SNP Links for Gene (Select 337985) - SNP

Links from Gene

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Select item 14909677251.

rs1490967725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30641545 (GRCh38)
21:32013864 (GRCh37)
Canonical SPDI:: NC_000021.9:30641544:A:G
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000021.9:g.30641545A>G, NC_000021.8:g.32013864A>G

Select item 14898217482.

rs1489821748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30642713 (GRCh38)
21:32015032 (GRCh37)
Canonical SPDI:: NC_000021.9:30642712:C:A
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30642713C>A, NC_000021.8:g.32015032C>A

Select item 14890597743.

rs1489059774 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTGGGGGGTGG [Show Flanks]
Chromosome:: 21:30643015 (GRCh38)
21:32015335 (GRCh37)
Canonical SPDI:: NC_000021.9:30643015::TTGGGGGGTGG
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000021.9:g.30643015_30643016insTTGGGGGGTGG, NC_000021.8:g.32015334_32015335insTTGGGGGGTGG, NM_001128077.1:c.127_128insTTGGGGGGTGG, NP_001121549.1:p.Trp43fs

Select item 14866105184.

rs1486610518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30643209 (GRCh38)
21:32015528 (GRCh37)
Canonical SPDI:: NC_000021.9:30643208:G:A
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.30643209G>A, NC_000021.8:g.32015528G>A

Select item 14849860155.

rs1484986015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30641640 (GRCh38)
21:32013959 (GRCh37)
Canonical SPDI:: NC_000021.9:30641639:G:A
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.30641640G>A, NC_000021.8:g.32013959G>A

Select item 14833319836.

rs1483331983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30642159 (GRCh38)
21:32014478 (GRCh37)
Canonical SPDI:: NC_000021.9:30642158:A:G
Gene:: KRTAP20-3 (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.30642159A>G, NC_000021.8:g.32014478A>G

Select item 14794333257.

rs1479433325 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30642501 (GRCh38)
21:32014820 (GRCh37)
Canonical SPDI:: NC_000021.9:30642500:A:G
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000447/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000021.9:g.30642501A>G, NC_000021.8:g.32014820A>G

Select item 14793832978.

rs1479383297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:30642842 (GRCh38)
21:32015161 (GRCh37)
Canonical SPDI:: NC_000021.9:30642841:T:A
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000021.9:g.30642842T>A, NC_000021.8:g.32015161T>A

Select item 14780817719.

rs1478081771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:30643025 (GRCh38)
21:32015344 (GRCh37)
Canonical SPDI:: NC_000021.9:30643024:T:G
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30643025T>G, NC_000021.8:g.32015344T>G, NM_001128077.1:c.*2T>G

Select item 147614235310.

rs1476142353 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAA>- [Show Flanks]
Chromosome:: 21:30642213 (GRCh38)
21:32014532 (GRCh37)
Canonical SPDI:: NC_000021.9:30642209:AAAGAAA:AAA
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000248/4 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000021.9:g.30642213_30642216del, NC_000021.8:g.32014532_32014535del

Select item 147519560411.

rs1475195604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30641610 (GRCh38)
21:32013929 (GRCh37)
Canonical SPDI:: NC_000021.9:30641609:T:C
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: 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.30641610T>C, NC_000021.8:g.32013929T>C

Select item 147452049812.

rs1474520498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30642803 (GRCh38)
21:32015122 (GRCh37)
Canonical SPDI:: NC_000021.9:30642802:G:A
Gene:: KRTAP20-3 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30642803G>A, NC_000021.8:g.32015122G>A

Select item 147260510913.

rs1472605109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30641239 (GRCh38)
21:32013558 (GRCh37)
Canonical SPDI:: NC_000021.9:30641238:C:T
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: 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.30641239C>T, NC_000021.8:g.32013558C>T

Select item 147114860814.

rs1471148608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:30640980 (GRCh38)
21:32013299 (GRCh37)
Canonical SPDI:: NC_000021.9:30640979:C:G,NC_000021.9:30640979:C:T
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.30640980C>G, NC_000021.9:g.30640980C>T, NC_000021.8:g.32013299C>G, NC_000021.8:g.32013299C>T

Select item 146999109215.

rs1469991092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30642284 (GRCh38)
21:32014603 (GRCh37)
Canonical SPDI:: NC_000021.9:30642283:C:T
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.30642284C>T, NC_000021.8:g.32014603C>T

Select item 146889429516.

rs1468894295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30641616 (GRCh38)
21:32013935 (GRCh37)
Canonical SPDI:: NC_000021.9:30641615:T:C
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000671/3 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000021.9:g.30641616T>C, NC_000021.8:g.32013935T>C

Select item 146864134417.

rs1468641344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30642838 (GRCh38)
21:32015157 (GRCh37)
Canonical SPDI:: NC_000021.9:30642837:G:A
Gene:: KRTAP20-3 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30642838G>A, NC_000021.8:g.32015157G>A

Select item 146656107418.

rs1466561074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30640992 (GRCh38)
21:32013311 (GRCh37)
Canonical SPDI:: NC_000021.9:30640991:A:G
Gene:: KRTAP20-3 (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.30640992A>G, NC_000021.8:g.32013311A>G

Select item 146644854219.

rs1466448542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30643343 (GRCh38)
21:32015662 (GRCh37)
Canonical SPDI:: NC_000021.9:30643342:G:A
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000021.9:g.30643343G>A, NC_000021.8:g.32015662G>A

Select item 146266963520.

rs1462669635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30642236 (GRCh38)
21:32014555 (GRCh37)
Canonical SPDI:: NC_000021.9:30642235:A:G
Gene:: KRTAP20-3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000021.9:g.30642236A>G, NC_000021.8:g.32014555A>G

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