SNP Links for Gene (Select 55379) - SNP

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Select item 14914833521.

rs1491483352 has merged into rs57027679 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:50390107 (GRCh38)
17:48467468 (GRCh37)
Canonical SPDI:: NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50390097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRRC59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.010873/2878 (TOPMED)
HGVS:: NC_000017.11:g.50390107_50390116del, NC_000017.11:g.50390108_50390116del, NC_000017.11:g.50390109_50390116del, NC_000017.11:g.50390110_50390116del, NC_000017.11:g.50390111_50390116del, NC_000017.11:g.50390112_50390116del, NC_000017.11:g.50390113_50390116del, NC_000017.11:g.50390114_50390116del, NC_000017.11:g.50390115_50390116del, NC_000017.11:g.50390116del, NC_000017.11:g.50390116dup, NC_000017.11:g.50390115_50390116dup, NC_000017.11:g.50390114_50390116dup, NC_000017.11:g.50390113_50390116dup, NC_000017.11:g.50390112_50390116dup, NC_000017.11:g.50390111_50390116dup, NC_000017.11:g.50390110_50390116dup, NC_000017.11:g.50390108_50390116dup, NC_000017.11:g.50390107_50390116dup, NC_000017.10:g.48467468_48467477del, NC_000017.10:g.48467469_48467477del, NC_000017.10:g.48467470_48467477del, NC_000017.10:g.48467471_48467477del, NC_000017.10:g.48467472_48467477del, NC_000017.10:g.48467473_48467477del, NC_000017.10:g.48467474_48467477del, NC_000017.10:g.48467475_48467477del, NC_000017.10:g.48467476_48467477del, NC_000017.10:g.48467477del, NC_000017.10:g.48467477dup, NC_000017.10:g.48467476_48467477dup, NC_000017.10:g.48467475_48467477dup, NC_000017.10:g.48467474_48467477dup, NC_000017.10:g.48467473_48467477dup, NC_000017.10:g.48467472_48467477dup, NC_000017.10:g.48467471_48467477dup, NC_000017.10:g.48467469_48467477dup, NC_000017.10:g.48467468_48467477dup

Select item 14914813002.

rs1491481300 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:50394859 (GRCh38)
17:48472220 (GRCh37)
Canonical SPDI:: NC_000017.11:50394855:CTCTC:CTC
Gene:: LRRC59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.50394857TC[1], NC_000017.10:g.48472218TC[1]

Select item 14914539293.

rs1491453929 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:50390097 (GRCh38)
17:48467458 (GRCh37)
Canonical SPDI:: NC_000017.11:50390096:CA:
Gene:: LRRC59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00194/23 (ALFA)
HGVS:: NC_000017.11:g.50390097_50390098del, NC_000017.10:g.48467458_48467459del

Select item 14910236804.

rs1491023680 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:50395372 (GRCh38)
17:48472733 (GRCh37)
Canonical SPDI:: NC_000017.11:50395370:AGA:A
Gene:: LRRC59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.50395372_50395373del, NC_000017.10:g.48472733_48472734del

Select item 14907395625.

rs1490739562 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:50397247 (GRCh38)
17:48474608 (GRCh37)
Canonical SPDI:: NC_000017.11:50397246:A:C
Gene:: LRRC59 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.50397247A>C, NC_000017.10:g.48474608A>C, NM_018509.4:c.71T>G, NM_018509.3:c.71T>G, NP_060979.2:p.Leu24Arg

Select item 14907346306.

rs1490734630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50398099 (GRCh38)
17:48475460 (GRCh37)
Canonical SPDI:: NC_000017.11:50398098:C:T
Gene:: LRRC59 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.50398099C>T, NC_000017.10:g.48475460C>T

Select item 14907009887.

rs1490700988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50381195 (GRCh38)
17:48458556 (GRCh37)
Canonical SPDI:: NC_000017.11:50381194:C:T
Gene:: LRRC59 (Varview), EME1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50381195C>T, NC_000017.10:g.48458556C>T, NG_029665.1:g.12976C>T, NM_152463.4:c.*256C>T, NM_152463.3:c.*256C>T, NM_152463.2:c.*256C>T, NM_001166131.2:c.*256C>T, NM_001166131.1:c.*256C>T, XM_005257081.4:c.*256C>T, XM_005257081.3:c.*256C>T, XM_005257081.2:c.*256C>T, XM_005257081.1:c.*256C>T, XM_017024236.3:c.*256C>T, XM_017024236.2:c.*256C>T, XM_017024236.1:c.*256C>T, XM_047435470.1:c.*256C>T, XM_047435472.1:c.*256C>T

Select item 14905754788.

rs1490575478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50396773 (GRCh38)
17:48474134 (GRCh37)
Canonical SPDI:: NC_000017.11:50396772:G:A
Gene:: LRRC59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.50396773G>A, NC_000017.10:g.48474134G>A

Select item 14905722499.

rs1490572249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50381900 (GRCh38)
17:48459261 (GRCh37)
Canonical SPDI:: NC_000017.11:50381899:G:A
Gene:: LRRC59 (Varview), EME1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.50381900G>A, NC_000017.10:g.48459261G>A, NG_029665.1:g.13681G>A, NM_018509.4:c.*1088C>T, NM_018509.3:c.*1088C>T

Select item 149057016110.

rs1490570161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50397639 (GRCh38)
17:48475000 (GRCh37)
Canonical SPDI:: NC_000017.11:50397638:G:A
Gene:: LRRC59 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.50397639G>A, NC_000017.10:g.48475000G>A

Select item 149052382411.

rs1490523824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:50381674 (GRCh38)
17:48459035 (GRCh37)
Canonical SPDI:: NC_000017.11:50381673:A:C
Gene:: LRRC59 (Varview), EME1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.50381674A>C, NC_000017.10:g.48459035A>C, NG_029665.1:g.13455A>C, NM_018509.4:c.*1314T>G, NM_018509.3:c.*1314T>G

Select item 149047840812.

rs1490478408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50390114 (GRCh38)
17:48467475 (GRCh37)
Canonical SPDI:: NC_000017.11:50390113:A:G
Gene:: LRRC59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50390114A>G, NC_000017.10:g.48467475A>G

Select item 149031515613.

rs1490315156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:50399463 (GRCh38)
17:48476824 (GRCh37)
Canonical SPDI:: NC_000017.11:50399462:G:A,NC_000017.11:50399462:G:T
Gene:: LRRC59 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000142/2 (TOMMO)
HGVS:: NC_000017.11:g.50399463G>A, NC_000017.11:g.50399463G>T, NC_000017.10:g.48476824G>A, NC_000017.10:g.48476824G>T

Select item 148982617014.

rs1489826170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:50398254 (GRCh38)
17:48475615 (GRCh37)
Canonical SPDI:: NC_000017.11:50398253:T:A
Gene:: LRRC59 (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=0.000343/1 (KOREAN)
HGVS:: NC_000017.11:g.50398254T>A, NC_000017.10:g.48475615T>A

Select item 148981057815.

rs1489810578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:50396324 (GRCh38)
17:48473685 (GRCh37)
Canonical SPDI:: NC_000017.11:50396323:A:C
Gene:: LRRC59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000108/2 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.50396324A>C, NC_000017.10:g.48473685A>C

Select item 148952478116.

rs1489524781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50383019 (GRCh38)
17:48460380 (GRCh37)
Canonical SPDI:: NC_000017.11:50383018:T:C
Gene:: LRRC59 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50383019T>C, NC_000017.10:g.48460380T>C, NG_029665.1:g.14800T>C, NM_018509.4:c.893A>G, NM_018509.3:c.893A>G, NP_060979.2:p.Gln298Arg

Select item 148950846517.

rs1489508465 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:50391210 (GRCh38)
17:48468571 (GRCh37)
Canonical SPDI:: NC_000017.11:50391207:AGAG:AG
Gene:: LRRC59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
HGVS:: NC_000017.11:g.50391208AG[1], NC_000017.10:g.48468569AG[1]

Select item 148943039018.

rs1489430390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50395899 (GRCh38)
17:48473260 (GRCh37)
Canonical SPDI:: NC_000017.11:50395898:T:C
Gene:: LRRC59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.50395899T>C, NC_000017.10:g.48473260T>C

Select item 148910429419.

rs1489104294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50398463 (GRCh38)
17:48475824 (GRCh37)
Canonical SPDI:: NC_000017.11:50398462:G:A
Gene:: LRRC59 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.50398463G>A, NC_000017.10:g.48475824G>A

Select item 148884634320.

rs1488846343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50395454 (GRCh38)
17:48472815 (GRCh37)
Canonical SPDI:: NC_000017.11:50395453:C:T
Gene:: LRRC59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.50395454C>T, NC_000017.10:g.48472815C>T

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