SNP Links for Gene (Select 337978) - SNP

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Select item 14885063151.

rs1488506315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:30747713 (GRCh38)
21:32120031 (GRCh37)
Canonical SPDI:: NC_000021.9:30747712:C:A,NC_000021.9:30747712:C:T
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.30747713C>A, NC_000021.9:g.30747713C>T, NC_000021.8:g.32120031C>A, NC_000021.8:g.32120031C>T

Select item 14870710662.

rs1487071066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:30749068 (GRCh38)
21:32121386 (GRCh37)
Canonical SPDI:: NC_000021.9:30749067:G:A,NC_000021.9:30749067:G:T
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30749068G>A, NC_000021.9:g.30749068G>T, NC_000021.8:g.32121386G>A, NC_000021.8:g.32121386G>T

Select item 14856992073.

rs1485699207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 21:30747405 (GRCh38)
21:32119723 (GRCh37)
Canonical SPDI:: NC_000021.9:30747404:T:C,NC_000021.9:30747404:T:G
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.30747405T>C, NC_000021.9:g.30747405T>G, NC_000021.8:g.32119723T>C, NC_000021.8:g.32119723T>G

Select item 14855976424.

rs1485597642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30746335 (GRCh38)
21:32118653 (GRCh37)
Canonical SPDI:: NC_000021.9:30746334:G:A
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.30746335G>A, NC_000021.8:g.32118653G>A

Select item 14840669945.

rs1484066994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:30748562 (GRCh38)
21:32120880 (GRCh37)
Canonical SPDI:: NC_000021.9:30748561:T:G
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30748562T>G, NC_000021.8:g.32120880T>G

Select item 14813134406.

rs1481313440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:30748792 (GRCh38)
21:32121110 (GRCh37)
Canonical SPDI:: NC_000021.9:30748791:G:A,NC_000021.9:30748791:G:C
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.30748792G>A, NC_000021.9:g.30748792G>C, NC_000021.8:g.32121110G>A, NC_000021.8:g.32121110G>C

Select item 14753158367.

rs1475315836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30748689 (GRCh38)
21:32121007 (GRCh37)
Canonical SPDI:: NC_000021.9:30748688:A:G
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30748689A>G, NC_000021.8:g.32121007A>G

Select item 14749428918.

rs1474942891 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30748619 (GRCh38)
21:32120937 (GRCh37)
Canonical SPDI:: NC_000021.9:30748618:T:C
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.30748619T>C, NC_000021.8:g.32120937T>C

Select item 14741147259.

rs1474114725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30748760 (GRCh38)
21:32121078 (GRCh37)
Canonical SPDI:: NC_000021.9:30748759:T:C
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.30748760T>C, NC_000021.8:g.32121078T>C

Select item 147363517210.

rs1473635172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30748311 (GRCh38)
21:32120629 (GRCh37)
Canonical SPDI:: NC_000021.9:30748310:A:G
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.30748311A>G, NC_000021.8:g.32120629A>G

Select item 147306185411.

rs1473061854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30747261 (GRCh38)
21:32119579 (GRCh37)
Canonical SPDI:: NC_000021.9:30747260:T:C
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30747261T>C, NC_000021.8:g.32119579T>C

Select item 146866704112.

rs1468667041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30746960 (GRCh38)
21:32119278 (GRCh37)
Canonical SPDI:: NC_000021.9:30746959:A:G
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30746960A>G, NC_000021.8:g.32119278A>G, NM_181617.3:c.243T>C, NM_181617.2:c.243T>C, NM_181617.1:c.243T>C

Select item 146739954113.

rs1467399541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:30748961 (GRCh38)
21:32121279 (GRCh37)
Canonical SPDI:: NC_000021.9:30748960:A:C
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: 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.30748961A>C, NC_000021.8:g.32121279A>C

Select item 146719374614.

rs1467193746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30749014 (GRCh38)
21:32121332 (GRCh37)
Canonical SPDI:: NC_000021.9:30749013:C:A
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.30749014C>A, NC_000021.8:g.32121332C>A

Select item 146700946215.

rs1467009462 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 21:30747867 (GRCh38)
21:32120185 (GRCh37)
Canonical SPDI:: NC_000021.9:30747866:T:
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.30747867del, NC_000021.8:g.32120185del

Select item 146541476016.

rs1465414760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:30747284 (GRCh38)
21:32119602 (GRCh37)
Canonical SPDI:: NC_000021.9:30747283:A:T
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30747284A>T, NC_000021.8:g.32119602A>T

Select item 146317225517.

rs1463172255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30746877 (GRCh38)
21:32119195 (GRCh37)
Canonical SPDI:: NC_000021.9:30746876:T:C
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.30746877T>C, NC_000021.8:g.32119195T>C, NM_181617.3:c.*74A>G, NM_181617.2:c.*74A>G

Select item 146252913318.

rs1462529133 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30748708 (GRCh38)
21:32121026 (GRCh37)
Canonical SPDI:: NC_000021.9:30748707:A:G
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30748708A>G, NC_000021.8:g.32121026A>G

Select item 146164165019.

rs1461641650 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 21:30747195 (GRCh38)
21:32119514 (GRCh37)
Canonical SPDI:: NC_000021.9:30747195:AA:AAA
Gene:: KRTAP21-2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30747197dup, NC_000021.8:g.32119515dup, NM_181617.3:c.7dup, NM_181617.2:c.7dup, NM_181617.1:c.7dup, NP_853648.1:p.Cys3fs

Select item 146082223620.

rs1460822236 [Homo sapiens]

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

dbSNP

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