SNP Links for Gene (Select 728299) - SNP

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Select item 14879702491.

rs1487970249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:31037867 (GRCh38)
21:32410186 (GRCh37)
Canonical SPDI:: NC_000021.9:31037866:T:C
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.31037867T>C, NC_000021.8:g.32410186T>C

Select item 14862885492.

rs1486288549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:31037743 (GRCh38)
21:32410062 (GRCh37)
Canonical SPDI:: NC_000021.9:31037742:G:A
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.31037743G>A, NC_000021.8:g.32410062G>A

Select item 14861420853.

rs1486142085 [Homo sapiens]

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

Select item 14857737044.

rs1485773704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:31039113 (GRCh38)
21:32411432 (GRCh37)
Canonical SPDI:: NC_000021.9:31039112:T:A
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.31039113T>A, NC_000021.8:g.32411432T>A

Select item 14854066715.

rs1485406671 [Homo sapiens]

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

Select item 14846669536.

rs1484666953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:31038182 (GRCh38)
21:32410501 (GRCh37)
Canonical SPDI:: NC_000021.9:31038181:A:C
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.31038182A>C, NC_000021.8:g.32410501A>C, NM_001099219.1:c.*70T>G

Select item 14836195377.

rs1483619537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:31038356 (GRCh38)
21:32410675 (GRCh37)
Canonical SPDI:: NC_000021.9:31038355:C:T
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.31038356C>T, NC_000021.8:g.32410675C>T, NM_001099219.1:c.88G>A, NP_001092689.1:p.Gly30Ser

Select item 14831724548.

rs1483172454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:31038561 (GRCh38)
21:32410880 (GRCh37)
Canonical SPDI:: NC_000021.9:31038560:G:T
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: 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.31038561G>T, NC_000021.8:g.32410880G>T

Select item 14802841669.

rs1480284166 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 21:31038519 (GRCh38)
21:32410838 (GRCh37)
Canonical SPDI:: NC_000021.9:31038518:C:
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000447/2 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000893/4 (Estonian)
HGVS:: NC_000021.9:g.31038519del, NC_000021.8:g.32410838del

Select item 147873173610.

rs1478731736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:31040155 (GRCh38)
21:32412474 (GRCh37)
Canonical SPDI:: NC_000021.9:31040154:T:C
Gene:: KRTAP19-8 (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.31040155T>C, NC_000021.8:g.32412474T>C

Select item 147825696611.

rs1478256966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:31040135 (GRCh38)
21:32412454 (GRCh37)
Canonical SPDI:: NC_000021.9:31040134:T:C
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000021.9:g.31040135T>C, NC_000021.8:g.32412454T>C

Select item 147634468412.

rs1476344684 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 147629961213.

rs1476299612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:31039152 (GRCh38)
21:32411471 (GRCh37)
Canonical SPDI:: NC_000021.9:31039151:T:A
Gene:: KRTAP19-8 (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.31039152T>A, NC_000021.8:g.32411471T>A

Select item 147543888314.

rs1475438883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:31037716 (GRCh38)
21:32410035 (GRCh37)
Canonical SPDI:: NC_000021.9:31037715:G:C
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000021.9:g.31037716G>C, NC_000021.8:g.32410035G>C

Select item 147529769415.

rs1475297694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 21:31038314 (GRCh38)
21:32410633 (GRCh37)
Canonical SPDI:: NC_000021.9:31038313:A:C,NC_000021.9:31038313:A:G
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.31038314A>C, NC_000021.9:g.31038314A>G, NC_000021.8:g.32410633A>C, NC_000021.8:g.32410633A>G, NM_001099219.1:c.130T>G, NM_001099219.1:c.130T>C, NP_001092689.1:p.Tyr44Asp, NP_001092689.1:p.Tyr44His

Select item 147446053216.

rs1474460532 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:31038573 (GRCh38)
21:32410892 (GRCh37)
Canonical SPDI:: NC_000021.9:31038572:T:C
Gene:: KRTAP19-8 (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.31038573T>C, NC_000021.8:g.32410892T>C

Select item 146983607917.

rs1469836079 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:31040393 (GRCh38)
21:32412712 (GRCh37)
Canonical SPDI:: NC_000021.9:31040392:T:C
Gene:: KRTAP19-8 (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.31040393T>C, NC_000021.8:g.32412712T>C

Select item 146770370718.

rs1467703707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:31038859 (GRCh38)
21:32411178 (GRCh37)
Canonical SPDI:: NC_000021.9:31038858:C:G
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.31038859C>G, NC_000021.8:g.32411178C>G

Select item 146715269519.

rs1467152695 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 21:31040262 (GRCh38)
21:32412581 (GRCh37)
Canonical SPDI:: NC_000021.9:31040261:T:
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.31040262del, NC_000021.8:g.32412581del

Select item 146712094520.

rs1467120945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:31038393 (GRCh38)
21:32410712 (GRCh37)
Canonical SPDI:: NC_000021.9:31038392:G:A
Gene:: KRTAP19-8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.31038393G>A, NC_000021.8:g.32410712G>A, NM_001099219.1:c.51C>T

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