SNP Links for Gene (Select 724030) - SNP

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Select item 14862723961.

rs1486272396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:50013820 (GRCh38)
X:49778428 (GRCh37)
Canonical SPDI:: NC_000023.11:50013819:C:T
Gene:: CLCN5 (Varview), MIR502 (Varview), MIR660 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.50013820C>T, NW_004070880.2:g.2203249C>T, NG_007159.3:g.96205C>T, NC_000023.10:g.49778428C>T

Select item 14856089562.

rs1485608956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:50011319 (GRCh38)
X:49775927 (GRCh37)
Canonical SPDI:: NC_000023.11:50011318:G:A
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.50011319G>A, NW_004070880.2:g.2200748G>A, NG_007159.3:g.93704G>A, NC_000023.10:g.49775927G>A

Select item 14833212603.

rs1483321260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:50012016 (GRCh38)
X:49776624 (GRCh37)
Canonical SPDI:: NC_000023.11:50012015:G:A
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.50012016G>A, NW_004070880.2:g.2201445G>A, NG_007159.3:g.94401G>A, NC_000023.10:g.49776624G>A

Select item 14832458764.

rs1483245876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:50013510 (GRCh38)
X:49778118 (GRCh37)
Canonical SPDI:: NC_000023.11:50013509:T:C
Gene:: CLCN5 (Varview), MIR502 (Varview), MIR660 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.50013510T>C, NW_004070880.2:g.2202939T>C, NG_007159.3:g.95895T>C, NC_000023.10:g.49778118T>C

Select item 14823366555.

rs1482336655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:50012730 (GRCh38)
X:49777338 (GRCh37)
Canonical SPDI:: NC_000023.11:50012729:C:T
Gene:: CLCN5 (Varview), MIR502 (Varview), MIR660 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.50012730C>T, NW_004070880.2:g.2202159C>T, NG_007159.3:g.95115C>T, NC_000023.10:g.49777338C>T

Select item 14782440796.

rs1478244079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:50011285 (GRCh38)
X:49775893 (GRCh37)
Canonical SPDI:: NC_000023.11:50011284:G:T
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00006/16 (TOPMED)
T=0.000086/9 (GnomAD)
HGVS:: NC_000023.11:g.50011285G>T, NW_004070880.2:g.2200714G>T, NG_007159.3:g.93670G>T, NC_000023.10:g.49775893G>T

Select item 14749293137.

rs1474929313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:50011414 (GRCh38)
X:49776022 (GRCh37)
Canonical SPDI:: NC_000023.11:50011413:A:C
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000038/10 (TOPMED)
C=0.000057/6 (GnomAD)
HGVS:: NC_000023.11:g.50011414A>C, NW_004070880.2:g.2200843A>C, NG_007159.3:g.93799A>C, NC_000023.10:g.49776022A>C

Select item 14733205088.

rs1473320508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:50013183 (GRCh38)
X:49777791 (GRCh37)
Canonical SPDI:: NC_000023.11:50013182:C:T
Gene:: CLCN5 (Varview), MIR502 (Varview), MIR660 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.50013183C>T, NW_004070880.2:g.2202612C>T, NG_007159.3:g.95568C>T, NC_000023.10:g.49777791C>T

Select item 14727347839.

rs1472734783 has merged into rs1236257325 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>-,TC [Show Flanks]
Chromosome:: X:50013139 (GRCh38)
X:49777747 (GRCh37)
Canonical SPDI:: NC_000023.11:50013132:TCTCTCTCTC:TCTCTC,NC_000023.11:50013132:TCTCTCTCTC:TCTCTCTC
Gene:: CLCN5 (Varview), MIR502 (Varview), MIR660 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTC=0./0 (ALFA)
-=0.000088/9 (GnomAD)
HGVS:: NC_000023.11:g.50013133TC[3], NC_000023.11:g.50013133TC[4], NW_004070880.2:g.2202562TC[3], NW_004070880.2:g.2202562TC[4], NG_007159.3:g.95518TC[3], NG_007159.3:g.95518TC[4], NC_000023.10:g.49777741TC[3], NC_000023.10:g.49777741TC[4]

Select item 147264273210.

rs1472642732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:50012180 (GRCh38)
X:49776788 (GRCh37)
Canonical SPDI:: NC_000023.11:50012179:C:T
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.50012180C>T, NW_004070880.2:g.2201609C>T, NG_007159.3:g.94565C>T, NC_000023.10:g.49776788C>T

Select item 146884068511.

rs1468840685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:50011395 (GRCh38)
X:49776003 (GRCh37)
Canonical SPDI:: NC_000023.11:50011394:G:A
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.50011395G>A, NW_004070880.2:g.2200824G>A, NG_007159.3:g.93780G>A, NC_000023.10:g.49776003G>A

Select item 146688989512.

rs1466889895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:50011863 (GRCh38)
X:49776471 (GRCh37)
Canonical SPDI:: NC_000023.11:50011862:G:A
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.50011863G>A, NW_004070880.2:g.2201292G>A, NG_007159.3:g.94248G>A, NC_000023.10:g.49776471G>A

Select item 146653858513.

rs1466538585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:50011694 (GRCh38)
X:49776302 (GRCh37)
Canonical SPDI:: NC_000023.11:50011693:C:G,NC_000023.11:50011693:C:T
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000153/16 (GnomAD)
HGVS:: NC_000023.11:g.50011694C>G, NC_000023.11:g.50011694C>T, NW_004070880.2:g.2201123C>G, NW_004070880.2:g.2201123C>T, NG_007159.3:g.94079C>G, NG_007159.3:g.94079C>T, NC_000023.10:g.49776302C>G, NC_000023.10:g.49776302C>T

Select item 146548286814.

rs1465482868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:50012527 (GRCh38)
X:49777135 (GRCh37)
Canonical SPDI:: NC_000023.11:50012526:G:A
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.50012527G>A, NW_004070880.2:g.2201956G>A, NG_007159.3:g.94912G>A, NC_000023.10:g.49777135G>A

Select item 146486931215.

rs1464869312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:50013576 (GRCh38)
X:49778184 (GRCh37)
Canonical SPDI:: NC_000023.11:50013575:A:G
Gene:: CLCN5 (Varview), MIR502 (Varview), MIR660 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.50013576A>G, NW_004070880.2:g.2203005A>G, NG_007159.3:g.95961A>G, NC_000023.10:g.49778184A>G

Select item 146458183816.

rs1464581838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:50013802 (GRCh38)
X:49778410 (GRCh37)
Canonical SPDI:: NC_000023.11:50013801:C:A,NC_000023.11:50013801:C:G
Gene:: CLCN5 (Varview), MIR502 (Varview), MIR660 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.50013802C>A, NC_000023.11:g.50013802C>G, NW_004070880.2:g.2203231C>A, NW_004070880.2:g.2203231C>G, NG_007159.3:g.96187C>A, NG_007159.3:g.96187C>G, NC_000023.10:g.49778410C>A, NC_000023.10:g.49778410C>G

Select item 146098327417.

rs1460983274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:50011670 (GRCh38)
X:49776278 (GRCh37)
Canonical SPDI:: NC_000023.11:50011669:G:A
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.50011670G>A, NW_004070880.2:g.2201099G>A, NG_007159.3:g.94055G>A, NC_000023.10:g.49776278G>A

Select item 145901420318.

rs1459014203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:50012508 (GRCh38)
X:49777116 (GRCh37)
Canonical SPDI:: NC_000023.11:50012507:C:T
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.50012508C>T, NW_004070880.2:g.2201937C>T, NG_007159.3:g.94893C>T, NC_000023.10:g.49777116C>T

Select item 145863818119.

rs1458638181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:50011657 (GRCh38)
X:49776265 (GRCh37)
Canonical SPDI:: NC_000023.11:50011656:G:A
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.50011657G>A, NW_004070880.2:g.2201086G>A, NG_007159.3:g.94042G>A, NC_000023.10:g.49776265G>A

Select item 145730330120.

rs1457303301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:50012291 (GRCh38)
X:49776899 (GRCh37)
Canonical SPDI:: NC_000023.11:50012290:C:A,NC_000023.11:50012290:C:T
Gene:: CLCN5 (Varview), MIR660 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.50012291C>A, NC_000023.11:g.50012291C>T, NW_004070880.2:g.2201720C>A, NW_004070880.2:g.2201720C>T, NG_007159.3:g.94676C>A, NG_007159.3:g.94676C>T, NC_000023.10:g.49776899C>A, NC_000023.10:g.49776899C>T

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