SNP Links for Gene (Select 221091) - SNP

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Items: 1 to 20 of 1719

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Select item 14912158721.

rs1491215872 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 11:62689952 (GRCh38)
11:62457424 (GRCh37)
Canonical SPDI:: NC_000011.10:62689950:AAA:A
Gene:: BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62689952_62689953del, NC_000011.9:g.62457424_62457425del, NG_008461.1:g.24623_24624del, NG_033077.1:g.4948_4949del

Select item 14908340672.

rs1490834067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62685931 (GRCh38)
11:62453403 (GRCh37)
Canonical SPDI:: NC_000011.10:62685930:T:C
Gene:: LRRN4CL (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.62685931T>C, NC_000011.9:g.62453403T>C, NG_033077.1:g.8969A>G

Select item 14900842863.

rs1490084286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62691146 (GRCh38)
11:62458618 (GRCh37)
Canonical SPDI:: NC_000011.10:62691145:G:A
Gene:: BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.62691146G>A, NC_000011.9:g.62458618G>A, NG_008461.1:g.23429C>T, NG_033077.1:g.3754C>T

Select item 14896739404.

rs1489673940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62690760 (GRCh38)
11:62458232 (GRCh37)
Canonical SPDI:: NC_000011.10:62690759:G:A
Gene:: BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000011.10:g.62690760G>A, NC_000011.9:g.62458232G>A, NG_008461.1:g.23815C>T, NG_033077.1:g.4140C>T

Select item 14884101185.

rs1488410118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62690426 (GRCh38)
11:62457898 (GRCh37)
Canonical SPDI:: NC_000011.10:62690425:C:T
Gene:: BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62690426C>T, NC_000011.9:g.62457898C>T, NG_008461.1:g.24149G>A, NM_032667.6:c.1138G>A, NM_001122955.4:c.1330G>A, NM_001122955.3:c.1330G>A, NM_001130702.2:c.*132G>A, NM_001386027.1:c.1336G>A, NM_001386028.1:c.1330G>A, NG_033077.1:g.4474G>A, NR_037946.1:n.3850G>A, NR_037949.1:n.1938G>A, NR_037948.1:n.1932G>A, NP_116056.3:p.Gly380Ser, NP_001116427.1:p.Gly444Ser, NP_001372956.1:p.Gly446Ser, NP_001372957.1:p.Gly444Ser

Select item 14880804516.

rs1488080451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62688498 (GRCh38)
11:62455970 (GRCh37)
Canonical SPDI:: NC_000011.10:62688497:G:A
Gene:: LRRN4CL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62688498G>A, NC_000011.9:g.62455970G>A, NG_008461.1:g.26077C>T, NG_033077.1:g.6402C>T, NM_203422.4:c.11C>T, NM_203422.3:c.11C>T, NP_981967.1:p.Ser4Phe

Select item 14878019247.

rs1487801924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:62689621 (GRCh38)
11:62457093 (GRCh37)
Canonical SPDI:: NC_000011.10:62689620:G:A,NC_000011.10:62689620:G:C
Gene:: LRRN4CL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.62689621G>A, NC_000011.10:g.62689621G>C, NC_000011.9:g.62457093G>A, NC_000011.9:g.62457093G>C, NG_008461.1:g.24954C>T, NG_008461.1:g.24954C>G, NG_033077.1:g.5279C>T, NG_033077.1:g.5279C>G, NM_203422.3:c.-200C>T, NM_203422.3:c.-200C>G

Select item 14877607308.

rs1487760730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62687988 (GRCh38)
11:62455460 (GRCh37)
Canonical SPDI:: NC_000011.10:62687987:C:T
Gene:: LRRN4CL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.62687988C>T, NC_000011.9:g.62455460C>T, NG_033077.1:g.6912G>A, NM_203422.4:c.521G>A, NM_203422.3:c.521G>A, NP_981967.1:p.Gly174Glu

Select item 14877251269.

rs1487725126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:62688492 (GRCh38)
11:62455964 (GRCh37)
Canonical SPDI:: NC_000011.10:62688491:C:G,NC_000011.10:62688491:C:T
Gene:: LRRN4CL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62688492C>G, NC_000011.10:g.62688492C>T, NC_000011.9:g.62455964C>G, NC_000011.9:g.62455964C>T, NG_008461.1:g.26083G>C, NG_008461.1:g.26083G>A, NG_033077.1:g.6408G>C, NG_033077.1:g.6408G>A, NM_203422.4:c.17G>C, NM_203422.4:c.17G>A, NM_203422.3:c.17G>C, NM_203422.3:c.17G>A, NP_981967.1:p.Cys6Ser, NP_981967.1:p.Cys6Tyr

Select item 148707380610.

rs1487073806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62690295 (GRCh38)
11:62457767 (GRCh37)
Canonical SPDI:: NC_000011.10:62690294:T:C
Gene:: BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.62690295T>C, NC_000011.9:g.62457767T>C, NG_008461.1:g.24280A>G, NM_032667.6:c.*72A>G, NM_001122955.4:c.*72A>G, NM_001122955.3:c.*72A>G, NM_001130702.2:c.*263A>G, NM_001386027.1:c.*72A>G, NM_001386028.1:c.*72A>G, NG_033077.1:g.4605A>G, NR_037946.1:n.3981A>G, NR_037949.1:n.2069A>G, NR_037948.1:n.2063A>G

Select item 148657947011.

rs1486579470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62690063 (GRCh38)
11:62457535 (GRCh37)
Canonical SPDI:: NC_000011.10:62690062:G:A
Gene:: BSCL2 (Varview), LRRN4CL (Varview), HNRNPUL2-BSCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.62690063G>A, NC_000011.9:g.62457535G>A, NG_008461.1:g.24512C>T, NG_033077.1:g.4837C>T

Select item 148646950112.

rs1486469501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:62688294 (GRCh38)
11:62455766 (GRCh37)
Canonical SPDI:: NC_000011.10:62688293:A:C
Gene:: LRRN4CL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62688294A>C, NC_000011.9:g.62455766A>C, NG_008461.1:g.26281T>G, NG_033077.1:g.6606T>G, NM_203422.4:c.215T>G, NM_203422.3:c.215T>G, NP_981967.1:p.Leu72Arg

Select item 148622726613.

rs1486227266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62688835 (GRCh38)
11:62456307 (GRCh37)
Canonical SPDI:: NC_000011.10:62688834:A:G
Gene:: LRRN4CL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.62688835A>G, NC_000011.9:g.62456307A>G, NG_008461.1:g.25740T>C, NG_033077.1:g.6065T>C

Select item 148554920514.

rs1485549205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62686504 (GRCh38)
11:62453976 (GRCh37)
Canonical SPDI:: NC_000011.10:62686503:T:C
Gene:: LRRN4CL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.62686504T>C, NC_000011.9:g.62453976T>C, NG_033077.1:g.8396A>G, NM_203422.4:c.*1288A>G, NM_203422.3:c.*1288A>G

Select item 148526861115.

rs1485268611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:62687623 (GRCh38)
11:62455095 (GRCh37)
Canonical SPDI:: NC_000011.10:62687622:A:C
Gene:: LRRN4CL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62687623A>C, NC_000011.9:g.62455095A>C, NG_033077.1:g.7277T>G, NM_203422.4:c.*169T>G, NM_203422.3:c.*169T>G

Select item 148496995116.

rs1484969951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62691700 (GRCh38)
11:62459172 (GRCh37)
Canonical SPDI:: NC_000011.10:62691699:A:G
Gene:: BSCL2 (Varview), HNRNPUL2-BSCL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62691700A>G, NC_000011.9:g.62459172A>G, NG_008461.1:g.22875T>C, NG_033077.1:g.3200T>C

Select item 148481281717.

rs1484812817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62688387 (GRCh38)
11:62455859 (GRCh37)
Canonical SPDI:: NC_000011.10:62688386:G:A
Gene:: LRRN4CL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62688387G>A, NC_000011.9:g.62455859G>A, NG_008461.1:g.26188C>T, NG_033077.1:g.6513C>T, NM_203422.4:c.122C>T, NM_203422.3:c.122C>T, NP_981967.1:p.Pro41Leu

Select item 148429040318.

rs1484290403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62687151 (GRCh38)
11:62454623 (GRCh37)
Canonical SPDI:: NC_000011.10:62687150:G:A
Gene:: LRRN4CL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62687151G>A, NC_000011.9:g.62454623G>A, NG_033077.1:g.7749C>T, NM_203422.4:c.*641C>T, NM_203422.3:c.*641C>T

Select item 148427135919.

rs1484271359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62687984 (GRCh38)
11:62455456 (GRCh37)
Canonical SPDI:: NC_000011.10:62687983:G:A
Gene:: LRRN4CL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000011.10:g.62687984G>A, NC_000011.9:g.62455456G>A, NG_033077.1:g.6916C>T, NM_203422.4:c.525C>T, NM_203422.3:c.525C>T

Select item 148363859220.

rs1483638592 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:62688554 (GRCh38)
11:62456026 (GRCh37)
Canonical SPDI:: NC_000011.10:62688553:A:C
Gene:: LRRN4CL (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_000011.10:g.62688554A>C, NC_000011.9:g.62456026A>C, NG_008461.1:g.26021T>G, NG_033077.1:g.6346T>G

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