SNP Links for Gene (Select 100507475) - SNP

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Items: 1 to 20 of 799

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Select item 14903833541.

rs1490383354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:208253790 (GRCh38)
2:209118514 (GRCh37)
Canonical SPDI:: NC_000002.12:208253789:C:G
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.208253790C>G, NC_000002.11:g.209118514C>G, NG_023319.2:g.17285G>C

Select item 14898919422.

rs1489891942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:208254276 (GRCh38)
2:209119000 (GRCh37)
Canonical SPDI:: NC_000002.12:208254275:G:A
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.208254276G>A, NC_000002.11:g.209119000G>A, NG_023319.2:g.16799C>T, NM_001282387.1:c.-336C>T

Select item 14883097473.

rs1488309747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:208256353 (GRCh38)
2:209121077 (GRCh37)
Canonical SPDI:: NC_000002.12:208256352:G:C
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.208256353G>C, NC_000002.11:g.209121077G>C, NG_023319.2:g.14722C>G

Select item 14882608344.

rs1488260834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:208254172 (GRCh38)
2:209118896 (GRCh37)
Canonical SPDI:: NC_000002.12:208254171:C:A
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.208254172C>A, NC_000002.11:g.209118896C>A, NG_023319.2:g.16903G>T, NM_001282387.1:c.-232G>T

Select item 14877956675.

rs1487795667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:208253372 (GRCh38)
2:209118096 (GRCh37)
Canonical SPDI:: NC_000002.12:208253371:T:C
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000002.12:g.208253372T>C, NC_000002.11:g.209118096T>C, NG_023319.2:g.17703A>G

Select item 14876402586.

rs1487640258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:208255438 (GRCh38)
2:209120162 (GRCh37)
Canonical SPDI:: NC_000002.12:208255437:A:T
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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_000002.12:g.208255438A>T, NC_000002.11:g.209120162A>T, NG_023319.2:g.15637T>A

Select item 14866688687.

rs1486668868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:208254481 (GRCh38)
2:209119205 (GRCh37)
Canonical SPDI:: NC_000002.12:208254480:C:A,NC_000002.12:208254480:C:T
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
T=0.002732/5 (Korea1K)
HGVS:: NC_000002.12:g.208254481C>A, NC_000002.12:g.208254481C>T, NC_000002.11:g.209119205C>A, NC_000002.11:g.209119205C>T, NG_023319.2:g.16594G>T, NG_023319.2:g.16594G>A

Select item 14843749968.

rs1484374996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:208253635 (GRCh38)
2:209118359 (GRCh37)
Canonical SPDI:: NC_000002.12:208253634:C:A
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00027/5 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.001116/5 (Estonian)
HGVS:: NC_000002.12:g.208253635C>A, NC_000002.11:g.209118359C>A, NG_023319.2:g.17440G>T

Select item 14837402769.

rs1483740276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:208255424 (GRCh38)
2:209120148 (GRCh37)
Canonical SPDI:: NC_000002.12:208255423:G:A
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.208255424G>A, NC_000002.11:g.209120148G>A, NG_023319.2:g.15651C>T, NR_046452.1:n.192G>A

Select item 148318172610.

rs1483181726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:208256298 (GRCh38)
2:209121022 (GRCh37)
Canonical SPDI:: NC_000002.12:208256297:A:C
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000002.12:g.208256298A>C, NC_000002.11:g.209121022A>C, NG_023319.2:g.14777T>G

Select item 148285353011.

rs1482853530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:208255791 (GRCh38)
2:209120515 (GRCh37)
Canonical SPDI:: NC_000002.12:208255790:G:A
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.208255791G>A, NC_000002.11:g.209120515G>A, NG_023319.2:g.15284C>T

Select item 148262335212.

rs1482623352 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:208254641 (GRCh38)
2:209119365 (GRCh37)
Canonical SPDI:: NC_000002.12:208254640:CCC:CC
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.208254643del, NC_000002.11:g.209119367del, NG_023319.2:g.16434del

Select item 148138036613.

rs1481380366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:208256440 (GRCh38)
2:209121164 (GRCh37)
Canonical SPDI:: NC_000002.12:208256439:C:A
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.208256440C>A, NC_000002.11:g.209121164C>A, NG_023319.2:g.14635G>T

Select item 148106489814.

rs1481064898 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:208253890 (GRCh38)
2:209118614 (GRCh37)
Canonical SPDI:: NC_000002.12:208253889:A:T
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.208253890A>T, NC_000002.11:g.209118614A>T, NG_023319.2:g.17185T>A, NM_005896.4:c.-21T>A, NM_005896.3:c.-21T>A, NM_005896.2:c.-21T>A, NM_001282387.1:c.-21T>A, NM_001282386.1:c.-21T>A

Select item 148008303215.

rs1480083032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:208254323 (GRCh38)
2:209119047 (GRCh37)
Canonical SPDI:: NC_000002.12:208254322:C:G
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.208254323C>G, NC_000002.11:g.209119047C>G, NG_023319.2:g.16752G>C

Select item 147809419716.

rs1478094197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:208254859 (GRCh38)
2:209119583 (GRCh37)
Canonical SPDI:: NC_000002.12:208254858:C:T
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.208254859C>T, NC_000002.11:g.209119583C>T, NG_023319.2:g.16216G>A

Select item 147757168217.

rs1477571682 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 2:208253336 (GRCh38)
2:209118061 (GRCh37)
Canonical SPDI:: NC_000002.12:208253336:GTG:GTGTG
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0./0 (ALFA)
GT=0.000004/1 (TOPMED)
GT=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.208253338_208253339dup, NC_000002.11:g.209118062_209118063dup, NG_023319.2:g.17737_17738dup

Select item 147682498118.

rs1476824981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:208253442 (GRCh38)
2:209118166 (GRCh37)
Canonical SPDI:: NC_000002.12:208253441:G:T
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.208253442G>T, NC_000002.11:g.209118166G>T, NG_023319.2:g.17633C>A

Select item 147449269019.

rs1474492690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:208253392 (GRCh38)
2:209118116 (GRCh37)
Canonical SPDI:: NC_000002.12:208253391:A:C
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,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_000002.12:g.208253392A>C, NC_000002.11:g.209118116A>C, NG_023319.2:g.17683T>G

Select item 147386837320.

rs1473868373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:208254751 (GRCh38)
2:209119475 (GRCh37)
Canonical SPDI:: NC_000002.12:208254750:T:A
Gene:: IDH1 (Varview), IDH1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_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_000002.12:g.208254751T>A, NC_000002.11:g.209119475T>A, NG_023319.2:g.16324A>T

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