SNP Links for Gene (Select 3065) - SNP

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Select item 14915638701.

rs1491563870 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:32333558 (GRCh38)
1:32799160 (GRCh37)
Canonical SPDI:: NC_000001.11:32333558:A:AA
Gene:: HDAC1 (Varview), MARCKSL1 (Varview), LOC124903949 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.32333559dup, NC_000001.10:g.32799160dup, NG_047018.1:g.46453dup, NM_004964.3:c.*515dup, NM_004964.2:c.*515dup, XM_011541309.3:c.*515dup, XM_011541309.2:c.*515dup, XM_011541309.1:c.*515dup

Select item 14913358212.

rs1491335821 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 1:32332801 (GRCh38)
1:32798403 (GRCh37)
Canonical SPDI:: NC_000001.11:32332801:TTT:TTTTT
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
TT=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32332803_32332804dup, NC_000001.10:g.32798404_32798405dup, NG_047018.1:g.45697_45698dup

Select item 14912237963.

rs1491223796 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:32332801 (GRCh38)
1:32798402 (GRCh37)
Canonical SPDI:: NC_000001.11:32332800:CT:
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.32332801_32332802del, NC_000001.10:g.32798402_32798403del, NG_047018.1:g.45695_45696del

Select item 14909676724.

rs1490967672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:32309546 (GRCh38)
1:32775147 (GRCh37)
Canonical SPDI:: NC_000001.11:32309545:G:A,NC_000001.11:32309545:G:C,NC_000001.11:32309545:G:T
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.32309546G>A, NC_000001.11:g.32309546G>C, NC_000001.11:g.32309546G>T, NC_000001.10:g.32775147G>A, NC_000001.10:g.32775147G>C, NC_000001.10:g.32775147G>T, NG_047018.1:g.22440G>A, NG_047018.1:g.22440G>C, NG_047018.1:g.22440G>T

Select item 14907824745.

rs1490782474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:32324014 (GRCh38)
1:32789615 (GRCh37)
Canonical SPDI:: NC_000001.11:32324013:A:T
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.32324014A>T, NC_000001.10:g.32789615A>T, NG_047018.1:g.36908A>T

Select item 14907502236.

rs1490750223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:32317117 (GRCh38)
1:32782718 (GRCh37)
Canonical SPDI:: NC_000001.11:32317116:C:G
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant,genic_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_000001.11:g.32317117C>G, NC_000001.10:g.32782718C>G, NG_047018.1:g.30011C>G

Select item 14907063017.

rs1490706301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:32300451 (GRCh38)
1:32766052 (GRCh37)
Canonical SPDI:: NC_000001.11:32300450:A:C
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.32300451A>C, NC_000001.10:g.32766052A>C, NG_047018.1:g.13345A>C

Select item 14906909708.

rs1490690970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:32326254 (GRCh38)
1:32791855 (GRCh37)
Canonical SPDI:: NC_000001.11:32326253:G:C
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_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_000001.11:g.32326254G>C, NC_000001.10:g.32791855G>C, NG_047018.1:g.39148G>C

Select item 14905991949.

rs1490599194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32290934 (GRCh38)
1:32756535 (GRCh37)
Canonical SPDI:: NC_000001.11:32290933:G:A
Gene:: HDAC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.32290934G>A, NC_000001.10:g.32756535G>A, NG_047018.1:g.3828G>A

Select item 149058537310.

rs1490585373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:32317650 (GRCh38)
1:32783251 (GRCh37)
Canonical SPDI:: NC_000001.11:32317649:C:G,NC_000001.11:32317649:C:T
Gene:: HDAC1 (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)
HGVS:: NC_000001.11:g.32317650C>G, NC_000001.11:g.32317650C>T, NC_000001.10:g.32783251C>G, NC_000001.10:g.32783251C>T, NG_047018.1:g.30544C>G, NG_047018.1:g.30544C>T

Select item 149048768911.

rs1490487689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:32309352 (GRCh38)
1:32774953 (GRCh37)
Canonical SPDI:: NC_000001.11:32309351:G:A,NC_000001.11:32309351:G:C
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.32309352G>A, NC_000001.11:g.32309352G>C, NC_000001.10:g.32774953G>A, NC_000001.10:g.32774953G>C, NG_047018.1:g.22246G>A, NG_047018.1:g.22246G>C

Select item 149040336312.

rs1490403363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:32326093 (GRCh38)
1:32791694 (GRCh37)
Canonical SPDI:: NC_000001.11:32326092:A:G
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32326093A>G, NC_000001.10:g.32791694A>G, NG_047018.1:g.38987A>G

Select item 149024093613.

rs1490240936 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:32326585 (GRCh38)
1:32792187 (GRCh37)
Canonical SPDI:: NC_000001.11:32326585:A:AA
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32326586dup, NC_000001.10:g.32792187dup, NG_047018.1:g.39480dup

Select item 149000960114.

rs1490009601 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGTGGAATTCTAAGGA>- [Show Flanks]
Chromosome:: 1:32295964 (GRCh38)
1:32761565 (GRCh37)
Canonical SPDI:: NC_000001.11:32295962:AGGGTGGAATTCTAAGGA:A
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
-=0.000366/97 (TOPMED)
HGVS:: NC_000001.11:g.32295964_32295980del, NC_000001.10:g.32761565_32761581del, NG_047018.1:g.8858_8874del

Select item 148995006915.

rs1489950069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:32293410 (GRCh38)
1:32759011 (GRCh37)
Canonical SPDI:: NC_000001.11:32293409:A:G
Gene:: HDAC1 (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_000001.11:g.32293410A>G, NC_000001.10:g.32759011A>G, NG_047018.1:g.6304A>G

Select item 148992369216.

rs1489923692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32294467 (GRCh38)
1:32760068 (GRCh37)
Canonical SPDI:: NC_000001.11:32294466:G:A
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.32294467G>A, NC_000001.10:g.32760068G>A, NG_047018.1:g.7361G>A

Select item 148991366217.

rs1489913662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:32304639 (GRCh38)
1:32770240 (GRCh37)
Canonical SPDI:: NC_000001.11:32304638:G:C
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.32304639G>C, NC_000001.10:g.32770240G>C, NG_047018.1:g.17533G>C

Select item 148985923218.

rs1489859232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:32334099 (GRCh38)
1:32799700 (GRCh37)
Canonical SPDI:: NC_000001.11:32334098:A:G,NC_000001.11:32334098:A:T
Gene:: HDAC1 (Varview), MARCKSL1 (Varview), LOC124903949 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00055/1 (Korea1K)
HGVS:: NC_000001.11:g.32334099A>G, NC_000001.11:g.32334099A>T, NC_000001.10:g.32799700A>G, NC_000001.10:g.32799700A>T, NG_047018.1:g.46993A>G, NG_047018.1:g.46993A>T, NM_023009.7:c.*498T>C, NM_023009.7:c.*498T>A, NM_023009.6:c.*498T>C, NM_023009.6:c.*498T>A, NR_052852.2:n.1061T>C, NR_052852.2:n.1061T>A, NR_052852.1:n.1067T>C, NR_052852.1:n.1067T>A

Select item 148985873519.

rs1489858735 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32329183 (GRCh38)
1:32794784 (GRCh37)
Canonical SPDI:: NC_000001.11:32329182:T:C
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32329183T>C, NC_000001.10:g.32794784T>C, NG_047018.1:g.42077T>C

Select item 148980500520.

rs1489805005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32319161 (GRCh38)
1:32784762 (GRCh37)
Canonical SPDI:: NC_000001.11:32319160:T:C
Gene:: HDAC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.32319161T>C, NC_000001.10:g.32784762T>C, NG_047018.1:g.32055T>C

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