SNP Links for Protein (Select 1021589288) - SNP

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:51941540 (GRCh38)
15:52233737 (GRCh37)
Canonical SPDI:: NC_000015.10:51941539:T:G
Gene:: LEO1 (Varview), LOC112268148 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000015.10:g.51941540T>G, NC_000015.9:g.52233737T>G, NM_001323903.2:c.1955A>C, NM_001323903.1:c.1955A>C, NP_001310832.1:p.Glu652Ala

Select item 14743303409.

rs1474330340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:51949830 (GRCh38)
15:52242027 (GRCh37)
Canonical SPDI:: NC_000015.10:51949829:G:C
Gene:: LEO1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.51949830G>C, NC_000015.9:g.52242027G>C, NM_138792.4:c.1776C>G, NM_138792.3:c.1776C>G, NM_138792.2:c.1776C>G, NM_001323903.2:c.1776C>G, NM_001323903.1:c.1776C>G, XM_017021911.2:c.1776C>G, XM_017021911.1:c.1776C>G, NM_001323904.2:c.1776C>G, NM_001323904.1:c.1776C>G, NM_001286430.2:c.1596C>G, NM_001286430.1:c.1596C>G, NP_620147.1:p.Asn592Lys, NP_001310832.1:p.Asn592Lys, XP_016877400.1:p.Asn592Lys, NP_001310833.1:p.Asn592Lys, NP_001273359.1:p.Asn532Lys

Select item 147344427310.

rs1473444273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:51962396 (GRCh38)
15:52254593 (GRCh37)
Canonical SPDI:: NC_000015.10:51962395:C:T
Gene:: LEO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.51962396C>T, NC_000015.9:g.52254593C>T, NM_138792.4:c.912G>A, NM_138792.3:c.912G>A, NM_138792.2:c.912G>A, NM_001323903.2:c.912G>A, NM_001323903.1:c.912G>A, XM_017021911.2:c.912G>A, XM_017021911.1:c.912G>A, NM_001323904.2:c.912G>A, NM_001323904.1:c.912G>A, NM_001286430.2:c.912G>A, NM_001286430.1:c.912G>A

Select item 147242331911.

rs1472423319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:51953140 (GRCh38)
15:52245337 (GRCh37)
Canonical SPDI:: NC_000015.10:51953139:T:C
Gene:: LEO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00009/4 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.51953140T>C, NC_000015.9:g.52245337T>C, NM_138792.4:c.1464A>G, NM_138792.3:c.1464A>G, NM_138792.2:c.1464A>G, NM_001323903.2:c.1464A>G, NM_001323903.1:c.1464A>G, XM_017021911.2:c.1464A>G, XM_017021911.1:c.1464A>G, NM_001323904.2:c.1464A>G, NM_001323904.1:c.1464A>G, NM_001286430.2:c.1284A>G, NM_001286430.1:c.1284A>G

Select item 147149353512.

rs1471493535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:51938240 (GRCh38)
15:52230437 (GRCh37)
Canonical SPDI:: NC_000015.10:51938239:C:T
Gene:: LEO1 (Varview), LOC112268148 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.51938240C>T, NC_000015.9:g.52230437C>T, NM_138792.4:c.1917G>A, NM_138792.3:c.1917G>A, NM_138792.2:c.1917G>A, NM_001323903.2:c.2015G>A, NM_001323903.1:c.2015G>A, XM_017021911.2:c.*13G>A, XM_017021911.1:c.*13G>A, NM_001323904.2:c.1913G>A, NM_001323904.1:c.1913G>A, NM_001286430.2:c.1737G>A, NM_001286430.1:c.1737G>A, NP_001310832.1:p.Arg672Lys, NP_001310833.1:p.Arg638Lys

Select item 147063551013.

rs1470635510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:51966169 (GRCh38)
15:52258366 (GRCh37)
Canonical SPDI:: NC_000015.10:51966168:C:A,NC_000015.10:51966168:C:T
Gene:: LEO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.51966169C>A, NC_000015.10:g.51966169C>T, NC_000015.9:g.52258366C>A, NC_000015.9:g.52258366C>T, NM_138792.4:c.394G>T, NM_138792.4:c.394G>A, NM_138792.3:c.394G>T, NM_138792.3:c.394G>A, NM_138792.2:c.394G>T, NM_138792.2:c.394G>A, NM_001323903.2:c.394G>T, NM_001323903.2:c.394G>A, NM_001323903.1:c.394G>T, NM_001323903.1:c.394G>A, XM_017021911.2:c.394G>T, XM_017021911.2:c.394G>A, XM_017021911.1:c.394G>T, XM_017021911.1:c.394G>A, NM_001323904.2:c.394G>T, NM_001323904.2:c.394G>A, NM_001323904.1:c.394G>T, NM_001323904.1:c.394G>A, NM_001286430.2:c.394G>T, NM_001286430.2:c.394G>A, NM_001286430.1:c.394G>T, NM_001286430.1:c.394G>A, NP_620147.1:p.Ala132Ser, NP_620147.1:p.Ala132Thr, NP_001310832.1:p.Ala132Ser, NP_001310832.1:p.Ala132Thr, XP_016877400.1:p.Ala132Ser, XP_016877400.1:p.Ala132Thr, NP_001310833.1:p.Ala132Ser, NP_001310833.1:p.Ala132Thr, NP_001273359.1:p.Ala132Ser, NP_001273359.1:p.Ala132Thr

Select item 146870898814.

rs1468708988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:51947307 (GRCh38)
15:52239504 (GRCh37)
Canonical SPDI:: NC_000015.10:51947306:T:C
Gene:: LEO1 (Varview), LOC112268148 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.51947307T>C, NC_000015.9:g.52239504T>C, NM_138792.4:c.1881A>G, NM_138792.3:c.1881A>G, NM_138792.2:c.1881A>G, NM_001323903.2:c.1881A>G, NM_001323903.1:c.1881A>G, XM_017021911.2:c.1881A>G, XM_017021911.1:c.1881A>G, NM_001323904.2:c.1881A>G, NM_001323904.1:c.1881A>G, NM_001286430.2:c.1701A>G, NM_001286430.1:c.1701A>G

Select item 146741213815.

rs1467412138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:51941561 (GRCh38)
15:52233758 (GRCh37)
Canonical SPDI:: NC_000015.10:51941560:G:A
Gene:: LEO1 (Varview), LOC112268148 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000015.10:g.51941561G>A, NC_000015.9:g.52233758G>A, NM_001323903.2:c.1934C>T, NM_001323903.1:c.1934C>T, NP_001310832.1:p.Thr645Ile

Select item 146092849516.

rs1460928495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:51954541 (GRCh38)
15:52246738 (GRCh37)
Canonical SPDI:: NC_000015.10:51954540:T:C
Gene:: LEO1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.51954541T>C, NC_000015.9:g.52246738T>C, NM_138792.4:c.1280A>G, NM_138792.3:c.1280A>G, NM_138792.2:c.1280A>G, NM_001323903.2:c.1280A>G, NM_001323903.1:c.1280A>G, XM_017021911.2:c.1280A>G, XM_017021911.1:c.1280A>G, NM_001323904.2:c.1280A>G, NM_001323904.1:c.1280A>G, NP_620147.1:p.Asp427Gly, NP_001310832.1:p.Asp427Gly, XP_016877400.1:p.Asp427Gly, NP_001310833.1:p.Asp427Gly

Select item 146073666017.

rs1460736660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:51962487 (GRCh38)
15:52254684 (GRCh37)
Canonical SPDI:: NC_000015.10:51962486:G:A
Gene:: LEO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.51962487G>A, NC_000015.9:g.52254684G>A, NM_138792.4:c.821C>T, NM_138792.3:c.821C>T, NM_138792.2:c.821C>T, NM_001323903.2:c.821C>T, NM_001323903.1:c.821C>T, XM_017021911.2:c.821C>T, XM_017021911.1:c.821C>T, NM_001323904.2:c.821C>T, NM_001323904.1:c.821C>T, NM_001286430.2:c.821C>T, NM_001286430.1:c.821C>T, NP_620147.1:p.Ala274Val, NP_001310832.1:p.Ala274Val, XP_016877400.1:p.Ala274Val, NP_001310833.1:p.Ala274Val, NP_001273359.1:p.Ala274Val

Select item 145998528018.

rs1459985280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:51966245 (GRCh38)
15:52258442 (GRCh37)
Canonical SPDI:: NC_000015.10:51966244:C:T
Gene:: LEO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.51966245C>T, NC_000015.9:g.52258442C>T, NM_138792.4:c.318G>A, NM_138792.3:c.318G>A, NM_138792.2:c.318G>A, NM_001323903.2:c.318G>A, NM_001323903.1:c.318G>A, XM_017021911.2:c.318G>A, XM_017021911.1:c.318G>A, NM_001323904.2:c.318G>A, NM_001323904.1:c.318G>A, NM_001286430.2:c.318G>A, NM_001286430.1:c.318G>A

Select item 145996856519.

rs1459968565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:51966070 (GRCh38)
15:52258267 (GRCh37)
Canonical SPDI:: NC_000015.10:51966069:C:T
Gene:: LEO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.51966070C>T, NC_000015.9:g.52258267C>T, NM_138792.4:c.493G>A, NM_138792.3:c.493G>A, NM_138792.2:c.493G>A, NM_001323903.2:c.493G>A, NM_001323903.1:c.493G>A, XM_017021911.2:c.493G>A, XM_017021911.1:c.493G>A, NM_001323904.2:c.493G>A, NM_001323904.1:c.493G>A, NM_001286430.2:c.493G>A, NM_001286430.1:c.493G>A, NP_620147.1:p.Glu165Lys, NP_001310832.1:p.Glu165Lys, XP_016877400.1:p.Glu165Lys, NP_001310833.1:p.Glu165Lys, NP_001273359.1:p.Glu165Lys

Select item 145937721220.

rs1459377212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:51965793 (GRCh38)
15:52257990 (GRCh37)
Canonical SPDI:: NC_000015.10:51965792:T:A,NC_000015.10:51965792:T:C
Gene:: LEO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.51965793T>A, NC_000015.10:g.51965793T>C, NC_000015.9:g.52257990T>A, NC_000015.9:g.52257990T>C, NM_138792.4:c.770A>T, NM_138792.4:c.770A>G, NM_138792.3:c.770A>T, NM_138792.3:c.770A>G, NM_138792.2:c.770A>T, NM_138792.2:c.770A>G, NM_001323903.2:c.770A>T, NM_001323903.2:c.770A>G, NM_001323903.1:c.770A>T, NM_001323903.1:c.770A>G, XM_017021911.2:c.770A>T, XM_017021911.2:c.770A>G, XM_017021911.1:c.770A>T, XM_017021911.1:c.770A>G, NM_001323904.2:c.770A>T, NM_001323904.2:c.770A>G, NM_001323904.1:c.770A>T, NM_001323904.1:c.770A>G, NM_001286430.2:c.770A>T, NM_001286430.2:c.770A>G, NM_001286430.1:c.770A>T, NM_001286430.1:c.770A>G, NP_620147.1:p.Glu257Val, NP_620147.1:p.Glu257Gly, NP_001310832.1:p.Glu257Val, NP_001310832.1:p.Glu257Gly, XP_016877400.1:p.Glu257Val, XP_016877400.1:p.Glu257Gly, NP_001310833.1:p.Glu257Val, NP_001310833.1:p.Glu257Gly, NP_001273359.1:p.Glu257Val, NP_001273359.1:p.Glu257Gly

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 496

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity