SNP Links for Gene (Select 55634) - SNP

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Select item 14915257721.

rs1491525772 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: X:46459326 (GRCh38)
X:46318762 (GRCh37)
Canonical SPDI:: NC_000023.11:46459326::G
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
G=0.00016/2 (GnomAD)
HGVS:: NC_000023.11:g.46459326_46459327insG, NC_000023.10:g.46318761_46318762insG, NG_022935.1:g.17138_17139insG

Select item 14914729722.

rs1491472972 has merged into rs67822042 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: X:46459333 (GRCh38)
X:46318768 (GRCh37)
Canonical SPDI:: NC_000023.11:46459325:AAAAAAAAAAAA:AAAAAAA,NC_000023.11:46459325:AAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:46459325:AAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:46459325:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:46459325:AAAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.2016/761 (1000Genomes)
A=0.275/11 (GENOME_DK)
HGVS:: NC_000023.11:g.46459333_46459337del, NC_000023.11:g.46459335_46459337del, NC_000023.11:g.46459336_46459337del, NC_000023.11:g.46459337del, NC_000023.11:g.46459337dup, NC_000023.10:g.46318768_46318772del, NC_000023.10:g.46318770_46318772del, NC_000023.10:g.46318771_46318772del, NC_000023.10:g.46318772del, NC_000023.10:g.46318772dup, NG_022935.1:g.17145_17149del, NG_022935.1:g.17147_17149del, NG_022935.1:g.17148_17149del, NG_022935.1:g.17149del, NG_022935.1:g.17149dup

Select item 14911829573.

rs1491182957 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: X:46473672 (GRCh38)
X:46333107 (GRCh37)
Canonical SPDI:: NC_000023.11:46473671:TG:
Gene:: KRBOX4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00641/76 (ALFA)
HGVS:: NC_000023.11:g.46473672_46473673del, NC_000023.10:g.46333107_46333108del, NG_022935.1:g.31484_31485del, NM_017776.3:c.*660_*661del, NM_017776.2:c.*660_*661del, NM_001129899.2:c.*923_*924del, NM_001129899.1:c.*923_*924del, NM_001129900.2:c.*923_*924del, NM_001129900.1:c.*923_*924del, NM_001129898.2:c.*660_*661del, NM_001129898.1:c.*660_*661del

Select item 14910326694.

rs1491032669 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: X:46464054 (GRCh38)
X:46323489 (GRCh37)
Canonical SPDI:: NC_000023.11:46464053:TC:
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0009/3 (ALFA)
HGVS:: NC_000023.11:g.46464054_46464055del, NC_000023.10:g.46323489_46323490del, NG_022935.1:g.21866_21867del

Select item 14909989935.

rs1490998993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:46446441 (GRCh38)
X:46305876 (GRCh37)
Canonical SPDI:: NC_000023.11:46446440:C:T
Gene:: KRBOX4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.46446441C>T, NC_000023.10:g.46305876C>T, NG_022935.1:g.4253C>T

Select item 14908461596.

rs1490846159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:46453679 (GRCh38)
X:46313114 (GRCh37)
Canonical SPDI:: NC_000023.11:46453678:T:C
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.46453679T>C, NC_000023.10:g.46313114T>C, NG_006603.2:g.3666A>G, NG_022935.1:g.11491T>C

Select item 14908448527.

rs1490844852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:46447621 (GRCh38)
X:46307056 (GRCh37)
Canonical SPDI:: NC_000023.11:46447620:G:A,NC_000023.11:46447620:G:C
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.46447621G>A, NC_000023.11:g.46447621G>C, NC_000023.10:g.46307056G>A, NC_000023.10:g.46307056G>C, NG_022935.1:g.5433G>A, NG_022935.1:g.5433G>C

Select item 14907774978.

rs1490777497 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: X:46459743 (GRCh38)
X:46319178 (GRCh37)
Canonical SPDI:: NC_000023.11:46459742:G:
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.46459743del, NC_000023.10:g.46319178del, NG_022935.1:g.17555del

Select item 14905092189.

rs1490509218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:46445707 (GRCh38)
X:46305142 (GRCh37)
Canonical SPDI:: NC_000023.11:46445706:T:C
Gene:: KRBOX4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.46445707T>C, NC_000023.10:g.46305142T>C, NG_022935.1:g.3519T>C

Select item 149048558510.

rs1490485585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:46467427 (GRCh38)
X:46326862 (GRCh37)
Canonical SPDI:: NC_000023.11:46467426:C:T
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.46467427C>T, NC_000023.10:g.46326862C>T, NG_022935.1:g.25239C>T

Select item 149041419011.

rs1490414190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:46469091 (GRCh38)
X:46328526 (GRCh37)
Canonical SPDI:: NC_000023.11:46469090:T:C
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.46469091T>C, NC_000023.10:g.46328526T>C, NG_022935.1:g.26903T>C

Select item 149035644012.

rs1490356440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:46447048 (GRCh38)
X:46306483 (GRCh37)
Canonical SPDI:: NC_000023.11:46447047:G:C
Gene:: KRBOX4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.46447048G>C, NC_000023.10:g.46306483G>C, NG_022935.1:g.4860G>C

Select item 149007322413.

rs1490073224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:46471413 (GRCh38)
X:46330848 (GRCh37)
Canonical SPDI:: NC_000023.11:46471412:T:A,NC_000023.11:46471412:T:C
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00407/64 (ALFA)
C=0.00063/8 (TOMMO)
C=0.09925/290 (KOREAN)
HGVS:: NC_000023.11:g.46471413T>A, NC_000023.11:g.46471413T>C, NC_000023.10:g.46330848T>A, NC_000023.10:g.46330848T>C, NG_022935.1:g.29225T>A, NG_022935.1:g.29225T>C

Select item 148999930414.

rs1489999304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:46466541 (GRCh38)
X:46325976 (GRCh37)
Canonical SPDI:: NC_000023.11:46466540:C:T
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.46466541C>T, NC_000023.10:g.46325976C>T, NG_022935.1:g.24353C>T

Select item 148992517115.

rs1489925171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:46468293 (GRCh38)
X:46327728 (GRCh37)
Canonical SPDI:: NC_000023.11:46468292:G:A
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000053/14 (TOPMED)
A=0.000058/6 (GnomAD)
HGVS:: NC_000023.11:g.46468293G>A, NC_000023.10:g.46327728G>A, NG_022935.1:g.26105G>A

Select item 148980887816.

rs1489808878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:46456958 (GRCh38)
X:46316393 (GRCh37)
Canonical SPDI:: NC_000023.11:46456957:G:A
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.46456958G>A, NC_000023.10:g.46316393G>A, NG_006603.2:g.387C>T, NG_022935.1:g.14770G>A

Select item 148942728017.

rs1489427280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:46462754 (GRCh38)
X:46322189 (GRCh37)
Canonical SPDI:: NC_000023.11:46462753:T:C
Gene:: KRBOX4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.46462754T>C, NC_000023.10:g.46322189T>C, NG_022935.1:g.20566T>C, NM_017776.3:c.22T>C, NM_017776.2:c.22T>C, NM_001129899.2:c.22T>C, NM_001129899.1:c.22T>C, NM_001129900.2:c.22T>C, NM_001129900.1:c.22T>C, NM_001129898.2:c.22T>C, NM_001129898.1:c.22T>C

Select item 148888267418.

rs1488882674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:46455157 (GRCh38)
X:46314592 (GRCh37)
Canonical SPDI:: NC_000023.11:46455156:A:G,NC_000023.11:46455156:A:T
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.46455157A>G, NC_000023.11:g.46455157A>T, NC_000023.10:g.46314592A>G, NC_000023.10:g.46314592A>T, NG_006603.2:g.2188T>C, NG_006603.2:g.2188T>A, NG_022935.1:g.12969A>G, NG_022935.1:g.12969A>T

Select item 148879184119.

rs1488791841 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:46465554 (GRCh38)
X:46324989 (GRCh37)
Canonical SPDI:: NC_000023.11:46465553:A:C
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.46465554A>C, NC_000023.10:g.46324989A>C, NG_022935.1:g.23366A>C

Select item 148874174320.

rs1488741743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:46471820 (GRCh38)
X:46331255 (GRCh37)
Canonical SPDI:: NC_000023.11:46471819:C:T
Gene:: KRBOX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.46471820C>T, NC_000023.10:g.46331255C>T, NG_022935.1:g.29632C>T

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