SNP Links for Gene (Select 4515) - SNP

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Select item 14900078061.

rs1490007806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155064983 (GRCh38)
X:154293258 (GRCh37)
Canonical SPDI:: NC_000023.11:155064982:C:T
Gene:: MTCP1 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/3 (GnomAD)
T=0.000078/1 (TOMMO)
HGVS:: NC_000023.11:g.155064983C>T, NW_003871103.3:g.2498962C>T, NG_029506.1:g.11290G>A, NM_001018025.4:c.*421G>A, NM_001018025.3:c.*421G>A, NC_000023.10:g.154293258C>T, NM_014221.3:c.-57G>A, NM_014221.2:c.-57G>A, NM_014221.1:c.-57G>A

Select item 14893257202.

rs1489325720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:155069780 (GRCh38)
X:154298055 (GRCh37)
Canonical SPDI:: NC_000023.11:155069779:G:C
Gene:: MTCP1 (Varview), BRCC3 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000067/7 (GnomAD)
HGVS:: NC_000023.11:g.155069780G>C, NW_003871103.3:g.2503759G>C, NG_047184.1:g.3361G>C, NG_029506.1:g.6493C>G, NC_000023.10:g.154298055G>C

Select item 14889186193.

rs1488918619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:155067914 (GRCh38)
X:154296189 (GRCh37)
Canonical SPDI:: NC_000023.11:155067913:A:G
Gene:: MTCP1 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155067914A>G, NW_003871103.3:g.2501893A>G, NG_047184.1:g.1495A>G, NG_029506.1:g.8359T>C, NC_000023.10:g.154296189A>G

Select item 14884749974.

rs1488474997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:155071359 (GRCh38)
X:154299634 (GRCh37)
Canonical SPDI:: NC_000023.11:155071358:G:C
Gene:: MTCP1 (Varview), BRCC3 (Varview), CMC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00002/1 (GnomAD)
C=0.0324/79 (KOREAN)
HGVS:: NC_000023.11:g.155071359G>C, NW_003871103.3:g.2505338G>C, NG_047184.1:g.4940G>C, NG_029506.1:g.4914C>G, NC_000023.10:g.154299634G>C, NM_014221.3:c.-1514C>G

Select item 14883371955.

rs1488337195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:155070584 (GRCh38)
X:154298859 (GRCh37)
Canonical SPDI:: NC_000023.11:155070583:A:G
Gene:: MTCP1 (Varview), BRCC3 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155070584A>G, NW_003871103.3:g.2504563A>G, NG_047184.1:g.4165A>G, NG_029506.1:g.5689T>C, NC_000023.10:g.154298859A>G

Select item 14882955766.

rs1488295576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155068745 (GRCh38)
X:154297020 (GRCh37)
Canonical SPDI:: NC_000023.11:155068744:G:A
Gene:: MTCP1 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.155068745G>A, NW_003871103.3:g.2502724G>A, NG_047184.1:g.2326G>A, NG_029506.1:g.7528C>T, NC_000023.10:g.154297020G>A

Select item 14882300417.

rs1488230041 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:155064710 (GRCh38)
X:154292985 (GRCh37)
Canonical SPDI:: NC_000023.11:155064709:T:G
Gene:: MTCP1 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.155064710T>G, NW_003871103.3:g.2498689T>G, NG_029506.1:g.11563A>C, NM_001018025.4:c.*694A>C, NM_001018025.3:c.*694A>C, NC_000023.10:g.154292985T>G

Select item 14872527988.

rs1487252798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:155065884 (GRCh38)
X:154294159 (GRCh37)
Canonical SPDI:: NC_000023.11:155065883:T:G
Gene:: MTCP1 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.155065884T>G, NW_003871103.3:g.2499863T>G, NG_029506.1:g.10389A>C, NC_000023.10:g.154294159T>G

Select item 14870103789.

rs1487010378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:155071294 (GRCh38)
X:154299569 (GRCh37)
Canonical SPDI:: NC_000023.11:155071293:G:T
Gene:: MTCP1 (Varview), BRCC3 (Varview), CMC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.155071294G>T, NW_003871103.3:g.2505273G>T, NG_047184.1:g.4875G>T, NG_029506.1:g.4979C>A, NC_000023.10:g.154299569G>T, NM_014221.3:c.-1449C>A, NM_014221.2:c.-1448C>A

Select item 148608935810.

rs1486089358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155072991 (GRCh38)
X:154301266 (GRCh37)
Canonical SPDI:: NC_000023.11:155072990:C:T
Gene:: MTCP1 (Varview), BRCC3 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.155072991C>T, NW_003871103.3:g.2506970C>T, NG_047184.1:g.6572C>T, NG_029506.1:g.3282G>A, NC_000023.10:g.154301266C>T

Select item 148474483911.

rs1484744839 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: X:155063761 (GRCh38)
X:154292036 (GRCh37)
Canonical SPDI:: NC_000023.11:155063760:TA:
Gene:: MTCP1 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.155063761_155063762del, NW_003871103.3:g.2497740_2497741del, NG_029506.1:g.12511_12512del, NC_000023.10:g.154292036_154292037del

Select item 148469861712.

rs1484698617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155069526 (GRCh38)
X:154297801 (GRCh37)
Canonical SPDI:: NC_000023.11:155069525:G:A
Gene:: MTCP1 (Varview), BRCC3 (Varview), CMC4 (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.155069526G>A, NW_003871103.3:g.2503505G>A, NG_047184.1:g.3107G>A, NG_029506.1:g.6747C>T, NC_000023.10:g.154297801G>A

Select item 148346581713.

rs1483465817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155069518 (GRCh38)
X:154297793 (GRCh37)
Canonical SPDI:: NC_000023.11:155069517:C:T
Gene:: MTCP1 (Varview), BRCC3 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/3 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000023.11:g.155069518C>T, NW_003871103.3:g.2503497C>T, NG_047184.1:g.3099C>T, NG_029506.1:g.6755G>A, NC_000023.10:g.154297793C>T

Select item 148287256414.

rs1482872564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:155067765 (GRCh38)
X:154296040 (GRCh37)
Canonical SPDI:: NC_000023.11:155067764:G:C
Gene:: MTCP1 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.155067765G>C, NW_003871103.3:g.2501744G>C, NG_047184.1:g.1346G>C, NG_029506.1:g.8508C>G, NC_000023.10:g.154296040G>C

Select item 148278957115.

rs1482789571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:155072171 (GRCh38)
X:154300446 (GRCh37)
Canonical SPDI:: NC_000023.11:155072170:A:G
Gene:: MTCP1 (Varview), BRCC3 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.155072171A>G, NW_003871103.3:g.2506150A>G, NG_047184.1:g.5752A>G, NG_029506.1:g.4102T>C, NC_000023.10:g.154300446A>G

Select item 148278106416.

rs1482781064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155065582 (GRCh38)
X:154293857 (GRCh37)
Canonical SPDI:: NC_000023.11:155065581:C:T
Gene:: MTCP1 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.155065582C>T, NW_003871103.3:g.2499561C>T, NG_029506.1:g.10691G>A, NC_000023.10:g.154293857C>T

Select item 148180701317.

rs1481807013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155072826 (GRCh38)
X:154301101 (GRCh37)
Canonical SPDI:: NC_000023.11:155072825:G:A
Gene:: MTCP1 (Varview), BRCC3 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.155072826G>A, NW_003871103.3:g.2506805G>A, NG_047184.1:g.6407G>A, NG_029506.1:g.3447C>T, NC_000023.10:g.154301101G>A

Select item 148135740118.

rs1481357401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:155066391 (GRCh38)
X:154294666 (GRCh37)
Canonical SPDI:: NC_000023.11:155066390:T:C
Gene:: MTCP1 (Varview), CMC4 (Varview)
Functional Consequence:: intron_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.155066391T>C, NW_003871103.3:g.2500370T>C, NG_029506.1:g.9882A>G, NC_000023.10:g.154294666T>C

Select item 148126632619.

rs1481266326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:155064050 (GRCh38)
X:154292325 (GRCh37)
Canonical SPDI:: NC_000023.11:155064049:G:C
Gene:: MTCP1 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.155064050G>C, NW_003871103.3:g.2498029G>C, NG_029506.1:g.12223C>G, NM_001018025.4:c.*1354C>G, NM_001018025.3:c.*1354C>G, NC_000023.10:g.154292325G>C

Select item 147998316820.

rs1479983168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:155070170 (GRCh38)
X:154298445 (GRCh37)
Canonical SPDI:: NC_000023.11:155070169:G:T
Gene:: MTCP1 (Varview), BRCC3 (Varview), CMC4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000019/2 (GnomAD)
T=0.000038/10 (TOPMED)
T=0.000624/3 (1000Genomes)
HGVS:: NC_000023.11:g.155070170G>T, NW_003871103.3:g.2504149G>T, NG_047184.1:g.3751G>T, NG_029506.1:g.6103C>A, NC_000023.10:g.154298445G>T

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