SNP Links for Gene (Select 353135) - SNP

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Select item 14912610171.

rs1491261017 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:152785506 (GRCh38)
1:152757982 (GRCh37)
Canonical SPDI:: NC_000001.11:152785505:AT:
Gene:: LCE1E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152785506_152785507del, NC_000001.10:g.152757982_152757983del

Select item 14895657792.

rs1489565779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152788007 (GRCh38)
1:152760483 (GRCh37)
Canonical SPDI:: NC_000001.11:152788006:G:A
Gene:: LCE1E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152788007G>A, NC_000001.10:g.152760483G>A, NM_178353.2:c.*351G>A, NM_178353.1:c.*351G>A

Select item 14875054263.

rs1487505426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152786727 (GRCh38)
1:152759203 (GRCh37)
Canonical SPDI:: NC_000001.11:152786726:C:T
Gene:: LCE1E (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_000001.11:g.152786727C>T, NC_000001.10:g.152759203C>T

Select item 14874243834.

rs1487424383 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:152785596 (GRCh38)
1:152758072 (GRCh37)
Canonical SPDI:: NC_000001.11:152785595:T:G
Gene:: LCE1E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152785596T>G, NC_000001.10:g.152758072T>G

Select item 14868447655.

rs1486844765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:152785715 (GRCh38)
1:152758191 (GRCh37)
Canonical SPDI:: NC_000001.11:152785714:G:A,NC_000001.11:152785714:G:T
Gene:: LCE1E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.152785715G>A, NC_000001.11:g.152785715G>T, NC_000001.10:g.152758191G>A, NC_000001.10:g.152758191G>T

Select item 14868328366.

rs1486832836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:152786275 (GRCh38)
1:152758751 (GRCh37)
Canonical SPDI:: NC_000001.11:152786274:G:A,NC_000001.11:152786274:G:T
Gene:: LCE1E (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.152786275G>A, NC_000001.11:g.152786275G>T, NC_000001.10:g.152758751G>A, NC_000001.10:g.152758751G>T, NM_178353.2:c.-55G>A, NM_178353.2:c.-55G>T

Select item 14867738407.

rs1486773840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152784893 (GRCh38)
1:152757369 (GRCh37)
Canonical SPDI:: NC_000001.11:152784892:G:A
Gene:: LCE1E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.152784893G>A, NC_000001.10:g.152757369G>A

Select item 14865537518.

rs1486553751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:152788774 (GRCh38)
1:152761250 (GRCh37)
Canonical SPDI:: NC_000001.11:152788773:T:C
Gene:: LCE1E (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.152788774T>C, NC_000001.10:g.152761250T>C

Select item 14864786259.

rs1486478625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:152785053 (GRCh38)
1:152757529 (GRCh37)
Canonical SPDI:: NC_000001.11:152785052:T:C
Gene:: LCE1E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.152785053T>C, NC_000001.10:g.152757529T>C

Select item 148579684110.

rs1485796841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152787435 (GRCh38)
1:152759911 (GRCh37)
Canonical SPDI:: NC_000001.11:152787434:G:A
Gene:: LCE1E (Varview)
Functional Consequence:: missense_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)
HGVS:: NC_000001.11:g.152787435G>A, NC_000001.10:g.152759911G>A, NM_178353.2:c.136G>A, NM_178353.1:c.136G>A, NP_848130.1:p.Val46Ile

Select item 148560070911.

rs1485600709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:152787874 (GRCh38)
1:152760350 (GRCh37)
Canonical SPDI:: NC_000001.11:152787873:A:G
Gene:: LCE1E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152787874A>G, NC_000001.10:g.152760350A>G, NM_178353.2:c.*218A>G, NM_178353.1:c.*218A>G

Select item 148354948712.

rs1483549487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:152787823 (GRCh38)
1:152760299 (GRCh37)
Canonical SPDI:: NC_000001.11:152787822:C:A,NC_000001.11:152787822:C:T
Gene:: LCE1E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.152787823C>A, NC_000001.11:g.152787823C>T, NC_000001.10:g.152760299C>A, NC_000001.10:g.152760299C>T, NM_178353.2:c.*167C>A, NM_178353.2:c.*167C>T, NM_178353.1:c.*167C>A, NM_178353.1:c.*167C>T

Select item 148262437913.

rs1482624379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:152786982 (GRCh38)
1:152759458 (GRCh37)
Canonical SPDI:: NC_000001.11:152786981:T:C
Gene:: LCE1E (Varview)
Functional Consequence:: intron_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_000001.11:g.152786982T>C, NC_000001.10:g.152759458T>C

Select item 148233495214.

rs1482334952 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:152787112 (GRCh38)
1:152759588 (GRCh37)
Canonical SPDI:: NC_000001.11:152787106:ACACACA:ACACA
Gene:: LCE1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152787108CA[2], NC_000001.10:g.152759584CA[2]

Select item 148129902015.

rs1481299020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:152784385 (GRCh38)
1:152756861 (GRCh37)
Canonical SPDI:: NC_000001.11:152784384:T:C
Gene:: LCE1E (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152784385T>C, NC_000001.10:g.152756861T>C

Select item 148091163616.

rs1480911636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152785555 (GRCh38)
1:152758031 (GRCh37)
Canonical SPDI:: NC_000001.11:152785554:G:A
Gene:: LCE1E (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000001.11:g.152785555G>A, NC_000001.10:g.152758031G>A

Select item 148082084717.

rs1480820847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:152786703 (GRCh38)
1:152759179 (GRCh37)
Canonical SPDI:: NC_000001.11:152786702:A:G
Gene:: LCE1E (Varview)
Functional Consequence:: intron_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_000001.11:g.152786703A>G, NC_000001.10:g.152759179A>G

Select item 147984850818.

rs1479848508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:152787888 (GRCh38)
1:152760364 (GRCh37)
Canonical SPDI:: NC_000001.11:152787887:G:C
Gene:: LCE1E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152787888G>C, NC_000001.10:g.152760364G>C, NM_178353.2:c.*232G>C, NM_178353.1:c.*232G>C

Select item 147797421819.

rs1477974218 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGT>- [Show Flanks]
Chromosome:: 1:152784399 (GRCh38)
1:152756875 (GRCh37)
Canonical SPDI:: NC_000001.11:152784395:TGTATGT:TGT
Gene:: LCE1E (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.152784399_152784402del, NC_000001.10:g.152756875_152756878del

Select item 147590244220.

rs1475902442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152784921 (GRCh38)
1:152757397 (GRCh37)
Canonical SPDI:: NC_000001.11:152784920:G:A
Gene:: LCE1E (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001119/5 (ALFA)
A=0.000029/4 (GnomAD)
A=0.001116/5 (Estonian)
HGVS:: NC_000001.11:g.152784921G>A, NC_000001.10:g.152757397G>A

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