SNP Links for Nucleotide (Select 262205365) - SNP

Select item 14475966301.

rs1447596630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:134169823 (GRCh38)
X:133303853 (GRCh37)
Canonical SPDI:: NC_000023.11:134169822:C:A,NC_000023.11:134169822:C:G
Gene:: MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.134169823C>A, NC_000023.11:g.134169823C>G, NC_000023.10:g.133303853C>A, NC_000023.10:g.133303853C>G, XR_007068340.1:n.2950G>T, XR_007068340.1:n.2950G>C, NR_029950.1:n.55G>T, NR_029950.1:n.55G>C

Select item 14305897872.

rs1430589787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:134169838 (GRCh38)
X:133303868 (GRCh37)
Canonical SPDI:: NC_000023.11:134169837:G:T
Gene:: MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.134169838G>T, NC_000023.10:g.133303868G>T, XR_007068340.1:n.2935C>A, NR_029950.1:n.40C>A

Select item 13905929893.

rs1390592989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:134169835 (GRCh38)
X:133303865 (GRCh37)
Canonical SPDI:: NC_000023.11:134169834:A:C
Gene:: MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.134169835A>C, NC_000023.10:g.133303865A>C, XR_007068340.1:n.2938T>G, NR_029950.1:n.43T>G

Select item 7681309474.

rs768130947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:134169810 (GRCh38)
X:133303840 (GRCh37)
Canonical SPDI:: NC_000023.11:134169809:G:A
Gene:: MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (ALSPAC)
A=0.0003/1 (TWINSUK)
HGVS:: NC_000023.11:g.134169810G>A, NC_000023.10:g.133303840G>A, XR_007068340.1:n.2963C>T, NR_029950.1:n.68C>T

Select item 7673469185.

rs767346918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:134169866 (GRCh38)
X:133303896 (GRCh37)
Canonical SPDI:: NC_000023.11:134169865:C:T
Gene:: MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/2 (GnomAD)
T=0.000028/5 (GnomAD_exomes)
T=0.000042/11 (TOPMED)
T=0.000046/4 (ExAC)
T=0.000624/2 (1000Genomes)
HGVS:: NC_000023.11:g.134169866C>T, NC_000023.10:g.133303896C>T, XR_007068340.1:n.2907G>A, NR_029950.1:n.12G>A

Select item 7662207846.

rs766220784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:134169828 (GRCh38)
X:133303858 (GRCh37)
Canonical SPDI:: NC_000023.11:134169827:C:G
Gene:: MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000039/7 (GnomAD_exomes)
G=0.000058/5 (ExAC)
HGVS:: NC_000023.11:g.134169828C>G, NC_000023.10:g.133303858C>G, XR_007068340.1:n.2945G>C, NR_029950.1:n.50G>C

Select item 7560434497.

rs756043449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:134169822 (GRCh38)
X:133303852 (GRCh37)
Canonical SPDI:: NC_000023.11:134169821:C:G,NC_000023.11:134169821:C:T
Gene:: MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
T=0.000012/1 (ExAC)
HGVS:: NC_000023.11:g.134169822C>G, NC_000023.11:g.134169822C>T, NC_000023.10:g.133303852C>G, NC_000023.10:g.133303852C>T, XR_007068340.1:n.2951G>C, XR_007068340.1:n.2951G>A, NR_029950.1:n.56G>C, NR_029950.1:n.56G>A

Select item 7546565128.

rs754656512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:134169862 (GRCh38)
X:133303892 (GRCh37)
Canonical SPDI:: NC_000023.11:134169861:T:C
Gene:: MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/2 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000023/2 (ExAC)
HGVS:: NC_000023.11:g.134169862T>C, NC_000023.10:g.133303892T>C, XR_007068340.1:n.2911A>G, NR_029950.1:n.16A>G

Select item 7535606139.

rs753560613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:134169855 (GRCh38)
X:133303885 (GRCh37)
Canonical SPDI:: NC_000023.11:134169854:T:C
Gene:: MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000012/1 (ExAC)
C=0.000019/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.134169855T>C, NC_000023.10:g.133303885T>C, XR_007068340.1:n.2918A>G, NR_029950.1:n.23A>G

Select item 75041609210.

rs750416092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:134169812 (GRCh38)
X:133303842 (GRCh37)
Canonical SPDI:: NC_000023.11:134169811:A:C
Gene:: MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
C=0.000012/1 (ExAC)
HGVS:: NC_000023.11:g.134169812A>C, NC_000023.10:g.133303842A>C, XR_007068340.1:n.2961T>G, NR_029950.1:n.66T>G

Select item 74772921911.

rs747729219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:134169867 (GRCh38)
X:133303897 (GRCh37)
Canonical SPDI:: NC_000023.11:134169866:A:G
Gene:: MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
G=0.000012/1 (ExAC)
HGVS:: NC_000023.11:g.134169867A>G, NC_000023.10:g.133303897A>G, XR_007068340.1:n.2906T>C, NR_029950.1:n.11T>C

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