SNP Links for Gene (Select 100288323) - SNP

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Select item 14914033321.

rs1491403332 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 21:30718025 (GRCh38)
21:32090343 (GRCh37)
Canonical SPDI:: NC_000021.9:30718024:GA:
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000016/2 (GnomAD)
-=0.000035/1 (TOMMO)
-=0.000468/3 (1000Genomes)
-=0.000565/1 (Korea1K)
HGVS:: NC_000021.9:g.30718025_30718026del, NC_000021.8:g.32090343_32090344del

Select item 14912540642.

rs1491254064 has merged into rs58979324 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 21:30718037 (GRCh38)
21:32090355 (GRCh37)
Canonical SPDI:: NC_000021.9:30718025:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:30718025:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:30718025:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:30718025:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:30718025:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0472/175 (TWINSUK)
-=0.05215/201 (ALSPAC)
-=0.27476/1376 (1000Genomes)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000021.9:g.30718037_30718039del, NC_000021.9:g.30718038_30718039del, NC_000021.9:g.30718039del, NC_000021.9:g.30718039dup, NC_000021.9:g.30718038_30718039dup, NC_000021.8:g.32090355_32090357del, NC_000021.8:g.32090356_32090357del, NC_000021.8:g.32090357del, NC_000021.8:g.32090357dup, NC_000021.8:g.32090356_32090357dup

Select item 14897947713.

rs1489794771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30718525 (GRCh38)
21:32090843 (GRCh37)
Canonical SPDI:: NC_000021.9:30718524:A:G
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000021.9:g.30718525A>G, NC_000021.8:g.32090843A>G, NM_001164435.1:c.*58T>C

Select item 14894385354.

rs1489438535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30720497 (GRCh38)
21:32092815 (GRCh37)
Canonical SPDI:: NC_000021.9:30720496:C:A
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30720497C>A, NC_000021.8:g.32092815C>A

Select item 14887744245.

rs1488774424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30719816 (GRCh38)
21:32092134 (GRCh37)
Canonical SPDI:: NC_000021.9:30719815:T:C
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30719816T>C, NC_000021.8:g.32092134T>C

Select item 14885402616.

rs1488540261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30720286 (GRCh38)
21:32092604 (GRCh37)
Canonical SPDI:: NC_000021.9:30720285:T:C
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30720286T>C, NC_000021.8:g.32092604T>C

Select item 14884279627.

rs1488427962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 21:30719717 (GRCh38)
21:32092035 (GRCh37)
Canonical SPDI:: NC_000021.9:30719716:A:G,NC_000021.9:30719716:A:T
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000021.9:g.30719717A>G, NC_000021.9:g.30719717A>T, NC_000021.8:g.32092035A>G, NC_000021.8:g.32092035A>T

Select item 14881238498.

rs1488123849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30718676 (GRCh38)
21:32090994 (GRCh37)
Canonical SPDI:: NC_000021.9:30718675:G:A
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30718676G>A, NC_000021.8:g.32090994G>A, NM_001164435.1:c.84C>T

Select item 14879349819.

rs1487934981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30719108 (GRCh38)
21:32091426 (GRCh37)
Canonical SPDI:: NC_000021.9:30719107:G:A
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30719108G>A, NC_000021.8:g.32091426G>A

Select item 148713928110.

rs1487139281 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 21:30719248 (GRCh38)
21:32091566 (GRCh37)
Canonical SPDI:: NC_000021.9:30719247:AT:
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000021.9:g.30719248_30719249del, NC_000021.8:g.32091566_32091567del

Select item 148648753511.

rs1486487535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30718025 (GRCh38)
21:32090343 (GRCh37)
Canonical SPDI:: NC_000021.9:30718024:G:A
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00063/10 (ALFA)
HGVS:: NC_000021.9:g.30718025G>A, NC_000021.8:g.32090343G>A

Select item 148577776312.

rs1485777763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30719644 (GRCh38)
21:32091962 (GRCh37)
Canonical SPDI:: NC_000021.9:30719643:G:A
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000021.9:g.30719644G>A, NC_000021.8:g.32091962G>A

Select item 148221676113.

rs1482216761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30720121 (GRCh38)
21:32092439 (GRCh37)
Canonical SPDI:: NC_000021.9:30720120:C:T
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30720121C>T, NC_000021.8:g.32092439C>T

Select item 148212357414.

rs1482123574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30718818 (GRCh38)
21:32091136 (GRCh37)
Canonical SPDI:: NC_000021.9:30718817:G:A
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.30718818G>A, NC_000021.8:g.32091136G>A

Select item 147901815915.

rs1479018159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:30719806 (GRCh38)
21:32092124 (GRCh37)
Canonical SPDI:: NC_000021.9:30719805:T:A
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000021.9:g.30719806T>A, NC_000021.8:g.32092124T>A

Select item 147860301316.

rs1478603013 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTAA>- [Show Flanks]
Chromosome:: 21:30718211 (GRCh38)
21:32090529 (GRCh37)
Canonical SPDI:: NC_000021.9:30718208:AATTAA:AA
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30718211_30718214del, NC_000021.8:g.32090529_32090532del

Select item 147830267917.

rs1478302679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30719217 (GRCh38)
21:32091535 (GRCh37)
Canonical SPDI:: NC_000021.9:30719216:G:A
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.30719217G>A, NC_000021.8:g.32091535G>A

Select item 147789800018.

rs1477898000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30719409 (GRCh38)
21:32091727 (GRCh37)
Canonical SPDI:: NC_000021.9:30719408:C:T
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000021.9:g.30719409C>T, NC_000021.8:g.32091727C>T

Select item 147760385919.

rs1477603859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:30718786 (GRCh38)
21:32091104 (GRCh37)
Canonical SPDI:: NC_000021.9:30718785:G:A,NC_000021.9:30718785:G:T
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.30718786G>A, NC_000021.9:g.30718786G>T, NC_000021.8:g.32091104G>A, NC_000021.8:g.32091104G>T

Select item 147386647020.

rs1473866470 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 21:30720562 (GRCh38)
21:32092881 (GRCh37)
Canonical SPDI:: NC_000021.9:30720562:AT:ATAT
Gene:: KRTAP21-3 (Varview), LOC105372773 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: AT=0.000008/1 (GnomAD)
HGVS:: NC_000021.9:g.30720563_30720564dup, NC_000021.8:g.32092881_32092882dup

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