SNP Links for Nucleotide (Select 296923828) - SNP

Links from Nucleotide

Items: 1 to 20 of 1482

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Select item 14906729971.

rs1490672997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:128053715 (GRCh38)
X:127187694 (GRCh37)
Canonical SPDI:: NC_000023.11:128053714:T:C
Gene:: ACTRT1 (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=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.128053715T>C, NC_000023.10:g.127187694T>C, NG_021358.1:g.3689A>G

Select item 14906470202.

rs1490647020 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTT>- [Show Flanks]
Chromosome:: X:128055027 (GRCh38)
X:127189006 (GRCh37)
Canonical SPDI:: NC_000023.11:128055024:TTATTT:TT
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.128055027_128055030del, NC_000023.10:g.127189006_127189009del, NG_021358.1:g.2376_2379del

Select item 14905378513.

rs1490537851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:128050488 (GRCh38)
X:127184467 (GRCh37)
Canonical SPDI:: NC_000023.11:128050487:A:C
Gene:: ACTRT1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000132/2 (ALFA)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.128050488A>C, NC_000023.10:g.127184467A>C, NG_021358.1:g.6916T>G

Select item 14904452424.

rs1490445242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:128053774 (GRCh38)
X:127187753 (GRCh37)
Canonical SPDI:: NC_000023.11:128053773:C:A,NC_000023.11:128053773:C:T
Gene:: ACTRT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.128053774C>A, NC_000023.11:g.128053774C>T, NC_000023.10:g.127187753C>A, NC_000023.10:g.127187753C>T, NG_021358.1:g.3630G>T, NG_021358.1:g.3630G>A

Select item 14901865635.

rs1490186563 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:128053345 (GRCh38)
X:127187324 (GRCh37)
Canonical SPDI:: NC_000023.11:128053344:T:C
Gene:: ACTRT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.128053345T>C, NC_000023.10:g.127187324T>C, NG_021358.1:g.4059A>G

Select item 14896099216.

rs1489609921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:128051489 (GRCh38)
X:127185468 (GRCh37)
Canonical SPDI:: NC_000023.11:128051488:C:A,NC_000023.11:128051488:C:T
Gene:: ACTRT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.128051489C>A, NC_000023.11:g.128051489C>T, NC_000023.10:g.127185468C>A, NC_000023.10:g.127185468C>T, NG_021358.1:g.5915G>T, NG_021358.1:g.5915G>A, NM_138289.4:c.718G>T, NM_138289.4:c.718G>A, NM_138289.3:c.718G>T, NM_138289.3:c.718G>A, NP_612146.1:p.Ala240Ser, NP_612146.1:p.Ala240Thr

Select item 14895818277.

rs1489581827 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:128052200 (GRCh38)
X:127186179 (GRCh37)
Canonical SPDI:: NC_000023.11:128052199:T:A
Gene:: ACTRT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.128052200T>A, NC_000023.10:g.127186179T>A, NG_021358.1:g.5204A>T, NM_138289.4:c.7A>T, NM_138289.3:c.7A>T, NP_612146.1:p.Asn3Tyr

Select item 14889893828.

rs1488989382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:128051023 (GRCh38)
X:127185002 (GRCh37)
Canonical SPDI:: NC_000023.11:128051022:A:G
Gene:: ACTRT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.128051023A>G, NC_000023.10:g.127185002A>G, NG_021358.1:g.6381T>C, NM_138289.4:c.*53T>C, NM_138289.3:c.*53T>C

Select item 14886989579.

rs1488698957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:128057117 (GRCh38)
X:127191096 (GRCh37)
Canonical SPDI:: NC_000023.11:128057116:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
T=0.003091/9 (KOREAN)
HGVS:: NC_000023.11:g.128057117C>T, NC_000023.10:g.127191096C>T, NG_021358.1:g.287G>A

Select item 148785103410.

rs1487851034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:128053558 (GRCh38)
X:127187537 (GRCh37)
Canonical SPDI:: NC_000023.11:128053557:G:A
Gene:: ACTRT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.128053558G>A, NC_000023.10:g.127187537G>A, NG_021358.1:g.3846C>T

Select item 148614089811.

rs1486140898 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:128053195 (GRCh38)
X:127187174 (GRCh37)
Canonical SPDI:: NC_000023.11:128053194:A:C
Gene:: ACTRT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.128053195A>C, NC_000023.10:g.127187174A>C, NG_021358.1:g.4209T>G

Select item 148605853812.

rs1486058538 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: X:128049005 (GRCh38)
X:127182984 (GRCh37)
Canonical SPDI:: NC_000023.11:128049004:TTT:TT
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000057/15 (TOPMED)
-=0.000087/9 (GnomAD)
HGVS:: NC_000023.11:g.128049007del, NC_000023.10:g.127182986del, NG_021358.1:g.8399del

Select item 148539894513.

rs1485398945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:128049313 (GRCh38)
X:127183292 (GRCh37)
Canonical SPDI:: NC_000023.11:128049312:T:C
HGVS:: NC_000023.11:g.128049313T>C, NC_000023.10:g.127183292T>C, NG_021358.1:g.8091A>G

Select item 148539412414.

rs1485394124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:128055844 (GRCh38)
X:127189823 (GRCh37)
Canonical SPDI:: NC_000023.11:128055843:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.128055844G>A, NC_000023.10:g.127189823G>A, NG_021358.1:g.1560C>T

Select item 148538877215.

rs1485388772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:128050397 (GRCh38)
X:127184376 (GRCh37)
Canonical SPDI:: NC_000023.11:128050396:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.128050397C>T, NC_000023.10:g.127184376C>T, NG_021358.1:g.7007G>A

Select item 148490694316.

rs1484906943 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:128053285 (GRCh38)
X:127187264 (GRCh37)
Canonical SPDI:: NC_000023.11:128053284:A:
Gene:: ACTRT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000029/3 (GnomAD)
-=0.000057/15 (TOPMED)
HGVS:: NC_000023.11:g.128053285del, NC_000023.10:g.127187264del, NG_021358.1:g.4119del

Select item 148440502117.

rs1484405021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:128049599 (GRCh38)
X:127183578 (GRCh37)
Canonical SPDI:: NC_000023.11:128049598:C:A,NC_000023.11:128049598:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.128049599C>A, NC_000023.11:g.128049599C>T, NC_000023.10:g.127183578C>A, NC_000023.10:g.127183578C>T, NG_021358.1:g.7805G>T, NG_021358.1:g.7805G>A

Select item 148423560418.

rs1484235604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:128050420 (GRCh38)
X:127184399 (GRCh37)
Canonical SPDI:: NC_000023.11:128050419:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.128050420A>G, NC_000023.10:g.127184399A>G, NG_021358.1:g.6984T>C

Select item 148399003619.

rs1483990036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:128057074 (GRCh38)
X:127191053 (GRCh37)
Canonical SPDI:: NC_000023.11:128057073:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.128057074C>T, NC_000023.10:g.127191053C>T, NG_021358.1:g.330G>A

Select item 148300880520.

rs1483008805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:128048966 (GRCh38)
X:127182945 (GRCh37)
Canonical SPDI:: NC_000023.11:128048965:A:T
Validated:: by frequency,by alfa
MAF:: T=0.000066/1 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.128048966A>T, NC_000023.10:g.127182945A>T, NG_021358.1:g.8438T>A

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