SNP Links for Gene (Select 203547) - SNP

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Select item 14910409981.

rs1491040998 has merged into rs34263160 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: X:151398193 (GRCh38)
X:150566665 (GRCh37)
Canonical SPDI:: NC_000023.11:151398181:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:151398181:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:151398181:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:151398181:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:151398181:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:151398181:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:151398181:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:151398181:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:151398181:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: VMA21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.059073/223 (1000Genomes)
HGVS:: NC_000023.11:g.151398193_151398199del, NC_000023.11:g.151398195_151398199del, NC_000023.11:g.151398196_151398199del, NC_000023.11:g.151398198_151398199del, NC_000023.11:g.151398199del, NC_000023.11:g.151398199dup, NC_000023.11:g.151398198_151398199dup, NC_000023.11:g.151398197_151398199dup, NC_000023.11:g.151398195_151398199dup, NC_000023.10:g.150566665_150566671del, NC_000023.10:g.150566667_150566671del, NC_000023.10:g.150566668_150566671del, NC_000023.10:g.150566670_150566671del, NC_000023.10:g.150566671del, NC_000023.10:g.150566671dup, NC_000023.10:g.150566670_150566671dup, NC_000023.10:g.150566669_150566671dup, NC_000023.10:g.150566667_150566671dup, NG_016761.1:g.6009_6015del, NG_016761.1:g.6011_6015del, NG_016761.1:g.6012_6015del, NG_016761.1:g.6014_6015del, NG_016761.1:g.6015del, NG_016761.1:g.6015dup, NG_016761.1:g.6014_6015dup, NG_016761.1:g.6013_6015dup, NG_016761.1:g.6011_6015dup

Select item 14909753402.

rs1490975340 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: X:151397856 (GRCh38)
X:150566328 (GRCh37)
Canonical SPDI:: NC_000023.11:151397850:GAGAGAG:GAGAG
Gene:: VMA21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAGAG=0./0 (ALFA)
HGVS:: NC_000023.11:g.151397852AG[2], NC_000023.10:g.150566324AG[2], NG_016761.1:g.5668AG[2]

Select item 14909178973.

rs1490917897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:151397076 (GRCh38)
X:150565548 (GRCh37)
Canonical SPDI:: NC_000023.11:151397075:C:T
Gene:: VMA21 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.151397076C>T, NC_000023.10:g.150565548C>T, NG_016761.1:g.4892C>T

Select item 14907001574.

rs1490700157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:151408698 (GRCh38)
X:150577170 (GRCh37)
Canonical SPDI:: NC_000023.11:151408697:A:T
Gene:: VMA21 (Varview)
Functional Consequence:: 3_prime_UTR_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.151408698A>T, NC_000023.10:g.150577170A>T, NG_016761.1:g.16514A>T, NM_001017980.4:c.*3640A>T, NM_001017980.3:c.*3640A>T, NM_001363810.1:c.*3640A>T

Select item 14905305985.

rs1490530598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:151407999 (GRCh38)
X:150576471 (GRCh37)
Canonical SPDI:: NC_000023.11:151407998:C:T
Gene:: VMA21 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.151407999C>T, NC_000023.10:g.150576471C>T, NG_016761.1:g.15815C>T, NM_001017980.4:c.*2941C>T, NM_001017980.3:c.*2941C>T, NM_001363810.1:c.*2941C>T

Select item 14900491806.

rs1490049180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:151397073 (GRCh38)
X:150565545 (GRCh37)
Canonical SPDI:: NC_000023.11:151397072:G:A
Gene:: VMA21 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000059/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.151397073G>A, NC_000023.10:g.150565545G>A, NG_016761.1:g.4889G>A

Select item 14897649927.

rs1489764992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:151399698 (GRCh38)
X:150568170 (GRCh37)
Canonical SPDI:: NC_000023.11:151399697:G:T
Gene:: VMA21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.151399698G>T, NC_000023.10:g.150568170G>T, NG_016761.1:g.7514G>T

Select item 14895455398.

rs1489545539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:151401880 (GRCh38)
X:150570352 (GRCh37)
Canonical SPDI:: NC_000023.11:151401879:G:C
Gene:: VMA21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.151401880G>C, NC_000023.10:g.150570352G>C, NG_016761.1:g.9696G>C

Select item 14889117539.

rs1488911753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:151398170 (GRCh38)
X:150566642 (GRCh37)
Canonical SPDI:: NC_000023.11:151398169:G:C
Gene:: VMA21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000031/3 (GnomAD)
HGVS:: NC_000023.11:g.151398170G>C, NC_000023.10:g.150566642G>C, NG_016761.1:g.5986G>C

Select item 148889262110.

rs1488892621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:151406585 (GRCh38)
X:150575057 (GRCh37)
Canonical SPDI:: NC_000023.11:151406584:T:A
Gene:: VMA21 (Varview)
Functional Consequence:: 3_prime_UTR_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.151406585T>A, NC_000023.10:g.150575057T>A, NG_016761.1:g.14401T>A, NM_001017980.4:c.*1527T>A, NM_001017980.3:c.*1527T>A, NM_001363810.1:c.*1527T>A

Select item 148867642911.

rs1488676429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:151396927 (GRCh38)
X:150565399 (GRCh37)
Canonical SPDI:: NC_000023.11:151396926:C:T
Gene:: VMA21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.151396927C>T, NC_000023.10:g.150565399C>T, NG_016761.1:g.4743C>T, NM_001363810.1:c.88C>T, NP_001350739.1:p.Arg30Cys

Select item 148860688712.

rs1488606887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:151395978 (GRCh38)
X:150564450 (GRCh37)
Canonical SPDI:: NC_000023.11:151395977:C:T
Gene:: VMA21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.151395978C>T, NC_000023.10:g.150564450C>T, NG_016761.1:g.3794C>T

Select item 148857572713.

rs1488575727 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGGC>- [Show Flanks]
Chromosome:: X:151397031 (GRCh38)
X:150565503 (GRCh37)
Canonical SPDI:: NC_000023.11:151397027:GGCAGGGC:GGC
Gene:: VMA21 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,frameshift_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGC=0./0 (ALFA)
-=0.000012/1 (GnomAD_exomes)
-=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.151397031_151397035del, NC_000023.10:g.150565503_150565507del, NG_016761.1:g.4847_4851del, NM_001363810.1:c.192_196del, NP_001350739.1:p.Gly65fs

Select item 148827255014.

rs1488272550 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: X:151408928 (GRCh38)
X:150577400 (GRCh37)
Canonical SPDI:: NC_000023.11:151408927:CC:C
Gene:: VMA21 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000029/3 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.151408929del, NC_000023.10:g.150577401del, NG_016761.1:g.16745del, NM_001017980.4:c.*3871del, NM_001017980.3:c.*3871del, NM_001363810.1:c.*3871del

Select item 148825530415.

rs1488255304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:151396131 (GRCh38)
X:150564603 (GRCh37)
Canonical SPDI:: NC_000023.11:151396130:C:T
Gene:: VMA21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.151396131C>T, NC_000023.10:g.150564603C>T, NG_016761.1:g.3947C>T

Select item 148726915816.

rs1487269158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:151397115 (GRCh38)
X:150565587 (GRCh37)
Canonical SPDI:: NC_000023.11:151397114:G:A,NC_000023.11:151397114:G:C
Gene:: VMA21 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.151397115G>A, NC_000023.11:g.151397115G>C, NC_000023.10:g.150565587G>A, NC_000023.10:g.150565587G>C, NG_016761.1:g.4931G>A, NG_016761.1:g.4931G>C

Select item 148717200217.

rs1487172002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:151407744 (GRCh38)
X:150576216 (GRCh37)
Canonical SPDI:: NC_000023.11:151407743:T:C
Gene:: VMA21 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000023.11:g.151407744T>C, NC_000023.10:g.150576216T>C, NG_016761.1:g.15560T>C, NM_001017980.4:c.*2686T>C, NM_001017980.3:c.*2686T>C, NM_001363810.1:c.*2686T>C

Select item 148701312118.

rs1487013121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:151407422 (GRCh38)
X:150575894 (GRCh37)
Canonical SPDI:: NC_000023.11:151407421:T:C
Gene:: VMA21 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.151407422T>C, NC_000023.10:g.150575894T>C, NG_016761.1:g.15238T>C, NM_001017980.4:c.*2364T>C, NM_001017980.3:c.*2364T>C, NM_001363810.1:c.*2364T>C

Select item 148676558319.

rs1486765583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:151404093 (GRCh38)
X:150572565 (GRCh37)
Canonical SPDI:: NC_000023.11:151404092:G:T
Gene:: VMA21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00652/19 (KOREAN)
HGVS:: NC_000023.11:g.151404093G>T, NC_000023.10:g.150572565G>T, NG_016761.1:g.11909G>T

Select item 148628147220.

rs1486281472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:151394623 (GRCh38)
X:150563095 (GRCh37)
Canonical SPDI:: NC_000023.11:151394622:G:A,NC_000023.11:151394622:G:T
Gene:: VMA21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.151394623G>A, NC_000023.11:g.151394623G>T, NC_000023.10:g.150563095G>A, NC_000023.10:g.150563095G>T, NG_016761.1:g.2439G>A, NG_016761.1:g.2439G>T

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