SNP Links for Gene (Select 84904) - SNP

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Select item 14910041191.

rs1491004119 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:35661188 (GRCh38)
9:35661186 (GRCh37)
Canonical SPDI:: NC_000009.12:35661188:GG:GGG
Gene:: ARHGEF39 (Varview), CCDC107 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35661190dup, NC_000009.11:g.35661187dup, NG_033120.1:g.7901dup, NM_174923.3:c.*3dup, NM_174923.2:c.*3dup, NM_001195217.2:c.*407dup, NM_001195217.1:c.*407dup, NM_001195200.2:c.*3dup, NM_001195200.1:c.*3dup, NM_001195201.2:c.*286dup, NM_001195201.1:c.*286dup, NG_017041.1:g.1830dup, NM_032818.3:c.*798dup, NM_032818.2:c.*798dup

Select item 14904160012.

rs1490416001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:35663228 (GRCh38)
9:35663225 (GRCh37)
Canonical SPDI:: NC_000009.12:35663227:A:G
Gene:: ARHGEF39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.35663228A>G, NC_000009.11:g.35663225A>G, NG_033120.1:g.9939A>G

Select item 14898805523.

rs1489880552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35658586 (GRCh38)
9:35658583 (GRCh37)
Canonical SPDI:: NC_000009.12:35658585:C:T
Gene:: RMRP (Varview), CCDC107 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35658586C>T, NC_000009.11:g.35658583C>T, NG_033120.1:g.5297C>T, NM_174923.3:c.117C>T, NM_174923.2:c.117C>T, NM_001195217.2:c.117C>T, NM_001195217.1:c.117C>T, NM_001195200.2:c.117C>T, NM_001195200.1:c.117C>T, NM_001195201.2:c.117C>T, NM_001195201.1:c.117C>T, NG_017041.1:g.4433G>A, XM_005251403.6:c.117C>T, XM_005251403.5:c.117C>T, XM_005251403.4:c.117C>T, XM_005251403.3:c.117C>T, XM_005251403.2:c.117C>T, XM_005251403.1:c.117C>T

Select item 14897139314.

rs1489713931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35660175 (GRCh38)
9:35660172 (GRCh37)
Canonical SPDI:: NC_000009.12:35660174:G:A
Gene:: ARHGEF39 (Varview), CCDC107 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.35660175G>A, NC_000009.11:g.35660172G>A, NG_033120.1:g.6886G>A, NG_017041.1:g.2844C>T, NM_032818.3:c.*1812C>T, NM_032818.2:c.*1812C>T

Select item 14892667595.

rs1489266759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35659844 (GRCh38)
9:35659841 (GRCh37)
Canonical SPDI:: NC_000009.12:35659843:C:T
Gene:: RMRP (Varview), ARHGEF39 (Varview), CCDC107 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.35659844C>T, NC_000009.11:g.35659841C>T, NG_033120.1:g.6555C>T, NG_017041.1:g.3175G>A, NM_032818.3:c.*2143G>A, NM_032818.2:c.*2143G>A

Select item 14887903516.

rs1488790351 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:35662763 (GRCh38)
9:35662760 (GRCh37)
Canonical SPDI:: NC_000009.12:35662762:A:G
Gene:: ARHGEF39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35662763A>G, NC_000009.11:g.35662760A>G, NG_033120.1:g.9474A>G, NG_017041.1:g.256T>C

Select item 14885627887.

rs1488562788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:35663664 (GRCh38)
9:35663661 (GRCh37)
Canonical SPDI:: NC_000009.12:35663663:A:G
Gene:: ARHGEF39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.35663664A>G, NC_000009.11:g.35663661A>G

Select item 14884571778.

rs1488457177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:35665687 (GRCh38)
9:35665684 (GRCh37)
Canonical SPDI:: NC_000009.12:35665686:T:A
Gene:: ARHGEF39 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35665687T>A, NC_000009.11:g.35665684T>A

Select item 14882589749.

rs1488258974 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:35665214 (GRCh38)
9:35665212 (GRCh37)
Canonical SPDI:: NC_000009.12:35665214:TT:TTT
Gene:: ARHGEF39 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000022/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35665216dup, NC_000009.11:g.35665213dup, NM_032818.2:c.-46dup

Select item 148782795910.

rs1487827959 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:35662157 (GRCh38)
9:35662154 (GRCh37)
Canonical SPDI:: NC_000009.12:35662156:CC:C
Gene:: ARHGEF39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.35662158del, NC_000009.11:g.35662155del, NG_033120.1:g.8869del, NG_017041.1:g.862del

Select item 148624507711.

rs1486245077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:35662865 (GRCh38)
9:35662862 (GRCh37)
Canonical SPDI:: NC_000009.12:35662864:A:G
Gene:: ARHGEF39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000009.12:g.35662865A>G, NC_000009.11:g.35662862A>G, NG_033120.1:g.9576A>G, NG_017041.1:g.154T>C

Select item 148565460712.

rs1485654607 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:35659417 (GRCh38)
9:35659414 (GRCh37)
Canonical SPDI:: NC_000009.12:35659415:ACA:A
Gene:: RMRP (Varview), ARHGEF39 (Varview), CCDC107 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.35659417_35659418del, NC_000009.11:g.35659414_35659415del, NG_033120.1:g.6128_6129del, NG_017041.1:g.3602_3603del, NM_032818.3:c.*2570_*2571del, NM_032818.2:c.*2570_*2571del

Select item 148534351213.

rs1485343512 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:35662264 (GRCh38)
9:35662261 (GRCh37)
Canonical SPDI:: NC_000009.12:35662263:A:G
Gene:: ARHGEF39 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.35662264A>G, NC_000009.11:g.35662261A>G, NG_033120.1:g.8975A>G, NG_017041.1:g.755T>C, NM_032818.3:c.907T>C, NM_032818.2:c.907T>C, NM_001031728.1:c.907T>C, NP_116207.2:p.Ser303Pro

Select item 148525695514.

rs1485256955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35667016 (GRCh38)
9:35667013 (GRCh37)
Canonical SPDI:: NC_000009.12:35667015:G:A
Gene:: ARHGEF39 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000009.12:g.35667016G>A, NC_000009.11:g.35667013G>A

Select item 148518911815.

rs1485189118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35664973 (GRCh38)
9:35664970 (GRCh37)
Canonical SPDI:: NC_000009.12:35664972:G:A
Gene:: ARHGEF39 (Varview)
Functional Consequence:: intron_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_000009.12:g.35664973G>A, NC_000009.11:g.35664970G>A

Select item 148504166616.

rs1485041666 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:35659576 (GRCh38)
9:35659573 (GRCh37)
Canonical SPDI:: NC_000009.12:35659575:T:C
Gene:: RMRP (Varview), ARHGEF39 (Varview), CCDC107 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.35659576T>C, NC_000009.11:g.35659573T>C, NG_033120.1:g.6287T>C, NG_017041.1:g.3443A>G, NM_032818.3:c.*2411A>G, NM_032818.2:c.*2411A>G

Select item 148441830117.

rs1484418301 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 9:35660418 (GRCh38)
9:35660415 (GRCh37)
Canonical SPDI:: NC_000009.12:35660417:GG:G
Gene:: ARHGEF39 (Varview), CCDC107 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000009.12:g.35660419del, NC_000009.11:g.35660416del, NG_033120.1:g.7130del, NM_174923.3:c.277del, NM_174923.2:c.277del, NM_001195217.2:c.277del, NM_001195217.1:c.277del, NM_001195200.2:c.277del, NM_001195200.1:c.277del, NM_001195201.2:c.277del, NM_001195201.1:c.277del, NG_017041.1:g.2601del, XM_005251403.6:c.277del, XM_005251403.5:c.277del, XM_005251403.4:c.277del, XM_005251403.3:c.277del, XM_005251403.2:c.277del, XM_005251403.1:c.277del, NM_032818.3:c.*1569del, NM_032818.2:c.*1569del, NP_777583.2:p.Val93fs, NP_001182146.1:p.Val93fs, NP_001182129.1:p.Val93fs, NP_001182130.1:p.Val93fs, XP_005251460.1:p.Val93fs

Select item 148438436418.

rs1484384364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:35662048 (GRCh38)
9:35662045 (GRCh37)
Canonical SPDI:: NC_000009.12:35662047:A:C
Gene:: ARHGEF39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35662048A>C, NC_000009.11:g.35662045A>C, NG_033120.1:g.8759A>C, NG_017041.1:g.971T>G, NG_078812.1:g.397A>C

Select item 148389831419.

rs1483898314 [Homo sapiens]

Variant type:: DEL
Alleles:: TTCTTCT>- [Show Flanks]
Chromosome:: 9:35663011 (GRCh38)
9:35663008 (GRCh37)
Canonical SPDI:: NC_000009.12:35663010:TTCTTCT:
Gene:: ARHGEF39 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.35663011_35663017del, NC_000009.11:g.35663008_35663014del, NG_033120.1:g.9722_9728del, NG_017041.1:g.2_8del, NM_032818.3:c.602_608del, NM_032818.2:c.602_608del, NM_001031728.1:c.602_608del, NP_116207.2:p.Gln201fs

Select item 148383797120.

rs1483837971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:35664198 (GRCh38)
9:35664195 (GRCh37)
Canonical SPDI:: NC_000009.12:35664197:A:C
Gene:: ARHGEF39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.35664198A>C, NC_000009.11:g.35664195A>C

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