SNP Links for Nucleotide (Select 254911137) - SNP

Links from Nucleotide

Items: 1 to 20 of 2017

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Select item 14909056541.

rs1490905654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:47588526 (GRCh38)
X:47447925 (GRCh37)
Canonical SPDI:: NC_000023.11:47588525:G:A,NC_000023.11:47588525:G:C
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.47588526G>A, NC_000023.11:g.47588526G>C, NC_000023.10:g.47447925G>A, NC_000023.10:g.47447925G>C, NG_008437.1:g.36332C>T, NG_008437.1:g.36332C>G, NG_012533.1:g.11236G>A, NG_012533.1:g.11236G>C

Select item 14902864192.

rs1490286419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47581892 (GRCh38)
X:47441291 (GRCh37)
Canonical SPDI:: NC_000023.11:47581891:G:A
Gene:: SYN1 (Varview), TIMP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.47581892G>A, NC_000023.10:g.47441291G>A, NG_008437.1:g.42966C>T, NG_012533.1:g.4602G>A

Select item 14898281453.

rs1489828145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:47580423 (GRCh38)
X:47439822 (GRCh37)
Canonical SPDI:: NC_000023.11:47580422:G:C
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.00006/16 (TOPMED)
C=0.000069/7 (GnomAD)
HGVS:: NC_000023.11:g.47580423G>C, NC_000023.10:g.47439822G>C, NG_008437.1:g.44435C>G, NG_012533.1:g.3133G>C

Select item 14890474624.

rs1489047462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47585681 (GRCh38)
X:47445080 (GRCh37)
Canonical SPDI:: NC_000023.11:47585680:C:T
Gene:: SYN1 (Varview), TIMP1 (Varview), MIR4769 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.47585681C>T, NC_000023.10:g.47445080C>T, NG_008437.1:g.39177G>A, NG_012533.1:g.8391C>T

Select item 14889332595.

rs1488933259 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGG [Show Flanks]
Chromosome:: X:47580789 (GRCh38)
X:47440189 (GRCh37)
Canonical SPDI:: NC_000023.11:47580789:GGGGG:GGGGGGGG
Gene:: SYN1 (Varview), TIMP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGGG=0./0 (ALFA)
GGG=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47580792_47580794dup, NC_000023.10:g.47440191_47440193dup, NG_008437.1:g.44066_44068dup, NG_012533.1:g.3502_3504dup

Select item 14887412386.

rs1488741238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47579378 (GRCh38)
X:47438777 (GRCh37)
Canonical SPDI:: NC_000023.11:47579377:C:T
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.47579378C>T, NC_000023.10:g.47438777C>T, NG_008437.1:g.45480G>A, NG_012533.1:g.2088C>T, NG_070968.1:g.33C>T

Select item 14886381347.

rs1488638134 [Homo sapiens]

Variant type:: DEL
Alleles:: GCT>- [Show Flanks]
Chromosome:: X:47585609 (GRCh38)
X:47445008 (GRCh37)
Canonical SPDI:: NC_000023.11:47585608:GCT:
Gene:: SYN1 (Varview), TIMP1 (Varview), MIR4769 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0008/7 (ALFA)
HGVS:: NC_000023.11:g.47585609_47585611del, NC_000023.10:g.47445008_47445010del, NG_008437.1:g.39247_39249del, NG_012533.1:g.8319_8321del, NM_003254.3:c.395_397del, NM_003254.2:c.395_397del, NP_003245.1:p.Ser132_Leu133delinsIle

Select item 14884716468.

rs1488471646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:47584718 (GRCh38)
X:47444117 (GRCh37)
Canonical SPDI:: NC_000023.11:47584717:A:C
Gene:: SYN1 (Varview), TIMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.47584718A>C, NC_000023.10:g.47444117A>C, NG_008437.1:g.40140T>G, NG_012533.1:g.7428A>C

Select item 14883195409.

rs1488319540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:47583102 (GRCh38)
X:47442501 (GRCh37)
Canonical SPDI:: NC_000023.11:47583101:C:A,NC_000023.11:47583101:C:T
Gene:: SYN1 (Varview), TIMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.47583102C>A, NC_000023.11:g.47583102C>T, NC_000023.10:g.47442501C>A, NC_000023.10:g.47442501C>T, NG_008437.1:g.41756G>T, NG_008437.1:g.41756G>A, NG_012533.1:g.5812C>A, NG_012533.1:g.5812C>T

Select item 148819940810.

rs1488199408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:47579525 (GRCh38)
X:47438924 (GRCh37)
Canonical SPDI:: NC_000023.11:47579524:C:A
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.47579525C>A, NC_000023.10:g.47438924C>A, NG_008437.1:g.45333G>T, NG_012533.1:g.2235C>A, NG_070968.1:g.180C>A

Select item 148816455711.

rs1488164557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47578758 (GRCh38)
X:47438157 (GRCh37)
Canonical SPDI:: NC_000023.11:47578757:G:A
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
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.47578758G>A, NC_000023.10:g.47438157G>A, NG_008437.1:g.46100C>T, NG_012533.1:g.1468G>A

Select item 148779988512.

rs1487799885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47587116 (GRCh38)
X:47446515 (GRCh37)
Canonical SPDI:: NC_000023.11:47587115:G:A
Gene:: SYN1 (Varview), TIMP1 (Varview), MIR4769 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.47587116G>A, NC_000023.10:g.47446515G>A, NG_008437.1:g.37742C>T, NG_012533.1:g.9826G>A

Select item 148690768913.

rs1486907689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47581569 (GRCh38)
X:47440968 (GRCh37)
Canonical SPDI:: NC_000023.11:47581568:G:A
Gene:: SYN1 (Varview), TIMP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
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.47581569G>A, NC_000023.10:g.47440968G>A, NG_008437.1:g.43289C>T, NG_012533.1:g.4279G>A

Select item 148667333014.

rs1486673330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47582589 (GRCh38)
X:47441988 (GRCh37)
Canonical SPDI:: NC_000023.11:47582588:G:A
Gene:: SYN1 (Varview), TIMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.47582589G>A, NC_000023.10:g.47441988G>A, NG_008437.1:g.42269C>T, NG_012533.1:g.5299G>A

Select item 148662296315.

rs1486622963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47578120 (GRCh38)
X:47437519 (GRCh37)
Canonical SPDI:: NC_000023.11:47578119:G:A
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.47578120G>A, NC_000023.10:g.47437519G>A, NG_008437.1:g.46738C>T, NG_012533.1:g.830G>A

Select item 148568085016.

rs1485680850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47583294 (GRCh38)
X:47442693 (GRCh37)
Canonical SPDI:: NC_000023.11:47583293:T:C
Gene:: SYN1 (Varview), TIMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.47583294T>C, NC_000023.10:g.47442693T>C, NG_008437.1:g.41564A>G, NG_012533.1:g.6004T>C

Select item 148491199317.

rs1484911993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47588384 (GRCh38)
X:47447783 (GRCh37)
Canonical SPDI:: NC_000023.11:47588383:C:T
Gene:: SYN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.47588384C>T, NC_000023.10:g.47447783C>T, NG_008437.1:g.36474G>A, NG_012533.1:g.11094C>T

Select item 148483912818.

rs1484839128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:47586538 (GRCh38)
X:47445937 (GRCh37)
Canonical SPDI:: NC_000023.11:47586537:C:G
Gene:: SYN1 (Varview), TIMP1 (Varview), MIR4769 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
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.47586538C>G, NC_000023.10:g.47445937C>G, NG_008437.1:g.38320G>C, NG_012533.1:g.9248C>G, NM_003254.3:c.471C>G, NM_003254.2:c.471C>G

Select item 148471468819.

rs1484714688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47582293 (GRCh38)
X:47441692 (GRCh37)
Canonical SPDI:: NC_000023.11:47582292:T:C
Gene:: SYN1 (Varview), TIMP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.47582293T>C, NC_000023.10:g.47441692T>C, NG_008437.1:g.42565A>G, NG_012533.1:g.5003T>C, NM_003254.2:c.-190T>C

Select item 148467180220.

rs1484671802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47581381 (GRCh38)
X:47440780 (GRCh37)
Canonical SPDI:: NC_000023.11:47581380:T:C
Gene:: SYN1 (Varview), TIMP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.47581381T>C, NC_000023.10:g.47440780T>C, NG_008437.1:g.43477A>G, NG_012533.1:g.4091T>C

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