SNP Links for Gene (Select 9955) - SNP

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Select item 14915616001.

rs1491561600 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:13560290 (GRCh38)
17:13463608 (GRCh37)
Canonical SPDI:: NC_000017.11:13560290::C
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.13560290_13560291insC, NC_000017.10:g.13463607_13463608insC

Select item 14915311092.

rs1491531109 [Homo sapiens]

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

Select item 14915032333.

rs1491503233 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:13579943 (GRCh38)
17:13483260 (GRCh37)
Canonical SPDI:: NC_000017.11:13579942:TA:
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00169/20 (ALFA)
HGVS:: NC_000017.11:g.13579943_13579944del, NC_000017.10:g.13483260_13483261del

Select item 14914999704.

rs1491499970 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:13554154 (GRCh38)
17:13457471 (GRCh37)
Canonical SPDI:: NC_000017.11:13554153:CT:
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.13554154_13554155del, NC_000017.10:g.13457471_13457472del

Select item 14914655795.

rs1491465579 has merged into rs10632927 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:13560295 (GRCh38)
17:13463612 (GRCh37)
Canonical SPDI:: NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13560289:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.1304/653 (1000Genomes)
-=0.2368/9 (GENOME_DK)
HGVS:: NC_000017.11:g.13560295_13560319del, NC_000017.11:g.13560299_13560319del, NC_000017.11:g.13560301_13560319del, NC_000017.11:g.13560302_13560319del, NC_000017.11:g.13560303_13560319del, NC_000017.11:g.13560304_13560319del, NC_000017.11:g.13560305_13560319del, NC_000017.11:g.13560306_13560319del, NC_000017.11:g.13560307_13560319del, NC_000017.11:g.13560308_13560319del, NC_000017.11:g.13560309_13560319del, NC_000017.11:g.13560310_13560319del, NC_000017.11:g.13560311_13560319del, NC_000017.11:g.13560312_13560319del, NC_000017.11:g.13560313_13560319del, NC_000017.11:g.13560314_13560319del, NC_000017.11:g.13560315_13560319del, NC_000017.11:g.13560316_13560319del, NC_000017.11:g.13560317_13560319del, NC_000017.11:g.13560318_13560319del, NC_000017.11:g.13560319del, NC_000017.11:g.13560319dup, NC_000017.11:g.13560318_13560319dup, NC_000017.11:g.13560317_13560319dup, NC_000017.11:g.13560316_13560319dup, NC_000017.11:g.13560315_13560319dup, NC_000017.11:g.13560314_13560319dup, NC_000017.11:g.13560313_13560319dup, NC_000017.11:g.13560312_13560319dup, NC_000017.11:g.13560311_13560319dup, NC_000017.11:g.13560310_13560319dup, NC_000017.11:g.13560309_13560319dup, NC_000017.11:g.13560308_13560319dup, NC_000017.11:g.13560307_13560319dup, NC_000017.11:g.13560306_13560319dup, NC_000017.11:g.13560305_13560319dup, NC_000017.11:g.13560304_13560319dup, NC_000017.11:g.13560303_13560319dup, NC_000017.11:g.13560300_13560319dup, NC_000017.11:g.13560292_13560319dup, NC_000017.11:g.13560291_13560319dup, NC_000017.11:g.13560290_13560319dup, NC_000017.11:g.13560319_13560320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.13560319_13560320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.13560319_13560320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.13560319_13560320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.13560319_13560320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.13560319_13560320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.13560319_13560320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.13560319_13560320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.13560319_13560320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.13463612_13463636del, NC_000017.10:g.13463616_13463636del, NC_000017.10:g.13463618_13463636del, NC_000017.10:g.13463619_13463636del, NC_000017.10:g.13463620_13463636del, NC_000017.10:g.13463621_13463636del, NC_000017.10:g.13463622_13463636del, NC_000017.10:g.13463623_13463636del, NC_000017.10:g.13463624_13463636del, NC_000017.10:g.13463625_13463636del, NC_000017.10:g.13463626_13463636del, NC_000017.10:g.13463627_13463636del, NC_000017.10:g.13463628_13463636del, NC_000017.10:g.13463629_13463636del, NC_000017.10:g.13463630_13463636del, NC_000017.10:g.13463631_13463636del, NC_000017.10:g.13463632_13463636del, NC_000017.10:g.13463633_13463636del, NC_000017.10:g.13463634_13463636del, NC_000017.10:g.13463635_13463636del, NC_000017.10:g.13463636del, NC_000017.10:g.13463636dup, NC_000017.10:g.13463635_13463636dup, NC_000017.10:g.13463634_13463636dup, NC_000017.10:g.13463633_13463636dup, NC_000017.10:g.13463632_13463636dup, NC_000017.10:g.13463631_13463636dup, NC_000017.10:g.13463630_13463636dup, NC_000017.10:g.13463629_13463636dup, NC_000017.10:g.13463628_13463636dup, NC_000017.10:g.13463627_13463636dup, NC_000017.10:g.13463626_13463636dup, NC_000017.10:g.13463625_13463636dup, NC_000017.10:g.13463624_13463636dup, NC_000017.10:g.13463623_13463636dup, NC_000017.10:g.13463622_13463636dup, NC_000017.10:g.13463621_13463636dup, NC_000017.10:g.13463620_13463636dup, NC_000017.10:g.13463617_13463636dup, NC_000017.10:g.13463609_13463636dup, NC_000017.10:g.13463608_13463636dup, NC_000017.10:g.13463607_13463636dup, NC_000017.10:g.13463636_13463637insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.13463636_13463637insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.13463636_13463637insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.13463636_13463637insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.13463636_13463637insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.13463636_13463637insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.13463636_13463637insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.13463636_13463637insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.13463636_13463637insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914506966.

rs1491450696 has merged into rs34470811 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 17:13554155 (GRCh38)
17:13457472 (GRCh37)
Canonical SPDI:: NC_000017.11:13554154:TTTTTT:TTTTT,NC_000017.11:13554154:TTTTTT:TTTTTTT
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.13554160del, NC_000017.11:g.13554160dup, NC_000017.10:g.13457477del, NC_000017.10:g.13457477dup

Select item 14914482397.

rs1491448239 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,CT [Show Flanks]
Chromosome:: 17:13585841 (GRCh38)
17:13489159 (GRCh37)
Canonical SPDI:: NC_000017.11:13585841:T:TAT,NC_000017.11:13585841:T:TCT
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.01553/176 (TOMMO)
TC=0.03593/1760 (GnomAD)
TC=0.0399/62 (Korea1K)
HGVS:: NC_000017.11:g.13585842_13585843insAT, NC_000017.11:g.13585842_13585843insCT, NC_000017.10:g.13489159_13489160insAT, NC_000017.10:g.13489159_13489160insCT

Select item 14914458288.

rs1491445828 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTT [Show Flanks]
Chromosome:: 17:13591038 (GRCh38)
17:13494356 (GRCh37)
Canonical SPDI:: NC_000017.11:13591038:TTTTCTTTTCTTTT:TTTTCTTTTCTTTTCTTTT
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTCTTTTCTTTTCTTTT=0./0 (ALFA)
TTTTC=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.13591043CTTTT[3], NC_000017.10:g.13494360CTTTT[3]

Select item 14914251939.

rs1491425193 has merged into rs71144975 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:13581480 (GRCh38)
17:13484797 (GRCh37)
Canonical SPDI:: NC_000017.11:13581466:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:13581466:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:13581466:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:13581466:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:13581466:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:13581466:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:13581466:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:13581466:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13581466:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13581466:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2133/822 (ALSPAC)
-=0.4627/2317 (1000Genomes)
HGVS:: NC_000017.11:g.13581480_13581483del, NC_000017.11:g.13581481_13581483del, NC_000017.11:g.13581482_13581483del, NC_000017.11:g.13581483del, NC_000017.11:g.13581483dup, NC_000017.11:g.13581482_13581483dup, NC_000017.11:g.13581481_13581483dup, NC_000017.11:g.13581480_13581483dup, NC_000017.11:g.13581477_13581483dup, NC_000017.11:g.13581473_13581483dup, NC_000017.10:g.13484797_13484800del, NC_000017.10:g.13484798_13484800del, NC_000017.10:g.13484799_13484800del, NC_000017.10:g.13484800del, NC_000017.10:g.13484800dup, NC_000017.10:g.13484799_13484800dup, NC_000017.10:g.13484798_13484800dup, NC_000017.10:g.13484797_13484800dup, NC_000017.10:g.13484794_13484800dup, NC_000017.10:g.13484790_13484800dup

Select item 149135269710.

rs1491352697 has merged into rs1426918791 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 17:13574761 (GRCh38)
17:13478078 (GRCh37)
Canonical SPDI:: NC_000017.11:13574759:AAAAAA:A,NC_000017.11:13574759:AAAAAA:AA,NC_000017.11:13574759:AAAAAA:AAAA,NC_000017.11:13574759:AAAAAA:AAAAA,NC_000017.11:13574759:AAAAAA:AAAAAAA,NC_000017.11:13574759:AAAAAA:AAAAAAAAAA
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.00071/20 (TOMMO)
HGVS:: NC_000017.11:g.13574761_13574765del, NC_000017.11:g.13574762_13574765del, NC_000017.11:g.13574764_13574765del, NC_000017.11:g.13574765del, NC_000017.11:g.13574765dup, NC_000017.11:g.13574762_13574765dup, NC_000017.10:g.13478078_13478082del, NC_000017.10:g.13478079_13478082del, NC_000017.10:g.13478081_13478082del, NC_000017.10:g.13478082del, NC_000017.10:g.13478082dup, NC_000017.10:g.13478079_13478082dup

Select item 149134061011.

rs1491340610 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:13522883 (GRCh38)
17:13426200 (GRCh37)
Canonical SPDI:: NC_000017.11:13522881:AAA:A
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.13522883_13522884del, NC_000017.10:g.13426200_13426201del

Select item 149132746812.

rs1491327468 has merged into rs10535139 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACA>-,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 17:13596428 (GRCh38)
17:13499745 (GRCh37)
Canonical SPDI:: NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:13596418:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
ACAC=0.4213/2110 (1000Genomes)
HGVS:: NC_000017.11:g.13596420CA[4], NC_000017.11:g.13596420CA[7], NC_000017.11:g.13596420CA[8], NC_000017.11:g.13596420CA[9], NC_000017.11:g.13596420CA[10], NC_000017.11:g.13596420CA[11], NC_000017.11:g.13596420CA[12], NC_000017.11:g.13596420CA[13], NC_000017.11:g.13596420CA[14], NC_000017.11:g.13596420CA[16], NC_000017.11:g.13596420CA[17], NC_000017.11:g.13596420CA[18], NC_000017.11:g.13596420CA[19], NC_000017.11:g.13596420CA[20], NC_000017.11:g.13596420CA[21], NC_000017.11:g.13596420CA[22], NC_000017.10:g.13499737CA[4], NC_000017.10:g.13499737CA[7], NC_000017.10:g.13499737CA[8], NC_000017.10:g.13499737CA[9], NC_000017.10:g.13499737CA[10], NC_000017.10:g.13499737CA[11], NC_000017.10:g.13499737CA[12], NC_000017.10:g.13499737CA[13], NC_000017.10:g.13499737CA[14], NC_000017.10:g.13499737CA[16], NC_000017.10:g.13499737CA[17], NC_000017.10:g.13499737CA[18], NC_000017.10:g.13499737CA[19], NC_000017.10:g.13499737CA[20], NC_000017.10:g.13499737CA[21], NC_000017.10:g.13499737CA[22], XM_017025480.3:c.*2264GT[4], XM_017025480.3:c.*2264GT[7], XM_017025480.3:c.*2264GT[8], XM_017025480.3:c.*2264GT[9], XM_017025480.3:c.*2264GT[10], XM_017025480.3:c.*2264GT[11], XM_017025480.3:c.*2264GT[12], XM_017025480.3:c.*2264GT[13], XM_017025480.3:c.*2264GT[14], XM_017025480.3:c.*2264GT[16], XM_017025480.3:c.*2264GT[17], XM_017025480.3:c.*2264GT[18], XM_017025480.3:c.*2264GT[19], XM_017025480.3:c.*2264GT[20], XM_017025480.3:c.*2264GT[21], XM_017025480.3:c.*2264GT[22], XM_017025480.2:c.*2264GT[4], XM_017025480.2:c.*2264GT[7], XM_017025480.2:c.*2264GT[8], XM_017025480.2:c.*2264GT[9], XM_017025480.2:c.*2264GT[10], XM_017025480.2:c.*2264GT[11], XM_017025480.2:c.*2264GT[12], XM_017025480.2:c.*2264GT[13], XM_017025480.2:c.*2264GT[14], XM_017025480.2:c.*2264GT[16], XM_017025480.2:c.*2264GT[17], XM_017025480.2:c.*2264GT[18], XM_017025480.2:c.*2264GT[19], XM_017025480.2:c.*2264GT[20], XM_017025480.2:c.*2264GT[21], XM_017025480.2:c.*2264GT[22], XM_017025480.1:c.*2264GT[4], XM_017025480.1:c.*2264GT[7], XM_017025480.1:c.*2264GT[8], XM_017025480.1:c.*2264GT[9], XM_017025480.1:c.*2264GT[10], XM_017025480.1:c.*2264GT[11], XM_017025480.1:c.*2264GT[12], XM_017025480.1:c.*2264GT[13], XM_017025480.1:c.*2264GT[14], XM_017025480.1:c.*2264GT[16], XM_017025480.1:c.*2264GT[17], XM_017025480.1:c.*2264GT[18], XM_017025480.1:c.*2264GT[19], XM_017025480.1:c.*2264GT[20], XM_017025480.1:c.*2264GT[21], XM_017025480.1:c.*2264GT[22]

Select item 149127991213.

rs1491279912 has merged into rs66635656 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGTTGTTGTTGTTG>-,TTG,TTGTTG,TTGTTGTTG,TTGTTGTTGTTG,TTGTTGTTGTTGTTGTTG,TTGTTGTTGTTGTTGTTGTTG,TTGTTGTTGTTGTTGTTGTTGTTG,TTGTTGTTGTTGTTGTTGTTGTTGTTG [Show Flanks]
Chromosome:: 17:13595863 (GRCh38)
17:13499180 (GRCh37)
Canonical SPDI:: NC_000017.11:13595846:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTG,NC_000017.11:13595846:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTG,NC_000017.11:13595846:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTG,NC_000017.11:13595846:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTG,NC_000017.11:13595846:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTGTTG,NC_000017.11:13595846:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG,NC_000017.11:13595846:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG,NC_000017.11:13595846:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG,NC_000017.11:13595846:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTGTTGTTGTTGTTGTTG=0./0 (ALFA)
GTT=0.00109/2 (Korea1K)
GTT=0.00839/5 (NorthernSweden)
HGVS:: NC_000017.11:g.13595848TTG[5], NC_000017.11:g.13595848TTG[6], NC_000017.11:g.13595848TTG[7], NC_000017.11:g.13595848TTG[8], NC_000017.11:g.13595848TTG[9], NC_000017.11:g.13595848TTG[11], NC_000017.11:g.13595848TTG[12], NC_000017.11:g.13595848TTG[13], NC_000017.11:g.13595848TTG[14], NC_000017.10:g.13499165TTG[5], NC_000017.10:g.13499165TTG[6], NC_000017.10:g.13499165TTG[7], NC_000017.10:g.13499165TTG[8], NC_000017.10:g.13499165TTG[9], NC_000017.10:g.13499165TTG[11], NC_000017.10:g.13499165TTG[12], NC_000017.10:g.13499165TTG[13], NC_000017.10:g.13499165TTG[14], XM_017025480.3:c.*2836AAC[5], XM_017025480.3:c.*2836AAC[6], XM_017025480.3:c.*2836AAC[7], XM_017025480.3:c.*2836AAC[8], XM_017025480.3:c.*2836AAC[9], XM_017025480.3:c.*2836AAC[11], XM_017025480.3:c.*2836AAC[12], XM_017025480.3:c.*2836AAC[13], XM_017025480.3:c.*2836AAC[14], XM_017025480.2:c.*2836AAC[5], XM_017025480.2:c.*2836AAC[6], XM_017025480.2:c.*2836AAC[7], XM_017025480.2:c.*2836AAC[8], XM_017025480.2:c.*2836AAC[9], XM_017025480.2:c.*2836AAC[11], XM_017025480.2:c.*2836AAC[12], XM_017025480.2:c.*2836AAC[13], XM_017025480.2:c.*2836AAC[14], XM_017025480.1:c.*2861_*2862insCAAC, XM_017025480.1:c.*2851_*2861del, XM_017025480.1:c.*2854_*2861del, XM_017025480.1:c.*2857_*2861del, XM_017025480.1:c.*2860_*2861del, XM_017025480.1:c.*2861_*2862insC, XM_017025480.1:c.*2861_*2862insCAACAAC, XM_017025480.1:c.*2861_*2862insCAACAACAAC, XM_017025480.1:c.*2861_*2862insCAACAACAACAAC, XM_017025480.1:c.*2861_*2862insCAACAACAACAACAAC

Select item 149127631414.

rs1491276314 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:13578562 (GRCh38)
17:13481879 (GRCh37)
Canonical SPDI:: NC_000017.11:13578561:CA:
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.13578562_13578563del, NC_000017.10:g.13481879_13481880del

Select item 149126170815.

rs1491261708 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:13512305 (GRCh38)
17:13415622 (GRCh37)
Canonical SPDI:: NC_000017.11:13512304:CA:
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0231/274 (ALFA)
-=0.00613/99 (TOMMO)
HGVS:: NC_000017.11:g.13512305_13512306del, NC_000017.10:g.13415622_13415623del

Select item 149125510916.

rs1491255109 [Homo sapiens]

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

Select item 149124225217.

rs1491242252 has merged into rs144678351 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:13503181 (GRCh38)
17:13406498 (GRCh37)
Canonical SPDI:: NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:13503173:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.095745/369 (ALSPAC)
-=0.180511/904 (1000Genomes)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000017.11:g.13503181_13503191del, NC_000017.11:g.13503184_13503191del, NC_000017.11:g.13503186_13503191del, NC_000017.11:g.13503187_13503191del, NC_000017.11:g.13503188_13503191del, NC_000017.11:g.13503189_13503191del, NC_000017.11:g.13503190_13503191del, NC_000017.11:g.13503191del, NC_000017.11:g.13503191dup, NC_000017.11:g.13503190_13503191dup, NC_000017.11:g.13503189_13503191dup, NC_000017.11:g.13503188_13503191dup, NC_000017.11:g.13503187_13503191dup, NC_000017.11:g.13503186_13503191dup, NC_000017.11:g.13503185_13503191dup, NC_000017.11:g.13503184_13503191dup, NC_000017.11:g.13503183_13503191dup, NC_000017.11:g.13503182_13503191dup, NC_000017.11:g.13503181_13503191dup, NC_000017.11:g.13503180_13503191dup, NC_000017.11:g.13503179_13503191dup, NC_000017.11:g.13503191_13503192insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.13406498_13406508del, NC_000017.10:g.13406501_13406508del, NC_000017.10:g.13406503_13406508del, NC_000017.10:g.13406504_13406508del, NC_000017.10:g.13406505_13406508del, NC_000017.10:g.13406506_13406508del, NC_000017.10:g.13406507_13406508del, NC_000017.10:g.13406508del, NC_000017.10:g.13406508dup, NC_000017.10:g.13406507_13406508dup, NC_000017.10:g.13406506_13406508dup, NC_000017.10:g.13406505_13406508dup, NC_000017.10:g.13406504_13406508dup, NC_000017.10:g.13406503_13406508dup, NC_000017.10:g.13406502_13406508dup, NC_000017.10:g.13406501_13406508dup, NC_000017.10:g.13406500_13406508dup, NC_000017.10:g.13406499_13406508dup, NC_000017.10:g.13406498_13406508dup, NC_000017.10:g.13406497_13406508dup, NC_000017.10:g.13406496_13406508dup, NC_000017.10:g.13406508_13406509insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149123892618.

rs1491238926 has merged into rs61165551 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:13542339 (GRCh38)
17:13445656 (GRCh37)
Canonical SPDI:: NC_000017.11:13542329:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:13542329:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:13542329:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:13542329:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:13542329:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:13542329:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:13542329:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:13542329:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:13542329:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:13542329:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:13542329:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:13542329:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.4173/2090 (1000Genomes)
HGVS:: NC_000017.11:g.13542339_13542347del, NC_000017.11:g.13542340_13542347del, NC_000017.11:g.13542341_13542347del, NC_000017.11:g.13542342_13542347del, NC_000017.11:g.13542343_13542347del, NC_000017.11:g.13542344_13542347del, NC_000017.11:g.13542345_13542347del, NC_000017.11:g.13542346_13542347del, NC_000017.11:g.13542347del, NC_000017.11:g.13542347dup, NC_000017.11:g.13542346_13542347dup, NC_000017.11:g.13542345_13542347dup, NC_000017.10:g.13445656_13445664del, NC_000017.10:g.13445657_13445664del, NC_000017.10:g.13445658_13445664del, NC_000017.10:g.13445659_13445664del, NC_000017.10:g.13445660_13445664del, NC_000017.10:g.13445661_13445664del, NC_000017.10:g.13445662_13445664del, NC_000017.10:g.13445663_13445664del, NC_000017.10:g.13445664del, NC_000017.10:g.13445664dup, NC_000017.10:g.13445663_13445664dup, NC_000017.10:g.13445662_13445664dup, XM_011524114.4:c.-1926_-1918del, XM_011524114.4:c.-1925_-1918del, XM_011524114.4:c.-1924_-1918del, XM_011524114.4:c.-1923_-1918del, XM_011524114.4:c.-1922_-1918del, XM_011524114.4:c.-1921_-1918del, XM_011524114.4:c.-1920_-1918del, XM_011524114.4:c.-1919_-1918del, XM_011524114.4:c.-1918del, XM_011524114.4:c.-1918dup, XM_011524114.4:c.-1919_-1918dup, XM_011524114.4:c.-1920_-1918dup, XM_047437228.1:c.-3270_-3262del, XM_047437228.1:c.-3269_-3262del, XM_047437228.1:c.-3268_-3262del, XM_047437228.1:c.-3267_-3262del, XM_047437228.1:c.-3266_-3262del, XM_047437228.1:c.-3265_-3262del, XM_047437228.1:c.-3264_-3262del, XM_047437228.1:c.-3263_-3262del, XM_047437228.1:c.-3262del, XM_047437228.1:c.-3262dup, XM_047437228.1:c.-3263_-3262dup, XM_047437228.1:c.-3264_-3262dup

Select item 149121501319.

rs1491215013 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:13503173 (GRCh38)
17:13406490 (GRCh37)
Canonical SPDI:: NC_000017.11:13503172:CA:
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.13503173_13503174del, NC_000017.10:g.13406490_13406491del

Select item 149120360520.

rs1491203605 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:13542329 (GRCh38)
17:13445646 (GRCh37)
Canonical SPDI:: NC_000017.11:13542328:CA:
Gene:: HS3ST3A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00067/8 (ALFA)
HGVS:: NC_000017.11:g.13542329_13542330del, NC_000017.10:g.13445646_13445647del, XM_011524114.4:c.-1918_-1917del, XM_047437228.1:c.-3262_-3261del

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