SNP Links for Gene (Select 23547) - SNP

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Select item 14915264451.

rs1491526445 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 19:54334811 (GRCh38)
19:54846083 (GRCh37)
Canonical SPDI:: NC_000019.10:54334811:A:ACA
Gene:: LILRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.00024/6 (GnomAD)
HGVS:: NC_000019.10:g.54334812_54334813insCA, NW_004166865.1:g.309179_309180insCA, NW_003571055.2:g.316159_316160insCA, NW_003571055.1:g.316158_316159insCA, NT_187693.1:g.317197_317198insCA, NC_000019.9:g.54846083_54846084insCA

Select item 14914170522.

rs1491417052 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:54334810 (GRCh38)
19:54846081 (GRCh37)
Canonical SPDI:: NC_000019.10:54334808:ACA:A
Gene:: LILRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.06904/256 (TWINSUK)
-=0.08199/316 (ALSPAC)
HGVS:: NC_000019.10:g.54334810_54334811del, NW_004166865.1:g.309177_309178del, NW_003571061.2:g.316322dup, NW_003571061.2:g.316309del, NT_187693.1:g.317195_317196del, NC_000019.9:g.54846081_54846082del, NW_003571061.1:g.316321dup, NW_003571061.1:g.316308del

Select item 14913666223.

rs1491366622 has merged into rs569409379 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT,CTCTCT [Show Flanks]
Chromosome:: 19:54337231 (GRCh38)
19:54848502 (GRCh37)
Canonical SPDI:: NC_000019.10:54337229:TCT:T,NC_000019.10:54337229:TCT:TCTCT,NC_000019.10:54337229:TCT:TCTCTCT
Gene:: LILRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000022/3 (GnomAD)
-=0.000539/2 (TWINSUK)
-=0.000778/3 (ALSPAC)
TCTC=0.000849/24 (TOMMO)
-=0.001667/1 (NorthernSweden)
HGVS:: NC_000019.10:g.54337231_54337232del, NC_000019.10:g.54337231_54337232dup, NC_000019.10:g.54337231CT[3], NW_004166865.1:g.311598_311599del, NW_004166865.1:g.311598_311599dup, NW_004166865.1:g.311598CT[3], NW_003571061.2:g.318732_318733del, NW_003571061.2:g.318732_318733dup, NW_003571061.2:g.318732CT[3], NW_003571061.1:g.318731_318732del, NW_003571061.1:g.318731_318732dup, NW_003571061.1:g.318731CT[3], NW_003571055.2:g.318578_318579del, NW_003571055.2:g.318578_318579dup, NW_003571055.2:g.318578CT[3], NW_003571055.1:g.318577_318578del, NW_003571055.1:g.318577_318578dup, NW_003571055.1:g.318577CT[3], NT_187693.1:g.319616_319617del, NT_187693.1:g.319616_319617dup, NT_187693.1:g.319616CT[3], NC_000019.9:g.54848502_54848503del, NC_000019.9:g.54848502_54848503dup, NC_000019.9:g.54848502CT[3]

Select item 14909780604.

rs1490978060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:54341160 (GRCh38)
19:54852432 (GRCh37)
Canonical SPDI:: NC_000019.10:54341159:A:G
Gene:: LILRA4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54341160A>G, NW_004166865.1:g.315527A>G, NW_003571061.2:g.322660A>G, NW_003571061.1:g.322659A>G, NW_003571055.2:g.322508A>G, NW_003571055.1:g.322507A>G, NT_187693.1:g.323546A>G, NC_000019.9:g.54852432A>G

Select item 14907744345.

rs1490774434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54339309 (GRCh38)
19:54850580 (GRCh37)
Canonical SPDI:: NC_000019.10:54339308:G:A
Gene:: LILRA4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00005/7 (GnomAD)
A=0.000177/5 (TOMMO)
HGVS:: NC_000019.10:g.54339309G>A, NW_004166865.1:g.313676G>A, NW_003571061.2:g.320810G>A, NW_003571061.1:g.320809G>A, NW_003571055.2:g.320656G>A, NW_003571055.1:g.320655G>A, NT_187693.1:g.321694G>A, NC_000019.9:g.54850580G>A

Select item 14906117976.

rs1490611797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:54339672 (GRCh38)
19:54850942 (GRCh37)
Canonical SPDI:: NC_000019.10:54339671:G:A,NC_000019.10:54339671:G:C
Gene:: LILRA4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.54339672G>A, NC_000019.10:g.54339672G>C, NW_004166865.1:g.314039G>A, NW_004166865.1:g.314039G>C, NW_003571061.2:g.321172G>A, NW_003571061.2:g.321172G>C, NW_003571061.1:g.321171G>A, NW_003571061.1:g.321171G>C, NW_003571055.2:g.321018G>A, NW_003571055.2:g.321018G>C, NW_003571055.1:g.321017G>A, NW_003571055.1:g.321017G>C, NT_187693.1:g.322056G>A, NT_187693.1:g.322056G>C, NC_000019.9:g.54850942G>A, NC_000019.9:g.54850942G>C

Select item 14893740167.

rs1489374016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:54337941 (GRCh38)
19:54849212 (GRCh37)
Canonical SPDI:: NC_000019.10:54337940:A:G
Gene:: LILRA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.54337941A>G, NW_004166865.1:g.312308A>G, NW_003571061.2:g.319442A>G, NW_003571061.1:g.319441A>G, NW_003571055.2:g.319288A>G, NW_003571055.1:g.319287A>G, NT_187693.1:g.320326A>G, NC_000019.9:g.54849212A>G, NM_012276.5:c.650T>C, NM_012276.4:c.650T>C, NM_012276.3:c.650T>C, NP_036408.4:p.Val217Ala

Select item 14892130478.

rs1489213047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:54339925 (GRCh38)
19:54851195 (GRCh37)
Canonical SPDI:: NC_000019.10:54339924:G:C
Gene:: LILRA4 (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_000019.10:g.54339925G>C, NW_004166865.1:g.314292G>C, NW_003571061.2:g.321425G>C, NW_003571061.1:g.321424G>C, NW_003571055.2:g.321271G>C, NW_003571055.1:g.321270G>C, NT_187693.1:g.322309G>C, NC_000019.9:g.54851195G>C

Select item 14891578379.

rs1489157837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:54338900 (GRCh38)
19:54850171 (GRCh37)
Canonical SPDI:: NC_000019.10:54338899:C:G,NC_000019.10:54338899:C:T
Gene:: LILRA4 (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)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.54338900C>G, NC_000019.10:g.54338900C>T, NW_004166865.1:g.313267C>G, NW_004166865.1:g.313267C>T, NW_003571061.2:g.320401C>G, NW_003571061.2:g.320401C>T, NW_003571061.1:g.320400C>G, NW_003571061.1:g.320400C>T, NW_003571055.2:g.320247C>G, NW_003571055.2:g.320247C>T, NW_003571055.1:g.320246C>G, NW_003571055.1:g.320246C>T, NT_187693.1:g.321285C>G, NT_187693.1:g.321285C>T, NC_000019.9:g.54850171C>G, NC_000019.9:g.54850171C>T, NM_012276.5:c.36G>C, NM_012276.5:c.36G>A, NM_012276.4:c.36G>C, NM_012276.4:c.36G>A, NM_012276.3:c.36G>C, NM_012276.3:c.36G>A

Select item 148913646910.

rs1489136469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:54336295 (GRCh38)
19:54847566 (GRCh37)
Canonical SPDI:: NC_000019.10:54336294:A:C
Gene:: LILRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.54336295A>C, NW_004166865.1:g.310662A>C, NW_003571061.2:g.317796A>C, NW_003571061.1:g.317795A>C, NW_003571055.2:g.317642A>C, NW_003571055.1:g.317641A>C, NT_187693.1:g.318680A>C, NC_000019.9:g.54847566A>C

Select item 148911600811.

rs1489116008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:54338338 (GRCh38)
19:54849609 (GRCh37)
Canonical SPDI:: NC_000019.10:54338337:A:T
Gene:: LILRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.54338338A>T, NW_004166865.1:g.312705A>T, NW_003571061.2:g.319839A>T, NW_003571061.1:g.319838A>T, NW_003571055.2:g.319685A>T, NW_003571055.1:g.319684A>T, NT_187693.1:g.320723A>T, NC_000019.9:g.54849609A>T

Select item 148894699712.

rs1488946997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54337055 (GRCh38)
19:54848326 (GRCh37)
Canonical SPDI:: NC_000019.10:54337054:C:T
Gene:: LILRA4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54337055C>T, NW_004166865.1:g.311422C>T, NW_003571061.2:g.318556C>T, NW_003571061.1:g.318555C>T, NW_003571055.2:g.318402C>T, NW_003571055.1:g.318401C>T, NT_187693.1:g.319440C>T, NC_000019.9:g.54848326C>T, NM_012276.5:c.1041G>A, NM_012276.4:c.1041G>A, NM_012276.3:c.1041G>A, NP_036408.4:p.Trp347Ter

Select item 148888402113.

rs1488884021 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACA>- [Show Flanks]
Chromosome:: 19:54340381 (GRCh38)
19:54851651 (GRCh37)
Canonical SPDI:: NC_000019.10:54340379:AGACA:A
Gene:: LILRA4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54340381_54340384del, NW_004166865.1:g.314748_314751del, NW_003571061.2:g.321881_321884del, NW_003571061.1:g.321880_321883del, NW_003571055.2:g.321727_321730del, NW_003571055.1:g.321726_321729del, NT_187693.1:g.322765_322768del, NC_000019.9:g.54851651_54851654del

Select item 148845058814.

rs1488450588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54334400 (GRCh38)
19:54845671 (GRCh37)
Canonical SPDI:: NC_000019.10:54334399:C:T
Gene:: LILRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.54334400C>T, NW_004166865.1:g.308767C>T, NW_003571061.2:g.315899C>T, NW_003571061.1:g.315898C>T, NW_003571055.2:g.315745C>T, NW_003571055.1:g.315744C>T, NT_187693.1:g.316785C>T, NC_000019.9:g.54845671C>T

Select item 148844734515.

rs1488447345 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:54338952 (GRCh38)
19:54850223 (GRCh37)
Canonical SPDI:: NC_000019.10:54338951:T:G
Gene:: LILRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54338952T>G, NW_004166865.1:g.313319T>G, NW_003571061.2:g.320453T>G, NW_003571061.1:g.320452T>G, NW_003571055.2:g.320299T>G, NW_003571055.1:g.320298T>G, NT_187693.1:g.321337T>G, NC_000019.9:g.54850223T>G

Select item 148823780616.

rs1488237806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:54335069 (GRCh38)
19:54846340 (GRCh37)
Canonical SPDI:: NC_000019.10:54335068:T:C
Gene:: LILRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.54335069T>C, NW_004166865.1:g.309436T>C, NW_003571061.2:g.316566T>C, NW_003571061.1:g.316565T>C, NW_003571055.2:g.316416T>C, NW_003571055.1:g.316415T>C, NT_187693.1:g.317454T>C, NC_000019.9:g.54846340T>C

Select item 148804143217.

rs1488041432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54339692 (GRCh38)
19:54850962 (GRCh37)
Canonical SPDI:: NC_000019.10:54339691:C:T
Gene:: LILRA4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000019.10:g.54339692C>T, NW_004166865.1:g.314059C>T, NW_003571061.2:g.321192C>T, NW_003571061.1:g.321191C>T, NW_003571055.2:g.321038C>T, NW_003571055.1:g.321037C>T, NT_187693.1:g.322076C>T, NC_000019.9:g.54850962C>T

Select item 148790526918.

rs1487905269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54334768 (GRCh38)
19:54846039 (GRCh37)
Canonical SPDI:: NC_000019.10:54334767:C:T
Gene:: LILRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000343/1 (KOREAN)
HGVS:: NC_000019.10:g.54334768C>T, NW_004166865.1:g.309135C>T, NW_003571061.2:g.316267C>T, NW_003571061.1:g.316266C>T, NW_003571055.2:g.316113C>T, NW_003571055.1:g.316112C>T, NT_187693.1:g.317153C>T, NC_000019.9:g.54846039C>T

Select item 148669597019.

rs1486695970 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:54338985 (GRCh38)
19:54850256 (GRCh37)
Canonical SPDI:: NC_000019.10:54338984:A:G
Gene:: LILRA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.54338985A>G, NW_004166865.1:g.313352A>G, NW_003571061.2:g.320486A>G, NW_003571061.1:g.320485A>G, NW_003571055.2:g.320332A>G, NW_003571055.1:g.320331A>G, NT_187693.1:g.321370A>G, NC_000019.9:g.54850256A>G

Select item 148652329520.

rs1486523295 has merged into rs34996204 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 19:54340770 (GRCh38)
19:54852040 (GRCh37)
Canonical SPDI:: NC_000019.10:54340769:AAAAAAAAAA:AAAAAAAAA,NC_000019.10:54340769:AAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:54340769:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: LILRA4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0.0002/1 (ALFA)
HGVS:: NC_000019.10:g.54340779del, NC_000019.10:g.54340779dup, NC_000019.10:g.54340778_54340779dup, NW_004166865.1:g.315146del, NW_004166865.1:g.315146dup, NW_004166865.1:g.315145_315146dup, NW_003571061.2:g.322279del, NW_003571061.2:g.322279dup, NW_003571061.2:g.322278_322279dup, NW_003571061.1:g.322278del, NW_003571061.1:g.322278dup, NW_003571061.1:g.322277_322278dup, NW_003571055.2:g.322126del, NW_003571055.2:g.322126dup, NW_003571055.2:g.322125_322126dup, NW_003571055.1:g.322125del, NW_003571055.1:g.322125dup, NW_003571055.1:g.322124_322125dup, NT_187693.1:g.323164del, NT_187693.1:g.323164dup, NT_187693.1:g.323163_323164dup, NC_000019.9:g.54852050del, NC_000019.9:g.54852050dup, NC_000019.9:g.54852049_54852050dup

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