SNP Links for Gene (Select 3067) - SNP

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Select item 14914736291.

rs1491473629 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 15:50254736 (GRCh38)
15:50546934 (GRCh37)
Canonical SPDI:: NC_000015.10:50254736:T:TCT,NC_000015.10:50254736:T:TCTCT,NC_000015.10:50254736:T:TCTCTCT,NC_000015.10:50254736:T:TCTCTCTCT,NC_000015.10:50254736:T:TCTCTCTCTCT,NC_000015.10:50254736:T:TCTCTCTCTCTCT,NC_000015.10:50254736:T:TCTCTCTCTCTCTCT
Gene:: HDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000015.10:g.50254737_50254738insCT, NC_000015.10:g.50254737_50254738insCTCT, NC_000015.10:g.50254738CT[3], NC_000015.10:g.50254738CT[4], NC_000015.10:g.50254738CT[5], NC_000015.10:g.50254738CT[6], NC_000015.10:g.50254738CT[7], NC_000015.9:g.50546934_50546935insCT, NC_000015.9:g.50546934_50546935insCTCT, NC_000015.9:g.50546935CT[3], NC_000015.9:g.50546935CT[4], NC_000015.9:g.50546935CT[5], NC_000015.9:g.50546935CT[6], NC_000015.9:g.50546935CT[7], NG_027487.1:g.16229_16230insGA, NG_027487.1:g.16229_16230insGAGA, NG_027487.1:g.16230GA[3], NG_027487.1:g.16230GA[4], NG_027487.1:g.16230GA[5], NG_027487.1:g.16230GA[6], NG_027487.1:g.16230GA[7]

Select item 14910571032.

rs1491057103 has merged into rs200012989 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 15:50254736 (GRCh38)
15:50546933 (GRCh37)
Canonical SPDI:: NC_000015.10:50254733:TTTTTT:TT,NC_000015.10:50254733:TTTTTT:TTTT,NC_000015.10:50254733:TTTTTT:TTTTT,NC_000015.10:50254733:TTTTTT:TTTTTTTT,NC_000015.10:50254733:TTTTTT:TTTTTTTTTT
Gene:: HDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.03333/20 (NorthernSweden)
-=0.09523/367 (ALSPAC)
HGVS:: NC_000015.10:g.50254736_50254739del, NC_000015.10:g.50254738_50254739del, NC_000015.10:g.50254739del, NC_000015.10:g.50254738_50254739dup, NC_000015.10:g.50254736_50254739dup, NC_000015.9:g.50546933_50546936del, NC_000015.9:g.50546935_50546936del, NC_000015.9:g.50546936del, NC_000015.9:g.50546935_50546936dup, NC_000015.9:g.50546933_50546936dup, NG_027487.1:g.16229_16232del, NG_027487.1:g.16231_16232del, NG_027487.1:g.16232del, NG_027487.1:g.16231_16232dup, NG_027487.1:g.16229_16232dup

Select item 14910560763.

rs1491056076 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 15:50251833 (GRCh38)
15:50544030 (GRCh37)
Canonical SPDI:: NC_000015.10:50251831:AGA:A
Gene:: HDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000018/2 (GnomAD)
HGVS:: NC_000015.10:g.50251833_50251834del, NC_000015.9:g.50544030_50544031del, NG_027487.1:g.19133_19134del

Select item 14910458404.

rs1491045840 has merged into rs140597386 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:50261724 (GRCh38)
15:50553921 (GRCh37)
Canonical SPDI:: NC_000015.10:50261712:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:50261712:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:50261712:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:50261712:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:50261712:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:50261712:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:50261712:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:50261712:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: HDC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.086/123 (1000Genomes)
HGVS:: NC_000015.10:g.50261724_50261726del, NC_000015.10:g.50261725_50261726del, NC_000015.10:g.50261726del, NC_000015.10:g.50261726dup, NC_000015.10:g.50261725_50261726dup, NC_000015.10:g.50261724_50261726dup, NC_000015.10:g.50261723_50261726dup, NC_000015.10:g.50261718_50261726dup, NC_000015.9:g.50553921_50553923del, NC_000015.9:g.50553922_50553923del, NC_000015.9:g.50553923del, NC_000015.9:g.50553923dup, NC_000015.9:g.50553922_50553923dup, NC_000015.9:g.50553921_50553923dup, NC_000015.9:g.50553920_50553923dup, NC_000015.9:g.50553915_50553923dup, NG_027487.1:g.9251_9253del, NG_027487.1:g.9252_9253del, NG_027487.1:g.9253del, NG_027487.1:g.9253dup, NG_027487.1:g.9252_9253dup, NG_027487.1:g.9251_9253dup, NG_027487.1:g.9250_9253dup, NG_027487.1:g.9245_9253dup

Select item 14910010815.

rs1491001081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:50265269 (GRCh38)
15:50557466 (GRCh37)
Canonical SPDI:: NC_000015.10:50265268:G:T
Gene:: HDC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50265269G>T, NC_000015.9:g.50557466G>T, NG_027487.1:g.5697C>A

Select item 14909487386.

rs1490948738 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 15:50264284 (GRCh38)
15:50556481 (GRCh37)
Canonical SPDI:: NC_000015.10:50264283:A:
Gene:: HDC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50264284del, NC_000015.9:g.50556481del, NG_027487.1:g.6682del

Select item 14908821707.

rs1490882170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50265741 (GRCh38)
15:50557938 (GRCh37)
Canonical SPDI:: NC_000015.10:50265740:T:C
Gene:: HDC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000015.10:g.50265741T>C, NC_000015.9:g.50557938T>C, NG_027487.1:g.5225A>G, NM_002112.3:c.-118A>G, NM_001306146.1:c.-118A>G

Select item 14908277798.

rs1490827779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50255999 (GRCh38)
15:50548196 (GRCh37)
Canonical SPDI:: NC_000015.10:50255998:A:G
Gene:: HDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.50255999A>G, NC_000015.9:g.50548196A>G, NG_027487.1:g.14967T>C

Select item 14908015329.

rs1490801532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50257206 (GRCh38)
15:50549403 (GRCh37)
Canonical SPDI:: NC_000015.10:50257205:C:T
Gene:: HDC (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50257206C>T, NC_000015.9:g.50549403C>T, NG_027487.1:g.13760G>A

Select item 149065026510.

rs1490650265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50257439 (GRCh38)
15:50549636 (GRCh37)
Canonical SPDI:: NC_000015.10:50257438:C:T
Gene:: HDC (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50257439C>T, NC_000015.9:g.50549636C>T, NG_027487.1:g.13527G>A, NM_002112.4:c.427G>A, NM_002112.3:c.427G>A, NM_001306146.2:c.427G>A, NM_001306146.1:c.427G>A, XM_017022094.2:c.427G>A, XM_017022094.1:c.427G>A, XM_017022095.2:c.427G>A, XM_017022095.1:c.427G>A, XM_017022099.2:c.427G>A, XM_017022099.1:c.427G>A, NP_002103.2:p.Gly143Arg, NP_001293075.1:p.Gly143Arg, XP_016877583.1:p.Gly143Arg, XP_016877584.1:p.Gly143Arg, XP_016877588.1:p.Gly143Arg

Select item 149052008411.

rs1490520084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:50253528 (GRCh38)
15:50545725 (GRCh37)
Canonical SPDI:: NC_000015.10:50253527:T:G
Gene:: HDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50253528T>G, NC_000015.9:g.50545725T>G, NG_027487.1:g.17438A>C

Select item 149039533212.

rs1490395332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50264487 (GRCh38)
15:50556684 (GRCh37)
Canonical SPDI:: NC_000015.10:50264486:A:G
Gene:: HDC (Varview)
Functional Consequence:: intron_variant,genic_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_000015.10:g.50264487A>G, NC_000015.9:g.50556684A>G, NG_027487.1:g.6479T>C

Select item 149033960613.

rs1490339606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50241902 (GRCh38)
15:50534099 (GRCh37)
Canonical SPDI:: NC_000015.10:50241901:T:C
Gene:: HDC (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000015.10:g.50241902T>C, NC_000015.9:g.50534099T>C, NG_027487.1:g.29064A>G

Select item 149028598714.

rs1490285987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50258949 (GRCh38)
15:50551146 (GRCh37)
Canonical SPDI:: NC_000015.10:50258948:A:G
Gene:: HDC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50258949A>G, NC_000015.9:g.50551146A>G, NG_027487.1:g.12017T>C

Select item 149001759715.

rs1490017597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:50266218 (GRCh38)
15:50558415 (GRCh37)
Canonical SPDI:: NC_000015.10:50266217:C:A
Gene:: HDC (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_000015.10:g.50266218C>A, NC_000015.9:g.50558415C>A, NG_027487.1:g.4748G>T

Select item 149001624416.

rs1490016244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50261309 (GRCh38)
15:50553506 (GRCh37)
Canonical SPDI:: NC_000015.10:50261308:C:T
Gene:: HDC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.50261309C>T, NC_000015.9:g.50553506C>T, NG_027487.1:g.9657G>A

Select item 148993693217.

rs1489936932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50249751 (GRCh38)
15:50541948 (GRCh37)
Canonical SPDI:: NC_000015.10:50249750:C:T
Gene:: HDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50249751C>T, NC_000015.9:g.50541948C>T, NG_027487.1:g.21215G>A

Select item 148963210518.

rs1489632105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:50263124 (GRCh38)
15:50555321 (GRCh37)
Canonical SPDI:: NC_000015.10:50263123:G:A
Gene:: HDC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000015.10:g.50263124G>A, NC_000015.9:g.50555321G>A, NG_027487.1:g.7842C>T

Select item 148960800519.

rs1489608005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:50252534 (GRCh38)
15:50544731 (GRCh37)
Canonical SPDI:: NC_000015.10:50252533:A:T
Gene:: HDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.50252534A>T, NC_000015.9:g.50544731A>T, NG_027487.1:g.18432T>A

Select item 148952174720.

rs1489521747 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50249787 (GRCh38)
15:50541984 (GRCh37)
Canonical SPDI:: NC_000015.10:50249786:T:C
Gene:: HDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.50249787T>C, NC_000015.9:g.50541984T>C, NG_027487.1:g.21179A>G

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