SNP Links for Gene (Select 574511) - SNP

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Select item 14883870111.

rs1488387011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:147231895 (GRCh38)
X:146313413 (GRCh37)
Canonical SPDI:: NC_000023.11:147231894:T:C
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.147231895T>C, NC_000023.10:g.146313413T>C, NW_004070890.2:g.2756286T>C

Select item 14874311552.

rs1487431155 has merged into rs781993670 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: X:147232537 (GRCh38)
X:146314055 (GRCh37)
Canonical SPDI:: NC_000023.11:147232529:AAAAAAAAA:AAAAAAA,NC_000023.11:147232529:AAAAAAAAA:AAAAAAAA,NC_000023.11:147232529:AAAAAAAAA:AAAAAAAAAA
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.00005/1 (TOMMO)
-=0.00159/6 (1000Genomes)
HGVS:: NC_000023.11:g.147232537_147232538del, NC_000023.11:g.147232538del, NC_000023.11:g.147232538dup, NC_000023.10:g.146314055_146314056del, NC_000023.10:g.146314056del, NC_000023.10:g.146314056dup, NW_004070890.2:g.2756928_2756929del, NW_004070890.2:g.2756929del, NW_004070890.2:g.2756929dup

Select item 14874025163.

rs1487402516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:147231419 (GRCh38)
X:146312937 (GRCh37)
Canonical SPDI:: NC_000023.11:147231418:C:A
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.147231419C>A, NC_000023.10:g.146312937C>A, NW_004070890.2:g.2755810C>A

Select item 14864155954.

rs1486415595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:147230929 (GRCh38)
X:146312447 (GRCh37)
Canonical SPDI:: NC_000023.11:147230928:T:A
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.147230929T>A, NC_000023.10:g.146312447T>A, NW_004070890.2:g.2755320T>A

Select item 14858620355.

rs1485862035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:147230920 (GRCh38)
X:146312438 (GRCh37)
Canonical SPDI:: NC_000023.11:147230919:C:A,NC_000023.11:147230919:C:T
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/2 (GnomAD)
T=0.00135/17 (TOMMO)
T=0.002397/7 (KOREAN)
HGVS:: NC_000023.11:g.147230920C>A, NC_000023.11:g.147230920C>T, NC_000023.10:g.146312438C>A, NC_000023.10:g.146312438C>T, NW_004070890.2:g.2755311C>A, NW_004070890.2:g.2755311C>T

Select item 14854368836.

rs1485436883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:147230362 (GRCh38)
X:146311880 (GRCh37)
Canonical SPDI:: NC_000023.11:147230361:A:T
Gene:: MIR506 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.147230362A>T, NC_000023.10:g.146311880A>T, NW_004070890.2:g.2754753A>T

Select item 14840695257.

rs1484069525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:147232053 (GRCh38)
X:146313571 (GRCh37)
Canonical SPDI:: NC_000023.11:147232052:T:C
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.147232053T>C, NC_000023.10:g.146313571T>C, NW_004070890.2:g.2756444T>C

Select item 14821401468.

rs1482140146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:147232169 (GRCh38)
X:146313687 (GRCh37)
Canonical SPDI:: NC_000023.11:147232168:A:G
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000064/17 (TOPMED)
HGVS:: NC_000023.11:g.147232169A>G, NC_000023.10:g.146313687A>G, NW_004070890.2:g.2756560A>G

Select item 14792909089.

rs1479290908 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:147232838 (GRCh38)
X:146314356 (GRCh37)
Canonical SPDI:: NC_000023.11:147232837:A:C
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.147232838A>C, NC_000023.10:g.146314356A>C, NW_004070890.2:g.2757229A>C

Select item 147882934010.

rs1478829340 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:147232528 (GRCh38)
X:146314047 (GRCh37)
Canonical SPDI:: NC_000023.11:147232528:T:TT
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.147232529dup, NC_000023.10:g.146314047dup, NW_004070890.2:g.2756920dup

Select item 147784703211.

rs1477847032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:147232021 (GRCh38)
X:146313539 (GRCh37)
Canonical SPDI:: NC_000023.11:147232020:A:C
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.147232021A>C, NC_000023.10:g.146313539A>C, NW_004070890.2:g.2756412A>C

Select item 147693567812.

rs1476935678 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:147232624 (GRCh38)
X:146314143 (GRCh37)
Canonical SPDI:: NC_000023.11:147232624:AAAAA:AAAAAA
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.147232629dup, NC_000023.10:g.146314147dup, NW_004070890.2:g.2757020dup

Select item 147686205313.

rs1476862053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:147231516 (GRCh38)
X:146313034 (GRCh37)
Canonical SPDI:: NC_000023.11:147231515:G:A
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (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 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.147231516G>A, NC_000023.10:g.146313034G>A, NW_004070890.2:g.2755907G>A

Select item 147628787614.

rs1476287876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:147230313 (GRCh38)
X:146311831 (GRCh37)
Canonical SPDI:: NC_000023.11:147230312:G:A
Gene:: MIR506 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.147230313G>A, NC_000023.10:g.146311831G>A, NW_004070890.2:g.2754704G>A

Select item 147494093515.

rs1474940935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:147230494 (GRCh38)
X:146312012 (GRCh37)
Canonical SPDI:: NC_000023.11:147230493:T:C
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.147230494T>C, NC_000023.10:g.146312012T>C, NW_004070890.2:g.2754885T>C

Select item 147256086716.

rs1472560867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:147231646 (GRCh38)
X:146313164 (GRCh37)
Canonical SPDI:: NC_000023.11:147231645:G:T
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.147231646G>T, NC_000023.10:g.146313164G>T, NW_004070890.2:g.2756037G>T

Select item 147059748117.

rs1470597481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:147230659 (GRCh38)
X:146312177 (GRCh37)
Canonical SPDI:: NC_000023.11:147230658:T:A
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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.147230659T>A, NC_000023.10:g.146312177T>A, NW_004070890.2:g.2755050T>A

Select item 147018133818.

rs1470181338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:147231783 (GRCh38)
X:146313301 (GRCh37)
Canonical SPDI:: NC_000023.11:147231782:T:C
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.147231783T>C, NC_000023.10:g.146313301T>C, NW_004070890.2:g.2756174T>C

Select item 146881547619.

rs1468815476 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: X:147231207 (GRCh38)
X:146312725 (GRCh37)
Canonical SPDI:: NC_000023.11:147231205:TAT:T
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.147231207_147231208del, NC_000023.10:g.146312725_146312726del, NW_004070890.2:g.2755598_2755599del

Select item 146747965820.

rs1467479658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:147230780 (GRCh38)
X:146312298 (GRCh37)
Canonical SPDI:: NC_000023.11:147230779:T:A
Gene:: MIR506 (Varview), MIR507 (Varview), LOC105373347 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.147230780T>A, NC_000023.10:g.146312298T>A, NW_004070890.2:g.2755171T>A, NR_030233.1:n.64A>T