SNP Links for Nucleotide (Select 13470093) - SNP

Links from Nucleotide

Items: 1 to 20 of 474

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Select item 14905809061.

rs1490580906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35726221 (GRCh38)
22:36122268 (GRCh37)
Canonical SPDI:: NC_000022.11:35726220:G:A
Gene:: APOL5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.35726221G>A, NC_000022.10:g.36122268G>A, NT_187630.1:g.40988G>A, NM_030642.1:c.153G>A

Select item 14890970642.

rs1489097064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:35727068 (GRCh38)
22:36123115 (GRCh37)
Canonical SPDI:: NC_000022.11:35727067:A:G
Gene:: APOL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.35727068A>G, NC_000022.10:g.36123115A>G, NT_187630.1:g.41835A>G, XM_006724321.5:c.952A>G, XM_006724321.4:c.952A>G, XM_006724321.3:c.952A>G, XM_006724321.2:c.952A>G, XM_006724321.1:c.952A>G, XM_017028945.3:c.784A>G, XM_017028945.2:c.784A>G, XM_017028945.1:c.784A>G, NM_030642.1:c.1000A>G, XP_006724384.1:p.Lys318Glu, XP_016884434.1:p.Lys262Glu, NP_085145.1:p.Lys334Glu

Select item 14859478813.

rs1485947881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:35728894 (GRCh38)
22:36124941 (GRCh37)
Canonical SPDI:: NC_000022.11:35728893:A:G
Gene:: APOL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.35728894A>G, NC_000022.10:g.36124941A>G, NT_187630.1:g.43661A>G, XM_006724321.5:c.1250A>G, XM_006724321.4:c.1250A>G, XM_006724321.3:c.1250A>G, XM_006724321.2:c.1250A>G, XM_006724321.1:c.1250A>G, XM_017028945.3:c.1082A>G, XM_017028945.2:c.1082A>G, XM_017028945.1:c.1082A>G, NM_030642.1:c.1298A>G, XP_006724384.1:p.Gln417Arg, XP_016884434.1:p.Gln361Arg, NP_085145.1:p.Gln433Arg

Select item 14856642124.

rs1485664212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:35727007 (GRCh38)
22:36123054 (GRCh37)
Canonical SPDI:: NC_000022.11:35727006:C:G
Gene:: APOL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.35727007C>G, NC_000022.10:g.36123054C>G, NT_187630.1:g.41774C>G, XM_006724321.5:c.891C>G, XM_006724321.4:c.891C>G, XM_006724321.3:c.891C>G, XM_006724321.2:c.891C>G, XM_006724321.1:c.891C>G, XM_017028945.3:c.723C>G, XM_017028945.2:c.723C>G, XM_017028945.1:c.723C>G, NM_030642.1:c.939C>G, XP_006724384.1:p.Ser297Arg, XP_016884434.1:p.Ser241Arg, NP_085145.1:p.Ser313Arg

Select item 14852973765.

rs1485297376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35726885 (GRCh38)
22:36122932 (GRCh37)
Canonical SPDI:: NC_000022.11:35726884:G:A
Gene:: APOL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.35726885G>A, NC_000022.10:g.36122932G>A, NT_187630.1:g.41652G>A, XM_006724321.5:c.769G>A, XM_006724321.4:c.769G>A, XM_006724321.3:c.769G>A, XM_006724321.2:c.769G>A, XM_006724321.1:c.769G>A, XM_017028945.3:c.601G>A, XM_017028945.2:c.601G>A, XM_017028945.1:c.601G>A, NM_030642.1:c.817G>A, XP_006724384.1:p.Ala257Thr, XP_016884434.1:p.Ala201Thr, NP_085145.1:p.Ala273Thr

Select item 14835072606.

rs1483507260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35726549 (GRCh38)
22:36122596 (GRCh37)
Canonical SPDI:: NC_000022.11:35726548:G:A
Gene:: APOL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.35726549G>A, NC_000022.10:g.36122596G>A, NT_187630.1:g.41316G>A, XM_006724321.5:c.433G>A, XM_006724321.4:c.433G>A, XM_006724321.3:c.433G>A, XM_006724321.2:c.433G>A, XM_006724321.1:c.433G>A, XM_017028945.3:c.265G>A, XM_017028945.2:c.265G>A, XM_017028945.1:c.265G>A, NM_030642.1:c.481G>A, XP_006724384.1:p.Val145Met, XP_016884434.1:p.Val89Met, NP_085145.1:p.Val161Met

Select item 14812785707.

rs1481278570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:35720575 (GRCh38)
22:36116622 (GRCh37)
Canonical SPDI:: NC_000022.11:35720574:A:G
Gene:: APOL5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.35720575A>G, NC_000022.10:g.36116622A>G, NT_187630.1:g.35342A>G, XM_006724321.5:c.125A>G, XM_006724321.4:c.125A>G, XM_006724321.3:c.125A>G, XM_006724321.2:c.125A>G, XM_006724321.1:c.125A>G, NM_030642.1:c.63A>G, XP_006724384.1:p.Glu42Gly

Select item 14801721078.

rs1480172107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35726553 (GRCh38)
22:36122600 (GRCh37)
Canonical SPDI:: NC_000022.11:35726552:C:T
Gene:: APOL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.35726553C>T, NC_000022.10:g.36122600C>T, NT_187630.1:g.41320C>T, XM_006724321.5:c.437C>T, XM_006724321.4:c.437C>T, XM_006724321.3:c.437C>T, XM_006724321.2:c.437C>T, XM_006724321.1:c.437C>T, XM_017028945.3:c.269C>T, XM_017028945.2:c.269C>T, XM_017028945.1:c.269C>T, NM_030642.1:c.485C>T, XP_006724384.1:p.Thr146Ile, XP_016884434.1:p.Thr90Ile, NP_085145.1:p.Thr162Ile

Select item 14770974309.

rs1477097430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:35728753 (GRCh38)
22:36124800 (GRCh37)
Canonical SPDI:: NC_000022.11:35728752:T:C
Gene:: APOL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.35728753T>C, NC_000022.10:g.36124800T>C, NT_187630.1:g.43520T>C, XM_006724321.5:c.1109T>C, XM_006724321.4:c.1109T>C, XM_006724321.3:c.1109T>C, XM_006724321.2:c.1109T>C, XM_006724321.1:c.1109T>C, XM_017028945.3:c.941T>C, XM_017028945.2:c.941T>C, XM_017028945.1:c.941T>C, NM_030642.1:c.1157T>C, XP_006724384.1:p.Val370Ala, XP_016884434.1:p.Val314Ala, NP_085145.1:p.Val386Ala

Select item 146770486910.

rs1467704869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:35726222 (GRCh38)
22:36122269 (GRCh37)
Canonical SPDI:: NC_000022.11:35726221:A:T
Gene:: APOL5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.35726222A>T, NC_000022.10:g.36122269A>T, NT_187630.1:g.40989A>T, NM_030642.1:c.154A>T, NP_085145.1:p.Asn52Tyr

Select item 146708390611.

rs1467083906 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:35726571 (GRCh38)
22:36122618 (GRCh37)
Canonical SPDI:: NC_000022.11:35726570:T:C
Gene:: APOL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
C=0.000142/2 (TOMMO)
HGVS:: NC_000022.11:g.35726571T>C, NC_000022.10:g.36122618T>C, NT_187630.1:g.41338T>C, XM_006724321.5:c.455T>C, XM_006724321.4:c.455T>C, XM_006724321.3:c.455T>C, XM_006724321.2:c.455T>C, XM_006724321.1:c.455T>C, XM_017028945.3:c.287T>C, XM_017028945.2:c.287T>C, XM_017028945.1:c.287T>C, NM_030642.1:c.503T>C, XP_006724384.1:p.Met152Thr, XP_016884434.1:p.Met96Thr, NP_085145.1:p.Met168Thr

Select item 146524655512.

rs1465246555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:35720569 (GRCh38)
22:36116616 (GRCh37)
Canonical SPDI:: NC_000022.11:35720568:C:A
Gene:: APOL5 (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.35720569C>A, NC_000022.10:g.36116616C>A, NT_187630.1:g.35336C>A, XM_006724321.5:c.119C>A, XM_006724321.4:c.119C>A, XM_006724321.3:c.119C>A, XM_006724321.2:c.119C>A, XM_006724321.1:c.119C>A, NM_030642.1:c.57C>A, XP_006724384.1:p.Ala40Asp

Select item 146232445813.

rs1462324458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35728881 (GRCh38)
22:36124928 (GRCh37)
Canonical SPDI:: NC_000022.11:35728880:G:A
Gene:: APOL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.35728881G>A, NC_000022.10:g.36124928G>A, NT_187630.1:g.43648G>A, XM_006724321.5:c.1237G>A, XM_006724321.4:c.1237G>A, XM_006724321.3:c.1237G>A, XM_006724321.2:c.1237G>A, XM_006724321.1:c.1237G>A, XM_017028945.3:c.1069G>A, XM_017028945.2:c.1069G>A, XM_017028945.1:c.1069G>A, NM_030642.1:c.1285G>A, XP_006724384.1:p.Gly413Arg, XP_016884434.1:p.Gly357Arg, NP_085145.1:p.Gly429Arg

Select item 146183398914.

rs1461833989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:35728844 (GRCh38)
22:36124891 (GRCh37)
Canonical SPDI:: NC_000022.11:35728843:C:A,NC_000022.11:35728843:C:T
Gene:: APOL5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.35728844C>A, NC_000022.11:g.35728844C>T, NC_000022.10:g.36124891C>A, NC_000022.10:g.36124891C>T, NT_187630.1:g.43611C>A, NT_187630.1:g.43611C>T, XM_006724321.5:c.1200C>A, XM_006724321.5:c.1200C>T, XM_006724321.4:c.1200C>A, XM_006724321.4:c.1200C>T, XM_006724321.3:c.1200C>A, XM_006724321.3:c.1200C>T, XM_006724321.2:c.1200C>A, XM_006724321.2:c.1200C>T, XM_006724321.1:c.1200C>A, XM_006724321.1:c.1200C>T, XM_017028945.3:c.1032C>A, XM_017028945.3:c.1032C>T, XM_017028945.2:c.1032C>A, XM_017028945.2:c.1032C>T, XM_017028945.1:c.1032C>A, XM_017028945.1:c.1032C>T, NM_030642.1:c.1248C>A, NM_030642.1:c.1248C>T

Select item 146135319415.

rs1461353194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:35726815 (GRCh38)
22:36122862 (GRCh37)
Canonical SPDI:: NC_000022.11:35726814:C:A
Gene:: APOL5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.35726815C>A, NC_000022.10:g.36122862C>A, NT_187630.1:g.41582C>A, XM_006724321.5:c.699C>A, XM_006724321.4:c.699C>A, XM_006724321.3:c.699C>A, XM_006724321.2:c.699C>A, XM_006724321.1:c.699C>A, XM_017028945.3:c.531C>A, XM_017028945.2:c.531C>A, XM_017028945.1:c.531C>A, NM_030642.1:c.747C>A

Select item 146075232016.

rs1460752320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35729365 (GRCh38)
22:36125412 (GRCh37)
Canonical SPDI:: NC_000022.11:35729364:G:A
Gene:: APOL5 (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=0.00003/8 (TOPMED)
HGVS:: NC_000022.11:g.35729365G>A, NC_000022.10:g.36125412G>A, NT_187630.1:g.44132G>A, XM_006724321.5:c.*18G>A, XM_006724321.4:c.*18G>A, XM_006724321.3:c.*18G>A, XM_006724321.2:c.*18G>A, XM_006724321.1:c.*18G>A, XM_017028945.3:c.*18G>A, XM_017028945.2:c.*18G>A, XM_017028945.1:c.*18G>A, NM_030642.1:c.*18G>A

Select item 145542756617.

rs1455427566 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATG [Show Flanks]
Chromosome:: 22:35726945 (GRCh38)
22:36122993 (GRCh37)
Canonical SPDI:: NC_000022.11:35726945:TGATG:TGATGATG
Gene:: APOL5 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGATGATG=0./0 (ALFA)
TGA=0.000004/1 (TOPMED)
TGA=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.35726948_35726950dup, NC_000022.10:g.36122995_36122997dup, NT_187630.1:g.41715_41717dup, XM_006724321.5:c.832_834dup, XM_006724321.4:c.832_834dup, XM_006724321.3:c.832_834dup, XM_006724321.2:c.832_834dup, XM_006724321.1:c.832_834dup, XM_017028945.3:c.664_666dup, XM_017028945.2:c.664_666dup, XM_017028945.1:c.664_666dup, NM_030642.1:c.880_882dup, XP_006724384.1:p.Met278dup, XP_016884434.1:p.Met222dup, NP_085145.1:p.Met294dup

Select item 145522246618.

rs1455222466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35728770 (GRCh38)
22:36124817 (GRCh37)
Canonical SPDI:: NC_000022.11:35728769:C:T
Gene:: APOL5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.35728770C>T, NC_000022.10:g.36124817C>T, NT_187630.1:g.43537C>T, XM_006724321.5:c.1126C>T, XM_006724321.4:c.1126C>T, XM_006724321.3:c.1126C>T, XM_006724321.2:c.1126C>T, XM_006724321.1:c.1126C>T, XM_017028945.3:c.958C>T, XM_017028945.2:c.958C>T, XM_017028945.1:c.958C>T, NM_030642.1:c.1174C>T

Select item 145422632119.

rs1454226321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:35726305 (GRCh38)
22:36122352 (GRCh37)
Canonical SPDI:: NC_000022.11:35726304:T:C
Gene:: APOL5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.35726305T>C, NC_000022.10:g.36122352T>C, NT_187630.1:g.41072T>C, XM_006724321.5:c.189T>C, XM_006724321.4:c.189T>C, XM_006724321.3:c.189T>C, XM_006724321.2:c.189T>C, XM_006724321.1:c.189T>C, XM_017028945.3:c.21T>C, XM_017028945.2:c.21T>C, XM_017028945.1:c.21T>C, NM_030642.1:c.237T>C

Select item 145251809320.

rs1452518093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:35726288 (GRCh38)
22:36122335 (GRCh37)
Canonical SPDI:: NC_000022.11:35726287:C:A
Gene:: APOL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.35726288C>A, NC_000022.10:g.36122335C>A, NT_187630.1:g.41055C>A, XM_006724321.5:c.172C>A, XM_006724321.4:c.172C>A, XM_006724321.3:c.172C>A, XM_006724321.2:c.172C>A, XM_006724321.1:c.172C>A, XM_017028945.3:c.4C>A, XM_017028945.2:c.4C>A, XM_017028945.1:c.4C>A, NM_030642.1:c.220C>A, XP_006724384.1:p.Leu58Met, XP_016884434.1:p.Leu2Met, NP_085145.1:p.Leu74Met

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