SNP Links for Gene (Select 55968) - SNP

Links from Gene

Items: 1 to 20 of 1000

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Select item 14910011511.

rs1491001151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1466605 (GRCh38)
20:1447250 (GRCh37)
Canonical SPDI:: NC_000020.11:1466604:G:A
Gene:: NSFL1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.1466605G>A, NC_000020.10:g.1447250G>A

Select item 14909284312.

rs1490928431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1465837 (GRCh38)
20:1446482 (GRCh37)
Canonical SPDI:: NC_000020.11:1465836:G:A
Gene:: NSFL1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.1465837G>A, NC_000020.10:g.1446482G>A

Select item 14909231063.

rs1490923106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1462071 (GRCh38)
20:1442716 (GRCh37)
Canonical SPDI:: NC_000020.11:1462070:G:A
Gene:: NSFL1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.1462071G>A, NC_000020.10:g.1442716G>A, XM_011529302.3:c.-1114C>T, XM_011529302.2:c.-1114C>T, XM_017027956.2:c.-1114C>T, XM_017027956.1:c.-1114C>T

Select item 14907413814.

rs1490741381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:1450068 (GRCh38)
20:1430713 (GRCh37)
Canonical SPDI:: NC_000020.11:1450067:T:C
Gene:: NSFL1C (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000020.11:g.1450068T>C, NC_000020.10:g.1430713T>C

Select item 14905914335.

rs1490591433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:1450780 (GRCh38)
20:1431425 (GRCh37)
Canonical SPDI:: NC_000020.11:1450779:A:G
Gene:: NSFL1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.1450780A>G, NC_000020.10:g.1431425A>G

Select item 14904809276.

rs1490480927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:1442508 (GRCh38)
20:1423153 (GRCh37)
Canonical SPDI:: NC_000020.11:1442507:C:A,NC_000020.11:1442507:C:G
Gene:: NSFL1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.1442508C>A, NC_000020.11:g.1442508C>G, NC_000020.10:g.1423153C>A, NC_000020.10:g.1423153C>G, NM_016143.5:c.*1241G>T, NM_016143.5:c.*1241G>C, NM_016143.4:c.*1241G>T, NM_016143.4:c.*1241G>C, NM_018839.5:c.*1241G>T, NM_018839.5:c.*1241G>C, NM_018839.4:c.*1241G>T, NM_018839.4:c.*1241G>C, XM_006723593.4:c.*1241G>T, XM_006723593.4:c.*1241G>C, XM_006723593.3:c.*1241G>T, XM_006723593.3:c.*1241G>C, XM_006723593.2:c.*1241G>T, XM_006723593.2:c.*1241G>C, XM_006723593.1:c.*1241G>T, XM_006723593.1:c.*1241G>C, XM_011529302.3:c.*1241G>T, XM_011529302.3:c.*1241G>C, XM_011529302.2:c.*1241G>T, XM_011529302.2:c.*1241G>C, XM_011529302.1:c.*1241G>T, XM_011529302.1:c.*1241G>C, XM_017027958.3:c.*1241G>T, XM_017027958.3:c.*1241G>C, XM_017027958.2:c.*1241G>T, XM_017027958.2:c.*1241G>C, XM_017027958.1:c.*1241G>T, XM_017027958.1:c.*1241G>C, XM_011529300.3:c.*1241G>T, XM_011529300.3:c.*1241G>C, XM_011529300.2:c.*1241G>T, XM_011529300.2:c.*1241G>C, XM_011529300.1:c.*1241G>T, XM_011529300.1:c.*1241G>C, XM_011529301.3:c.*1241G>T, XM_011529301.3:c.*1241G>C, XM_011529301.2:c.*1241G>T, XM_011529301.2:c.*1241G>C, XM_011529301.1:c.*1241G>T, XM_011529301.1:c.*1241G>C, XM_017027956.2:c.*1241G>T, XM_017027956.2:c.*1241G>C, XM_017027956.1:c.*1241G>T, XM_017027956.1:c.*1241G>C, NM_001206736.2:c.*1241G>T, NM_001206736.2:c.*1241G>C, NM_001206736.1:c.*1241G>T, NM_001206736.1:c.*1241G>C, NR_038164.2:n.2186G>T, NR_038164.2:n.2186G>C, NR_038164.1:n.3029G>T, NR_038164.1:n.3029G>C, NM_182483.1:c.*1241G>T, NM_182483.1:c.*1241G>C, XM_047440302.1:c.*1241G>T, XM_047440302.1:c.*1241G>C, XM_047440303.1:c.*1241G>T, XM_047440303.1:c.*1241G>C, XM_047440305.1:c.*1241G>T, XM_047440305.1:c.*1241G>C, XM_047440307.1:c.*1241G>T, XM_047440307.1:c.*1241G>C, XM_047440306.1:c.*1241G>T, XM_047440306.1:c.*1241G>C

Select item 14904563477.

rs1490456347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:1465541 (GRCh38)
20:1446186 (GRCh37)
Canonical SPDI:: NC_000020.11:1465540:G:C
Gene:: NSFL1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.1465541G>C, NC_000020.10:g.1446186G>C

Select item 14903810788.

rs1490381078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:1459087 (GRCh38)
20:1439732 (GRCh37)
Canonical SPDI:: NC_000020.11:1459086:T:A
Gene:: NSFL1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000020.11:g.1459087T>A, NC_000020.10:g.1439732T>A

Select item 14903638579.

rs1490363857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:1443421 (GRCh38)
20:1424066 (GRCh37)
Canonical SPDI:: NC_000020.11:1443420:A:C
Gene:: NSFL1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.1443421A>C, NC_000020.10:g.1424066A>C, NM_016143.5:c.*328T>G, NM_016143.4:c.*328T>G, NM_018839.5:c.*328T>G, NM_018839.4:c.*328T>G, XM_006723593.4:c.*328T>G, XM_006723593.3:c.*328T>G, XM_006723593.2:c.*328T>G, XM_006723593.1:c.*328T>G, XM_011529302.3:c.*328T>G, XM_011529302.2:c.*328T>G, XM_011529302.1:c.*328T>G, XM_017027958.3:c.*328T>G, XM_017027958.2:c.*328T>G, XM_017027958.1:c.*328T>G, XM_011529300.3:c.*328T>G, XM_011529300.2:c.*328T>G, XM_011529300.1:c.*328T>G, XM_011529301.3:c.*328T>G, XM_011529301.2:c.*328T>G, XM_011529301.1:c.*328T>G, XM_017027956.2:c.*328T>G, XM_017027956.1:c.*328T>G, NM_001206736.2:c.*328T>G, NM_001206736.1:c.*328T>G, NR_038164.2:n.1273T>G, NR_038164.1:n.2116T>G, NM_182483.1:c.*328T>G, XM_047440302.1:c.*328T>G, XM_047440303.1:c.*328T>G, XM_047440305.1:c.*328T>G, XM_047440307.1:c.*328T>G, XM_047440306.1:c.*328T>G

Select item 149021886710.

rs1490218867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:1459625 (GRCh38)
20:1440270 (GRCh37)
Canonical SPDI:: NC_000020.11:1459624:T:C
Gene:: NSFL1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.1459625T>C, NC_000020.10:g.1440270T>C

Select item 149019797711.

rs1490197977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:1446614 (GRCh38)
20:1427259 (GRCh37)
Canonical SPDI:: NC_000020.11:1446613:A:G
Gene:: NSFL1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.1446614A>G, NC_000020.10:g.1427259A>G

Select item 148996461212.

rs1489964612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1466586 (GRCh38)
20:1447231 (GRCh37)
Canonical SPDI:: NC_000020.11:1466585:G:A
Gene:: NSFL1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000071/1 (TOMMO)
A=0.000563/1 (Korea1K)
HGVS:: NC_000020.11:g.1466586G>A, NC_000020.10:g.1447231G>A

Select item 148973527813.

rs1489735278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:1443880 (GRCh38)
20:1424525 (GRCh37)
Canonical SPDI:: NC_000020.11:1443879:C:A,NC_000020.11:1443879:C:G
Gene:: NSFL1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
G=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.1443880C>A, NC_000020.11:g.1443880C>G, NC_000020.10:g.1424525C>A, NC_000020.10:g.1424525C>G, NM_016143.5:c.982G>T, NM_016143.5:c.982G>C, NM_016143.4:c.982G>T, NM_016143.4:c.982G>C, NM_018839.5:c.889G>T, NM_018839.5:c.889G>C, NM_018839.4:c.889G>T, NM_018839.4:c.889G>C, XM_006723593.4:c.655G>T, XM_006723593.4:c.655G>C, XM_006723593.3:c.655G>T, XM_006723593.3:c.655G>C, XM_006723593.2:c.655G>T, XM_006723593.2:c.655G>C, XM_006723593.1:c.655G>T, XM_006723593.1:c.655G>C, XM_011529302.3:c.838G>T, XM_011529302.3:c.838G>C, XM_011529302.2:c.838G>T, XM_011529302.2:c.838G>C, XM_011529302.1:c.838G>T, XM_011529302.1:c.838G>C, XM_017027958.3:c.727G>T, XM_017027958.3:c.727G>C, XM_017027958.2:c.727G>T, XM_017027958.2:c.727G>C, XM_017027958.1:c.727G>T, XM_017027958.1:c.727G>C, XM_011529300.3:c.997G>T, XM_011529300.3:c.997G>C, XM_011529300.2:c.997G>T, XM_011529300.2:c.997G>C, XM_011529300.1:c.997G>T, XM_011529300.1:c.997G>C, XM_011529301.3:c.991G>T, XM_011529301.3:c.991G>C, XM_011529301.2:c.991G>T, XM_011529301.2:c.991G>C, XM_011529301.1:c.991G>T, XM_011529301.1:c.991G>C, XM_017027956.2:c.832G>T, XM_017027956.2:c.832G>C, XM_017027956.1:c.832G>T, XM_017027956.1:c.832G>C, NM_001206736.2:c.988G>T, NM_001206736.2:c.988G>C, NM_001206736.1:c.988G>T, NM_001206736.1:c.988G>C, NR_038164.2:n.814G>T, NR_038164.2:n.814G>C, NR_038164.1:n.1657G>T, NR_038164.1:n.1657G>C, NM_182483.1:c.649G>T, NM_182483.1:c.649G>C, XM_047440302.1:c.835G>T, XM_047440302.1:c.835G>C, XM_047440303.1:c.829G>T, XM_047440303.1:c.829G>C, XM_047440305.1:c.655G>T, XM_047440305.1:c.655G>C, XM_047440307.1:c.649G>T, XM_047440307.1:c.649G>C, XM_047440306.1:c.649G>T, XM_047440306.1:c.649G>C, NP_057227.2:p.Ala328Ser, NP_057227.2:p.Ala328Pro, NP_061327.2:p.Ala297Ser, NP_061327.2:p.Ala297Pro, XP_006723656.1:p.Ala219Ser, XP_006723656.1:p.Ala219Pro, XP_011527604.1:p.Ala280Ser, XP_011527604.1:p.Ala280Pro, XP_016883447.1:p.Ala243Ser, XP_016883447.1:p.Ala243Pro, XP_011527602.1:p.Ala333Ser, XP_011527602.1:p.Ala333Pro, XP_011527603.1:p.Ala331Ser, XP_011527603.1:p.Ala331Pro, XP_016883445.1:p.Ala278Ser, XP_016883445.1:p.Ala278Pro, NP_001193665.1:p.Ala330Ser, NP_001193665.1:p.Ala330Pro, XP_047296258.1:p.Ala279Ser, XP_047296258.1:p.Ala279Pro, XP_047296259.1:p.Ala277Ser, XP_047296259.1:p.Ala277Pro, XP_047296261.1:p.Ala219Ser, XP_047296261.1:p.Ala219Pro, XP_047296263.1:p.Ala217Ser, XP_047296263.1:p.Ala217Pro, XP_047296262.1:p.Ala217Ser, XP_047296262.1:p.Ala217Pro

Select item 148969946114.

rs1489699461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1445427 (GRCh38)
20:1426072 (GRCh37)
Canonical SPDI:: NC_000020.11:1445426:C:T
Gene:: NSFL1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.1445427C>T, NC_000020.10:g.1426072C>T

Select item 148962754115.

rs1489627541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:1447552 (GRCh38)
20:1428197 (GRCh37)
Canonical SPDI:: NC_000020.11:1447551:T:A
Gene:: NSFL1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (Korea1K)
HGVS:: NC_000020.11:g.1447552T>A, NC_000020.10:g.1428197T>A

Select item 148950955216.

rs1489509552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:1468904 (GRCh38)
20:1449549 (GRCh37)
Canonical SPDI:: NC_000020.11:1468903:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.1468904C>G, NC_000020.10:g.1449549C>G

Select item 148938849717.

rs1489388497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:1447263 (GRCh38)
20:1427908 (GRCh37)
Canonical SPDI:: NC_000020.11:1447262:A:T
Gene:: NSFL1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.1447263A>T, NC_000020.10:g.1427908A>T

Select item 148938158418.

rs1489381584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1466848 (GRCh38)
20:1447493 (GRCh37)
Canonical SPDI:: NC_000020.11:1466847:G:A
Gene:: NSFL1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1466848G>A, NC_000020.10:g.1447493G>A, NM_016143.5:c.-24C>T, NM_016143.4:c.-24C>T, NM_018839.5:c.-24C>T, NM_018839.4:c.-24C>T, XM_006723593.4:c.-164C>T, XM_006723593.3:c.-164C>T, XM_006723593.2:c.-164C>T, XM_006723593.1:c.-164C>T, XM_011529300.3:c.-24C>T, XM_011529300.2:c.-24C>T, XM_011529300.1:c.-24C>T, XM_011529301.3:c.-24C>T, XM_011529301.2:c.-24C>T, XM_011529301.1:c.-24C>T, NM_001206736.2:c.-24C>T, NM_001206736.1:c.-24C>T, NR_038164.2:n.2C>T, NR_038164.1:n.845C>T, NM_182483.1:c.-164C>T, XM_047440304.1:c.-24C>T

Select item 148931170619.

rs1489311706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1456605 (GRCh38)
20:1437250 (GRCh37)
Canonical SPDI:: NC_000020.11:1456604:C:T
Gene:: NSFL1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.1456605C>T, NC_000020.10:g.1437250C>T, XM_017027958.3:c.7G>A, XM_017027958.2:c.7G>A, XM_017027958.1:c.7G>A, XP_016883447.1:p.Ala3Thr

Select item 148910839420.

rs1489108394 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:1449897 (GRCh38)
20:1430542 (GRCh37)
Canonical SPDI:: NC_000020.11:1449896:T:C,NC_000020.11:1449896:T:G
Gene:: NSFL1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.1449897T>C, NC_000020.11:g.1449897T>G, NC_000020.10:g.1430542T>C, NC_000020.10:g.1430542T>G

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