SNP Links for Nucleotide (Select 18104951) - SNP

Links from Nucleotide

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Select item 14908516211.

rs1490851621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19766971 (GRCh38)
22:19754494 (GRCh37)
Canonical SPDI:: NC_000022.11:19766970:C:T
Gene:: TBX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.19766971C>T, NC_000022.10:g.19754494C>T, NG_009229.1:g.15269C>T, NM_080647.1:c.*104C>T, NM_001379200.1:c.*104C>T, XM_006724312.3:c.*104C>T, XM_006724312.2:c.*104C>T, XM_006724312.1:c.*104C>T, XM_017028926.2:c.*104C>T, XM_017028926.1:c.*104C>T, XM_017028927.2:c.*104C>T, XM_017028927.1:c.*104C>T

Select item 14899040582.

rs1489904058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:19761042 (GRCh38)
22:19748565 (GRCh37)
Canonical SPDI:: NC_000022.11:19761041:C:G
Gene:: TBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.19761042C>G, NC_000022.10:g.19748565C>G, NG_009229.1:g.9340C>G, NM_080646.2:c.172C>G, NM_080646.1:c.172C>G, NM_080647.1:c.172C>G, NM_001379200.1:c.199C>G, NM_005992.1:c.172C>G, XM_006724312.3:c.172C>G, XM_006724312.2:c.172C>G, XM_006724312.1:c.172C>G, XM_017028926.2:c.172C>G, XM_017028926.1:c.172C>G, XM_017028927.2:c.199C>G, NP_542377.1:p.Pro58Ala, NP_542378.1:p.Pro58Ala, NP_001366129.1:p.Pro67Ala, NP_005983.1:p.Pro58Ala, XP_006724375.1:p.Pro58Ala, XP_016884415.1:p.Pro58Ala, XP_016884416.2:p.Pro67Ala

Select item 14896481513.

rs1489648151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19761176 (GRCh38)
22:19748699 (GRCh37)
Canonical SPDI:: NC_000022.11:19761175:G:A
Gene:: TBX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19761176G>A, NC_000022.10:g.19748699G>A, NG_009229.1:g.9474G>A, NM_080646.2:c.306G>A, NM_080646.1:c.306G>A, NM_080647.1:c.306G>A, NM_001379200.1:c.333G>A, NM_005992.1:c.306G>A, XM_006724312.3:c.306G>A, XM_006724312.2:c.306G>A, XM_006724312.1:c.306G>A, XM_017028926.2:c.306G>A, XM_017028926.1:c.306G>A, XM_017028927.2:c.333G>A

Select item 14892880214.

rs1489288021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:19765974 (GRCh38)
22:19753497 (GRCh37)
Canonical SPDI:: NC_000022.11:19765973:C:G
Gene:: TBX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19765974C>G, NC_000022.10:g.19753497C>G, NG_009229.1:g.14272C>G, NM_080646.2:c.981C>G, NM_080646.1:c.981C>G, NM_080647.1:c.981C>G, NM_001379200.1:c.1008C>G, NM_005992.1:c.981C>G, XM_006724312.3:c.981C>G, XM_006724312.2:c.981C>G, XM_006724312.1:c.981C>G, XM_017028926.2:c.981C>G, XM_017028926.1:c.981C>G, XM_017028927.2:c.1062C>G, XM_017028927.1:c.336C>G

Select item 14856984655.

rs1485698465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19767128 (GRCh38)
22:19754651 (GRCh37)
Canonical SPDI:: NC_000022.11:19767127:G:A
Gene:: TBX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_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_000022.11:g.19767128G>A, NC_000022.10:g.19754651G>A, NG_009229.1:g.15426G>A, NM_080647.1:c.*261G>A, NM_001379200.1:c.*261G>A, XM_006724312.3:c.*261G>A, XM_006724312.2:c.*261G>A, XM_006724312.1:c.*261G>A, XM_017028926.2:c.*261G>A, XM_017028926.1:c.*261G>A, XM_017028927.2:c.*261G>A, XM_017028927.1:c.*261G>A

Select item 14855901526.

rs1485590152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19766556 (GRCh38)
22:19754079 (GRCh37)
Canonical SPDI:: NC_000022.11:19766555:C:T
Gene:: TBX1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19766556C>T, NC_000022.10:g.19754079C>T, NG_009229.1:g.14854C>T, NM_080647.1:c.1177C>T, NM_001379200.1:c.1204C>T, XM_006724312.3:c.1177C>T, XM_006724312.2:c.1177C>T, XM_006724312.1:c.1177C>T, XM_017028926.2:c.1177C>T, XM_017028926.1:c.1177C>T, XM_017028927.2:c.1258C>T, XM_017028927.1:c.532C>T, NP_542378.1:p.Pro393Ser, NP_001366129.1:p.Pro402Ser, XP_006724375.1:p.Pro393Ser, XP_016884415.1:p.Pro393Ser, XP_016884416.2:p.Pro420Ser

Select item 14828570237.

rs1482857023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:19760912 (GRCh38)
22:19748435 (GRCh37)
Canonical SPDI:: NC_000022.11:19760911:G:A,NC_000022.11:19760911:G:C
Gene:: TBX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000112/5 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19760912G>A, NC_000022.11:g.19760912G>C, NC_000022.10:g.19748435G>A, NC_000022.10:g.19748435G>C, NG_009229.1:g.9210G>A, NG_009229.1:g.9210G>C, NM_080646.2:c.42G>A, NM_080646.2:c.42G>C, NM_080646.1:c.42G>A, NM_080646.1:c.42G>C, NM_080647.1:c.42G>A, NM_080647.1:c.42G>C, NM_001379200.1:c.69G>A, NM_001379200.1:c.69G>C, NM_005992.1:c.42G>A, NM_005992.1:c.42G>C, XM_006724312.3:c.42G>A, XM_006724312.3:c.42G>C, XM_006724312.2:c.42G>A, XM_006724312.2:c.42G>C, XM_006724312.1:c.42G>A, XM_006724312.1:c.42G>C, XM_017028926.2:c.42G>A, XM_017028926.2:c.42G>C, XM_017028926.1:c.42G>A, XM_017028926.1:c.42G>C, XM_017028927.2:c.69G>A, XM_017028927.2:c.69G>C

Select item 14826550398.

rs1482655039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19766684 (GRCh38)
22:19754207 (GRCh37)
Canonical SPDI:: NC_000022.11:19766683:C:T
Gene:: TBX1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000006/1 (GnomAD_exomes)
T=0.000177/3 (TOMMO)
HGVS:: NC_000022.11:g.19766684C>T, NC_000022.10:g.19754207C>T, NG_009229.1:g.14982C>T, NM_080647.1:c.1305C>T, NM_001379200.1:c.1332C>T, XM_006724312.3:c.1305C>T, XM_006724312.2:c.1305C>T, XM_006724312.1:c.1305C>T, XM_017028926.2:c.1305C>T, XM_017028926.1:c.1305C>T, XM_017028927.2:c.1386C>T, XM_017028927.1:c.660C>T

Select item 14821109759.

rs1482110975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:19766549 (GRCh38)
22:19754072 (GRCh37)
Canonical SPDI:: NC_000022.11:19766548:A:C,NC_000022.11:19766548:A:G
Gene:: TBX1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.00002/1 (GnomAD_exomes)
G=0.00096/27 (TOMMO)
HGVS:: NC_000022.11:g.19766549A>C, NC_000022.11:g.19766549A>G, NC_000022.10:g.19754072A>C, NC_000022.10:g.19754072A>G, NG_009229.1:g.14847A>C, NG_009229.1:g.14847A>G, NM_080647.1:c.1170A>C, NM_080647.1:c.1170A>G, NM_001379200.1:c.1197A>C, NM_001379200.1:c.1197A>G, XM_006724312.3:c.1170A>C, XM_006724312.3:c.1170A>G, XM_006724312.2:c.1170A>C, XM_006724312.2:c.1170A>G, XM_006724312.1:c.1170A>C, XM_006724312.1:c.1170A>G, XM_017028926.2:c.1170A>C, XM_017028926.2:c.1170A>G, XM_017028926.1:c.1170A>C, XM_017028926.1:c.1170A>G, XM_017028927.2:c.1251A>C, XM_017028927.2:c.1251A>G, XM_017028927.1:c.525A>C, XM_017028927.1:c.525A>G

Select item 148164296110.

rs1481642961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:19766727 (GRCh38)
22:19754250 (GRCh37)
Canonical SPDI:: NC_000022.11:19766726:G:T
Gene:: TBX1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.19766727G>T, NC_000022.10:g.19754250G>T, NG_009229.1:g.15025G>T, NM_080647.1:c.1348G>T, NM_001379200.1:c.1375G>T, XM_006724312.3:c.1348G>T, XM_006724312.2:c.1348G>T, XM_006724312.1:c.1348G>T, XM_017028926.2:c.1348G>T, XM_017028926.1:c.1348G>T, XM_017028927.2:c.1429G>T, XM_017028927.1:c.703G>T, NP_542378.1:p.Ala450Ser, NP_001366129.1:p.Ala459Ser, XP_006724375.1:p.Ala450Ser, XP_016884415.1:p.Ala450Ser, XP_016884416.2:p.Ala477Ser

Select item 148130620911.

rs1481306209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19766926 (GRCh38)
22:19754449 (GRCh37)
Canonical SPDI:: NC_000022.11:19766925:G:A
Gene:: TBX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.19766926G>A, NC_000022.10:g.19754449G>A, NG_009229.1:g.15224G>A, NM_080647.1:c.*59G>A, NM_001379200.1:c.*59G>A, XM_006724312.3:c.*59G>A, XM_006724312.2:c.*59G>A, XM_006724312.1:c.*59G>A, XM_017028926.2:c.*59G>A, XM_017028926.1:c.*59G>A, XM_017028927.2:c.*59G>A, XM_017028927.1:c.*59G>A

Select item 148068694012.

rs1480686940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:19765915 (GRCh38)
22:19753438 (GRCh37)
Canonical SPDI:: NC_000022.11:19765914:C:A,NC_000022.11:19765914:C:T
Gene:: TBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000023/3 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19765915C>A, NC_000022.11:g.19765915C>T, NC_000022.10:g.19753438C>A, NC_000022.10:g.19753438C>T, NG_009229.1:g.14213C>A, NG_009229.1:g.14213C>T, NM_080646.2:c.922C>A, NM_080646.2:c.922C>T, NM_080646.1:c.922C>A, NM_080646.1:c.922C>T, NM_080647.1:c.922C>A, NM_080647.1:c.922C>T, NM_001379200.1:c.949C>A, NM_001379200.1:c.949C>T, NM_005992.1:c.922C>A, NM_005992.1:c.922C>T, XM_006724312.3:c.922C>A, XM_006724312.3:c.922C>T, XM_006724312.2:c.922C>A, XM_006724312.2:c.922C>T, XM_006724312.1:c.922C>A, XM_006724312.1:c.922C>T, XM_017028926.2:c.922C>A, XM_017028926.2:c.922C>T, XM_017028926.1:c.922C>A, XM_017028926.1:c.922C>T, XM_017028927.2:c.1003C>A, XM_017028927.2:c.1003C>T, XM_017028927.1:c.277C>A, XM_017028927.1:c.277C>T, NP_542377.1:p.Arg308Trp, NP_542378.1:p.Arg308Trp, NP_001366129.1:p.Arg317Trp, NP_005983.1:p.Arg308Trp, XP_006724375.1:p.Arg308Trp, XP_016884415.1:p.Arg308Trp, XP_016884416.2:p.Arg335Trp

Select item 148014135313.

rs1480141353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19763255 (GRCh38)
22:19750778 (GRCh37)
Canonical SPDI:: NC_000022.11:19763254:C:T
Gene:: TBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19763255C>T, NC_000022.10:g.19750778C>T, NG_009229.1:g.11553C>T, NM_080646.2:c.425C>T, NM_080646.1:c.425C>T, NM_080647.1:c.425C>T, NM_001379200.1:c.452C>T, NM_005992.1:c.425C>T, XM_006724312.3:c.425C>T, XM_006724312.2:c.425C>T, XM_006724312.1:c.425C>T, XM_017028926.2:c.425C>T, XM_017028926.1:c.425C>T, XM_017028927.2:c.452C>T, NP_542377.1:p.Thr142Ile, NP_542378.1:p.Thr142Ile, NP_001366129.1:p.Thr151Ile, NP_005983.1:p.Thr142Ile, XP_006724375.1:p.Thr142Ile, XP_016884415.1:p.Thr142Ile, XP_016884416.2:p.Thr151Ile

Select item 147999649214.

rs1479996492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:19766795 (GRCh38)
22:19754318 (GRCh37)
Canonical SPDI:: NC_000022.11:19766794:T:C,NC_000022.11:19766794:T:G
Gene:: TBX1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.19766795T>C, NC_000022.11:g.19766795T>G, NC_000022.10:g.19754318T>C, NC_000022.10:g.19754318T>G, NG_009229.1:g.15093T>C, NG_009229.1:g.15093T>G, NM_080647.1:c.1416T>C, NM_080647.1:c.1416T>G, NM_001379200.1:c.1443T>C, NM_001379200.1:c.1443T>G, XM_006724312.3:c.1416T>C, XM_006724312.3:c.1416T>G, XM_006724312.2:c.1416T>C, XM_006724312.2:c.1416T>G, XM_006724312.1:c.1416T>C, XM_006724312.1:c.1416T>G, XM_017028926.2:c.1416T>C, XM_017028926.2:c.1416T>G, XM_017028926.1:c.1416T>C, XM_017028926.1:c.1416T>G, XM_017028927.2:c.1497T>C, XM_017028927.2:c.1497T>G, XM_017028927.1:c.771T>C, XM_017028927.1:c.771T>G

Select item 147985821515.

rs1479858215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19763313 (GRCh38)
22:19750836 (GRCh37)
Canonical SPDI:: NC_000022.11:19763312:C:T
Gene:: TBX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19763313C>T, NC_000022.10:g.19750836C>T, NG_009229.1:g.11611C>T, NM_080646.2:c.483C>T, NM_080646.1:c.483C>T, NM_080647.1:c.483C>T, NM_001379200.1:c.510C>T, NM_005992.1:c.483C>T, XM_006724312.3:c.483C>T, XM_006724312.2:c.483C>T, XM_006724312.1:c.483C>T, XM_017028926.2:c.483C>T, XM_017028926.1:c.483C>T, XM_017028927.2:c.510C>T

Select item 147953705316.

rs1479537053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:19761091 (GRCh38)
22:19748614 (GRCh37)
Canonical SPDI:: NC_000022.11:19761090:C:A,NC_000022.11:19761090:C:T
Gene:: TBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000574/1 (Korea1K)
HGVS:: NC_000022.11:g.19761091C>A, NC_000022.11:g.19761091C>T, NC_000022.10:g.19748614C>A, NC_000022.10:g.19748614C>T, NG_009229.1:g.9389C>A, NG_009229.1:g.9389C>T, NM_080646.2:c.221C>A, NM_080646.2:c.221C>T, NM_080646.1:c.221C>A, NM_080646.1:c.221C>T, NM_080647.1:c.221C>A, NM_080647.1:c.221C>T, NM_001379200.1:c.248C>A, NM_001379200.1:c.248C>T, NM_005992.1:c.221C>A, NM_005992.1:c.221C>T, XM_006724312.3:c.221C>A, XM_006724312.3:c.221C>T, XM_006724312.2:c.221C>A, XM_006724312.2:c.221C>T, XM_006724312.1:c.221C>A, XM_006724312.1:c.221C>T, XM_017028926.2:c.221C>A, XM_017028926.2:c.221C>T, XM_017028926.1:c.221C>A, XM_017028926.1:c.221C>T, XM_017028927.2:c.248C>A, XM_017028927.2:c.248C>T, NP_542377.1:p.Pro74Gln, NP_542377.1:p.Pro74Leu, NP_542378.1:p.Pro74Gln, NP_542378.1:p.Pro74Leu, NP_001366129.1:p.Pro83Gln, NP_001366129.1:p.Pro83Leu, NP_005983.1:p.Pro74Gln, NP_005983.1:p.Pro74Leu, XP_006724375.1:p.Pro74Gln, XP_006724375.1:p.Pro74Leu, XP_016884415.1:p.Pro74Gln, XP_016884415.1:p.Pro74Leu, XP_016884416.2:p.Pro83Gln, XP_016884416.2:p.Pro83Leu

Select item 147877877617.

rs1478778776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:19761113 (GRCh38)
22:19748636 (GRCh37)
Canonical SPDI:: NC_000022.11:19761112:C:A
Gene:: TBX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19761113C>A, NC_000022.10:g.19748636C>A, NG_009229.1:g.9411C>A, NM_080646.2:c.243C>A, NM_080646.1:c.243C>A, NM_080647.1:c.243C>A, NM_001379200.1:c.270C>A, NM_005992.1:c.243C>A, XM_006724312.3:c.243C>A, XM_006724312.2:c.243C>A, XM_006724312.1:c.243C>A, XM_017028926.2:c.243C>A, XM_017028926.1:c.243C>A, XM_017028927.2:c.270C>A, NP_542377.1:p.Ser81Arg, NP_542378.1:p.Ser81Arg, NP_001366129.1:p.Ser90Arg, NP_005983.1:p.Ser81Arg, XP_006724375.1:p.Ser81Arg, XP_016884415.1:p.Ser81Arg, XP_016884416.2:p.Ser90Arg

Select item 147836277118.

rs1478362771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:19766584 (GRCh38)
22:19754107 (GRCh37)
Canonical SPDI:: NC_000022.11:19766583:T:G
Gene:: TBX1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000022.11:g.19766584T>G, NC_000022.10:g.19754107T>G, NG_009229.1:g.14882T>G, NM_080647.1:c.1205T>G, NM_001379200.1:c.1232T>G, XM_006724312.3:c.1205T>G, XM_006724312.2:c.1205T>G, XM_006724312.1:c.1205T>G, XM_017028926.2:c.1205T>G, XM_017028926.1:c.1205T>G, XM_017028927.2:c.1286T>G, XM_017028927.1:c.560T>G, NP_542378.1:p.Leu402Arg, NP_001366129.1:p.Leu411Arg, XP_006724375.1:p.Leu402Arg, XP_016884415.1:p.Leu402Arg, XP_016884416.2:p.Leu429Arg

Select item 147820711819.

rs1478207118 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCCGC [Show Flanks]
Chromosome:: 22:19766765 (GRCh38)
22:19754289 (GRCh37)
Canonical SPDI:: NC_000022.11:19766765:GCCGCGGCCGC:GCCGCGGCCGCGGCCGC
Gene:: TBX1 (Varview)
Functional Consequence:: inframe_insertion,intron_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: GCCGCGGCCGCGGCCGC=0./0 (ALFA)
GCCGCG=0.000004/1 (TOPMED)
GCCGCG=0.000071/1 (TOMMO)
HGVS:: NC_000022.11:g.19766771_19766776dup, NC_000022.10:g.19754294_19754299dup, NG_009229.1:g.15069_15074dup, NM_080647.1:c.1392_1397dup, NM_001379200.1:c.1419_1424dup, XM_006724312.3:c.1392_1397dup, XM_006724312.2:c.1392_1397dup, XM_006724312.1:c.1392_1397dup, XM_017028926.2:c.1392_1397dup, XM_017028926.1:c.1392_1397dup, XM_017028927.2:c.1473_1478dup, XM_017028927.1:c.747_752dup, NP_542378.1:p.Ala475_Ala476dup, NP_001366129.1:p.Ala484_Ala485dup, XP_006724375.1:p.Ala475_Ala476dup, XP_016884415.1:p.Ala475_Ala476dup, XP_016884416.2:p.Ala502_Ala503dup

Select item 147517489720.

rs1475174897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19766797 (GRCh38)
22:19754320 (GRCh37)
Canonical SPDI:: NC_000022.11:19766796:C:T
Gene:: TBX1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.19766797C>T, NC_000022.10:g.19754320C>T, NG_009229.1:g.15095C>T, NM_080647.1:c.1418C>T, NM_001379200.1:c.1445C>T, XM_006724312.3:c.1418C>T, XM_006724312.2:c.1418C>T, XM_006724312.1:c.1418C>T, XM_017028926.2:c.1418C>T, XM_017028926.1:c.1418C>T, XM_017028927.2:c.1499C>T, XM_017028927.1:c.773C>T, NP_542378.1:p.Ala473Val, NP_001366129.1:p.Ala482Val, XP_006724375.1:p.Ala473Val, XP_016884415.1:p.Ala473Val, XP_016884416.2:p.Ala500Val

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