SNP Links for Gene (Select 353131) - SNP

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Select item 14914654751.

rs1491465475 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:152827460 (GRCh38)
1:152799936 (GRCh37)
Canonical SPDI:: NC_000001.11:152827457:ACAC:AC
Gene:: LCE1A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAC=0.039233/818 (ALFA)
-=0.000035/1 (TOMMO)
-=0.010528/2609 (GnomAD_exomes)
-=0.015416/1852 (ExAC)
-=0.065027/9069 (GnomAD)
-=0.077452/388 (1000Genomes)
HGVS:: NC_000001.11:g.152827458AC[1], NC_000001.10:g.152799934AC[1]

Select item 14905974792.

rs1490597479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:152825887 (GRCh38)
1:152798363 (GRCh37)
Canonical SPDI:: NC_000001.11:152825886:C:A
Gene:: LCE1A (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.152825887C>A, NC_000001.10:g.152798363C>A

Select item 14905722803.

rs1490572280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152825769 (GRCh38)
1:152798245 (GRCh37)
Canonical SPDI:: NC_000001.11:152825768:G:A
Gene:: LCE1A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152825769G>A, NC_000001.10:g.152798245G>A

Select item 14881643834.

rs1488164383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:152827527 (GRCh38)
1:152800003 (GRCh37)
Canonical SPDI:: NC_000001.11:152827526:A:C,NC_000001.11:152827526:A:G
Gene:: LCE1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000018/1 (GnomAD)
C=0.000106/3 (TOMMO)
C=0.002729/5 (Korea1K)
C=0.051027/149 (KOREAN)
HGVS:: NC_000001.11:g.152827527A>C, NC_000001.11:g.152827527A>G, NC_000001.10:g.152800003A>C, NC_000001.10:g.152800003A>G, NM_178348.2:c.55A>C, NM_178348.2:c.55A>G, NP_848125.1:p.Lys19Gln, NP_848125.1:p.Lys19Glu

Select item 14881638115.

rs1488163811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:152828276 (GRCh38)
1:152800752 (GRCh37)
Canonical SPDI:: NC_000001.11:152828275:A:G
Gene:: LCE1A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152828276A>G, NC_000001.10:g.152800752A>G

Select item 14860107876.

rs1486010787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:152825534 (GRCh38)
1:152798010 (GRCh37)
Canonical SPDI:: NC_000001.11:152825533:G:C
Gene:: LCE1A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.152825534G>C, NC_000001.10:g.152798010G>C

Select item 14851403147.

rs1485140314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:152827069 (GRCh38)
1:152799545 (GRCh37)
Canonical SPDI:: NC_000001.11:152827068:A:G
Gene:: LCE1A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.152827069A>G, NC_000001.10:g.152799545A>G

Select item 14847827878.

rs1484782787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152828374 (GRCh38)
1:152800850 (GRCh37)
Canonical SPDI:: NC_000001.11:152828373:C:T
Gene:: LCE1A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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.152828374C>T, NC_000001.10:g.152800850C>T

Select item 14843413379.

rs1484341337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152825760 (GRCh38)
1:152798236 (GRCh37)
Canonical SPDI:: NC_000001.11:152825759:G:A
Gene:: LCE1A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152825760G>A, NC_000001.10:g.152798236G>A

Select item 148356102410.

rs1483561024 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:152827052 (GRCh38)
1:152799528 (GRCh37)
Canonical SPDI:: NC_000001.11:152827051:T:C
Gene:: LCE1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.152827052T>C, NC_000001.10:g.152799528T>C

Select item 148269416511.

rs1482694165 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:152827920 (GRCh38)
1:152800397 (GRCh37)
Canonical SPDI:: NC_000001.11:152827920:T:TT
Gene:: LCE1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000068/18 (TOPMED)
HGVS:: NC_000001.11:g.152827921dup, NC_000001.10:g.152800397dup, NM_178348.2:c.*116dup

Select item 148186409212.

rs1481864092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:152826263 (GRCh38)
1:152798739 (GRCh37)
Canonical SPDI:: NC_000001.11:152826262:G:T
Gene:: LCE1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.152826263G>T, NC_000001.10:g.152798739G>T

Select item 148087519013.

rs1480875190 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:152828365 (GRCh38)
1:152800841 (GRCh37)
Canonical SPDI:: NC_000001.11:152828364:A:C,NC_000001.11:152828364:A:T
Gene:: LCE1A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.152828365A>C, NC_000001.11:g.152828365A>T, NC_000001.10:g.152800841A>C, NC_000001.10:g.152800841A>T

Select item 148035167114.

rs1480351671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152828153 (GRCh38)
1:152800629 (GRCh37)
Canonical SPDI:: NC_000001.11:152828152:C:T
Gene:: LCE1A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.152828153C>T, NC_000001.10:g.152800629C>T

Select item 147948109415.

rs1479481094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:152827215 (GRCh38)
1:152799691 (GRCh37)
Canonical SPDI:: NC_000001.11:152827214:A:G
Gene:: LCE1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152827215A>G, NC_000001.10:g.152799691A>G

Select item 147898118816.

rs1478981188 has merged into rs1197960009 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAAAAA [Show Flanks]
Chromosome:: 1:152825559 (GRCh38)
1:152798035 (GRCh37)
Canonical SPDI:: NC_000001.11:152825558:AAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:152825558:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:152825558:AAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: LCE1A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.00012/2 (ALFA)
-=0.00071/12 (TOMMO)
HGVS:: NC_000001.11:g.152825569del, NC_000001.11:g.152825569dup, NC_000001.11:g.152825565_152825569dup, NC_000001.10:g.152798045del, NC_000001.10:g.152798045dup, NC_000001.10:g.152798041_152798045dup

Select item 147847438117.

rs1478474381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:152826837 (GRCh38)
1:152799313 (GRCh37)
Canonical SPDI:: NC_000001.11:152826836:G:C
Gene:: LCE1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.152826837G>C, NC_000001.10:g.152799313G>C

Select item 147559309418.

rs1475593094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:152827242 (GRCh38)
1:152799718 (GRCh37)
Canonical SPDI:: NC_000001.11:152827241:T:G
Gene:: LCE1A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.152827242T>G, NC_000001.10:g.152799718T>G

Select item 147482974419.

rs1474829744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:152826356 (GRCh38)
1:152798832 (GRCh37)
Canonical SPDI:: NC_000001.11:152826355:A:G
Gene:: LCE1A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.152826356A>G, NC_000001.10:g.152798832A>G

Select item 147476040820.

rs1474760408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:152826635 (GRCh38)
1:152799111 (GRCh37)
Canonical SPDI:: NC_000001.11:152826634:G:A,NC_000001.11:152826634:G:T
Gene:: LCE1A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.152826635G>A, NC_000001.11:g.152826635G>T, NC_000001.10:g.152799111G>A, NC_000001.10:g.152799111G>T

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