SNP Links for Gene (Select 80311) - SNP

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Select item 14915549141.

rs1491554914 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGCCGCTC [Show Flanks]
Chromosome:: X:24025387 (GRCh38)
X:24043505 (GRCh37)
Canonical SPDI:: NC_000023.11:24025387:GGGGCCGCTC:GGGGCCGCTCGGGGCCGCTC
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGCCGCTCGGGGCCGCTC=0./0 (ALFA)
GGGGCCGCTC=0.000008/2 (TOPMED)
GGGGCCGCTC=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.24025388_24025397dup, NC_000023.10:g.24043505_24043514dup, NG_012625.1:g.6790_6799dup

Select item 14915210732.

rs1491521073 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:24009989 (GRCh38)
X:24028106 (GRCh37)
Canonical SPDI:: NC_000023.11:24009988:CA:
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00136/30 (TOMMO)
HGVS:: NC_000023.11:g.24009989_24009990del, NC_000023.10:g.24028106_24028107del, NG_012625.1:g.22197_22198del

Select item 14914703703.

rs1491470370 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:23995406 (GRCh38)
X:24013523 (GRCh37)
Canonical SPDI:: NC_000023.11:23995405:CA:
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.23995406_23995407del, NC_000023.10:g.24013523_24013524del, NG_012625.1:g.36780_36781del

Select item 14914688224.

rs1491468822 has merged into rs766669649 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:24001812 (GRCh38)
X:24019929 (GRCh37)
Canonical SPDI:: NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000023.11:g.24001812_24001827del, NC_000023.11:g.24001813_24001827del, NC_000023.11:g.24001814_24001827del, NC_000023.11:g.24001816_24001827del, NC_000023.11:g.24001817_24001827del, NC_000023.11:g.24001818_24001827del, NC_000023.11:g.24001819_24001827del, NC_000023.11:g.24001820_24001827del, NC_000023.11:g.24001821_24001827del, NC_000023.11:g.24001822_24001827del, NC_000023.11:g.24001823_24001827del, NC_000023.11:g.24001824_24001827del, NC_000023.11:g.24001825_24001827del, NC_000023.11:g.24001826_24001827del, NC_000023.11:g.24001827del, NC_000023.11:g.24001827dup, NC_000023.11:g.24001826_24001827dup, NC_000023.11:g.24001825_24001827dup, NC_000023.11:g.24001824_24001827dup, NC_000023.11:g.24001823_24001827dup, NC_000023.11:g.24001822_24001827dup, NC_000023.11:g.24001821_24001827dup, NC_000023.11:g.24001820_24001827dup, NC_000023.11:g.24001819_24001827dup, NC_000023.11:g.24001818_24001827dup, NC_000023.11:g.24001814_24001827dup, NC_000023.11:g.24001809_24001827dup, NC_000023.11:g.24001803_24001827dup, NC_000023.11:g.24001827_24001828insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.24001803_24001827A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.24019929_24019944del, NC_000023.10:g.24019930_24019944del, NC_000023.10:g.24019931_24019944del, NC_000023.10:g.24019933_24019944del, NC_000023.10:g.24019934_24019944del, NC_000023.10:g.24019935_24019944del, NC_000023.10:g.24019936_24019944del, NC_000023.10:g.24019937_24019944del, NC_000023.10:g.24019938_24019944del, NC_000023.10:g.24019939_24019944del, NC_000023.10:g.24019940_24019944del, NC_000023.10:g.24019941_24019944del, NC_000023.10:g.24019942_24019944del, NC_000023.10:g.24019943_24019944del, NC_000023.10:g.24019944del, NC_000023.10:g.24019944dup, NC_000023.10:g.24019943_24019944dup, NC_000023.10:g.24019942_24019944dup, NC_000023.10:g.24019941_24019944dup, NC_000023.10:g.24019940_24019944dup, NC_000023.10:g.24019939_24019944dup, NC_000023.10:g.24019938_24019944dup, NC_000023.10:g.24019937_24019944dup, NC_000023.10:g.24019936_24019944dup, NC_000023.10:g.24019935_24019944dup, NC_000023.10:g.24019931_24019944dup, NC_000023.10:g.24019926_24019944dup, NC_000023.10:g.24019920_24019944dup, NC_000023.10:g.24019944_24019945insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.24019920_24019944A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012625.1:g.30369_30384del, NG_012625.1:g.30370_30384del, NG_012625.1:g.30371_30384del, NG_012625.1:g.30373_30384del, NG_012625.1:g.30374_30384del, NG_012625.1:g.30375_30384del, NG_012625.1:g.30376_30384del, NG_012625.1:g.30377_30384del, NG_012625.1:g.30378_30384del, NG_012625.1:g.30379_30384del, NG_012625.1:g.30380_30384del, NG_012625.1:g.30381_30384del, NG_012625.1:g.30382_30384del, NG_012625.1:g.30383_30384del, NG_012625.1:g.30384del, NG_012625.1:g.30384dup, NG_012625.1:g.30383_30384dup, NG_012625.1:g.30382_30384dup, NG_012625.1:g.30381_30384dup, NG_012625.1:g.30380_30384dup, NG_012625.1:g.30379_30384dup, NG_012625.1:g.30378_30384dup, NG_012625.1:g.30377_30384dup, NG_012625.1:g.30376_30384dup, NG_012625.1:g.30375_30384dup, NG_012625.1:g.30371_30384dup, NG_012625.1:g.30366_30384dup, NG_012625.1:g.30360_30384dup, NG_012625.1:g.30384_30385insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012625.1:g.30360_30384T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14913786995.

rs1491378699 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: X:24003648 (GRCh38)
X:24021766 (GRCh37)
Canonical SPDI:: NC_000023.11:24003648:G:GGG
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.24003649_24003650insGG, NC_000023.10:g.24021766_24021767insGG, NG_012625.1:g.28538_28539insCC

Select item 14913775376.

rs1491377537 has merged into rs1173565203 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:24007502 (GRCh38)
X:24025619 (GRCh37)
Canonical SPDI:: NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24007491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.24007502_24007509del, NC_000023.11:g.24007503_24007509del, NC_000023.11:g.24007504_24007509del, NC_000023.11:g.24007505_24007509del, NC_000023.11:g.24007506_24007509del, NC_000023.11:g.24007507_24007509del, NC_000023.11:g.24007508_24007509del, NC_000023.11:g.24007509del, NC_000023.11:g.24007509dup, NC_000023.11:g.24007508_24007509dup, NC_000023.11:g.24007507_24007509dup, NC_000023.11:g.24007506_24007509dup, NC_000023.11:g.24007505_24007509dup, NC_000023.10:g.24025619_24025626del, NC_000023.10:g.24025620_24025626del, NC_000023.10:g.24025621_24025626del, NC_000023.10:g.24025622_24025626del, NC_000023.10:g.24025623_24025626del, NC_000023.10:g.24025624_24025626del, NC_000023.10:g.24025625_24025626del, NC_000023.10:g.24025626del, NC_000023.10:g.24025626dup, NC_000023.10:g.24025625_24025626dup, NC_000023.10:g.24025624_24025626dup, NC_000023.10:g.24025623_24025626dup, NC_000023.10:g.24025622_24025626dup, NG_012625.1:g.24688_24695del, NG_012625.1:g.24689_24695del, NG_012625.1:g.24690_24695del, NG_012625.1:g.24691_24695del, NG_012625.1:g.24692_24695del, NG_012625.1:g.24693_24695del, NG_012625.1:g.24694_24695del, NG_012625.1:g.24695del, NG_012625.1:g.24695dup, NG_012625.1:g.24694_24695dup, NG_012625.1:g.24693_24695dup, NG_012625.1:g.24692_24695dup, NG_012625.1:g.24691_24695dup

Select item 14913512167.

rs1491351216 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:24001802 (GRCh38)
X:24019919 (GRCh37)
Canonical SPDI:: NC_000023.11:24001801:CA:
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00177/21 (ALFA)
-=0.00666/32 (1000Genomes)
-=0.00833/111 (GnomAD)
-=0.00971/106 (TOMMO)
HGVS:: NC_000023.11:g.24001802_24001803del, NC_000023.10:g.24019919_24019920del, NG_012625.1:g.30384_30385del

Select item 14912571628.

rs1491257162 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: X:24001803 (GRCh38)
X:24019921 (GRCh37)
Canonical SPDI:: NC_000023.11:24001803:A:ATA
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.24001804_24001805insTA, NC_000023.10:g.24019921_24019922insTA, NG_012625.1:g.30383_30384insAT

Select item 14912562689.

rs1491256268 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: X:24019644 (GRCh38)
X:24037761 (GRCh37)
Canonical SPDI:: NC_000023.11:24019643:AA:
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.24019644_24019645del, NC_000023.10:g.24037761_24037762del, NG_012625.1:g.12542_12543del

Select item 149122409610.

rs1491224096 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:24007491 (GRCh38)
X:24025608 (GRCh37)
Canonical SPDI:: NC_000023.11:24007490:CA:
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000023.11:g.24007491_24007492del, NC_000023.10:g.24025608_24025609del, NG_012625.1:g.24695_24696del

Select item 149119730611.

rs1491197306 has merged into rs766669649 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:24001812 (GRCh38)
X:24019929 (GRCh37)
Canonical SPDI:: NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24001802:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000023.11:g.24001812_24001827del, NC_000023.11:g.24001813_24001827del, NC_000023.11:g.24001814_24001827del, NC_000023.11:g.24001816_24001827del, NC_000023.11:g.24001817_24001827del, NC_000023.11:g.24001818_24001827del, NC_000023.11:g.24001819_24001827del, NC_000023.11:g.24001820_24001827del, NC_000023.11:g.24001821_24001827del, NC_000023.11:g.24001822_24001827del, NC_000023.11:g.24001823_24001827del, NC_000023.11:g.24001824_24001827del, NC_000023.11:g.24001825_24001827del, NC_000023.11:g.24001826_24001827del, NC_000023.11:g.24001827del, NC_000023.11:g.24001827dup, NC_000023.11:g.24001826_24001827dup, NC_000023.11:g.24001825_24001827dup, NC_000023.11:g.24001824_24001827dup, NC_000023.11:g.24001823_24001827dup, NC_000023.11:g.24001822_24001827dup, NC_000023.11:g.24001821_24001827dup, NC_000023.11:g.24001820_24001827dup, NC_000023.11:g.24001819_24001827dup, NC_000023.11:g.24001818_24001827dup, NC_000023.11:g.24001814_24001827dup, NC_000023.11:g.24001809_24001827dup, NC_000023.11:g.24001803_24001827dup, NC_000023.11:g.24001827_24001828insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.24001803_24001827A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.24019929_24019944del, NC_000023.10:g.24019930_24019944del, NC_000023.10:g.24019931_24019944del, NC_000023.10:g.24019933_24019944del, NC_000023.10:g.24019934_24019944del, NC_000023.10:g.24019935_24019944del, NC_000023.10:g.24019936_24019944del, NC_000023.10:g.24019937_24019944del, NC_000023.10:g.24019938_24019944del, NC_000023.10:g.24019939_24019944del, NC_000023.10:g.24019940_24019944del, NC_000023.10:g.24019941_24019944del, NC_000023.10:g.24019942_24019944del, NC_000023.10:g.24019943_24019944del, NC_000023.10:g.24019944del, NC_000023.10:g.24019944dup, NC_000023.10:g.24019943_24019944dup, NC_000023.10:g.24019942_24019944dup, NC_000023.10:g.24019941_24019944dup, NC_000023.10:g.24019940_24019944dup, NC_000023.10:g.24019939_24019944dup, NC_000023.10:g.24019938_24019944dup, NC_000023.10:g.24019937_24019944dup, NC_000023.10:g.24019936_24019944dup, NC_000023.10:g.24019935_24019944dup, NC_000023.10:g.24019931_24019944dup, NC_000023.10:g.24019926_24019944dup, NC_000023.10:g.24019920_24019944dup, NC_000023.10:g.24019944_24019945insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.24019920_24019944A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012625.1:g.30369_30384del, NG_012625.1:g.30370_30384del, NG_012625.1:g.30371_30384del, NG_012625.1:g.30373_30384del, NG_012625.1:g.30374_30384del, NG_012625.1:g.30375_30384del, NG_012625.1:g.30376_30384del, NG_012625.1:g.30377_30384del, NG_012625.1:g.30378_30384del, NG_012625.1:g.30379_30384del, NG_012625.1:g.30380_30384del, NG_012625.1:g.30381_30384del, NG_012625.1:g.30382_30384del, NG_012625.1:g.30383_30384del, NG_012625.1:g.30384del, NG_012625.1:g.30384dup, NG_012625.1:g.30383_30384dup, NG_012625.1:g.30382_30384dup, NG_012625.1:g.30381_30384dup, NG_012625.1:g.30380_30384dup, NG_012625.1:g.30379_30384dup, NG_012625.1:g.30378_30384dup, NG_012625.1:g.30377_30384dup, NG_012625.1:g.30376_30384dup, NG_012625.1:g.30375_30384dup, NG_012625.1:g.30371_30384dup, NG_012625.1:g.30366_30384dup, NG_012625.1:g.30360_30384dup, NG_012625.1:g.30384_30385insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012625.1:g.30360_30384T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149115788812.

rs1491157888 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: X:24007925 (GRCh38)
X:24026042 (GRCh37)
Canonical SPDI:: NC_000023.11:24007924:GA:
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00162/6 (TWINSUK)
-=0.00208/6 (ALSPAC)
HGVS:: NC_000023.11:g.24007925_24007926del, NC_000023.10:g.24026042_24026043del, NG_012625.1:g.24261_24262del

Select item 149113612113.

rs1491136121 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: X:24025390 (GRCh38)
X:24043507 (GRCh37)
Canonical SPDI:: NC_000023.11:24025386:GGGGG:GGG
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000142/2 (ALFA)
-=0.00001/1 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.24025390_24025391del, NC_000023.10:g.24043507_24043508del, NG_012625.1:g.6799_6800del

Select item 149111919214.

rs1491119192 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:24017779 (GRCh38)
X:24035896 (GRCh37)
Canonical SPDI:: NC_000023.11:24017778:CA:
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.24017779_24017780del, NC_000023.10:g.24035896_24035897del, NG_012625.1:g.14407_14408del

Select item 149111682315.

rs1491116823 has merged into rs767433599 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:24009998 (GRCh38)
X:24028115 (GRCh37)
Canonical SPDI:: NC_000023.11:24009989:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000023.11:24009989:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:24009989:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:24009989:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:24009989:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:24009989:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:24009989:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:24009989:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:24009989:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:24009989:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AA=0./0 (ALSPAC)
AA=0.0003/1 (TWINSUK)
A=0.3989/1506 (1000Genomes)
HGVS:: NC_000023.11:g.24009998_24010008del, NC_000023.11:g.24010001_24010008del, NC_000023.11:g.24010003_24010008del, NC_000023.11:g.24010004_24010008del, NC_000023.11:g.24010005_24010008del, NC_000023.11:g.24010006_24010008del, NC_000023.11:g.24010007_24010008del, NC_000023.11:g.24010008del, NC_000023.11:g.24010008dup, NC_000023.11:g.24010007_24010008dup, NC_000023.10:g.24028115_24028125del, NC_000023.10:g.24028118_24028125del, NC_000023.10:g.24028120_24028125del, NC_000023.10:g.24028121_24028125del, NC_000023.10:g.24028122_24028125del, NC_000023.10:g.24028123_24028125del, NC_000023.10:g.24028124_24028125del, NC_000023.10:g.24028125del, NC_000023.10:g.24028125dup, NC_000023.10:g.24028124_24028125dup, NG_012625.1:g.22187_22197del, NG_012625.1:g.22190_22197del, NG_012625.1:g.22192_22197del, NG_012625.1:g.22193_22197del, NG_012625.1:g.22194_22197del, NG_012625.1:g.22195_22197del, NG_012625.1:g.22196_22197del, NG_012625.1:g.22197del, NG_012625.1:g.22197dup, NG_012625.1:g.22196_22197dup

Select item 149110926216.

rs1491109262 has merged into rs748388349 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:24009696 (GRCh38)
X:24027813 (GRCh37)
Canonical SPDI:: NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:24009686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000023.11:g.24009696_24009708del, NC_000023.11:g.24009697_24009708del, NC_000023.11:g.24009698_24009708del, NC_000023.11:g.24009699_24009708del, NC_000023.11:g.24009700_24009708del, NC_000023.11:g.24009701_24009708del, NC_000023.11:g.24009702_24009708del, NC_000023.11:g.24009703_24009708del, NC_000023.11:g.24009704_24009708del, NC_000023.11:g.24009705_24009708del, NC_000023.11:g.24009706_24009708del, NC_000023.11:g.24009707_24009708del, NC_000023.11:g.24009708del, NC_000023.11:g.24009708dup, NC_000023.11:g.24009707_24009708dup, NC_000023.11:g.24009706_24009708dup, NC_000023.10:g.24027813_24027825del, NC_000023.10:g.24027814_24027825del, NC_000023.10:g.24027815_24027825del, NC_000023.10:g.24027816_24027825del, NC_000023.10:g.24027817_24027825del, NC_000023.10:g.24027818_24027825del, NC_000023.10:g.24027819_24027825del, NC_000023.10:g.24027820_24027825del, NC_000023.10:g.24027821_24027825del, NC_000023.10:g.24027822_24027825del, NC_000023.10:g.24027823_24027825del, NC_000023.10:g.24027824_24027825del, NC_000023.10:g.24027825del, NC_000023.10:g.24027825dup, NC_000023.10:g.24027824_24027825dup, NC_000023.10:g.24027823_24027825dup, NG_012625.1:g.22488_22500del, NG_012625.1:g.22489_22500del, NG_012625.1:g.22490_22500del, NG_012625.1:g.22491_22500del, NG_012625.1:g.22492_22500del, NG_012625.1:g.22493_22500del, NG_012625.1:g.22494_22500del, NG_012625.1:g.22495_22500del, NG_012625.1:g.22496_22500del, NG_012625.1:g.22497_22500del, NG_012625.1:g.22498_22500del, NG_012625.1:g.22499_22500del, NG_012625.1:g.22500del, NG_012625.1:g.22500dup, NG_012625.1:g.22499_22500dup, NG_012625.1:g.22498_22500dup

Select item 149110013117.

rs1491100131 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:24009686 (GRCh38)
X:24027803 (GRCh37)
Canonical SPDI:: NC_000023.11:24009685:CA:
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000023.11:g.24009686_24009687del, NC_000023.10:g.24027803_24027804del, NG_012625.1:g.22500_22501del

Select item 149105835718.

rs1491058357 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAC,AAC,AC [Show Flanks]
Chromosome:: X:24008888 (GRCh38)
X:24027006 (GRCh37)
Canonical SPDI:: NC_000023.11:24008888::AAAC,NC_000023.11:24008888::AAC,NC_000023.11:24008888::AC
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAC=0./0 (ALFA)
AC=0.00021/1 (1000Genomes)
HGVS:: NC_000023.11:g.24008888_24008889insAAAC, NC_000023.11:g.24008888_24008889insAAC, NC_000023.11:g.24008888_24008889insAC, NC_000023.10:g.24027005_24027006insAAAC, NC_000023.10:g.24027005_24027006insAAC, NC_000023.10:g.24027005_24027006insAC, NG_012625.1:g.23298_23299insGTTT, NG_012625.1:g.23298_23299insGTT, NG_012625.1:g.23298_23299insGT

Select item 149105277819.

rs1491052778 has merged into rs35278201 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: X:23991366 (GRCh38)
X:24009483 (GRCh37)
Canonical SPDI:: NC_000023.11:23991353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:23991353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:23991353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:23991353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:23991353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:23991353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:23991353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:23991353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.29219/1103 (1000Genomes)
HGVS:: NC_000023.11:g.23991366_23991371del, NC_000023.11:g.23991369_23991371del, NC_000023.11:g.23991370_23991371del, NC_000023.11:g.23991371del, NC_000023.11:g.23991371dup, NC_000023.11:g.23991370_23991371dup, NC_000023.11:g.23991369_23991371dup, NC_000023.11:g.23991368_23991371dup, NC_000023.10:g.24009483_24009488del, NC_000023.10:g.24009486_24009488del, NC_000023.10:g.24009487_24009488del, NC_000023.10:g.24009488del, NC_000023.10:g.24009488dup, NC_000023.10:g.24009487_24009488dup, NC_000023.10:g.24009486_24009488dup, NC_000023.10:g.24009485_24009488dup, NG_012625.1:g.40828_40833del, NG_012625.1:g.40831_40833del, NG_012625.1:g.40832_40833del, NG_012625.1:g.40833del, NG_012625.1:g.40833dup, NG_012625.1:g.40832_40833dup, NG_012625.1:g.40831_40833dup, NG_012625.1:g.40830_40833dup

Select item 149105184720.

rs1491051847 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:23991347 (GRCh38)
X:24009465 (GRCh37)
Canonical SPDI:: NC_000023.11:23991347:T:TT
Gene:: KLHL15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.23991348dup, NC_000023.10:g.24009465dup, NG_012625.1:g.40839dup

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