SNP Links for Gene (Select 57611) - SNP

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Select item 14915206131.

rs1491520613 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:74126372 (GRCh38)
15:74418714 (GRCh37)
Canonical SPDI:: NC_000015.10:74126372:G:GG
Gene:: ISLR2 (Varview), LOC283731 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000016/2 (GnomAD)
HGVS:: NC_000015.10:g.74126373dup, NC_000015.9:g.74418714dup, NR_027073.1:n.2566dup, NR_152622.1:n.2284dup

Select item 14913645272.

rs1491364527 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:74126372 (GRCh38)
15:74418713 (GRCh37)
Canonical SPDI:: NC_000015.10:74126371:TG:
Gene:: ISLR2 (Varview), LOC283731 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00093/11 (ALFA)
HGVS:: NC_000015.10:g.74126372_74126373del, NC_000015.9:g.74418713_74418714del

Select item 14909495963.

rs1490949596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:74128308 (GRCh38)
15:74420649 (GRCh37)
Canonical SPDI:: NC_000015.10:74128307:G:T
Gene:: ISLR2 (Varview), LOC283731 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,splice_donor_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.74128308G>T, NC_000015.9:g.74420649G>T, NR_027073.1:n.631C>A, NR_152622.1:n.631C>A

Select item 14908714164.

rs1490871416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:74129351 (GRCh38)
15:74421692 (GRCh37)
Canonical SPDI:: NC_000015.10:74129350:C:T
Gene:: ISLR2 (Varview), LOC283731 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,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_000015.10:g.74129351C>T, NC_000015.9:g.74421692C>T

Select item 14908569535.

rs1490856953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74129416 (GRCh38)
15:74421757 (GRCh37)
Canonical SPDI:: NC_000015.10:74129415:G:A
Gene:: ISLR2 (Varview), LOC283731 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_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_000015.10:g.74129416G>A, NC_000015.9:g.74421757G>A, NM_001130136.1:c.-727G>A

Select item 14908284176.

rs1490828417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:74133945 (GRCh38)
15:74426286 (GRCh37)
Canonical SPDI:: NC_000015.10:74133944:C:A
Gene:: ISLR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000015.10:g.74133945C>A, NC_000015.9:g.74426286C>A, XM_011521840.4:c.1191C>A, XM_011521840.3:c.1191C>A, XM_011521840.2:c.1191C>A, XM_011521840.1:c.1191C>A, XR_931875.4:n.1377C>A, XR_931875.3:n.1529C>A, XR_931875.2:n.1631C>A, XR_931875.1:n.1309C>A, NM_020851.3:c.1191C>A, NM_020851.2:c.1191C>A, XM_017022446.3:c.1191C>A, XM_017022446.2:c.1191C>A, XM_017022446.1:c.1191C>A, XM_024450005.2:c.1191C>A, XM_024450005.1:c.1191C>A, XM_011521841.2:c.1191C>A, XM_011521841.1:c.1191C>A, XM_024450003.2:c.1191C>A, XM_024450003.1:c.1191C>A, XM_024450004.2:c.1191C>A, XM_024450004.1:c.1191C>A, XM_024450006.2:c.1191C>A, XM_024450006.1:c.1191C>A, XM_024450007.2:c.1191C>A, XM_024450007.1:c.1191C>A, NM_001130138.2:c.1191C>A, NM_001130138.1:c.1191C>A, XM_024450008.2:c.1191C>A, XM_024450008.1:c.1191C>A, NM_001130136.1:c.1191C>A, NM_001130137.1:c.1191C>A, XM_047432905.1:c.1191C>A

Select item 14906334697.

rs1490633469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:74135951 (GRCh38)
15:74428292 (GRCh37)
Canonical SPDI:: NC_000015.10:74135950:C:A,NC_000015.10:74135950:C:T
Gene:: ISLR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.74135951C>A, NC_000015.10:g.74135951C>T, NC_000015.9:g.74428292C>A, NC_000015.9:g.74428292C>T, XM_011521840.4:c.*959C>A, XM_011521840.4:c.*959C>T, XM_011521840.3:c.*959C>A, XM_011521840.3:c.*959C>T, XM_011521840.2:c.*959C>A, XM_011521840.2:c.*959C>T, XM_011521840.1:c.*959C>A, XM_011521840.1:c.*959C>T, NM_020851.3:c.*959C>A, NM_020851.3:c.*959C>T, NM_020851.2:c.*959C>A, NM_020851.2:c.*959C>T, XM_024450005.2:c.*959C>A, XM_024450005.2:c.*959C>T, XM_011521841.2:c.*959C>A, XM_011521841.2:c.*959C>T, XM_011521841.1:c.*959C>A, XM_011521841.1:c.*959C>T, XM_024450003.2:c.*959C>A, XM_024450003.2:c.*959C>T, XM_024450004.2:c.*959C>A, XM_024450004.2:c.*959C>T, XM_024450006.2:c.*959C>A, XM_024450006.2:c.*959C>T, XM_024450007.2:c.*959C>A, XM_024450007.2:c.*959C>T, NM_001130138.2:c.*959C>A, NM_001130138.2:c.*959C>T, NM_001130138.1:c.*959C>A, NM_001130138.1:c.*959C>T, XM_024450008.2:c.*959C>A, XM_024450008.2:c.*959C>T, NM_001130136.1:c.*959C>A, NM_001130136.1:c.*959C>T, NM_001130137.1:c.*959C>A, NM_001130137.1:c.*959C>T, XM_047432905.1:c.*959C>A, XM_047432905.1:c.*959C>T

Select item 14904027328.

rs1490402732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74133649 (GRCh38)
15:74425990 (GRCh37)
Canonical SPDI:: NC_000015.10:74133648:G:A
Gene:: ISLR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74133649G>A, NC_000015.9:g.74425990G>A, XM_011521840.4:c.895G>A, XM_011521840.3:c.895G>A, XM_011521840.2:c.895G>A, XM_011521840.1:c.895G>A, XR_931875.4:n.1081G>A, XR_931875.3:n.1233G>A, XR_931875.2:n.1335G>A, XR_931875.1:n.1013G>A, NM_020851.3:c.895G>A, NM_020851.2:c.895G>A, XM_017022446.3:c.895G>A, XM_017022446.2:c.895G>A, XM_017022446.1:c.895G>A, XM_024450005.2:c.895G>A, XM_024450005.1:c.895G>A, XM_011521841.2:c.895G>A, XM_011521841.1:c.895G>A, XM_024450003.2:c.895G>A, XM_024450003.1:c.895G>A, XM_024450004.2:c.895G>A, XM_024450004.1:c.895G>A, XM_024450006.2:c.895G>A, XM_024450006.1:c.895G>A, XM_024450007.2:c.895G>A, XM_024450007.1:c.895G>A, NM_001130138.2:c.895G>A, NM_001130138.1:c.895G>A, XM_024450008.2:c.895G>A, XM_024450008.1:c.895G>A, NM_001130136.1:c.895G>A, NM_001130137.1:c.895G>A, XM_047432905.1:c.895G>A, XP_011520142.1:p.Glu299Lys, NP_065902.1:p.Glu299Lys, XP_016877935.1:p.Glu299Lys, XP_024305773.1:p.Glu299Lys, XP_011520143.1:p.Glu299Lys, XP_024305771.1:p.Glu299Lys, XP_024305772.1:p.Glu299Lys, XP_024305774.1:p.Glu299Lys, XP_024305775.1:p.Glu299Lys, NP_001123610.1:p.Glu299Lys, XP_024305776.1:p.Glu299Lys, NP_001123608.1:p.Glu299Lys, NP_001123609.1:p.Glu299Lys, XP_047288861.1:p.Glu299Lys

Select item 14903647989.

rs1490364798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:74129059 (GRCh38)
15:74421400 (GRCh37)
Canonical SPDI:: NC_000015.10:74129058:C:G,NC_000015.10:74129058:C:T
Gene:: ISLR2 (Varview), LOC283731 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.74129059C>G, NC_000015.10:g.74129059C>T, NC_000015.9:g.74421400C>G, NC_000015.9:g.74421400C>T, NR_027073.1:n.220G>C, NR_027073.1:n.220G>A, NR_152622.1:n.220G>C, NR_152622.1:n.220G>A

Select item 149014091110.

rs1490140911 has merged into rs370363634 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTATTT>-,ATTT,ATTTATTTATTT [Show Flanks]
Chromosome:: 15:74135512 (GRCh38)
15:74427853 (GRCh37)
Canonical SPDI:: NC_000015.10:74135496:TTTATTTATTTATTTATTTATTT:TTTATTTATTTATTT,NC_000015.10:74135496:TTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTT,NC_000015.10:74135496:TTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTT
Gene:: ISLR2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTTATTTATTTATTT=0./0 (ALFA)
TTTA=0.00004/1 (TOMMO)
TTTA=0.00055/1 (Korea1K)
-=0.0012/6 (1000Genomes)
HGVS:: NC_000015.10:g.74135500ATTT[3], NC_000015.10:g.74135500ATTT[4], NC_000015.10:g.74135500ATTT[6], NC_000015.9:g.74427841ATTT[3], NC_000015.9:g.74427841ATTT[4], NC_000015.9:g.74427841ATTT[6], XM_011521840.4:c.*508ATTT[3], XM_011521840.4:c.*508ATTT[4], XM_011521840.4:c.*508ATTT[6], XM_011521840.3:c.*508ATTT[3], XM_011521840.3:c.*508ATTT[4], XM_011521840.3:c.*508ATTT[6], XM_011521840.2:c.*508ATTT[3], XM_011521840.2:c.*508ATTT[4], XM_011521840.2:c.*508ATTT[6], XM_011521840.1:c.*508ATTT[3], XM_011521840.1:c.*508ATTT[4], XM_011521840.1:c.*508ATTT[6], NM_020851.3:c.*508ATTT[3], NM_020851.3:c.*508ATTT[4], NM_020851.3:c.*508ATTT[6], NM_020851.2:c.*508ATTT[3], NM_020851.2:c.*508ATTT[4], NM_020851.2:c.*508ATTT[6], XM_024450005.2:c.*508ATTT[3], XM_024450005.2:c.*508ATTT[4], XM_024450005.2:c.*508ATTT[6], XM_011521841.2:c.*508ATTT[3], XM_011521841.2:c.*508ATTT[4], XM_011521841.2:c.*508ATTT[6], XM_011521841.1:c.*508ATTT[3], XM_011521841.1:c.*508ATTT[4], XM_011521841.1:c.*508ATTT[6], XM_024450003.2:c.*508ATTT[3], XM_024450003.2:c.*508ATTT[4], XM_024450003.2:c.*508ATTT[6], XM_024450004.2:c.*508ATTT[3], XM_024450004.2:c.*508ATTT[4], XM_024450004.2:c.*508ATTT[6], XM_024450006.2:c.*508ATTT[3], XM_024450006.2:c.*508ATTT[4], XM_024450006.2:c.*508ATTT[6], XM_024450007.2:c.*508ATTT[3], XM_024450007.2:c.*508ATTT[4], XM_024450007.2:c.*508ATTT[6], NM_001130138.2:c.*508ATTT[3], NM_001130138.2:c.*508ATTT[4], NM_001130138.2:c.*508ATTT[6], NM_001130138.1:c.*508ATTT[3], NM_001130138.1:c.*508ATTT[4], NM_001130138.1:c.*508ATTT[6], XM_024450008.2:c.*508ATTT[3], XM_024450008.2:c.*508ATTT[4], XM_024450008.2:c.*508ATTT[6], NM_001130136.1:c.*508ATTT[3], NM_001130136.1:c.*508ATTT[4], NM_001130136.1:c.*508ATTT[6], NM_001130137.1:c.*508ATTT[3], NM_001130137.1:c.*508ATTT[4], NM_001130137.1:c.*508ATTT[6], XM_047432905.1:c.*508ATTT[3], XM_047432905.1:c.*508ATTT[4], XM_047432905.1:c.*508ATTT[6]

Select item 149008280911.

rs1490082809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74133031 (GRCh38)
15:74425372 (GRCh37)
Canonical SPDI:: NC_000015.10:74133030:G:A
Gene:: ISLR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000015.10:g.74133031G>A, NC_000015.9:g.74425372G>A, XM_011521840.4:c.277G>A, XM_011521840.3:c.277G>A, XM_011521840.2:c.277G>A, XM_011521840.1:c.277G>A, XR_931875.4:n.463G>A, XR_931875.3:n.615G>A, XR_931875.2:n.717G>A, XR_931875.1:n.395G>A, NM_020851.3:c.277G>A, NM_020851.2:c.277G>A, XM_017022446.3:c.277G>A, XM_017022446.2:c.277G>A, XM_017022446.1:c.277G>A, XM_024450005.2:c.277G>A, XM_024450005.1:c.277G>A, XM_011521841.2:c.277G>A, XM_011521841.1:c.277G>A, XM_024450003.2:c.277G>A, XM_024450003.1:c.277G>A, XM_024450004.2:c.277G>A, XM_024450004.1:c.277G>A, XM_024450006.2:c.277G>A, XM_024450006.1:c.277G>A, XM_024450007.2:c.277G>A, XM_024450007.1:c.277G>A, NM_001130138.2:c.277G>A, NM_001130138.1:c.277G>A, XM_024450008.2:c.277G>A, XM_024450008.1:c.277G>A, NM_001130136.1:c.277G>A, NM_001130137.1:c.277G>A, XM_047432905.1:c.277G>A, XP_011520142.1:p.Gly93Ser, NP_065902.1:p.Gly93Ser, XP_016877935.1:p.Gly93Ser, XP_024305773.1:p.Gly93Ser, XP_011520143.1:p.Gly93Ser, XP_024305771.1:p.Gly93Ser, XP_024305772.1:p.Gly93Ser, XP_024305774.1:p.Gly93Ser, XP_024305775.1:p.Gly93Ser, NP_001123610.1:p.Gly93Ser, XP_024305776.1:p.Gly93Ser, NP_001123608.1:p.Gly93Ser, NP_001123609.1:p.Gly93Ser, XP_047288861.1:p.Gly93Ser

Select item 148981175012.

rs1489811750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:74129241 (GRCh38)
15:74421582 (GRCh37)
Canonical SPDI:: NC_000015.10:74129240:A:C
Gene:: ISLR2 (Varview), LOC283731 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.74129241A>C, NC_000015.9:g.74421582A>C, NR_027073.1:n.38T>G, NR_152622.1:n.38T>G

Select item 148968713213.

rs1489687132 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 15:74136063 (GRCh38)
15:74428405 (GRCh37)
Canonical SPDI:: NC_000015.10:74136063:GTGTGTGTGT:GTGTGTGTGTGT
Gene:: ISLR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
GT=0.000007/1 (GnomAD)
GT=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.74136064GT[6], NC_000015.9:g.74428405GT[6], XM_011521840.4:c.*1072GT[6], XM_011521840.3:c.*1072GT[6], XM_011521840.2:c.*1072GT[6], XM_011521840.1:c.*1072GT[6], NM_020851.3:c.*1072GT[6], NM_020851.2:c.*1072GT[6], XM_024450005.2:c.*1072GT[6], XM_011521841.2:c.*1072GT[6], XM_011521841.1:c.*1072GT[6], XM_024450003.2:c.*1072GT[6], XM_024450004.2:c.*1072GT[6], XM_024450006.2:c.*1072GT[6], XM_024450007.2:c.*1072GT[6], NM_001130138.2:c.*1072GT[6], NM_001130138.1:c.*1072GT[6], XM_024450008.2:c.*1072GT[6], NM_001130136.1:c.*1072GT[6], NM_001130137.1:c.*1072GT[6], XM_047432905.1:c.*1072GT[6]

Select item 148939271414.

rs1489392714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74138142 (GRCh38)
15:74430483 (GRCh37)
Canonical SPDI:: NC_000015.10:74138141:G:A
Gene:: ISLR2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.74138142G>A, NC_000015.9:g.74430483G>A

Select item 148906370815.

rs1489063708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74135103 (GRCh38)
15:74427444 (GRCh37)
Canonical SPDI:: NC_000015.10:74135102:T:C
Gene:: ISLR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,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_000015.10:g.74135103T>C, NC_000015.9:g.74427444T>C, XM_011521840.4:c.*111T>C, XM_011521840.3:c.*111T>C, XM_011521840.2:c.*111T>C, XM_011521840.1:c.*111T>C, NM_020851.3:c.*111T>C, NM_020851.2:c.*111T>C, XM_024450005.2:c.*111T>C, XM_024450005.1:c.*111T>C, XM_011521841.2:c.*111T>C, XM_011521841.1:c.*111T>C, XM_024450003.2:c.*111T>C, XM_024450003.1:c.*111T>C, XM_024450004.2:c.*111T>C, XM_024450004.1:c.*111T>C, XM_024450006.2:c.*111T>C, XM_024450006.1:c.*111T>C, XM_024450007.2:c.*111T>C, XM_024450007.1:c.*111T>C, NM_001130138.2:c.*111T>C, NM_001130138.1:c.*111T>C, XM_024450008.2:c.*111T>C, XM_024450008.1:c.*111T>C, NM_001130136.1:c.*111T>C, NM_001130137.1:c.*111T>C, XM_047432905.1:c.*111T>C

Select item 148899985116.

rs1488999851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74138821 (GRCh38)
15:74431162 (GRCh37)
Canonical SPDI:: NC_000015.10:74138820:T:C
Gene:: ISLR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000106/2 (TOMMO)
HGVS:: NC_000015.10:g.74138821T>C, NC_000015.9:g.74431162T>C, XM_017022446.3:c.*496T>C, XM_017022446.2:c.*496T>C, XM_017022446.1:c.*496T>C

Select item 148892968117.

rs1488929681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:74131181 (GRCh38)
15:74423522 (GRCh37)
Canonical SPDI:: NC_000015.10:74131180:C:A
Gene:: ISLR2 (Varview), LOC283731 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000015.10:g.74131181C>A, NC_000015.9:g.74423522C>A

Select item 148884924718.

rs1488849247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74134048 (GRCh38)
15:74426389 (GRCh37)
Canonical SPDI:: NC_000015.10:74134047:G:A
Gene:: ISLR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000015.10:g.74134048G>A, NC_000015.9:g.74426389G>A, XM_011521840.4:c.1294G>A, XM_011521840.3:c.1294G>A, XM_011521840.2:c.1294G>A, XM_011521840.1:c.1294G>A, XR_931875.4:n.1480G>A, XR_931875.3:n.1632G>A, XR_931875.2:n.1734G>A, XR_931875.1:n.1412G>A, NM_020851.3:c.1294G>A, NM_020851.2:c.1294G>A, XM_017022446.3:c.1294G>A, XM_017022446.2:c.1294G>A, XM_017022446.1:c.1294G>A, XM_024450005.2:c.1294G>A, XM_024450005.1:c.1294G>A, XM_011521841.2:c.1294G>A, XM_011521841.1:c.1294G>A, XM_024450003.2:c.1294G>A, XM_024450003.1:c.1294G>A, XM_024450004.2:c.1294G>A, XM_024450004.1:c.1294G>A, XM_024450006.2:c.1294G>A, XM_024450006.1:c.1294G>A, XM_024450007.2:c.1294G>A, XM_024450007.1:c.1294G>A, NM_001130138.2:c.1294G>A, NM_001130138.1:c.1294G>A, XM_024450008.2:c.1294G>A, XM_024450008.1:c.1294G>A, NM_001130136.1:c.1294G>A, NM_001130137.1:c.1294G>A, XM_047432905.1:c.1294G>A, XP_011520142.1:p.Glu432Lys, NP_065902.1:p.Glu432Lys, XP_016877935.1:p.Glu432Lys, XP_024305773.1:p.Glu432Lys, XP_011520143.1:p.Glu432Lys, XP_024305771.1:p.Glu432Lys, XP_024305772.1:p.Glu432Lys, XP_024305774.1:p.Glu432Lys, XP_024305775.1:p.Glu432Lys, NP_001123610.1:p.Glu432Lys, XP_024305776.1:p.Glu432Lys, NP_001123608.1:p.Glu432Lys, NP_001123609.1:p.Glu432Lys, XP_047288861.1:p.Glu432Lys

Select item 148868421119.

rs1488684211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74130816 (GRCh38)
15:74423157 (GRCh37)
Canonical SPDI:: NC_000015.10:74130815:T:C
Gene:: ISLR2 (Varview), LOC283731 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.74130816T>C, NC_000015.9:g.74423157T>C, XM_024450005.2:c.-400T>C, XM_024450005.1:c.-400T>C

Select item 148868377120.

rs1488683771 has merged into rs1254116573 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,GGG,GGGGG [Show Flanks]
Chromosome:: 15:74130213 (GRCh38)
15:74422554 (GRCh37)
Canonical SPDI:: NC_000015.10:74130209:GGGGGGG:GGG,NC_000015.10:74130209:GGGGGGG:GGGGGG,NC_000015.10:74130209:GGGGGGG:GGGGGGGG
Gene:: ISLR2 (Varview), LOC283731 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000015.10:g.74130213_74130216del, NC_000015.10:g.74130216del, NC_000015.10:g.74130216dup, NC_000015.9:g.74422554_74422557del, NC_000015.9:g.74422557del, NC_000015.9:g.74422557dup

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