SNP Links for Gene (Select 55008) - SNP

Links from Gene

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Select item 14915797801.

rs1491579780 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:88380093 (GRCh38)
4:89301246 (GRCh37)
Canonical SPDI:: NC_000004.12:88380093::T
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00776/92 (ALFA)
HGVS:: NC_000004.12:g.88380093_88380094insT, NC_000004.11:g.89301245_89301246insT

Select item 14915708602.

rs1491570860 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 4:88380094 (GRCh38)
4:89301246 (GRCh37)
Canonical SPDI:: NC_000004.12:88380092:AAA:A,NC_000004.12:88380092:AAA:AA
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.88380094_88380095del, NC_000004.12:g.88380095del, NC_000004.11:g.89301246_89301247del, NC_000004.11:g.89301247del

Select item 14915168993.

rs1491516899 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:88390202 (GRCh38)
4:89311354 (GRCh37)
Canonical SPDI:: NC_000004.12:88390200:AGA:A
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00013/2 (ALFA)
-=0.00055/1 (Korea1K)
-=0.00167/1 (NorthernSweden)
HGVS:: NC_000004.12:g.88390202_88390203del, NC_000004.11:g.89311354_89311355del

Select item 14915017384.

rs1491501738 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:88439861 (GRCh38)
4:89361013 (GRCh37)
Canonical SPDI:: NC_000004.12:88439860:TG:
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00032/4 (ExAC)
HGVS:: NC_000004.12:g.88439861_88439862del, NC_000004.11:g.89361013_89361014del

Select item 14914695555.

rs1491469555 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 4:88380130 (GRCh38)
4:89301282 (GRCh37)
Canonical SPDI:: NC_000004.12:88380128:AAA:A,NC_000004.12:88380128:AAA:AAAAA
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.88380130_88380131del, NC_000004.12:g.88380130_88380131dup, NC_000004.11:g.89301282_89301283del, NC_000004.11:g.89301282_89301283dup

Select item 14914615576.

rs1491461557 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:88438125 (GRCh38)
4:89359277 (GRCh37)
Canonical SPDI:: NC_000004.12:88438124:CA:
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.88438125_88438126del, NC_000004.11:g.89359277_89359278del

Select item 14913656727.

rs1491365672 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 4:88383764 (GRCh38)
4:89304917 (GRCh37)
Canonical SPDI:: NC_000004.12:88383764:A:ACA
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88383765_88383766insCA, NC_000004.11:g.89304917_89304918insCA

Select item 14913621228.

rs1491362122 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAAAAT [Show Flanks]
Chromosome:: 4:88380129 (GRCh38)
4:89301282 (GRCh37)
Canonical SPDI:: NC_000004.12:88380129::TAAAAT
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAAAAT=0.00034/4 (ALFA)
HGVS:: NC_000004.12:g.88380129_88380130insTAAAAT, NC_000004.11:g.89301281_89301282insTAAAAT

Select item 14913195659.

rs1491319565 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:88380243 (GRCh38)
4:89301395 (GRCh37)
Canonical SPDI:: NC_000004.12:88380242:AA:
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.88380243_88380244del, NC_000004.11:g.89301395_89301396del

Select item 149128201010.

rs1491282010 has merged into rs753643806 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:88383773 (GRCh38)
4:89304925 (GRCh37)
Canonical SPDI:: NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000004.12:g.88383773_88383793del, NC_000004.12:g.88383775_88383793del, NC_000004.12:g.88383776_88383793del, NC_000004.12:g.88383777_88383793del, NC_000004.12:g.88383778_88383793del, NC_000004.12:g.88383779_88383793del, NC_000004.12:g.88383780_88383793del, NC_000004.12:g.88383781_88383793del, NC_000004.12:g.88383782_88383793del, NC_000004.12:g.88383783_88383793del, NC_000004.12:g.88383784_88383793del, NC_000004.12:g.88383785_88383793del, NC_000004.12:g.88383786_88383793del, NC_000004.12:g.88383788_88383793del, NC_000004.12:g.88383789_88383793del, NC_000004.12:g.88383790_88383793del, NC_000004.12:g.88383791_88383793del, NC_000004.12:g.88383792_88383793del, NC_000004.12:g.88383793del, NC_000004.12:g.88383793dup, NC_000004.12:g.88383792_88383793dup, NC_000004.12:g.88383791_88383793dup, NC_000004.12:g.88383790_88383793dup, NC_000004.12:g.88383789_88383793dup, NC_000004.12:g.88383788_88383793dup, NC_000004.12:g.88383787_88383793dup, NC_000004.12:g.88383786_88383793dup, NC_000004.12:g.88383785_88383793dup, NC_000004.12:g.88383784_88383793dup, NC_000004.12:g.88383783_88383793dup, NC_000004.12:g.88383782_88383793dup, NC_000004.12:g.88383768_88383793dup, NC_000004.12:g.88383766_88383793dup, NC_000004.12:g.88383765_88383793dup, NC_000004.11:g.89304925_89304945del, NC_000004.11:g.89304927_89304945del, NC_000004.11:g.89304928_89304945del, NC_000004.11:g.89304929_89304945del, NC_000004.11:g.89304930_89304945del, NC_000004.11:g.89304931_89304945del, NC_000004.11:g.89304932_89304945del, NC_000004.11:g.89304933_89304945del, NC_000004.11:g.89304934_89304945del, NC_000004.11:g.89304935_89304945del, NC_000004.11:g.89304936_89304945del, NC_000004.11:g.89304937_89304945del, NC_000004.11:g.89304938_89304945del, NC_000004.11:g.89304940_89304945del, NC_000004.11:g.89304941_89304945del, NC_000004.11:g.89304942_89304945del, NC_000004.11:g.89304943_89304945del, NC_000004.11:g.89304944_89304945del, NC_000004.11:g.89304945del, NC_000004.11:g.89304945dup, NC_000004.11:g.89304944_89304945dup, NC_000004.11:g.89304943_89304945dup, NC_000004.11:g.89304942_89304945dup, NC_000004.11:g.89304941_89304945dup, NC_000004.11:g.89304940_89304945dup, NC_000004.11:g.89304939_89304945dup, NC_000004.11:g.89304938_89304945dup, NC_000004.11:g.89304937_89304945dup, NC_000004.11:g.89304936_89304945dup, NC_000004.11:g.89304935_89304945dup, NC_000004.11:g.89304934_89304945dup, NC_000004.11:g.89304920_89304945dup, NC_000004.11:g.89304918_89304945dup, NC_000004.11:g.89304917_89304945dup

Select item 149123872311.

rs1491238723 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 4:88431329 (GRCh38)
4:89352481 (GRCh37)
Canonical SPDI:: NC_000004.12:88431328:TC:
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000004.12:g.88431329_88431330del, NC_000004.11:g.89352481_89352482del

Select item 149120169412.

rs1491201694 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT,TC,TG,TT [Show Flanks]
Chromosome:: 4:88380243 (GRCh38)
4:89301396 (GRCh37)
Canonical SPDI:: NC_000004.12:88380243::CT,NC_000004.12:88380243::TC,NC_000004.12:88380243::TG,NC_000004.12:88380243::TT
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
HGVS:: NC_000004.12:g.88380243_88380244insCT, NC_000004.12:g.88380243_88380244insTC, NC_000004.12:g.88380243_88380244insTG, NC_000004.12:g.88380243_88380244insTT, NC_000004.11:g.89301395_89301396insCT, NC_000004.11:g.89301395_89301396insTC, NC_000004.11:g.89301395_89301396insTG, NC_000004.11:g.89301395_89301396insTT

Select item 149106714613.

rs1491067146 has merged into rs202065455 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATA>-,TATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA [Show Flanks]
Chromosome:: 4:88379625 (GRCh38)
4:89300777 (GRCh37)
Canonical SPDI:: NC_000004.12:88379623:ATATATATATATA:A,NC_000004.12:88379623:ATATATATATATA:ATATATATATA,NC_000004.12:88379623:ATATATATATATA:ATATATATATATATA,NC_000004.12:88379623:ATATATATATATA:ATATATATATATATATA,NC_000004.12:88379623:ATATATATATATA:ATATATATATATATATATA
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
AT=0.025/1 (GENOME_DK)
AT=0.02872/17 (NorthernSweden)
AT=0.06793/340 (1000Genomes)
AT=0.14259/233 (Korea1K)
HGVS:: NC_000004.12:g.88379625_88379636del, NC_000004.12:g.88379625TA[5], NC_000004.12:g.88379625TA[7], NC_000004.12:g.88379625TA[8], NC_000004.12:g.88379625TA[9], NC_000004.11:g.89300777_89300788del, NC_000004.11:g.89300777TA[5], NC_000004.11:g.89300777TA[7], NC_000004.11:g.89300777TA[8], NC_000004.11:g.89300777TA[9]

Select item 149072525114.

rs1490725251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:88406172 (GRCh38)
4:89327324 (GRCh37)
Canonical SPDI:: NC_000004.12:88406171:G:A
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88406172G>A, NC_000004.11:g.89327324G>A

Select item 149069521515.

rs1490695215 has merged into rs753643806 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:88383773 (GRCh38)
4:89304925 (GRCh37)
Canonical SPDI:: NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88383763:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000004.12:g.88383773_88383793del, NC_000004.12:g.88383775_88383793del, NC_000004.12:g.88383776_88383793del, NC_000004.12:g.88383777_88383793del, NC_000004.12:g.88383778_88383793del, NC_000004.12:g.88383779_88383793del, NC_000004.12:g.88383780_88383793del, NC_000004.12:g.88383781_88383793del, NC_000004.12:g.88383782_88383793del, NC_000004.12:g.88383783_88383793del, NC_000004.12:g.88383784_88383793del, NC_000004.12:g.88383785_88383793del, NC_000004.12:g.88383786_88383793del, NC_000004.12:g.88383788_88383793del, NC_000004.12:g.88383789_88383793del, NC_000004.12:g.88383790_88383793del, NC_000004.12:g.88383791_88383793del, NC_000004.12:g.88383792_88383793del, NC_000004.12:g.88383793del, NC_000004.12:g.88383793dup, NC_000004.12:g.88383792_88383793dup, NC_000004.12:g.88383791_88383793dup, NC_000004.12:g.88383790_88383793dup, NC_000004.12:g.88383789_88383793dup, NC_000004.12:g.88383788_88383793dup, NC_000004.12:g.88383787_88383793dup, NC_000004.12:g.88383786_88383793dup, NC_000004.12:g.88383785_88383793dup, NC_000004.12:g.88383784_88383793dup, NC_000004.12:g.88383783_88383793dup, NC_000004.12:g.88383782_88383793dup, NC_000004.12:g.88383768_88383793dup, NC_000004.12:g.88383766_88383793dup, NC_000004.12:g.88383765_88383793dup, NC_000004.11:g.89304925_89304945del, NC_000004.11:g.89304927_89304945del, NC_000004.11:g.89304928_89304945del, NC_000004.11:g.89304929_89304945del, NC_000004.11:g.89304930_89304945del, NC_000004.11:g.89304931_89304945del, NC_000004.11:g.89304932_89304945del, NC_000004.11:g.89304933_89304945del, NC_000004.11:g.89304934_89304945del, NC_000004.11:g.89304935_89304945del, NC_000004.11:g.89304936_89304945del, NC_000004.11:g.89304937_89304945del, NC_000004.11:g.89304938_89304945del, NC_000004.11:g.89304940_89304945del, NC_000004.11:g.89304941_89304945del, NC_000004.11:g.89304942_89304945del, NC_000004.11:g.89304943_89304945del, NC_000004.11:g.89304944_89304945del, NC_000004.11:g.89304945del, NC_000004.11:g.89304945dup, NC_000004.11:g.89304944_89304945dup, NC_000004.11:g.89304943_89304945dup, NC_000004.11:g.89304942_89304945dup, NC_000004.11:g.89304941_89304945dup, NC_000004.11:g.89304940_89304945dup, NC_000004.11:g.89304939_89304945dup, NC_000004.11:g.89304938_89304945dup, NC_000004.11:g.89304937_89304945dup, NC_000004.11:g.89304936_89304945dup, NC_000004.11:g.89304935_89304945dup, NC_000004.11:g.89304934_89304945dup, NC_000004.11:g.89304920_89304945dup, NC_000004.11:g.89304918_89304945dup, NC_000004.11:g.89304917_89304945dup

Select item 149066073316.

rs1490660733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:88426309 (GRCh38)
4:89347461 (GRCh37)
Canonical SPDI:: NC_000004.12:88426308:C:T
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00007/2 (TOMMO)
HGVS:: NC_000004.12:g.88426309C>T, NC_000004.11:g.89347461C>T

Select item 149062179517.

rs1490621795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88399859 (GRCh38)
4:89321011 (GRCh37)
Canonical SPDI:: NC_000004.12:88399858:A:G
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000684/2 (KOREAN)
HGVS:: NC_000004.12:g.88399859A>G, NC_000004.11:g.89321011A>G

Select item 149046279118.

rs1490462791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:88385536 (GRCh38)
4:89306688 (GRCh37)
Canonical SPDI:: NC_000004.12:88385535:G:C
Gene:: HERC6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.88385536G>C, NC_000004.11:g.89306688G>C, XM_005263083.5:c.433G>C, XM_005263083.4:c.433G>C, XM_005263083.3:c.433G>C, XM_005263083.2:c.433G>C, XM_005263083.1:c.433G>C, NM_017912.4:c.397G>C, NM_017912.3:c.397G>C, XM_011532053.4:c.433G>C, XM_011532053.3:c.433G>C, XM_011532053.2:c.433G>C, XM_011532053.1:c.433G>C, NM_001165136.2:c.397G>C, NM_001165136.1:c.397G>C, NM_001013002.1:c.397G>C, NM_001013005.1:c.397G>C, NM_001013000.1:c.397G>C, XM_047415867.1:c.433G>C, XP_005263140.1:p.Val145Leu, NP_060382.3:p.Val133Leu, XP_011530355.1:p.Val145Leu, NP_001158608.1:p.Val133Leu, XP_047271823.1:p.Val145Leu

Select item 149045424219.

rs1490454242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:88378797 (GRCh38)
4:89299949 (GRCh37)
Canonical SPDI:: NC_000004.12:88378796:G:A,NC_000004.12:88378796:G:T
Gene:: HERC6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.88378797G>A, NC_000004.12:g.88378797G>T, NC_000004.11:g.89299949G>A, NC_000004.11:g.89299949G>T, NM_017912.3:c.-125G>A, NM_017912.3:c.-125G>T, NM_001165136.1:c.-125G>A, NM_001165136.1:c.-125G>T, NM_001013002.1:c.-125G>A, NM_001013002.1:c.-125G>T, NM_001013005.1:c.-125G>A, NM_001013005.1:c.-125G>T, NM_001013000.1:c.-125G>A, NM_001013000.1:c.-125G>T

Select item 149042501520.

rs1490425015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88379591 (GRCh38)
4:89300743 (GRCh37)
Canonical SPDI:: NC_000004.12:88379590:A:G
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88379591A>G, NC_000004.11:g.89300743A>G

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