SNP Links for Gene (Select 337973) - SNP

Links from Gene

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Select item 14902174611.

rs1490217461 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 21:30541672 (GRCh38)
21:31913992 (GRCh37)
Canonical SPDI:: NC_000021.9:30541672:AA:AAA
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000021.9:g.30541674dup, NC_000021.8:g.31913993dup, NM_181612.3:c.161dup, NM_181612.2:c.161dup, NP_853643.1:p.Ser55fs

Select item 14900366882.

rs1490036688 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30542755 (GRCh38)
21:31915074 (GRCh37)
Canonical SPDI:: NC_000021.9:30542754:A:G
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.30542755A>G, NC_000021.8:g.31915074A>G

Select item 14887590213.

rs1488759021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:30543382 (GRCh38)
21:31915701 (GRCh37)
Canonical SPDI:: NC_000021.9:30543381:T:A
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.30543382T>A, NC_000021.8:g.31915701T>A

Select item 14880975704.

rs1488097570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30542283 (GRCh38)
21:31914602 (GRCh37)
Canonical SPDI:: NC_000021.9:30542282:G:A
Gene:: KRTAP19-6 (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.30542283G>A, NC_000021.8:g.31914602G>A

Select item 14879853585.

rs1487985358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:30541169 (GRCh38)
21:31913488 (GRCh37)
Canonical SPDI:: NC_000021.9:30541168:C:A,NC_000021.9:30541168:C:T
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000021.9:g.30541169C>A, NC_000021.9:g.30541169C>T, NC_000021.8:g.31913488C>A, NC_000021.8:g.31913488C>T

Select item 14874276276.

rs1487427627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30542017 (GRCh38)
21:31914336 (GRCh37)
Canonical SPDI:: NC_000021.9:30542016:C:T
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.30542017C>T, NC_000021.8:g.31914336C>T

Select item 14871170217.

rs1487117021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:30542822 (GRCh38)
21:31915141 (GRCh37)
Canonical SPDI:: NC_000021.9:30542821:C:G
Gene:: KRTAP19-6 (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.30542822C>G, NC_000021.8:g.31915141C>G

Select item 14866002128.

rs1486600212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30541391 (GRCh38)
21:31913710 (GRCh37)
Canonical SPDI:: NC_000021.9:30541390:C:A
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.30541391C>A, NC_000021.8:g.31913710C>A

Select item 14862558139.

rs1486255813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30541110 (GRCh38)
21:31913429 (GRCh37)
Canonical SPDI:: NC_000021.9:30541109:A:G
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.30541110A>G, NC_000021.8:g.31913429A>G

Select item 148561610410.

rs1485616104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30543602 (GRCh38)
21:31915921 (GRCh37)
Canonical SPDI:: NC_000021.9:30543601:T:C
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30543602T>C, NC_000021.8:g.31915921T>C

Select item 148316382011.

rs1483163820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30541065 (GRCh38)
21:31913384 (GRCh37)
Canonical SPDI:: NC_000021.9:30541064:T:C
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30541065T>C, NC_000021.8:g.31913384T>C

Select item 147822892912.

rs1478228929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30542264 (GRCh38)
21:31914583 (GRCh37)
Canonical SPDI:: NC_000021.9:30542263:C:T
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.30542264C>T, NC_000021.8:g.31914583C>T

Select item 147756956613.

rs1477569566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:30541280 (GRCh38)
21:31913599 (GRCh37)
Canonical SPDI:: NC_000021.9:30541279:T:G
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/1 (GnomAD)
HGVS:: NC_000021.9:g.30541280T>G, NC_000021.8:g.31913599T>G

Select item 147659438914.

rs1476594389 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30541745 (GRCh38)
21:31914064 (GRCh37)
Canonical SPDI:: NC_000021.9:30541744:T:C
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.30541745T>C, NC_000021.8:g.31914064T>C, NM_181612.3:c.89A>G, NM_181612.2:c.89A>G, NP_853643.1:p.Tyr30Cys

Select item 147654271115.

rs1476542711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30542924 (GRCh38)
21:31915243 (GRCh37)
Canonical SPDI:: NC_000021.9:30542923:C:T
Gene:: KRTAP19-6 (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)
T=0.000342/1 (KOREAN)
HGVS:: NC_000021.9:g.30542924C>T, NC_000021.8:g.31915243C>T

Select item 147510535616.

rs1475105356 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 21:30542408 (GRCh38)
21:31914727 (GRCh37)
Canonical SPDI:: NC_000021.9:30542407:AAA:AA
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000021.9:g.30542410del, NC_000021.8:g.31914729del

Select item 147463159817.

rs1474631598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:30543375 (GRCh38)
21:31915694 (GRCh37)
Canonical SPDI:: NC_000021.9:30543374:C:A,NC_000021.9:30543374:C:T
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.30543375C>A, NC_000021.9:g.30543375C>T, NC_000021.8:g.31915694C>A, NC_000021.8:g.31915694C>T

Select item 147430590718.

rs1474305907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30541969 (GRCh38)
21:31914288 (GRCh37)
Canonical SPDI:: NC_000021.9:30541968:C:T
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000162/3 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000021.9:g.30541969C>T, NC_000021.8:g.31914288C>T

Select item 146694941319.

rs1466949413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:30541043 (GRCh38)
21:31913362 (GRCh37)
Canonical SPDI:: NC_000021.9:30541042:C:G
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000021.9:g.30541043C>G, NC_000021.8:g.31913362C>G

Select item 146189826320.

rs1461898263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30541360 (GRCh38)
21:31913679 (GRCh37)
Canonical SPDI:: NC_000021.9:30541359:A:G
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.30541360A>G, NC_000021.8:g.31913679A>G

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