SNP Links for Nucleotide (Select 224586939) - SNP

Links from Nucleotide

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Select item 14909329111.

rs1490932911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:108732598 (GRCh38)
X:107975828 (GRCh37)
Canonical SPDI:: NC_000023.11:108732597:C:G
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108732598C>G, NC_000023.10:g.107975828C>G, NG_013239.1:g.8780G>C, NM_003604.2:c.3747G>C, NM_001379150.1:c.3747G>C, XM_006724713.4:c.3747G>C, XM_006724713.3:c.3747G>C, XM_006724713.2:c.3747G>C, XM_006724713.1:c.3747G>C, XM_011531061.2:c.3747G>C, XM_011531061.1:c.3747G>C, NP_003595.1:p.Gln1249His, NP_001366079.1:p.Gln1249His, XP_006724776.1:p.Gln1249His, XP_011529363.1:p.Gln1249His

Select item 14901190282.

rs1490119028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:108732978 (GRCh38)
X:107976208 (GRCh37)
Canonical SPDI:: NC_000023.11:108732977:C:T
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000011/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.00009/2 (TOMMO)
HGVS:: NC_000023.11:g.108732978C>T, NC_000023.10:g.107976208C>T, NG_013239.1:g.8400G>A, NM_003604.2:c.3367G>A, NM_001379150.1:c.3367G>A, XM_006724713.4:c.3367G>A, XM_006724713.3:c.3367G>A, XM_006724713.2:c.3367G>A, XM_006724713.1:c.3367G>A, XM_011531061.2:c.3367G>A, XM_011531061.1:c.3367G>A, NP_003595.1:p.Ala1123Thr, NP_001366079.1:p.Ala1123Thr, XP_006724776.1:p.Ala1123Thr, XP_011529363.1:p.Ala1123Thr

Select item 14899676033.

rs1489967603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:108734410 (GRCh38)
X:107977640 (GRCh37)
Canonical SPDI:: NC_000023.11:108734409:T:C
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.108734410T>C, NC_000023.10:g.107977640T>C, NG_013239.1:g.6968A>G, NM_003604.2:c.1935A>G, NM_001379150.1:c.1935A>G, XM_006724713.4:c.1935A>G, XM_006724713.3:c.1935A>G, XM_006724713.2:c.1935A>G, XM_006724713.1:c.1935A>G, XM_011531061.2:c.1935A>G, XM_011531061.1:c.1935A>G

Select item 14870511314.

rs1487051131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:108736209 (GRCh38)
X:107979439 (GRCh37)
Canonical SPDI:: NC_000023.11:108736208:T:C
Gene:: IRS4 (Varview), IRS4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108736209T>C, NC_000023.10:g.107979439T>C, NG_013239.1:g.5169A>G, NM_003604.2:c.136A>G, NM_001379150.1:c.136A>G, XM_006724713.4:c.136A>G, XM_006724713.3:c.136A>G, XM_006724713.2:c.136A>G, XM_006724713.1:c.136A>G, XM_011531061.2:c.136A>G, XM_011531061.1:c.136A>G, NP_003595.1:p.Thr46Ala, NP_001366079.1:p.Thr46Ala, XP_006724776.1:p.Thr46Ala, XP_011529363.1:p.Thr46Ala

Select item 14852852925.

rs1485285292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:108734327 (GRCh38)
X:107977557 (GRCh37)
Canonical SPDI:: NC_000023.11:108734326:A:C,NC_000023.11:108734326:A:G
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.108734327A>C, NC_000023.11:g.108734327A>G, NC_000023.10:g.107977557A>C, NC_000023.10:g.107977557A>G, NG_013239.1:g.7051T>G, NG_013239.1:g.7051T>C, NM_003604.2:c.2018T>G, NM_003604.2:c.2018T>C, NM_001379150.1:c.2018T>G, NM_001379150.1:c.2018T>C, XM_006724713.4:c.2018T>G, XM_006724713.4:c.2018T>C, XM_006724713.3:c.2018T>G, XM_006724713.3:c.2018T>C, XM_006724713.2:c.2018T>G, XM_006724713.2:c.2018T>C, XM_006724713.1:c.2018T>G, XM_006724713.1:c.2018T>C, XM_011531061.2:c.2018T>G, XM_011531061.2:c.2018T>C, XM_011531061.1:c.2018T>G, XM_011531061.1:c.2018T>C, NP_003595.1:p.Val673Gly, NP_003595.1:p.Val673Ala, NP_001366079.1:p.Val673Gly, NP_001366079.1:p.Val673Ala, XP_006724776.1:p.Val673Gly, XP_006724776.1:p.Val673Ala, XP_011529363.1:p.Val673Gly, XP_011529363.1:p.Val673Ala

Select item 14851490116.

rs1485149011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:108736049 (GRCh38)
X:107979279 (GRCh37)
Canonical SPDI:: NC_000023.11:108736048:T:C
Gene:: IRS4 (Varview), IRS4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108736049T>C, NC_000023.10:g.107979279T>C, NG_013239.1:g.5329A>G, NM_003604.2:c.296A>G, NM_001379150.1:c.296A>G, XM_006724713.4:c.296A>G, XM_006724713.3:c.296A>G, XM_006724713.2:c.296A>G, XM_006724713.1:c.296A>G, XM_011531061.2:c.296A>G, XM_011531061.1:c.296A>G, NP_003595.1:p.Lys99Arg, NP_001366079.1:p.Lys99Arg, XP_006724776.1:p.Lys99Arg, XP_011529363.1:p.Lys99Arg

Select item 14847826567.

rs1484782656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:108733057 (GRCh38)
X:107976287 (GRCh37)
Canonical SPDI:: NC_000023.11:108733056:G:T
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108733057G>T, NC_000023.10:g.107976287G>T, NG_013239.1:g.8321C>A, NM_003604.2:c.3288C>A, NM_001379150.1:c.3288C>A, XM_006724713.4:c.3288C>A, XM_006724713.3:c.3288C>A, XM_006724713.2:c.3288C>A, XM_006724713.1:c.3288C>A, XM_011531061.2:c.3288C>A, XM_011531061.1:c.3288C>A

Select item 14845922368.

rs1484592236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:108732620 (GRCh38)
X:107975850 (GRCh37)
Canonical SPDI:: NC_000023.11:108732619:T:A
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.108732620T>A, NC_000023.10:g.107975850T>A, NG_013239.1:g.8758A>T, NM_003604.2:c.3725A>T, NM_001379150.1:c.3725A>T, XM_006724713.4:c.3725A>T, XM_006724713.3:c.3725A>T, XM_006724713.2:c.3725A>T, XM_006724713.1:c.3725A>T, XM_011531061.2:c.3725A>T, XM_011531061.1:c.3725A>T, NP_003595.1:p.Asp1242Val, NP_001366079.1:p.Asp1242Val, XP_006724776.1:p.Asp1242Val, XP_011529363.1:p.Asp1242Val

Select item 14832541679.

rs1483254167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:108733851 (GRCh38)
X:107977081 (GRCh37)
Canonical SPDI:: NC_000023.11:108733850:A:G
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108733851A>G, NC_000023.10:g.107977081A>G, NG_013239.1:g.7527T>C, NM_003604.2:c.2494T>C, NM_001379150.1:c.2494T>C, XM_006724713.4:c.2494T>C, XM_006724713.3:c.2494T>C, XM_006724713.2:c.2494T>C, XM_006724713.1:c.2494T>C, XM_011531061.2:c.2494T>C, XM_011531061.1:c.2494T>C

Select item 148324008210.

rs1483240082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:108735238 (GRCh38)
X:107978468 (GRCh37)
Canonical SPDI:: NC_000023.11:108735237:T:A
Gene:: IRS4 (Varview), IRS4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.108735238T>A, NC_000023.10:g.107978468T>A, NG_013239.1:g.6140A>T, NM_003604.2:c.1107A>T, NM_001379150.1:c.1107A>T, XM_006724713.4:c.1107A>T, XM_006724713.3:c.1107A>T, XM_006724713.2:c.1107A>T, XM_006724713.1:c.1107A>T, XM_011531061.2:c.1107A>T, XM_011531061.1:c.1107A>T

Select item 148295807711.

rs1482958077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:108735344 (GRCh38)
X:107978574 (GRCh37)
Canonical SPDI:: NC_000023.11:108735343:T:C
Gene:: IRS4 (Varview), IRS4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108735344T>C, NC_000023.10:g.107978574T>C, NG_013239.1:g.6034A>G, NM_003604.2:c.1001A>G, NM_001379150.1:c.1001A>G, XM_006724713.4:c.1001A>G, XM_006724713.3:c.1001A>G, XM_006724713.2:c.1001A>G, XM_006724713.1:c.1001A>G, XM_011531061.2:c.1001A>G, XM_011531061.1:c.1001A>G, NP_003595.1:p.Asp334Gly, NP_001366079.1:p.Asp334Gly, XP_006724776.1:p.Asp334Gly, XP_011529363.1:p.Asp334Gly

Select item 148295350712.

rs1482953507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:108733718 (GRCh38)
X:107976948 (GRCh37)
Canonical SPDI:: NC_000023.11:108733717:G:A
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108733718G>A, NC_000023.10:g.107976948G>A, NG_013239.1:g.7660C>T, NM_003604.2:c.2627C>T, NM_001379150.1:c.2627C>T, XM_006724713.4:c.2627C>T, XM_006724713.3:c.2627C>T, XM_006724713.2:c.2627C>T, XM_006724713.1:c.2627C>T, XM_011531061.2:c.2627C>T, XM_011531061.1:c.2627C>T, NP_003595.1:p.Pro876Leu, NP_001366079.1:p.Pro876Leu, XP_006724776.1:p.Pro876Leu, XP_011529363.1:p.Pro876Leu

Select item 148202133413.

rs1482021334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:108735592 (GRCh38)
X:107978822 (GRCh37)
Canonical SPDI:: NC_000023.11:108735591:G:A,NC_000023.11:108735591:G:T
Gene:: IRS4 (Varview), IRS4-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
T=0.000045/1 (TOMMO)
G=0.25/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.108735592G>A, NC_000023.11:g.108735592G>T, NC_000023.10:g.107978822G>A, NC_000023.10:g.107978822G>T, NG_013239.1:g.5786C>T, NG_013239.1:g.5786C>A, NM_003604.2:c.753C>T, NM_003604.2:c.753C>A, NM_001379150.1:c.753C>T, NM_001379150.1:c.753C>A, XM_006724713.4:c.753C>T, XM_006724713.4:c.753C>A, XM_006724713.3:c.753C>T, XM_006724713.3:c.753C>A, XM_006724713.2:c.753C>T, XM_006724713.2:c.753C>A, XM_006724713.1:c.753C>T, XM_006724713.1:c.753C>A, XM_011531061.2:c.753C>T, XM_011531061.2:c.753C>A, XM_011531061.1:c.753C>T, XM_011531061.1:c.753C>A, NP_003595.1:p.Ser251Arg, NP_001366079.1:p.Ser251Arg, XP_006724776.1:p.Ser251Arg, XP_011529363.1:p.Ser251Arg

Select item 148145745014.

rs1481457450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:108732688 (GRCh38)
X:107975918 (GRCh37)
Canonical SPDI:: NC_000023.11:108732687:A:C
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000023.11:g.108732688A>C, NC_000023.10:g.107975918A>C, NG_013239.1:g.8690T>G, NM_003604.2:c.3657T>G, NM_001379150.1:c.3657T>G, XM_006724713.4:c.3657T>G, XM_006724713.3:c.3657T>G, XM_006724713.2:c.3657T>G, XM_006724713.1:c.3657T>G, XM_011531061.2:c.3657T>G, XM_011531061.1:c.3657T>G, NP_003595.1:p.Ser1219Arg, NP_001366079.1:p.Ser1219Arg, XP_006724776.1:p.Ser1219Arg, XP_011529363.1:p.Ser1219Arg

Select item 147996705915.

rs1479967059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:108735549 (GRCh38)
X:107978779 (GRCh37)
Canonical SPDI:: NC_000023.11:108735548:C:A,NC_000023.11:108735548:C:T
Gene:: IRS4 (Varview), IRS4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.108735549C>A, NC_000023.11:g.108735549C>T, NC_000023.10:g.107978779C>A, NC_000023.10:g.107978779C>T, NG_013239.1:g.5829G>T, NG_013239.1:g.5829G>A, NM_003604.2:c.796G>T, NM_003604.2:c.796G>A, NM_001379150.1:c.796G>T, NM_001379150.1:c.796G>A, XM_006724713.4:c.796G>T, XM_006724713.4:c.796G>A, XM_006724713.3:c.796G>T, XM_006724713.3:c.796G>A, XM_006724713.2:c.796G>T, XM_006724713.2:c.796G>A, XM_006724713.1:c.796G>T, XM_006724713.1:c.796G>A, XM_011531061.2:c.796G>T, XM_011531061.2:c.796G>A, XM_011531061.1:c.796G>T, XM_011531061.1:c.796G>A, NP_003595.1:p.Val266Leu, NP_003595.1:p.Val266Met, NP_001366079.1:p.Val266Leu, NP_001366079.1:p.Val266Met, XP_006724776.1:p.Val266Leu, XP_006724776.1:p.Val266Met, XP_011529363.1:p.Val266Leu, XP_011529363.1:p.Val266Met

Select item 147971004816.

rs1479710048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:108733836 (GRCh38)
X:107977066 (GRCh37)
Canonical SPDI:: NC_000023.11:108733835:G:A
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108733836G>A, NC_000023.10:g.107977066G>A, NG_013239.1:g.7542C>T, NM_003604.2:c.2509C>T, NM_001379150.1:c.2509C>T, XM_006724713.4:c.2509C>T, XM_006724713.3:c.2509C>T, XM_006724713.2:c.2509C>T, XM_006724713.1:c.2509C>T, XM_011531061.2:c.2509C>T, XM_011531061.1:c.2509C>T

Select item 147967887717.

rs1479678877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:108732901 (GRCh38)
X:107976131 (GRCh37)
Canonical SPDI:: NC_000023.11:108732900:T:A,NC_000023.11:108732900:T:C
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.108732901T>A, NC_000023.11:g.108732901T>C, NC_000023.10:g.107976131T>A, NC_000023.10:g.107976131T>C, NG_013239.1:g.8477A>T, NG_013239.1:g.8477A>G, NM_003604.2:c.3444A>T, NM_003604.2:c.3444A>G, NM_001379150.1:c.3444A>T, NM_001379150.1:c.3444A>G, XM_006724713.4:c.3444A>T, XM_006724713.4:c.3444A>G, XM_006724713.3:c.3444A>T, XM_006724713.3:c.3444A>G, XM_006724713.2:c.3444A>T, XM_006724713.2:c.3444A>G, XM_006724713.1:c.3444A>T, XM_006724713.1:c.3444A>G, XM_011531061.2:c.3444A>T, XM_011531061.2:c.3444A>G, XM_011531061.1:c.3444A>T, XM_011531061.1:c.3444A>G

Select item 147967795118.

rs1479677951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:108733318 (GRCh38)
X:107976548 (GRCh37)
Canonical SPDI:: NC_000023.11:108733317:A:G
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108733318A>G, NC_000023.10:g.107976548A>G, NG_013239.1:g.8060T>C, NM_003604.2:c.3027T>C, NM_001379150.1:c.3027T>C, XM_006724713.4:c.3027T>C, XM_006724713.3:c.3027T>C, XM_006724713.2:c.3027T>C, XM_006724713.1:c.3027T>C, XM_011531061.2:c.3027T>C, XM_011531061.1:c.3027T>C

Select item 147908922119.

rs1479089221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:108733420 (GRCh38)
X:107976650 (GRCh37)
Canonical SPDI:: NC_000023.11:108733419:G:C
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108733420G>C, NC_000023.10:g.107976650G>C, NG_013239.1:g.7958C>G, NM_003604.2:c.2925C>G, NM_001379150.1:c.2925C>G, XM_006724713.4:c.2925C>G, XM_006724713.3:c.2925C>G, XM_006724713.2:c.2925C>G, XM_006724713.1:c.2925C>G, XM_011531061.2:c.2925C>G, XM_011531061.1:c.2925C>G

Select item 147608870820.

rs1476088708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:108734085 (GRCh38)
X:107977315 (GRCh37)
Canonical SPDI:: NC_000023.11:108734084:G:A
Gene:: IRS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.108734085G>A, NC_000023.10:g.107977315G>A, NG_013239.1:g.7293C>T, NM_003604.2:c.2260C>T, NM_001379150.1:c.2260C>T, XM_006724713.4:c.2260C>T, XM_006724713.3:c.2260C>T, XM_006724713.2:c.2260C>T, XM_006724713.1:c.2260C>T, XM_011531061.2:c.2260C>T, XM_011531061.1:c.2260C>T, NP_003595.1:p.Pro754Ser, NP_001366079.1:p.Pro754Ser, XP_006724776.1:p.Pro754Ser, XP_011529363.1:p.Pro754Ser

dbSNP

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