SNP Links for Nucleotide (Select 254911141) - SNP

Links from Nucleotide

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Select item 14915512401.

rs1491551240 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G,T [Show Flanks]
Chromosome:: X:85260606 (GRCh38)
X:84515613 (GRCh37)
Canonical SPDI:: NC_000023.11:85260606::A,NC_000023.11:85260606::G,NC_000023.11:85260606::T
Gene:: ZNF711 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.85260606_85260607insA, NC_000023.11:g.85260606_85260607insG, NC_000023.11:g.85260606_85260607insT, NC_000023.10:g.84515612_84515613insA, NC_000023.10:g.84515612_84515613insG, NC_000023.10:g.84515612_84515613insT, NG_012535.1:g.21616_21617insA, NG_012535.1:g.21616_21617insG, NG_012535.1:g.21616_21617insT

Select item 14915197602.

rs1491519760 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAG [Show Flanks]
Chromosome:: X:85248185 (GRCh38)
X:84503192 (GRCh37)
Canonical SPDI:: NC_000023.11:85248185::AAAG
Gene:: ZNF711 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: AAAG=0.00007/7 (GnomAD)
HGVS:: NC_000023.11:g.85248185_85248186insAAAG, NC_000023.10:g.84503191_84503192insAAAG, NG_016590.2:g.594_595insCTTT, NG_012535.1:g.9195_9196insAAAG

Select item 14914259663.

rs1491425966 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: X:85248187 (GRCh38)
X:84503193 (GRCh37)
Canonical SPDI:: NC_000023.11:85248184:AGAG:AG
Gene:: ZNF711 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.003784/70 (ALFA)
-=0.001457/7 (1000Genomes)
-=0.003591/362 (GnomAD)
HGVS:: NC_000023.11:g.85248185AG[1], NC_000023.10:g.84503191AG[1], NG_016590.2:g.592CT[1], NG_012535.1:g.9195AG[1]

Select item 14912593494.

rs1491259349 has merged into rs1224478211 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: X:85274373 (GRCh38)
X:84529379 (GRCh37)
Canonical SPDI:: NC_000023.11:85274362:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:85274362:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:85274362:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:85274362:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:85274362:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:85274362:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:85274362:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:85274362:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:85274362:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:85274362:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.00006/16 (TOPMED)
HGVS:: NC_000023.11:g.85274373_85274379del, NC_000023.11:g.85274374_85274379del, NC_000023.11:g.85274376_85274379del, NC_000023.11:g.85274377_85274379del, NC_000023.11:g.85274378_85274379del, NC_000023.11:g.85274379del, NC_000023.11:g.85274379dup, NC_000023.11:g.85274378_85274379dup, NC_000023.11:g.85274377_85274379dup, NC_000023.11:g.85274375_85274379dup, NC_000023.10:g.84529379_84529385del, NC_000023.10:g.84529380_84529385del, NC_000023.10:g.84529382_84529385del, NC_000023.10:g.84529383_84529385del, NC_000023.10:g.84529384_84529385del, NC_000023.10:g.84529385del, NC_000023.10:g.84529385dup, NC_000023.10:g.84529384_84529385dup, NC_000023.10:g.84529383_84529385dup, NC_000023.10:g.84529381_84529385dup, NG_012535.1:g.35383_35389del, NG_012535.1:g.35384_35389del, NG_012535.1:g.35386_35389del, NG_012535.1:g.35387_35389del, NG_012535.1:g.35388_35389del, NG_012535.1:g.35389del, NG_012535.1:g.35389dup, NG_012535.1:g.35388_35389dup, NG_012535.1:g.35387_35389dup, NG_012535.1:g.35385_35389dup

Select item 14911365075.

rs1491136507 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: X:85274363 (GRCh38)
X:84529370 (GRCh37)
Canonical SPDI:: NC_000023.11:85274363::G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00007/1 (ALFA)
G=0.00015/9 (GnomAD)
G=0.00325/37 (TOMMO)
HGVS:: NC_000023.11:g.85274363_85274364insG, NC_000023.10:g.84529369_84529370insG, NG_012535.1:g.35373_35374insG

Select item 14907760656.

rs1490776065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:85253422 (GRCh38)
X:84508428 (GRCh37)
Canonical SPDI:: NC_000023.11:85253421:G:A
Gene:: ZNF711 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.85253422G>A, NC_000023.10:g.84508428G>A, NG_012535.1:g.14432G>A

Select item 14904720107.

rs1490472010 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:85255751 (GRCh38)
X:84510757 (GRCh37)
Canonical SPDI:: NC_000023.11:85255750:A:G
Gene:: ZNF711 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.85255751A>G, NC_000023.10:g.84510757A>G, NG_012535.1:g.16761A>G, NM_021998.5:c.572A>G, NM_021998.4:c.572A>G, NM_001330574.2:c.572A>G, NM_001330574.1:c.572A>G, XM_011531023.4:c.584A>G, XM_011531023.3:c.584A>G, XM_011531023.2:c.584A>G, XM_011531023.1:c.584A>G, XM_011531019.2:c.584A>G, XM_011531019.1:c.584A>G, XM_011531025.2:c.584A>G, XM_011531025.1:c.584A>G, XM_011531021.2:c.584A>G, XM_011531021.1:c.584A>G, XM_011531020.2:c.584A>G, XM_011531020.1:c.584A>G, XM_011531022.2:c.584A>G, XM_011531022.1:c.584A>G, XM_005262187.2:c.572A>G, XM_005262187.1:c.572A>G, XM_005262188.2:c.572A>G, XM_005262188.1:c.572A>G, XM_017029809.2:c.572A>G, XM_017029809.1:c.572A>G, XM_047442465.1:c.572A>G, XM_047442469.1:c.572A>G, XM_047442467.1:c.572A>G, XM_047442466.1:c.572A>G, NM_001375433.1:c.572A>G, XM_047442464.1:c.572A>G, NM_001375435.1:c.572A>G, NM_001375432.1:c.572A>G, NM_001375436.1:c.572A>G, NM_001375437.1:c.572A>G, XM_047442468.1:c.572A>G, NM_001375434.1:c.572A>G, XM_047442462.1:c.584A>G, NM_001375431.1:c.572A>G, XM_047442470.1:c.572A>G, NP_068838.3:p.Asp191Gly, NP_001317503.1:p.Asp191Gly, XP_011529325.1:p.Asp195Gly, XP_011529321.1:p.Asp195Gly, XP_011529327.1:p.Asp195Gly, XP_011529323.1:p.Asp195Gly, XP_011529322.1:p.Asp195Gly, XP_011529324.1:p.Asp195Gly, XP_005262244.1:p.Asp191Gly, XP_005262245.1:p.Asp191Gly, XP_016885298.1:p.Asp191Gly, XP_047298421.1:p.Asp191Gly, XP_047298425.1:p.Asp191Gly, XP_047298423.1:p.Asp191Gly, XP_047298422.1:p.Asp191Gly, NP_001362362.1:p.Asp191Gly, XP_047298420.1:p.Asp191Gly, NP_001362364.1:p.Asp191Gly, NP_001362361.1:p.Asp191Gly, NP_001362365.1:p.Asp191Gly, NP_001362366.1:p.Asp191Gly, XP_047298424.1:p.Asp191Gly, NP_001362363.1:p.Asp191Gly, XP_047298418.1:p.Asp195Gly, NP_001362360.1:p.Asp191Gly, XP_047298426.1:p.Asp191Gly

Select item 14901843668.

rs1490184366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:85244086 (GRCh38)
X:84499092 (GRCh37)
Canonical SPDI:: NC_000023.11:85244085:C:T
Gene:: ZNF711 (Varview), SATL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.85244086C>T, NC_000023.10:g.84499092C>T, NG_016590.2:g.4694G>A, NG_012535.1:g.5096C>T, NM_021998.5:c.-252C>T, NM_021998.4:c.-252C>T, NM_001330574.2:c.-511C>T, NM_001330574.1:c.-511C>T, XM_011531023.4:c.-252C>T, XM_011531023.3:c.-252C>T, XM_011531023.1:c.-252C>T, XM_011531019.2:c.-869C>T, XM_011531019.1:c.-869C>T, XM_011531025.2:c.-869C>T, XM_011531025.1:c.-869C>T, XM_011531021.2:c.-511C>T, XM_011531021.1:c.-511C>T, XM_011531020.2:c.-506C>T, XM_011531020.1:c.-506C>T, XM_011531022.2:c.-395C>T, XM_011531022.1:c.-395C>T, XM_005262187.2:c.-395C>T, XM_005262187.1:c.-395C>T, XM_005262188.2:c.-252C>T, XM_005262188.1:c.-252C>T, XM_017029809.2:c.-132C>T, XM_017029809.1:c.-132C>T, XM_047442465.1:c.-1413C>T, XM_047442469.1:c.-1418C>T, XM_047442467.1:c.-1413C>T, NM_001375433.1:c.-869C>T, NM_001375435.1:c.-869C>T, NM_001375432.1:c.-506C>T, NM_001375436.1:c.-511C>T, NM_001375437.1:c.-506C>T, NM_001375434.1:c.-395C>T, XM_047442462.1:c.-132C>T, NM_001375431.1:c.-132C>T

Select item 14901330819.

rs1490133081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:85244956 (GRCh38)
X:84499962 (GRCh37)
Canonical SPDI:: NC_000023.11:85244955:C:T
Gene:: ZNF711 (Varview), SATL1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000142/2 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.85244956C>T, NC_000023.10:g.84499962C>T, NG_016590.2:g.3824G>A, NG_012535.1:g.5966C>T

Select item 149010061110.

rs1490100611 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATT>- [Show Flanks]
Chromosome:: X:85265060 (GRCh38)
X:84520066 (GRCh37)
Canonical SPDI:: NC_000023.11:85265056:ATTAATT:ATT
Gene:: ZNF711 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATT=0./0 (ALFA)
-=0.000019/2 (GnomAD)
-=0.000064/17 (TOPMED)
HGVS:: NC_000023.11:g.85265060_85265063del, NC_000023.10:g.84520066_84520069del, NG_012535.1:g.26070_26073del

Select item 149004442211.

rs1490044422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:85266908 (GRCh38)
X:84521914 (GRCh37)
Canonical SPDI:: NC_000023.11:85266907:G:C
Gene:: ZNF711 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.85266908G>C, NC_000023.10:g.84521914G>C, NG_012535.1:g.27918G>C

Select item 149002200312.

rs1490022003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:85243588 (GRCh38)
X:84498594 (GRCh37)
Canonical SPDI:: NC_000023.11:85243587:C:T
Gene:: ZNF711 (Varview), SATL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.85243588C>T, NC_000023.10:g.84498594C>T, NG_016590.2:g.5192G>A, NM_001367858.2:c.-896G>A, NM_001367858.1:c.-896G>A, NM_001367857.2:c.-435G>A, NM_001367857.1:c.-435G>A, NG_012535.1:g.4598C>T

Select item 149001004613.

rs1490010046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:85254549 (GRCh38)
X:84509555 (GRCh37)
Canonical SPDI:: NC_000023.11:85254548:G:C
Gene:: ZNF711 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000015/1 (GnomAD)
HGVS:: NC_000023.11:g.85254549G>C, NC_000023.10:g.84509555G>C, NG_012535.1:g.15559G>C

Select item 148988267914.

rs1489882679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:85266080 (GRCh38)
X:84521086 (GRCh37)
Canonical SPDI:: NC_000023.11:85266079:T:C
Gene:: ZNF711 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.85266080T>C, NC_000023.10:g.84521086T>C, NG_012535.1:g.27090T>C

Select item 148967506615.

rs1489675066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:85254309 (GRCh38)
X:84509315 (GRCh37)
Canonical SPDI:: NC_000023.11:85254308:A:G
Gene:: ZNF711 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.85254309A>G, NC_000023.10:g.84509315A>G, NG_012535.1:g.15319A>G

Select item 148959136916.

rs1489591369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:85249499 (GRCh38)
X:84504505 (GRCh37)
Canonical SPDI:: NC_000023.11:85249498:T:A
Gene:: ZNF711 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.85249499T>A, NC_000023.10:g.84504505T>A, NG_012535.1:g.10509T>A

Select item 148956856917.

rs1489568569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:85273279 (GRCh38)
X:84528285 (GRCh37)
Canonical SPDI:: NC_000023.11:85273278:G:C
Gene:: ZNF711 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.85273279G>C, NC_000023.10:g.84528285G>C, NG_012535.1:g.34289G>C, NM_021998.5:c.*1451G>C, NM_021998.4:c.*1451G>C, NM_001330574.2:c.*1451G>C, NM_001330574.1:c.*1451G>C, XM_011531023.4:c.*1451G>C, XM_011531023.3:c.*1451G>C, XM_011531023.2:c.*1451G>C, XM_011531023.1:c.*1451G>C, XM_011531019.2:c.*1451G>C, XM_011531019.1:c.*1451G>C, XM_011531025.2:c.*1451G>C, XM_011531025.1:c.*1451G>C, XM_011531021.2:c.*1451G>C, XM_011531021.1:c.*1451G>C, XM_011531020.2:c.*1451G>C, XM_011531020.1:c.*1451G>C, XM_011531022.2:c.*1451G>C, XM_011531022.1:c.*1451G>C, XM_005262187.2:c.*1451G>C, XM_005262187.1:c.*1451G>C, XM_005262188.2:c.*1451G>C, XM_005262188.1:c.*1451G>C, XM_017029809.2:c.*1451G>C, XM_017029809.1:c.*1451G>C, XM_047442465.1:c.*1451G>C, XM_047442469.1:c.*1451G>C, XM_047442467.1:c.*1451G>C, XM_047442466.1:c.*1451G>C, NM_001375433.1:c.*1451G>C, XM_047442464.1:c.*1451G>C, NM_001375435.1:c.*1451G>C, NM_001375432.1:c.*1451G>C, NM_001375436.1:c.*1451G>C, NM_001375437.1:c.*1451G>C, XM_047442468.1:c.*1451G>C, NM_001375434.1:c.*1451G>C, XM_047442462.1:c.*1451G>C, NM_001375431.1:c.*1451G>C, XM_047442470.1:c.*1451G>C

Select item 148953848518.

rs1489538485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:85274675 (GRCh38)
X:84529681 (GRCh37)
Canonical SPDI:: NC_000023.11:85274674:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.85274675T>G, NC_000023.10:g.84529681T>G, NG_012535.1:g.35685T>G

Select item 148950407619.

rs1489504076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:85270170 (GRCh38)
X:84525176 (GRCh37)
Canonical SPDI:: NC_000023.11:85270169:T:C
Gene:: ZNF711 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.85270170T>C, NC_000023.10:g.84525176T>C, NG_012535.1:g.31180T>C

Select item 148946322320.

rs1489463223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:85248301 (GRCh38)
X:84503307 (GRCh37)
Canonical SPDI:: NC_000023.11:85248300:C:G
Gene:: ZNF711 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000285/4 (ALFA)
G=0.000199/20 (GnomAD)
G=0.000227/60 (TOPMED)
HGVS:: NC_000023.11:g.85248301C>G, NC_000023.10:g.84503307C>G, NG_016590.2:g.479G>C, NG_012535.1:g.9311C>G

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