SNP Links for Gene (Select 3280) - SNP

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Select item 14915027881.

rs1491502788 has merged into rs1231370655 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCC,CCCC [Show Flanks]
Chromosome:: 3:194134866 (GRCh38)
3:193852655 (GRCh37)
Canonical SPDI:: NC_000003.12:194134861:CCCCCC:CCCC,NC_000003.12:194134861:CCCCCC:CCCCCCC,NC_000003.12:194134861:CCCCCC:CCCCCCCC
Gene:: HES1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.00282/5 (Korea1K)
HGVS:: NC_000003.12:g.194134866_194134867del, NC_000003.12:g.194134867dup, NC_000003.12:g.194134866_194134867dup, NC_000003.11:g.193852655_193852656del, NC_000003.11:g.193852656dup, NC_000003.11:g.193852655_193852656dup

Select item 14914775222.

rs1491477522 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:194136360 (GRCh38)
3:193854150 (GRCh37)
Canonical SPDI:: NC_000003.12:194136360::T
Gene:: HES1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00006/2 (GnomAD)
HGVS:: NC_000003.12:g.194136360_194136361insT, NC_000003.11:g.193854149_193854150insT, NG_083236.1:g.355_356insT, NM_005524.4:c.-21_-20insT, NM_005524.3:c.-21_-20insT

Select item 14910016193.

rs1491001619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194138177 (GRCh38)
3:193855966 (GRCh37)
Canonical SPDI:: NC_000003.12:194138176:C:T
Gene:: HES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.194138177C>T, NC_000003.11:g.193855966C>T, NM_005524.4:c.787C>T, NM_005524.3:c.787C>T, NP_005515.1:p.Pro263Ser

Select item 14909295184.

rs1490929518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:194137021 (GRCh38)
3:193854810 (GRCh37)
Canonical SPDI:: NC_000003.12:194137020:C:G,NC_000003.12:194137020:C:T
Gene:: HES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.194137021C>G, NC_000003.12:g.194137021C>T, NC_000003.11:g.193854810C>G, NC_000003.11:g.193854810C>T, NG_083236.1:g.1016C>G, NG_083236.1:g.1016C>T, NM_005524.4:c.265C>G, NM_005524.4:c.265C>T, NM_005524.3:c.265C>G, NM_005524.3:c.265C>T, NP_005515.1:p.Arg89Gly, NP_005515.1:p.Arg89Trp

Select item 14906513315.

rs1490651331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:194138447 (GRCh38)
3:193856236 (GRCh37)
Canonical SPDI:: NC_000003.12:194138446:A:G
Gene:: HES1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000003.12:g.194138447A>G, NC_000003.11:g.193856236A>G, NM_005524.4:c.*214A>G, NM_005524.3:c.*214A>G

Select item 14888816696.

rs1488881669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:194138848 (GRCh38)
3:193856637 (GRCh37)
Canonical SPDI:: NC_000003.12:194138847:C:G
Gene:: HES1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000003.12:g.194138848C>G, NC_000003.11:g.193856637C>G

Select item 14884058867.

rs1488405886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194134208 (GRCh38)
3:193851997 (GRCh37)
Canonical SPDI:: NC_000003.12:194134207:C:T
Gene:: HES1 (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)
HGVS:: NC_000003.12:g.194134208C>T, NC_000003.11:g.193851997C>T

Select item 14877731478.

rs1487773147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:194134825 (GRCh38)
3:193852614 (GRCh37)
Canonical SPDI:: NC_000003.12:194134824:G:T
Gene:: HES1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.194134825G>T, NC_000003.11:g.193852614G>T

Select item 14876495589.

rs1487649558 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:194136772 (GRCh38)
3:193854561 (GRCh37)
Canonical SPDI:: NC_000003.12:194136771:AA:
Gene:: HES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.194136772_194136773del, NC_000003.11:g.193854561_193854562del, NG_083236.1:g.767_768del

Select item 148746897410.

rs1487468974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:194134417 (GRCh38)
3:193852206 (GRCh37)
Canonical SPDI:: NC_000003.12:194134416:G:A,NC_000003.12:194134416:G:C
Gene:: HES1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000003.12:g.194134417G>A, NC_000003.12:g.194134417G>C, NC_000003.11:g.193852206G>A, NC_000003.11:g.193852206G>C

Select item 148737367211.

rs1487373672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194137610 (GRCh38)
3:193855399 (GRCh37)
Canonical SPDI:: NC_000003.12:194137609:C:T
Gene:: HES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.194137610C>T, NC_000003.11:g.193855399C>T

Select item 148715066712.

rs1487150667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:194134967 (GRCh38)
3:193852756 (GRCh37)
Canonical SPDI:: NC_000003.12:194134966:G:A
Gene:: HES1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.194134967G>A, NC_000003.11:g.193852756G>A

Select item 148712093313.

rs1487120933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:194135285 (GRCh38)
3:193853074 (GRCh37)
Canonical SPDI:: NC_000003.12:194135284:T:C
Gene:: HES1 (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_000003.12:g.194135285T>C, NC_000003.11:g.193853074T>C

Select item 148702657014.

rs1487026570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:194134771 (GRCh38)
3:193852560 (GRCh37)
Canonical SPDI:: NC_000003.12:194134770:G:C
Gene:: HES1 (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=0.000156/1 (1000Genomes)
HGVS:: NC_000003.12:g.194134771G>C, NC_000003.11:g.193852560G>C

Select item 148699974315.

rs1486999743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:194137524 (GRCh38)
3:193855313 (GRCh37)
Canonical SPDI:: NC_000003.12:194137523:G:A
Gene:: HES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.194137524G>A, NC_000003.11:g.193855313G>A

Select item 148668232616.

rs1486682326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:194137787 (GRCh38)
3:193855576 (GRCh37)
Canonical SPDI:: NC_000003.12:194137786:A:G
Gene:: HES1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.194137787A>G, NC_000003.11:g.193855576A>G, NM_005524.4:c.397A>G, NM_005524.3:c.397A>G, NP_005515.1:p.Thr133Ala

Select item 148617087817.

rs1486170878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194135228 (GRCh38)
3:193853017 (GRCh37)
Canonical SPDI:: NC_000003.12:194135227:C:T
Gene:: HES1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.194135228C>T, NC_000003.11:g.193853017C>T

Select item 148508847418.

rs1485088474 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGA>- [Show Flanks]
Chromosome:: 3:194136376 (GRCh38)
3:193854165 (GRCh37)
Canonical SPDI:: NC_000003.12:194136374:AGGA:A
Gene:: HES1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00131/8 (ALFA)
-=0.00012/2 (TOMMO)
HGVS:: NC_000003.12:g.194136376_194136378del, NC_000003.11:g.193854165_193854167del, NG_083236.1:g.371_373del, NM_005524.4:c.-5_-3del, NM_005524.3:c.-5_-3del

Select item 148451686719.

rs1484516867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:194135154 (GRCh38)
3:193852943 (GRCh37)
Canonical SPDI:: NC_000003.12:194135153:G:A,NC_000003.12:194135153:G:C,NC_000003.12:194135153:G:T
Gene:: HES1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.194135154G>A, NC_000003.12:g.194135154G>C, NC_000003.12:g.194135154G>T, NC_000003.11:g.193852943G>A, NC_000003.11:g.193852943G>C, NC_000003.11:g.193852943G>T

Select item 148425809420.

rs1484258094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:194138420 (GRCh38)
3:193856209 (GRCh37)
Canonical SPDI:: NC_000003.12:194138419:A:G
Gene:: HES1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000003.12:g.194138420A>G, NC_000003.11:g.193856209A>G, NM_005524.4:c.*187A>G, NM_005524.3:c.*187A>G

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