SNP Links for Nucleotide (Select 918410280) - SNP

Links from Nucleotide

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Select item 14907263121.

rs1490726312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:244835691 (GRCh38)
1:244998993 (GRCh37)
Canonical SPDI:: NC_000001.11:244835690:G:C,NC_000001.11:244835690:G:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00031/2 (1000Genomes)
HGVS:: NC_000001.11:g.244835691G>C, NC_000001.11:g.244835691G>T, NC_000001.10:g.244998993G>C, NC_000001.10:g.244998993G>T, NG_042825.1:g.5386G>C, NG_042825.1:g.5386G>T, NM_198076.6:c.-24G>C, NM_198076.6:c.-24G>T, NM_198076.5:c.-24G>C, NM_198076.5:c.-24G>T, NM_198076.4:c.-24G>C, NM_198076.4:c.-24G>T, NM_001312872.1:c.-24G>C, NM_001312872.1:c.-24G>T, NM_001312871.1:c.-24G>C, NM_001312871.1:c.-24G>T, NM_001312874.1:c.-24G>C, NM_001312874.1:c.-24G>T, NR_132420.1:n.216G>C, NR_132420.1:n.216G>T, NR_132419.1:n.216G>C, NR_132419.1:n.216G>T, NM_001312873.1:c.-24G>C, NM_001312873.1:c.-24G>T, NR_132421.1:n.216G>C, NR_132421.1:n.216G>T

Select item 14897369282.

rs1489736928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:244843640 (GRCh38)
1:245006942 (GRCh37)
Canonical SPDI:: NC_000001.11:244843639:A:G
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.244843640A>G, NC_000001.10:g.245006942A>G, NG_042825.1:g.13335A>G, NM_198076.6:c.*464A>G, NM_198076.5:c.*464A>G, NM_198076.4:c.*464A>G, NM_001312872.1:c.*464A>G, NM_001312871.1:c.*464A>G, NM_001312874.1:c.*631A>G, NR_132420.1:n.1040A>G, NR_132419.1:n.945A>G, NM_001312873.1:c.*464A>G, NR_132421.1:n.921A>G, NR_026778.1:n.2043T>C

Select item 14885680023.

rs1488568002 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:244842220 (GRCh38)
1:245005523 (GRCh37)
Canonical SPDI:: NC_000001.11:244842220:GG:GGG
Gene:: COX20 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.244842222dup, NC_000001.10:g.245005524dup, NG_042825.1:g.11917dup, NM_198076.6:c.185dup, NM_198076.5:c.185dup, NM_198076.4:c.185dup, NM_001312872.1:c.221dup, NM_001312871.1:c.185dup, NM_001312874.1:c.181dup, NR_132420.1:n.404dup, NR_132419.1:n.309dup, NM_001312873.1:c.50dup, NR_132421.1:n.285dup, NR_026778.1:n.3462dup, NP_932342.1:p.Val63fs, NP_001299801.1:p.Val75fs, NP_001299800.1:p.Val63fs, NP_001299803.1:p.Glu61fs, NP_001299802.1:p.Val18fs

Select item 14877437794.

rs1487743779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:244844223 (GRCh38)
1:245007525 (GRCh37)
Canonical SPDI:: NC_000001.11:244844222:A:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.244844223A>T, NC_000001.10:g.245007525A>T, NG_042825.1:g.13918A>T, NM_198076.6:c.*1047A>T, NM_198076.5:c.*1047A>T, NM_198076.4:c.*1047A>T, NM_001312872.1:c.*1047A>T, NM_001312871.1:c.*1047A>T, NM_001312874.1:c.*1214A>T, NR_132420.1:n.1623A>T, NR_132419.1:n.1528A>T, NM_001312873.1:c.*1047A>T, NR_132421.1:n.1504A>T, NR_026778.1:n.1460T>A

Select item 14864558345.

rs1486455834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:244844467 (GRCh38)
1:245007769 (GRCh37)
Canonical SPDI:: NC_000001.11:244844466:A:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.244844467A>T, NC_000001.10:g.245007769A>T, NG_042825.1:g.14162A>T, NM_198076.6:c.*1291A>T, NM_198076.5:c.*1291A>T, NM_198076.4:c.*1291A>T, NM_001312872.1:c.*1291A>T, NM_001312871.1:c.*1291A>T, NM_001312874.1:c.*1458A>T, NR_132420.1:n.1867A>T, NR_132419.1:n.1772A>T, NM_001312873.1:c.*1291A>T, NR_132421.1:n.1748A>T, NR_026778.1:n.1216T>A

Select item 14861822726.

rs1486182272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:244844812 (GRCh38)
1:245008114 (GRCh37)
Canonical SPDI:: NC_000001.11:244844811:C:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.244844812C>T, NC_000001.10:g.245008114C>T, NG_042825.1:g.14507C>T, NM_198076.6:c.*1636C>T, NM_198076.5:c.*1636C>T, NM_198076.4:c.*1636C>T, NM_001312872.1:c.*1636C>T, NM_001312871.1:c.*1636C>T, NM_001312874.1:c.*1803C>T, NR_132420.1:n.2212C>T, NR_132419.1:n.2117C>T, NM_001312873.1:c.*1636C>T, NR_132421.1:n.2093C>T, NR_026778.1:n.871G>A

Select item 14861280577.

rs1486128057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:244844065 (GRCh38)
1:245007367 (GRCh37)
Canonical SPDI:: NC_000001.11:244844064:G:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.244844065G>T, NC_000001.10:g.245007367G>T, NG_042825.1:g.13760G>T, NM_198076.6:c.*889G>T, NM_198076.5:c.*889G>T, NM_198076.4:c.*889G>T, NM_001312872.1:c.*889G>T, NM_001312871.1:c.*889G>T, NM_001312874.1:c.*1056G>T, NR_132420.1:n.1465G>T, NR_132419.1:n.1370G>T, NM_001312873.1:c.*889G>T, NR_132421.1:n.1346G>T, NR_026778.1:n.1618C>A

Select item 14859946088.

rs1485994608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:244845047 (GRCh38)
1:245008349 (GRCh37)
Canonical SPDI:: NC_000001.11:244845046:T:C
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.244845047T>C, NC_000001.10:g.245008349T>C, NG_042825.1:g.14742T>C, NM_198076.6:c.*1871T>C, NM_198076.5:c.*1871T>C, NM_198076.4:c.*1871T>C, NM_001312872.1:c.*1871T>C, NM_001312871.1:c.*1871T>C, NM_001312874.1:c.*2038T>C, NR_132420.1:n.2447T>C, NR_132419.1:n.2352T>C, NM_001312873.1:c.*1871T>C, NR_132421.1:n.2328T>C, NR_026778.1:n.636A>G

Select item 14854721079.

rs1485472107 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAG>- [Show Flanks]
Chromosome:: 1:244844751 (GRCh38)
1:245008053 (GRCh37)
Canonical SPDI:: NC_000001.11:244844747:GAGTGAG:GAG
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GAG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.244844751_244844754del, NC_000001.10:g.245008053_245008056del, NG_042825.1:g.14446_14449del, NM_198076.6:c.*1575_*1578del, NM_198076.5:c.*1575_*1578del, NM_198076.4:c.*1575_*1578del, NM_001312872.1:c.*1575_*1578del, NM_001312871.1:c.*1575_*1578del, NM_001312874.1:c.*1742_*1745del, NR_132420.1:n.2151_2154del, NR_132419.1:n.2056_2059del, NM_001312873.1:c.*1575_*1578del, NR_132421.1:n.2032_2035del, NR_026778.1:n.932_935del

Select item 148528530910.

rs1485285309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:244844980 (GRCh38)
1:245008282 (GRCh37)
Canonical SPDI:: NC_000001.11:244844979:T:C
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.244844980T>C, NC_000001.10:g.245008282T>C, NG_042825.1:g.14675T>C, NM_198076.6:c.*1804T>C, NM_198076.5:c.*1804T>C, NM_198076.4:c.*1804T>C, NM_001312872.1:c.*1804T>C, NM_001312871.1:c.*1804T>C, NM_001312874.1:c.*1971T>C, NR_132420.1:n.2380T>C, NR_132419.1:n.2285T>C, NM_001312873.1:c.*1804T>C, NR_132421.1:n.2261T>C, NR_026778.1:n.703A>G

Select item 148360404111.

rs1483604041 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:244843338 (GRCh38)
1:245006640 (GRCh37)
Canonical SPDI:: NC_000001.11:244843337:T:C
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.244843338T>C, NC_000001.10:g.245006640T>C, NG_042825.1:g.13033T>C, NM_198076.6:c.*162T>C, NM_198076.5:c.*162T>C, NM_198076.4:c.*162T>C, NM_001312872.1:c.*162T>C, NM_001312871.1:c.*162T>C, NM_001312874.1:c.*329T>C, NR_132420.1:n.738T>C, NR_132419.1:n.643T>C, NM_001312873.1:c.*162T>C, NR_132421.1:n.619T>C, NR_026778.1:n.2345A>G

Select item 148360186512.

rs1483601865 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTATTA>- [Show Flanks]
Chromosome:: 1:244843838 (GRCh38)
1:245007140 (GRCh37)
Canonical SPDI:: NC_000001.11:244843833:ATTACTATTA:ATTA
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.244843838_244843843del, NC_000001.10:g.245007140_245007145del, NG_042825.1:g.13533_13538del, NM_198076.6:c.*662_*667del, NM_198076.5:c.*662_*667del, NM_198076.4:c.*662_*667del, NM_001312872.1:c.*662_*667del, NM_001312871.1:c.*662_*667del, NM_001312874.1:c.*829_*834del, NR_132420.1:n.1238_1243del, NR_132419.1:n.1143_1148del, NM_001312873.1:c.*662_*667del, NR_132421.1:n.1119_1124del, NR_026778.1:n.1844_1849del

Select item 148342322913.

rs1483423229 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:244843999 (GRCh38)
1:245007301 (GRCh37)
Canonical SPDI:: NC_000001.11:244843998:A:C,NC_000001.11:244843998:A:G
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.244843999A>C, NC_000001.11:g.244843999A>G, NC_000001.10:g.245007301A>C, NC_000001.10:g.245007301A>G, NG_042825.1:g.13694A>C, NG_042825.1:g.13694A>G, NM_198076.6:c.*823A>C, NM_198076.6:c.*823A>G, NM_198076.5:c.*823A>C, NM_198076.5:c.*823A>G, NM_198076.4:c.*823A>C, NM_198076.4:c.*823A>G, NM_001312872.1:c.*823A>C, NM_001312872.1:c.*823A>G, NM_001312871.1:c.*823A>C, NM_001312871.1:c.*823A>G, NM_001312874.1:c.*990A>C, NM_001312874.1:c.*990A>G, NR_132420.1:n.1399A>C, NR_132420.1:n.1399A>G, NR_132419.1:n.1304A>C, NR_132419.1:n.1304A>G, NM_001312873.1:c.*823A>C, NM_001312873.1:c.*823A>G, NR_132421.1:n.1280A>C, NR_132421.1:n.1280A>G, NR_026778.1:n.1684T>G, NR_026778.1:n.1684T>C

Select item 148295189514.

rs1482951895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:244844045 (GRCh38)
1:245007347 (GRCh37)
Canonical SPDI:: NC_000001.11:244844044:A:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.244844045A>T, NC_000001.10:g.245007347A>T, NG_042825.1:g.13740A>T, NM_198076.6:c.*869A>T, NM_198076.5:c.*869A>T, NM_198076.4:c.*869A>T, NM_001312872.1:c.*869A>T, NM_001312871.1:c.*869A>T, NM_001312874.1:c.*1036A>T, NR_132420.1:n.1445A>T, NR_132419.1:n.1350A>T, NM_001312873.1:c.*869A>T, NR_132421.1:n.1326A>T, NR_026778.1:n.1638T>A

Select item 148224984515.

rs1482249845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:244843231 (GRCh38)
1:245006533 (GRCh37)
Canonical SPDI:: NC_000001.11:244843230:C:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.244843231C>T, NC_000001.10:g.245006533C>T, NG_042825.1:g.12926C>T, NM_198076.6:c.*55C>T, NM_198076.5:c.*55C>T, NM_198076.4:c.*55C>T, NM_001312872.1:c.*55C>T, NM_001312871.1:c.*55C>T, NM_001312874.1:c.*222C>T, NR_132420.1:n.631C>T, NR_132419.1:n.536C>T, NM_001312873.1:c.*55C>T, NR_132421.1:n.512C>T, NR_026778.1:n.2452G>A

Select item 148041782616.

rs1480417826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:244842210 (GRCh38)
1:245005512 (GRCh37)
Canonical SPDI:: NC_000001.11:244842209:C:A,NC_000001.11:244842209:C:G
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.244842210C>A, NC_000001.11:g.244842210C>G, NC_000001.10:g.245005512C>A, NC_000001.10:g.245005512C>G, NG_042825.1:g.11905C>A, NG_042825.1:g.11905C>G, NM_198076.6:c.173C>A, NM_198076.6:c.173C>G, NM_198076.5:c.173C>A, NM_198076.5:c.173C>G, NM_198076.4:c.173C>A, NM_198076.4:c.173C>G, NM_001312872.1:c.209C>A, NM_001312872.1:c.209C>G, NM_001312871.1:c.173C>A, NM_001312871.1:c.173C>G, NM_001312874.1:c.169C>A, NM_001312874.1:c.169C>G, NR_132420.1:n.392C>A, NR_132420.1:n.392C>G, NR_132419.1:n.297C>A, NR_132419.1:n.297C>G, NM_001312873.1:c.38C>A, NM_001312873.1:c.38C>G, NR_132421.1:n.273C>A, NR_132421.1:n.273C>G, NR_026778.1:n.3473G>T, NR_026778.1:n.3473G>C, NP_932342.1:p.Ser58Ter, NP_932342.1:p.Ser58Ter, NP_001299801.1:p.Ser70Ter, NP_001299801.1:p.Ser70Ter, NP_001299800.1:p.Ser58Ter, NP_001299800.1:p.Ser58Ter, NP_001299803.1:p.His57Asn, NP_001299803.1:p.His57Asp, NP_001299802.1:p.Ser13Ter, NP_001299802.1:p.Ser13Ter

Select item 147971714617.

rs1479717146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:244835554 (GRCh38)
1:244998856 (GRCh37)
Canonical SPDI:: NC_000001.11:244835553:T:G
Gene:: COX20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.244835554T>G, NC_000001.10:g.244998856T>G, NG_042825.1:g.5249T>G, NM_001312872.1:c.-161T>G, NM_001312871.1:c.-161T>G, NM_001312874.1:c.-161T>G, NR_132420.1:n.79T>G, NR_132419.1:n.79T>G, NM_001312873.1:c.-161T>G, NR_132421.1:n.79T>G, NM_198076.5:c.-161T>G, NM_198076.4:c.-161T>G

Select item 147950471218.

rs1479504712 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:244844934 (GRCh38)
1:245008237 (GRCh37)
Canonical SPDI:: NC_000001.11:244844934:AA:AAA
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.244844936dup, NC_000001.10:g.245008238dup, NG_042825.1:g.14631dup, NM_198076.6:c.*1760dup, NM_198076.5:c.*1760dup, NM_198076.4:c.*1760dup, NM_001312872.1:c.*1760dup, NM_001312871.1:c.*1760dup, NM_001312874.1:c.*1927dup, NR_132420.1:n.2336dup, NR_132419.1:n.2241dup, NM_001312873.1:c.*1760dup, NR_132421.1:n.2217dup, NR_026778.1:n.748dup

Select item 147902099519.

rs1479020995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:244835644 (GRCh38)
1:244998946 (GRCh37)
Canonical SPDI:: NC_000001.11:244835643:G:A,NC_000001.11:244835643:G:T
Gene:: COX20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000123/2 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
T=0.000685/96 (GnomAD)
T=0.000937/6 (1000Genomes)
HGVS:: NC_000001.11:g.244835644G>A, NC_000001.11:g.244835644G>T, NC_000001.10:g.244998946G>A, NC_000001.10:g.244998946G>T, NG_042825.1:g.5339G>A, NG_042825.1:g.5339G>T, NM_001312872.1:c.-71G>A, NM_001312872.1:c.-71G>T, NM_001312871.1:c.-71G>A, NM_001312871.1:c.-71G>T, NM_001312874.1:c.-71G>A, NM_001312874.1:c.-71G>T, NR_132420.1:n.169G>A, NR_132420.1:n.169G>T, NR_132419.1:n.169G>A, NR_132419.1:n.169G>T, NM_001312873.1:c.-71G>A, NM_001312873.1:c.-71G>T, NR_132421.1:n.169G>A, NR_132421.1:n.169G>T, NM_198076.5:c.-71G>A, NM_198076.5:c.-71G>T, NM_198076.4:c.-71G>A, NM_198076.4:c.-71G>T

Select item 147755497320.

rs1477554973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:244844680 (GRCh38)
1:245007982 (GRCh37)
Canonical SPDI:: NC_000001.11:244844679:C:G,NC_000001.11:244844679:C:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.244844680C>G, NC_000001.11:g.244844680C>T, NC_000001.10:g.245007982C>G, NC_000001.10:g.245007982C>T, NG_042825.1:g.14375C>G, NG_042825.1:g.14375C>T, NM_198076.6:c.*1504C>G, NM_198076.6:c.*1504C>T, NM_198076.5:c.*1504C>G, NM_198076.5:c.*1504C>T, NM_198076.4:c.*1504C>G, NM_198076.4:c.*1504C>T, NM_001312872.1:c.*1504C>G, NM_001312872.1:c.*1504C>T, NM_001312871.1:c.*1504C>G, NM_001312871.1:c.*1504C>T, NM_001312874.1:c.*1671C>G, NM_001312874.1:c.*1671C>T, NR_132420.1:n.2080C>G, NR_132420.1:n.2080C>T, NR_132419.1:n.1985C>G, NR_132419.1:n.1985C>T, NM_001312873.1:c.*1504C>G, NM_001312873.1:c.*1504C>T, NR_132421.1:n.1961C>G, NR_132421.1:n.1961C>T, NR_026778.1:n.1003G>C, NR_026778.1:n.1003G>A

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