SNP Links for Gene (Select 83897) - SNP

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Select item 14903023911.

rs1490302391 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGT>- [Show Flanks]
Chromosome:: 17:41000511 (GRCh38)
17:39156763 (GRCh37)
Canonical SPDI:: NC_000017.11:41000507:TGTTGT:TGT
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41000508TGT[1], NC_000017.10:g.39156760TGT[1], NW_003871091.1:g.149903TGT[1]

Select item 14902771382.

rs1490277138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40999617 (GRCh38)
17:39155869 (GRCh37)
Canonical SPDI:: NC_000017.11:40999616:G:A
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.40999617G>A, NC_000017.10:g.39155869G>A, NW_003871091.1:g.149012G>A, NM_031959.3:c.237C>T, NM_031959.2:c.237C>T

Select item 14898129833.

rs1489812983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41001031 (GRCh38)
17:39157283 (GRCh37)
Canonical SPDI:: NC_000017.11:41001030:A:G
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.41001031A>G, NC_000017.10:g.39157283A>G, NW_003871091.1:g.150426A>G

Select item 14894207584.

rs1489420758 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41001149 (GRCh38)
17:39157401 (GRCh37)
Canonical SPDI:: NC_000017.11:41001148:A:G
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41001149A>G, NC_000017.10:g.39157401A>G, NW_003871091.1:g.150544A>G

Select item 14888007375.

rs1488800737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:41000412 (GRCh38)
17:39156664 (GRCh37)
Canonical SPDI:: NC_000017.11:41000411:A:T
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41000412A>T, NC_000017.10:g.39156664A>T, NW_003871091.1:g.149807A>T

Select item 14884651836.

rs1488465183 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:41001446 (GRCh38)
17:39157698 (GRCh37)
Canonical SPDI:: NC_000017.11:41001444:ATA:A
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41001446_41001447del, NC_000017.10:g.39157698_39157699del, NW_003871091.1:g.150841_150842del

Select item 14884428357.

rs1488442835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41000083 (GRCh38)
17:39156335 (GRCh37)
Canonical SPDI:: NC_000017.11:41000082:C:T
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41000083C>T, NC_000017.10:g.39156335C>T, NW_003871091.1:g.149478C>T

Select item 14878368828.

rs1487836882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41001484 (GRCh38)
17:39157736 (GRCh37)
Canonical SPDI:: NC_000017.11:41001483:G:A
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.41001484G>A, NC_000017.10:g.39157736G>A, NW_003871091.1:g.150879G>A

Select item 14873191039.

rs1487319103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40999287 (GRCh38)
17:39155539 (GRCh37)
Canonical SPDI:: NC_000017.11:40999286:A:G
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000671/3 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00067/3 (Estonian)
HGVS:: NC_000017.11:g.40999287A>G, NC_000017.10:g.39155539A>G, NW_003871091.1:g.148682A>G, NM_031959.3:c.*270T>C, NM_031959.2:c.*270T>C

Select item 148696937810.

rs1486969378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40999107 (GRCh38)
17:39155359 (GRCh37)
Canonical SPDI:: NC_000017.11:40999106:T:C
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40999107T>C, NC_000017.10:g.39155359T>C, NW_003871091.1:g.148502T>C

Select item 148441837211.

rs1484418372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:41001360 (GRCh38)
17:39157612 (GRCh37)
Canonical SPDI:: NC_000017.11:41001359:T:G
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.41001360T>G, NC_000017.10:g.39157612T>G, NW_003871091.1:g.150755T>G

Select item 148436364612.

rs1484363646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41000334 (GRCh38)
17:39156586 (GRCh37)
Canonical SPDI:: NC_000017.11:41000333:G:A
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.41000334G>A, NC_000017.10:g.39156586G>A, NW_003871091.1:g.149729G>A

Select item 148369421313.

rs1483694213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41000947 (GRCh38)
17:39157199 (GRCh37)
Canonical SPDI:: NC_000017.11:41000946:C:G
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41000947C>G, NC_000017.10:g.39157199C>G, NW_003871091.1:g.150342C>G

Select item 148351239114.

rs1483512391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:40999867 (GRCh38)
17:39156119 (GRCh37)
Canonical SPDI:: NC_000017.11:40999866:T:A
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40999867T>A, NC_000017.10:g.39156119T>A, NW_003871091.1:g.149262T>A, NM_031959.3:c.-14A>T, NM_031959.2:c.-14A>T

Select item 148345800415.

rs1483458004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:40998828 (GRCh38)
17:39155080 (GRCh37)
Canonical SPDI:: NC_000017.11:40998827:A:C
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.40998828A>C, NC_000017.10:g.39155080A>C, NW_003871091.1:g.148223A>C

Select item 148253507616.

rs1482535076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:40999677 (GRCh38)
17:39155929 (GRCh37)
Canonical SPDI:: NC_000017.11:40999676:C:A,NC_000017.11:40999676:C:T
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
A=0.000071/2 (TOMMO)
HGVS:: NC_000017.11:g.40999677C>A, NC_000017.11:g.40999677C>T, NC_000017.10:g.39155929C>A, NC_000017.10:g.39155929C>T, NW_003871091.1:g.149072C>A, NW_003871091.1:g.149072C>T, NM_031959.3:c.177G>T, NM_031959.3:c.177G>A, NM_031959.2:c.177G>T, NM_031959.2:c.177G>A, NP_114165.1:p.Gln59His

Select item 148086723517.

rs1480867235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:40999272 (GRCh38)
17:39155524 (GRCh37)
Canonical SPDI:: NC_000017.11:40999271:C:A,NC_000017.11:40999271:C:G
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.40999272C>A, NC_000017.11:g.40999272C>G, NC_000017.10:g.39155524C>A, NC_000017.10:g.39155524C>G, NW_003871091.1:g.148667C>A, NW_003871091.1:g.148667C>G, NM_031959.3:c.*285G>T, NM_031959.3:c.*285G>C, NM_031959.2:c.*285G>T, NM_031959.2:c.*285G>C

Select item 147886267218.

rs1478862672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41001014 (GRCh38)
17:39157266 (GRCh37)
Canonical SPDI:: NC_000017.11:41001013:A:G
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000057/15 (TOPMED)
G=0.000064/9 (GnomAD)
G=0.000212/4 (TOMMO)
G=0.001369/4 (KOREAN)
HGVS:: NC_000017.11:g.41001014A>G, NC_000017.10:g.39157266A>G, NW_003871091.1:g.150409A>G

Select item 147837367019.

rs1478373670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41001465 (GRCh38)
17:39157717 (GRCh37)
Canonical SPDI:: NC_000017.11:41001464:C:T
Gene:: KRTAP3-2 (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=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41001465C>T, NC_000017.10:g.39157717C>T, NW_003871091.1:g.150860C>T

Select item 147788138920.

rs1477881389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40999937 (GRCh38)
17:39156189 (GRCh37)
Canonical SPDI:: NC_000017.11:40999936:A:G
Gene:: KRTAP3-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40999937A>G, NC_000017.10:g.39156189A>G, NW_003871091.1:g.149332A>G

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