:157211870 (GRCh37)
Canonical SPDI:: NC_000007.14:157419175:AG:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000037/4 (GnomAD)
HGVS:: NC_000007.14:g.157419176_157419177del, NC_000007.13:g.157211870_157211871del, NG_032573.1:g.87161_87162del

Select item 14915771342.

rs1491577134 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGTGT [Show Flanks]
Chromosome:: 7:157339599 (GRCh38)
7:157132294 (GRCh37)
Canonical SPDI:: NC_000007.14:157339599:T:TGT,NC_000007.14:157339599:T:TGTGT,NC_000007.14:157339599:T:TGTGTGTGT
Gene:: DNAJB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.157339600_157339601insGT, NC_000007.14:g.157339600_157339601insGTGT, NC_000007.14:g.157339601GT[4], NC_000007.13:g.157132294_157132295insGT, NC_000007.13:g.157132294_157132295insGTGT, NC_000007.13:g.157132295GT[4], NG_032573.1:g.7585_7586insGT, NG_032573.1:g.7585_7586insGTGT, NG_032573.1:g.7586GT[4]

Select item 14915554423.

rs1491555442 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTA [Show Flanks]
Chromosome:: 7:157380587 (GRCh38)
7:157173282 (GRCh37)
Canonical SPDI:: NC_000007.14:157380587:TCTA:TCTATCTA
Gene:: DNAJB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTATCTA=0./0 (ALFA)
TCTA=0.000007/1 (GnomAD)
TCTA=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.157380588_157380591dup, NC_000007.13:g.157173282_157173285dup, NG_032573.1:g.48573_48576dup

Select item 14915341424.

rs1491534142 has merged into rs869242320 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:157395692 (GRCh38)
7:157188386 (GRCh37)
Canonical SPDI:: NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157395684:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAJB6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.157395692_157395702del, NC_000007.14:g.157395693_157395702del, NC_000007.14:g.157395695_157395702del, NC_000007.14:g.157395696_157395702del, NC_000007.14:g.157395697_157395702del, NC_000007.14:g.157395698_157395702del, NC_000007.14:g.157395699_157395702del, NC_000007.14:g.157395700_157395702del, NC_000007.14:g.157395701_157395702del, NC_000007.14:g.157395702del, NC_000007.14:g.157395702dup, NC_000007.14:g.157395701_157395702dup, NC_000007.14:g.157395700_157395702dup, NC_000007.14:g.157395699_157395702dup, NC_000007.14:g.157395698_157395702dup, NC_000007.14:g.157395697_157395702dup, NC_000007.14:g.157395696_157395702dup, NC_000007.14:g.157395695_157395702dup, NC_000007.14:g.157395694_157395702dup, NC_000007.14:g.157395690_157395702dup, NC_000007.14:g.157395702_157395703insTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.157188386_157188396del, NC_000007.13:g.157188387_157188396del, NC_000007.13:g.157188389_157188396del, NC_000007.13:g.157188390_157188396del, NC_000007.13:g.157188391_157188396del, NC_000007.13:g.157188392_157188396del, NC_000007.13:g.157188393_157188396del, NC_000007.13:g.157188394_157188396del, NC_000007.13:g.157188395_157188396del, NC_000007.13:g.157188396del, NC_000007.13:g.157188396dup, NC_000007.13:g.157188395_157188396dup, NC_000007.13:g.157188394_157188396dup, NC_000007.13:g.157188393_157188396dup, NC_000007.13:g.157188392_157188396dup, NC_000007.13:g.157188391_157188396dup, NC_000007.13:g.157188390_157188396dup, NC_000007.13:g.157188389_157188396dup, NC_000007.13:g.157188388_157188396dup, NC_000007.13:g.157188384_157188396dup, NC_000007.13:g.157188396_157188397insTTTTTTTTTTTTTTTTTTTT, NG_032573.1:g.63677_63687del, NG_032573.1:g.63678_63687del, NG_032573.1:g.63680_63687del, NG_032573.1:g.63681_63687del, NG_032573.1:g.63682_63687del, NG_032573.1:g.63683_63687del, NG_032573.1:g.63684_63687del, NG_032573.1:g.63685_63687del, NG_032573.1:g.63686_63687del, NG_032573.1:g.63687del, NG_032573.1:g.63687dup, NG_032573.1:g.63686_63687dup, NG_032573.1:g.63685_63687dup, NG_032573.1:g.63684_63687dup, NG_032573.1:g.63683_63687dup, NG_032573.1:g.63682_63687dup, NG_032573.1:g.63681_63687dup, NG_032573.1:g.63680_63687dup, NG_032573.1:g.63679_63687dup, NG_032573.1:g.63675_63687dup, NG_032573.1:g.63687_63688insTTTTTTTTTTTTTTTTTTTT

Select item 14915045235.

rs1491504523 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAGGTGGATCC [Show Flanks]
Chromosome:: 7:157348042 (GRCh38)
7:157140737 (GRCh37)
Canonical SPDI:: NC_000007.14:157348042::GAGGTGGATCC
Gene:: DNAJB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAGGTGGATCC=0./0 (ALFA)
GAGGTGGATCC=0.000072/10 (GnomAD)
HGVS:: NC_000007.14:g.157348042_157348043insGAGGTGGATCC, NC_000007.13:g.157140736_157140737insGAGGTGGATCC, NG_032573.1:g.16027_16028insGAGGTGGATCC

Select item 14914904186.

rs1491490418 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:157351658 (GRCh38)
7:157144352 (GRCh37)
Canonical SPDI:: NC_000007.14:157351656:ACA:A
Gene:: DNAJB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00034/4 (ALFA)
HGVS:: NC_000007.14:g.157351658_157351659del, NC_000007.13:g.157144352_157144353del, NG_032573.1:g.19643_19644del

Select item 14914890997.

rs1491489099 [Homo sapiens]

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

Select item 14914591178.

rs1491459117 [Homo sapiens]

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

Select item 14914492619.

rs1491449261 [Homo sapiens]

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

Select item 149144253110.

rs1491442531 has merged into rs370854040 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:157353591 (GRCh38)
7:157146285 (GRCh37)
Canonical SPDI:: NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:157353586:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: DNAJB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.157353587GT[2], NC_000007.14:g.157353587GT[6], NC_000007.14:g.157353587GT[8], NC_000007.14:g.157353587GT[10], NC_000007.14:g.157353587GT[11], NC_000007.14:g.157353587GT[12], NC_000007.14:g.157353587GT[13], NC_000007.14:g.157353587GT[14], NC_000007.14:g.157353587GT[15], NC_000007.14:g.157353587GT[16], NC_000007.14:g.157353587GT[17], NC_000007.14:g.157353587GT[19], NC_000007.14:g.157353587GT[20], NC_000007.14:g.157353587GT[21], NC_000007.14:g.157353587GT[22], NC_000007.14:g.157353587GT[23], NC_000007.14:g.157353587GT[24], NC_000007.14:g.157353587GT[25], NC_000007.14:g.157353587GT[26], NC_000007.14:g.157353587GT[27], NC_000007.14:g.157353587GT[28], NC_000007.14:g.157353587GT[29], NC_000007.14:g.157353587GT[30], NC_000007.14:g.157353587GT[31], NC_000007.14:g.157353587GT[33], NC_000007.13:g.157146281GT[2], NC_000007.13:g.157146281GT[6], NC_000007.13:g.157146281GT[8], NC_000007.13:g.157146281GT[10], NC_000007.13:g.157146281GT[11], NC_000007.13:g.157146281GT[12], NC_000007.13:g.157146281GT[13], NC_000007.13:g.157146281GT[14], NC_000007.13:g.157146281GT[15], NC_000007.13:g.157146281GT[16], NC_000007.13:g.157146281GT[17], NC_000007.13:g.157146281GT[19], NC_000007.13:g.157146281GT[20], NC_000007.13:g.157146281GT[21], NC_000007.13:g.157146281GT[22], NC_000007.13:g.157146281GT[23], NC_000007.13:g.157146281GT[24], NC_000007.13:g.157146281GT[25], NC_000007.13:g.157146281GT[26], NC_000007.13:g.157146281GT[27], NC_000007.13:g.157146281GT[28], NC_000007.13:g.157146281GT[29], NC_000007.13:g.157146281GT[30], NC_000007.13:g.157146281GT[31], NC_000007.13:g.157146281GT[33], NG_032573.1:g.21572GT[2], NG_032573.1:g.21572GT[6], NG_032573.1:g.21572GT[8], NG_032573.1:g.21572GT[10], NG_032573.1:g.21572GT[11], NG_032573.1:g.21572GT[12], NG_032573.1:g.21572GT[13], NG_032573.1:g.21572GT[14], NG_032573.1:g.21572GT[15], NG_032573.1:g.21572GT[16], NG_032573.1:g.21572GT[17], NG_032573.1:g.21572GT[19], NG_032573.1:g.21572GT[20], NG_032573.1:g.21572GT[21], NG_032573.1:g.21572GT[22], NG_032573.1:g.21572GT[23], NG_032573.1:g.21572GT[24], NG_032573.1:g.21572GT[25], NG_032573.1:g.21572GT[26], NG_032573.1:g.21572GT[27], NG_032573.1:g.21572GT[28], NG_032573.1:g.21572GT[29], NG_032573.1:g.21572GT[30], NG_032573.1:g.21572GT[31], NG_032573.1:g.21572GT[33]

Select item 149143268511.

rs1491432685 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGGATGCCCGGGTCCCCGTGCCTTCGTGT [Show Flanks]
Chromosome:: 7:157400361 (GRCh38)
7:157193056 (GRCh37)
Canonical SPDI:: NC_000007.14:157400361::GGGATGCCCGGGTCCCCGTGCCTTCGTGT
Gene:: DNAJB6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: GGGATGCCCGGGTCCCCGTGCCTTCGTGT=0.00081/14 (TOMMO)
GGGATGCCCGGGTCCCCGTGCCTTCGTGT=0.00087/32 (GnomAD)
HGVS:: NC_000007.14:g.157400361_157400362insGGGATGCCCGGGTCCCCGTGCCTTCGTGT, NC_000007.13:g.157193055_157193056insGGGATGCCCGGGTCCCCGTGCCTTCGTGT, NG_032573.1:g.68346_68347insGGGATGCCCGGGTCCCCGTGCCTTCGTGT

Select item 149139933312.

rs1491399333 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:157383610 (GRCh38)
7:157176305 (GRCh37)
Canonical SPDI:: NC_000007.14:157383610::G
Gene:: DNAJB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
G=0.00015/11 (GnomAD)
HGVS:: NC_000007.14:g.157383610_157383611insG, NC_000007.13:g.157176304_157176305insG, NG_032573.1:g.51595_51596insG

Select item 149139654213.

rs1491396542 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 7:157357234 (GRCh38)
7:157149928 (GRCh37)
Canonical SPDI:: NC_000007.14:157357233:CC:
Gene:: DNAJB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0025/23 (TOMMO)
HGVS:: NC_000007.14:g.157357234_157357235del, NC_000007.13:g.157149928_157149929del, NG_032573.1:g.25219_25220del

Select item 149139546914.

rs1491395469 has merged into rs11329531 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:157342344 (GRCh38)
7:157135038 (GRCh37)
Canonical SPDI:: NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157342333:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAJB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.157342344_157342360del, NC_000007.14:g.157342346_157342360del, NC_000007.14:g.157342347_157342360del, NC_000007.14:g.157342348_157342360del, NC_000007.14:g.157342349_157342360del, NC_000007.14:g.157342350_157342360del, NC_000007.14:g.157342351_157342360del, NC_000007.14:g.157342352_157342360del, NC_000007.14:g.157342353_157342360del, NC_000007.14:g.157342354_157342360del, NC_000007.14:g.157342355_157342360del, NC_000007.14:g.157342356_157342360del, NC_000007.14:g.157342357_157342360del, NC_000007.14:g.157342358_157342360del, NC_000007.14:g.157342359_157342360del, NC_000007.14:g.157342360del, NC_000007.14:g.157342360dup, NC_000007.14:g.157342359_157342360dup, NC_000007.14:g.157342358_157342360dup, NC_000007.14:g.157342357_157342360dup, NC_000007.14:g.157342356_157342360dup, NC_000007.14:g.157342355_157342360dup, NC_000007.14:g.157342354_157342360dup, NC_000007.14:g.157342353_157342360dup, NC_000007.14:g.157342352_157342360dup, NC_000007.13:g.157135038_157135054del, NC_000007.13:g.157135040_157135054del, NC_000007.13:g.157135041_157135054del, NC_000007.13:g.157135042_157135054del, NC_000007.13:g.157135043_157135054del, NC_000007.13:g.157135044_157135054del, NC_000007.13:g.157135045_157135054del, NC_000007.13:g.157135046_157135054del, NC_000007.13:g.157135047_157135054del, NC_000007.13:g.157135048_157135054del, NC_000007.13:g.157135049_157135054del, NC_000007.13:g.157135050_157135054del, NC_000007.13:g.157135051_157135054del, NC_000007.13:g.157135052_157135054del, NC_000007.13:g.157135053_157135054del, NC_000007.13:g.157135054del, NC_000007.13:g.157135054dup, NC_000007.13:g.157135053_157135054dup, NC_000007.13:g.157135052_157135054dup, NC_000007.13:g.157135051_157135054dup, NC_000007.13:g.157135050_157135054dup, NC_000007.13:g.157135049_157135054dup, NC_000007.13:g.157135048_157135054dup, NC_000007.13:g.157135047_157135054dup, NC_000007.13:g.157135046_157135054dup, NG_032573.1:g.10329_10345del, NG_032573.1:g.10331_10345del, NG_032573.1:g.10332_10345del, NG_032573.1:g.10333_10345del, NG_032573.1:g.10334_10345del, NG_032573.1:g.10335_10345del, NG_032573.1:g.10336_10345del, NG_032573.1:g.10337_10345del, NG_032573.1:g.10338_10345del, NG_032573.1:g.10339_10345del, NG_032573.1:g.10340_10345del, NG_032573.1:g.10341_10345del, NG_032573.1:g.10342_10345del, NG_032573.1:g.10343_10345del, NG_032573.1:g.10344_10345del, NG_032573.1:g.10345del, NG_032573.1:g.10345dup, NG_032573.1:g.10344_10345dup, NG_032573.1:g.10343_10345dup, NG_032573.1:g.10342_10345dup, NG_032573.1:g.10341_10345dup, NG_032573.1:g.10340_10345dup, NG_032573.1:g.10339_10345dup, NG_032573.1:g.10338_10345dup, NG_032573.1:g.10337_10345dup

Select item 149138227615.

rs1491382276 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 7:157395685 (GRCh38)
7:157188380 (GRCh37)
Canonical SPDI:: NC_000007.14:157395685:TT:TTCTT
Gene:: DNAJB6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.000036/4 (GnomAD)
HGVS:: NC_000007.14:g.157395687_157395688insCTT, NC_000007.13:g.157188381_157188382insCTT, NG_032573.1:g.63672_63673insCTT

Select item 149135730916.

rs1491357309 has merged into rs1554450151 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 7:157341006 (GRCh38)
7:157133700 (GRCh37)
Canonical SPDI:: NC_000007.14:157340997:GCGCGCGCGC:GCGCGCGC,NC_000007.14:157340997:GCGCGCGCGC:GCGCGCGCGCGC,NC_000007.14:157340997:GCGCGCGCGC:GCGCGCGCGCGCGC,NC_000007.14:157340997:GCGCGCGCGC:GCGCGCGCGCGCGCGC,NC_000007.14:157340997:GCGCGCGCGC:GCGCGCGCGCGCGCGCGC,NC_000007.14:157340997:GCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGC
Gene:: DNAJB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGCGCGC=0./0 (ALFA)
-=0.00352/59 (TOMMO)
-=0.00492/9 (Korea1K)
GCGC=0.00839/5 (NorthernSweden)
HGVS:: NC_000007.14:g.157340998GC[4], NC_000007.14:g.157340998GC[6], NC_000007.14:g.157340998GC[7], NC_000007.14:g.157340998GC[8], NC_000007.14:g.157340998GC[9], NC_000007.14:g.157340998GC[11], NC_000007.13:g.157133692GC[4], NC_000007.13:g.157133692GC[6], NC_000007.13:g.157133692GC[7], NC_000007.13:g.157133692GC[8], NC_000007.13:g.157133692GC[9], NC_000007.13:g.157133692GC[11], NG_032573.1:g.8983GC[4], NG_032573.1:g.8983GC[6], NG_032573.1:g.8983GC[7], NG_032573.1:g.8983GC[8], NG_032573.1:g.8983GC[9], NG_032573.1:g.8983GC[11]

Select item 149131078917.

rs1491310789 [Homo sapiens]

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

Select item 149129104518.

rs1491291045 has merged into rs57244594 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:157334842 (GRCh38)
7:157127536 (GRCh37)
Canonical SPDI:: NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157334828:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.157334842_157334856del, NC_000007.14:g.157334843_157334856del, NC_000007.14:g.157334844_157334856del, NC_000007.14:g.157334845_157334856del, NC_000007.14:g.157334846_157334856del, NC_000007.14:g.157334847_157334856del, NC_000007.14:g.157334848_157334856del, NC_000007.14:g.157334850_157334856del, NC_000007.14:g.157334851_157334856del, NC_000007.14:g.157334852_157334856del, NC_000007.14:g.157334853_157334856del, NC_000007.14:g.157334854_157334856del, NC_000007.14:g.157334855_157334856del, NC_000007.14:g.157334856del, NC_000007.14:g.157334856dup, NC_000007.14:g.157334855_157334856dup, NC_000007.14:g.157334854_157334856dup, NC_000007.14:g.157334853_157334856dup, NC_000007.14:g.157334852_157334856dup, NC_000007.13:g.157127536_157127550del, NC_000007.13:g.157127537_157127550del, NC_000007.13:g.157127538_157127550del, NC_000007.13:g.157127539_157127550del, NC_000007.13:g.157127540_157127550del, NC_000007.13:g.157127541_157127550del, NC_000007.13:g.157127542_157127550del, NC_000007.13:g.157127544_157127550del, NC_000007.13:g.157127545_157127550del, NC_000007.13:g.157127546_157127550del, NC_000007.13:g.157127547_157127550del, NC_000007.13:g.157127548_157127550del, NC_000007.13:g.157127549_157127550del, NC_000007.13:g.157127550del, NC_000007.13:g.157127550dup, NC_000007.13:g.157127549_157127550dup, NC_000007.13:g.157127548_157127550dup, NC_000007.13:g.157127547_157127550dup, NC_000007.13:g.157127546_157127550dup, NG_032573.1:g.2827_2841del, NG_032573.1:g.2828_2841del, NG_032573.1:g.2829_2841del, NG_032573.1:g.2830_2841del, NG_032573.1:g.2831_2841del, NG_032573.1:g.2832_2841del, NG_032573.1:g.2833_2841del, NG_032573.1:g.2835_2841del, NG_032573.1:g.2836_2841del, NG_032573.1:g.2837_2841del, NG_032573.1:g.2838_2841del, NG_032573.1:g.2839_2841del, NG_032573.1:g.2840_2841del, NG_032573.1:g.2841del, NG_032573.1:g.2841dup, NG_032573.1:g.2840_2841dup, NG_032573.1:g.2839_2841dup, NG_032573.1:g.2838_2841dup, NG_032573.1:g.2837_2841dup

Select item 149128553219.

rs1491285532 has merged into rs1228805395 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTTT [Show Flanks]
Chromosome:: 7:157339601 (GRCh38)
7:157132295 (GRCh37)
Canonical SPDI:: NC_000007.14:157339598:TTTT:TT,NC_000007.14:157339598:TTTT:TTT,NC_000007.14:157339598:TTTT:TTTTTT
Gene:: DNAJB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0.00044/8 (ALFA)
-=0.00167/1 (NorthernSweden)
-=0.00559/93 (TOMMO)
HGVS:: NC_000007.14:g.157339601_157339602del, NC_000007.14:g.157339602del, NC_000007.14:g.157339601_157339602dup, NC_000007.13:g.157132295_157132296del, NC_000007.13:g.157132296del, NC_000007.13:g.157132295_157132296dup, NG_032573.1:g.7586_7587del, NG_032573.1:g.7587del, NG_032573.1:g.7586_7587dup

Select item 149123174820.

rs1491231748 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 7:157419177 (GRCh38)
7:157211871 (GRCh37)
Canonical SPDI:: NC_000007.14:157419176:GGGGGG:GGGGG,NC_000007.14:157419176:GGGGGG:GGGGGGG
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.00004/2 (GnomAD)
HGVS:: NC_000007.14:g.157419182del, NC_000007.14:g.157419182dup, NC_000007.13:g.157211876del, NC_000007.13:g.157211876dup, NG_032573.1:g.87167del, NG_032573.1:g.87167dup

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