SNP Links for Nucleotide (Select 1236504965) - SNP

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Select item 14912588921.

rs1491258892 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:145558095 (GRCh38)
4:146479248 (GRCh37)
Canonical SPDI:: NC_000004.12:145558095:A:AA
Gene:: SMAD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000016/2 (GnomAD)
HGVS:: NC_000004.12:g.145558096dup, NC_000004.11:g.146479248dup, NG_042284.1:g.81298dup, NM_005900.3:c.*162dup, NM_005900.2:c.*162dup, NM_001354811.1:c.*162dup, NM_001354816.1:c.*162dup, NM_001354817.1:c.*162dup, NM_001354813.1:c.*162dup, NM_001354814.1:c.*162dup, NM_001354812.1:c.*162dup, NM_001003688.1:c.*162dup, XM_011531962.3:c.*162dup, XM_011531962.1:c.*162dup, XM_011531964.3:c.*162dup, XM_011531964.1:c.*162dup, XM_047415689.1:c.*162dup, XM_047415688.1:c.*162dup, XM_047415691.1:c.*162dup, XM_047415690.1:c.*162dup

Select item 14894776292.

rs1489477629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:145558779 (GRCh38)
4:146479931 (GRCh37)
Canonical SPDI:: NC_000004.12:145558778:G:A
Gene:: SMAD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.145558779G>A, NC_000004.11:g.146479931G>A, NG_042284.1:g.81981G>A, NM_005900.3:c.*845G>A, NM_005900.2:c.*845G>A, NM_001354811.1:c.*845G>A, NM_001354816.1:c.*845G>A, NM_001354817.1:c.*845G>A, NM_001354813.1:c.*845G>A, NM_001354814.1:c.*845G>A, NM_001354812.1:c.*845G>A, NM_001003688.1:c.*845G>A, XM_011531962.3:c.*845G>A, XM_011531962.1:c.*845G>A, XM_011531964.3:c.*845G>A, XM_011531964.1:c.*845G>A, XM_047415689.1:c.*845G>A, XM_047415688.1:c.*845G>A, XM_047415691.1:c.*845G>A, XM_047415690.1:c.*845G>A

Select item 14894545603.

rs1489454560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:145514785 (GRCh38)
4:146435937 (GRCh37)
Canonical SPDI:: NC_000004.12:145514784:C:A
Gene:: SMAD1 (Varview), SMAD1-AS1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.145514785C>A, NC_000004.11:g.146435937C>A, NG_042284.1:g.37987C>A, NM_005900.3:c.172C>A, NM_005900.2:c.172C>A, NM_001354811.1:c.172C>A, NM_001354816.1:c.172C>A, NM_001354817.1:c.172C>A, NM_001354813.1:c.172C>A, NM_001354814.1:c.172C>A, NM_001354812.1:c.172C>A, NM_001003688.1:c.172C>A, XM_011531962.3:c.172C>A, XM_011531962.2:c.172C>A, XM_011531962.1:c.172C>A, XM_011531964.3:c.172C>A, XM_011531964.2:c.172C>A, XM_011531964.1:c.172C>A, XM_047415689.1:c.172C>A, XM_047415688.1:c.172C>A, XM_047415691.1:c.172C>A, XM_047415690.1:c.172C>A, NR_126371.1:n.387G>T, NP_005891.1:p.Pro58Thr, NP_001341740.1:p.Pro58Thr, NP_001341745.1:p.Pro58Thr, NP_001341746.1:p.Pro58Thr, NP_001341742.1:p.Pro58Thr, NP_001341743.1:p.Pro58Thr, NP_001341741.1:p.Pro58Thr, NP_001003688.1:p.Pro58Thr, XP_011530264.1:p.Pro58Thr, XP_011530266.1:p.Pro58Thr, XP_047271645.1:p.Pro58Thr, XP_047271644.1:p.Pro58Thr, XP_047271647.1:p.Pro58Thr, XP_047271646.1:p.Pro58Thr

Select item 14893916544.

rs1489391654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:145542695 (GRCh38)
4:146463847 (GRCh37)
Canonical SPDI:: NC_000004.12:145542694:G:A
Gene:: SMAD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.145542695G>A, NC_000004.11:g.146463847G>A, NG_042284.1:g.65897G>A, NM_005900.3:c.772G>A, NM_005900.2:c.772G>A, NM_001354811.1:c.772G>A, NM_001354816.1:c.772G>A, NM_001354817.1:c.772G>A, NM_001354813.1:c.772G>A, NM_001354814.1:c.772G>A, NM_001354812.1:c.772G>A, NM_001003688.1:c.772G>A, XM_011531962.3:c.772G>A, XM_011531962.2:c.772G>A, XM_011531962.1:c.772G>A, XM_011531964.3:c.772G>A, XM_011531964.2:c.772G>A, XM_011531964.1:c.772G>A, XM_047415689.1:c.772G>A, XM_047415688.1:c.772G>A, XM_047415691.1:c.772G>A, XM_047415690.1:c.772G>A, NP_005891.1:p.Gly258Arg, NP_001341740.1:p.Gly258Arg, NP_001341745.1:p.Gly258Arg, NP_001341746.1:p.Gly258Arg, NP_001341742.1:p.Gly258Arg, NP_001341743.1:p.Gly258Arg, NP_001341741.1:p.Gly258Arg, NP_001003688.1:p.Gly258Arg, XP_011530264.1:p.Gly258Arg, XP_011530266.1:p.Gly258Arg, XP_047271645.1:p.Gly258Arg, XP_047271644.1:p.Gly258Arg, XP_047271647.1:p.Gly258Arg, XP_047271646.1:p.Gly258Arg

Select item 14888026505.

rs1488802650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:145558246 (GRCh38)
4:146479398 (GRCh37)
Canonical SPDI:: NC_000004.12:145558245:T:A
Gene:: SMAD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.145558246T>A, NC_000004.11:g.146479398T>A, NG_042284.1:g.81448T>A, NM_005900.3:c.*312T>A, NM_005900.2:c.*312T>A, NM_001354811.1:c.*312T>A, NM_001354816.1:c.*312T>A, NM_001354817.1:c.*312T>A, NM_001354813.1:c.*312T>A, NM_001354814.1:c.*312T>A, NM_001354812.1:c.*312T>A, NM_001003688.1:c.*312T>A, XM_011531962.3:c.*312T>A, XM_011531962.1:c.*312T>A, XM_011531964.3:c.*312T>A, XM_011531964.1:c.*312T>A, XM_047415689.1:c.*312T>A, XM_047415688.1:c.*312T>A, XM_047415691.1:c.*312T>A, XM_047415690.1:c.*312T>A

Select item 14881377836.

rs1488137783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:145558685 (GRCh38)
4:146479837 (GRCh37)
Canonical SPDI:: NC_000004.12:145558684:C:A,NC_000004.12:145558684:C:G
Gene:: SMAD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.145558685C>A, NC_000004.12:g.145558685C>G, NC_000004.11:g.146479837C>A, NC_000004.11:g.146479837C>G, NG_042284.1:g.81887C>A, NG_042284.1:g.81887C>G, NM_005900.3:c.*751C>A, NM_005900.3:c.*751C>G, NM_005900.2:c.*751C>A, NM_005900.2:c.*751C>G, NM_001354811.1:c.*751C>A, NM_001354811.1:c.*751C>G, NM_001354816.1:c.*751C>A, NM_001354816.1:c.*751C>G, NM_001354817.1:c.*751C>A, NM_001354817.1:c.*751C>G, NM_001354813.1:c.*751C>A, NM_001354813.1:c.*751C>G, NM_001354814.1:c.*751C>A, NM_001354814.1:c.*751C>G, NM_001354812.1:c.*751C>A, NM_001354812.1:c.*751C>G, NM_001003688.1:c.*751C>A, NM_001003688.1:c.*751C>G, XM_011531962.3:c.*751C>A, XM_011531962.3:c.*751C>G, XM_011531962.1:c.*751C>A, XM_011531962.1:c.*751C>G, XM_011531964.3:c.*751C>A, XM_011531964.3:c.*751C>G, XM_011531964.1:c.*751C>A, XM_011531964.1:c.*751C>G, XM_047415689.1:c.*751C>A, XM_047415689.1:c.*751C>G, XM_047415688.1:c.*751C>A, XM_047415688.1:c.*751C>G, XM_047415691.1:c.*751C>A, XM_047415691.1:c.*751C>G, XM_047415690.1:c.*751C>A, XM_047415690.1:c.*751C>G

Select item 14871742227.

rs1487174222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:145559119 (GRCh38)
4:146480271 (GRCh37)
Canonical SPDI:: NC_000004.12:145559118:G:T
Gene:: SMAD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.145559119G>T, NC_000004.11:g.146480271G>T, NG_042284.1:g.82321G>T, NM_005900.3:c.*1185G>T, NM_005900.2:c.*1185G>T, NM_001354811.1:c.*1185G>T, NM_001354816.1:c.*1185G>T, NM_001354817.1:c.*1185G>T, NM_001354813.1:c.*1185G>T, NM_001354814.1:c.*1185G>T, NM_001354812.1:c.*1185G>T, NM_001003688.1:c.*1185G>T, XM_011531962.3:c.*1185G>T, XM_011531962.1:c.*1185G>T, XM_011531964.3:c.*1185G>T, XM_011531964.1:c.*1185G>T, XM_047415689.1:c.*1185G>T, XM_047415688.1:c.*1185G>T, XM_047415691.1:c.*1185G>T, XM_047415690.1:c.*1185G>T

Select item 14861442228.

rs1486144222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:145558870 (GRCh38)
4:146480022 (GRCh37)
Canonical SPDI:: NC_000004.12:145558869:T:A
Gene:: SMAD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000004.12:g.145558870T>A, NC_000004.11:g.146480022T>A, NG_042284.1:g.82072T>A, NM_005900.3:c.*936T>A, NM_005900.2:c.*936T>A, NM_001354811.1:c.*936T>A, NM_001354816.1:c.*936T>A, NM_001354817.1:c.*936T>A, NM_001354813.1:c.*936T>A, NM_001354814.1:c.*936T>A, NM_001354812.1:c.*936T>A, NM_001003688.1:c.*936T>A, XM_011531962.3:c.*936T>A, XM_011531962.1:c.*936T>A, XM_011531964.3:c.*936T>A, XM_011531964.1:c.*936T>A, XM_047415689.1:c.*936T>A, XM_047415688.1:c.*936T>A, XM_047415691.1:c.*936T>A, XM_047415690.1:c.*936T>A

Select item 14854283829.

rs1485428382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:145558640 (GRCh38)
4:146479792 (GRCh37)
Canonical SPDI:: NC_000004.12:145558639:A:G
Gene:: SMAD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.145558640A>G, NC_000004.11:g.146479792A>G, NG_042284.1:g.81842A>G, NM_005900.3:c.*706A>G, NM_005900.2:c.*706A>G, NM_001354811.1:c.*706A>G, NM_001354816.1:c.*706A>G, NM_001354817.1:c.*706A>G, NM_001354813.1:c.*706A>G, NM_001354814.1:c.*706A>G, NM_001354812.1:c.*706A>G, NM_001003688.1:c.*706A>G, XM_011531962.3:c.*706A>G, XM_011531962.1:c.*706A>G, XM_011531964.3:c.*706A>G, XM_011531964.1:c.*706A>G, XM_047415689.1:c.*706A>G, XM_047415688.1:c.*706A>G, XM_047415691.1:c.*706A>G, XM_047415690.1:c.*706A>G

Select item 148379422910.

rs1483794229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:145546749 (GRCh38)
4:146467901 (GRCh37)
Canonical SPDI:: NC_000004.12:145546748:T:C
Gene:: SMAD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145546749T>C, NC_000004.11:g.146467901T>C, NG_042284.1:g.69951T>C, NM_005900.3:c.822T>C, NM_005900.2:c.822T>C, NM_001354811.1:c.822T>C, NM_001354816.1:c.822T>C, NM_001354817.1:c.822T>C, NM_001354813.1:c.822T>C, NM_001354814.1:c.822T>C, NM_001354812.1:c.822T>C, NM_001003688.1:c.822T>C, XM_011531962.3:c.822T>C, XM_011531962.2:c.822T>C, XM_011531962.1:c.822T>C, XM_011531964.3:c.822T>C, XM_011531964.2:c.822T>C, XM_011531964.1:c.822T>C, XM_047415689.1:c.822T>C, XM_047415688.1:c.822T>C, XM_047415691.1:c.822T>C, XM_047415690.1:c.822T>C

Select item 148324417011.

rs1483244170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:145514640 (GRCh38)
4:146435792 (GRCh37)
Canonical SPDI:: NC_000004.12:145514639:T:A
Gene:: SMAD1 (Varview), SMAD1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145514640T>A, NC_000004.11:g.146435792T>A, NG_042284.1:g.37842T>A, NM_005900.3:c.27T>A, NM_005900.2:c.27T>A, NM_001354811.1:c.27T>A, NM_001354816.1:c.27T>A, NM_001354817.1:c.27T>A, NM_001354813.1:c.27T>A, NM_001354814.1:c.27T>A, NM_001354812.1:c.27T>A, NM_001003688.1:c.27T>A, XM_011531962.3:c.27T>A, XM_011531962.2:c.27T>A, XM_011531962.1:c.27T>A, XM_011531964.3:c.27T>A, XM_011531964.2:c.27T>A, XM_011531964.1:c.27T>A, XM_047415689.1:c.27T>A, XM_047415688.1:c.27T>A, XM_047415691.1:c.27T>A, XM_047415690.1:c.27T>A, NR_126371.1:n.532A>T, NP_005891.1:p.Phe9Leu, NP_001341740.1:p.Phe9Leu, NP_001341745.1:p.Phe9Leu, NP_001341746.1:p.Phe9Leu, NP_001341742.1:p.Phe9Leu, NP_001341743.1:p.Phe9Leu, NP_001341741.1:p.Phe9Leu, NP_001003688.1:p.Phe9Leu, XP_011530264.1:p.Phe9Leu, XP_011530266.1:p.Phe9Leu, XP_047271645.1:p.Phe9Leu, XP_047271644.1:p.Phe9Leu, XP_047271647.1:p.Phe9Leu, XP_047271646.1:p.Phe9Leu

Select item 148014482612.

rs1480144826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:145514605 (GRCh38)
4:146435757 (GRCh37)
Canonical SPDI:: NC_000004.12:145514604:G:A
Gene:: SMAD1 (Varview), SMAD1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145514605G>A, NC_000004.11:g.146435757G>A, NG_042284.1:g.37807G>A, NM_005900.3:c.-9G>A, NM_005900.2:c.-9G>A, NM_001354811.1:c.-9G>A, NM_001354816.1:c.-9G>A, NM_001354817.1:c.-9G>A, NM_001354813.1:c.-9G>A, NM_001354814.1:c.-9G>A, NM_001354812.1:c.-9G>A, NM_001003688.1:c.-9G>A, XM_011531962.3:c.-9G>A, XM_011531962.2:c.-9G>A, XM_011531962.1:c.-9G>A, XM_011531964.3:c.-9G>A, XM_011531964.2:c.-9G>A, XM_011531964.1:c.-9G>A, XM_047415689.1:c.-9G>A, XM_047415688.1:c.-9G>A, XM_047415691.1:c.-9G>A, XM_047415690.1:c.-9G>A, NR_126371.1:n.567C>T

Select item 147917371413.

rs1479173714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:145558009 (GRCh38)
4:146479161 (GRCh37)
Canonical SPDI:: NC_000004.12:145558008:T:A
Gene:: SMAD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.145558009T>A, NC_000004.11:g.146479161T>A, NG_042284.1:g.81211T>A, NM_005900.3:c.*75T>A, NM_005900.2:c.*75T>A, NM_001354811.1:c.*75T>A, NM_001354816.1:c.*75T>A, NM_001354817.1:c.*75T>A, NM_001354813.1:c.*75T>A, NM_001354814.1:c.*75T>A, NM_001354812.1:c.*75T>A, NM_001003688.1:c.*75T>A, XM_011531962.3:c.*75T>A, XM_011531962.2:c.*75T>A, XM_011531962.1:c.*75T>A, XM_011531964.3:c.*75T>A, XM_011531964.2:c.*75T>A, XM_011531964.1:c.*75T>A, XM_047415689.1:c.*75T>A, XM_047415688.1:c.*75T>A, XM_047415691.1:c.*75T>A, XM_047415690.1:c.*75T>A

Select item 147723712514.

rs1477237125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:145558869 (GRCh38)
4:146480021 (GRCh37)
Canonical SPDI:: NC_000004.12:145558868:G:A
Gene:: SMAD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.145558869G>A, NC_000004.11:g.146480021G>A, NG_042284.1:g.82071G>A, NM_005900.3:c.*935G>A, NM_005900.2:c.*935G>A, NM_001354811.1:c.*935G>A, NM_001354816.1:c.*935G>A, NM_001354817.1:c.*935G>A, NM_001354813.1:c.*935G>A, NM_001354814.1:c.*935G>A, NM_001354812.1:c.*935G>A, NM_001003688.1:c.*935G>A, XM_011531962.3:c.*935G>A, XM_011531962.1:c.*935G>A, XM_011531964.3:c.*935G>A, XM_011531964.1:c.*935G>A, XM_047415689.1:c.*935G>A, XM_047415688.1:c.*935G>A, XM_047415691.1:c.*935G>A, XM_047415690.1:c.*935G>A

Select item 147526652815.

rs1475266528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:145481652 (GRCh38)
4:146402804 (GRCh37)
Canonical SPDI:: NC_000004.12:145481651:C:G,NC_000004.12:145481651:C:T
Gene:: SMAD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
G=0.000076/20 (TOPMED)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000004.12:g.145481652C>G, NC_000004.12:g.145481652C>T, NC_000004.11:g.146402804C>G, NC_000004.11:g.146402804C>T, NG_042284.1:g.4854C>G, NG_042284.1:g.4854C>T, NM_001354813.1:c.-277C>G, NM_001354813.1:c.-277C>T, NM_001354814.1:c.-269C>G, NM_001354814.1:c.-269C>T, NM_024914.1:c.*263G>C, NM_024914.1:c.*263G>A

Select item 147411646416.

rs1474116464 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>-
Chromosome:: no mapping
Canonical SPDI:

Select item 147382324817.

rs1473823248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:145546767 (GRCh38)
4:146467919 (GRCh37)
Canonical SPDI:: NC_000004.12:145546766:C:T
Gene:: SMAD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145546767C>T, NC_000004.11:g.146467919C>T, NG_042284.1:g.69969C>T, NM_005900.3:c.840C>T, NM_005900.2:c.840C>T, NM_001354811.1:c.840C>T, NM_001354816.1:c.840C>T, NM_001354817.1:c.840C>T, NM_001354813.1:c.840C>T, NM_001354814.1:c.840C>T, NM_001354812.1:c.840C>T, NM_001003688.1:c.840C>T, XM_011531962.3:c.840C>T, XM_011531962.2:c.840C>T, XM_011531962.1:c.840C>T, XM_011531964.3:c.840C>T, XM_011531964.2:c.840C>T, XM_011531964.1:c.840C>T, XM_047415689.1:c.840C>T, XM_047415688.1:c.840C>T, XM_047415691.1:c.840C>T, XM_047415690.1:c.840C>T

Select item 147170814718.

rs1471708147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:145539989 (GRCh38)
4:146461141 (GRCh37)
Canonical SPDI:: NC_000004.12:145539988:C:G
Gene:: SMAD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145539989C>G, NC_000004.11:g.146461141C>G, NG_042284.1:g.63191C>G, NM_005900.3:c.586C>G, NM_005900.2:c.586C>G, NM_001354811.1:c.586C>G, NM_001354816.1:c.586C>G, NM_001354817.1:c.586C>G, NM_001354813.1:c.586C>G, NM_001354814.1:c.586C>G, NM_001354812.1:c.586C>G, NM_001003688.1:c.586C>G, XM_011531962.3:c.586C>G, XM_011531962.2:c.586C>G, XM_011531962.1:c.586C>G, XM_011531964.3:c.586C>G, XM_011531964.2:c.586C>G, XM_011531964.1:c.586C>G, XM_047415689.1:c.586C>G, XM_047415688.1:c.586C>G, XM_047415691.1:c.586C>G, XM_047415690.1:c.586C>G, NM_015583.1:c.223C>G, NP_005891.1:p.Pro196Ala, NP_001341740.1:p.Pro196Ala, NP_001341745.1:p.Pro196Ala, NP_001341746.1:p.Pro196Ala, NP_001341742.1:p.Pro196Ala, NP_001341743.1:p.Pro196Ala, NP_001341741.1:p.Pro196Ala, NP_001003688.1:p.Pro196Ala, XP_011530264.1:p.Pro196Ala, XP_011530266.1:p.Pro196Ala, XP_047271645.1:p.Pro196Ala, XP_047271644.1:p.Pro196Ala, XP_047271647.1:p.Pro196Ala, XP_047271646.1:p.Pro196Ala

Select item 147124951319.

rs1471249513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:145481669 (GRCh38)
4:146402821 (GRCh37)
Canonical SPDI:: NC_000004.12:145481668:C:A,NC_000004.12:145481668:C:G,NC_000004.12:145481668:C:T
Gene:: SMAD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.145481669C>A, NC_000004.12:g.145481669C>G, NC_000004.12:g.145481669C>T, NC_000004.11:g.146402821C>A, NC_000004.11:g.146402821C>G, NC_000004.11:g.146402821C>T, NG_042284.1:g.4871C>A, NG_042284.1:g.4871C>G, NG_042284.1:g.4871C>T, NM_001354813.1:c.-260C>A, NM_001354813.1:c.-260C>G, NM_001354813.1:c.-260C>T, NM_001354814.1:c.-252C>A, NM_001354814.1:c.-252C>G, NM_001354814.1:c.-252C>T, NM_024914.1:c.*246G>T, NM_024914.1:c.*246G>C, NM_024914.1:c.*246G>A

Select item 146989332820.

rs1469893328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:145557953 (GRCh38)
4:146479105 (GRCh37)
Canonical SPDI:: NC_000004.12:145557952:C:T
Gene:: SMAD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145557953C>T, NC_000004.11:g.146479105C>T, NG_042284.1:g.81155C>T, NM_005900.3:c.*19C>T, NM_005900.2:c.*19C>T, NM_001354811.1:c.*19C>T, NM_001354816.1:c.*19C>T, NM_001354817.1:c.*19C>T, NM_001354813.1:c.*19C>T, NM_001354814.1:c.*19C>T, NM_001354812.1:c.*19C>T, NM_001003688.1:c.*19C>T, XM_011531962.3:c.*19C>T, XM_011531962.2:c.*19C>T, XM_011531962.1:c.*19C>T, XM_011531964.3:c.*19C>T, XM_011531964.2:c.*19C>T, XM_011531964.1:c.*19C>T, XM_047415689.1:c.*19C>T, XM_047415688.1:c.*19C>T, XM_047415691.1:c.*19C>T, XM_047415690.1:c.*19C>T

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