SNP Links for Gene (Select 55072) - SNP

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Select item 14911749171.

rs1491174917 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:24159032 (GRCh38)
14:24628241 (GRCh37)
Canonical SPDI:: NC_000014.9:24159031:CA:
Gene:: RNF31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00076/9 (ALFA)
-=0.0022/55 (TOMMO)
HGVS:: NC_000014.9:g.24159032_24159033del, NG_042234.1:g.17158_17159del, NW_018654722.1:g.460010_460011del, NC_000014.8:g.24628241_24628242del

Select item 14911600802.

rs1491160080 has merged into rs529900287 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:24159043 (GRCh38)
14:24628252 (GRCh37)
Canonical SPDI:: NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24159032:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RNF31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.2512/1258 (1000Genomes)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000014.9:g.24159043_24159059del, NC_000014.9:g.24159044_24159059del, NC_000014.9:g.24159045_24159059del, NC_000014.9:g.24159046_24159059del, NC_000014.9:g.24159047_24159059del, NC_000014.9:g.24159048_24159059del, NC_000014.9:g.24159049_24159059del, NC_000014.9:g.24159050_24159059del, NC_000014.9:g.24159051_24159059del, NC_000014.9:g.24159052_24159059del, NC_000014.9:g.24159053_24159059del, NC_000014.9:g.24159054_24159059del, NC_000014.9:g.24159055_24159059del, NC_000014.9:g.24159056_24159059del, NC_000014.9:g.24159057_24159059del, NC_000014.9:g.24159058_24159059del, NC_000014.9:g.24159059del, NC_000014.9:g.24159059dup, NC_000014.9:g.24159058_24159059dup, NC_000014.9:g.24159057_24159059dup, NC_000014.9:g.24159056_24159059dup, NC_000014.9:g.24159055_24159059dup, NC_000014.9:g.24159054_24159059dup, NC_000014.9:g.24159052_24159059dup, NG_042234.1:g.17169_17185del, NG_042234.1:g.17170_17185del, NG_042234.1:g.17171_17185del, NG_042234.1:g.17172_17185del, NG_042234.1:g.17173_17185del, NG_042234.1:g.17174_17185del, NG_042234.1:g.17175_17185del, NG_042234.1:g.17176_17185del, NG_042234.1:g.17177_17185del, NG_042234.1:g.17178_17185del, NG_042234.1:g.17179_17185del, NG_042234.1:g.17180_17185del, NG_042234.1:g.17181_17185del, NG_042234.1:g.17182_17185del, NG_042234.1:g.17183_17185del, NG_042234.1:g.17184_17185del, NG_042234.1:g.17185del, NG_042234.1:g.17185dup, NG_042234.1:g.17184_17185dup, NG_042234.1:g.17183_17185dup, NG_042234.1:g.17182_17185dup, NG_042234.1:g.17181_17185dup, NG_042234.1:g.17180_17185dup, NG_042234.1:g.17178_17185dup, NW_018654722.1:g.460021_460037del, NW_018654722.1:g.460022_460037del, NW_018654722.1:g.460023_460037del, NW_018654722.1:g.460024_460037del, NW_018654722.1:g.460025_460037del, NW_018654722.1:g.460026_460037del, NW_018654722.1:g.460027_460037del, NW_018654722.1:g.460028_460037del, NW_018654722.1:g.460029_460037del, NW_018654722.1:g.460030_460037del, NW_018654722.1:g.460031_460037del, NW_018654722.1:g.460032_460037del, NW_018654722.1:g.460033_460037del, NW_018654722.1:g.460034_460037del, NW_018654722.1:g.460035_460037del, NW_018654722.1:g.460036_460037del, NW_018654722.1:g.460037del, NW_018654722.1:g.460037dup, NW_018654722.1:g.460036_460037dup, NW_018654722.1:g.460035_460037dup, NW_018654722.1:g.460034_460037dup, NW_018654722.1:g.460033_460037dup, NW_018654722.1:g.460032_460037dup, NW_018654722.1:g.460030_460037dup, NC_000014.8:g.24628252_24628268del, NC_000014.8:g.24628253_24628268del, NC_000014.8:g.24628254_24628268del, NC_000014.8:g.24628255_24628268del, NC_000014.8:g.24628256_24628268del, NC_000014.8:g.24628257_24628268del, NC_000014.8:g.24628258_24628268del, NC_000014.8:g.24628259_24628268del, NC_000014.8:g.24628260_24628268del, NC_000014.8:g.24628261_24628268del, NC_000014.8:g.24628262_24628268del, NC_000014.8:g.24628263_24628268del, NC_000014.8:g.24628264_24628268del, NC_000014.8:g.24628265_24628268del, NC_000014.8:g.24628266_24628268del, NC_000014.8:g.24628267_24628268del, NC_000014.8:g.24628268del, NC_000014.8:g.24628268dup, NC_000014.8:g.24628267_24628268dup, NC_000014.8:g.24628266_24628268dup, NC_000014.8:g.24628265_24628268dup, NC_000014.8:g.24628264_24628268dup, NC_000014.8:g.24628263_24628268dup, NC_000014.8:g.24628261_24628268dup

Select item 14910627793.

rs1491062779 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 14:24159608 (GRCh38)
14:24628817 (GRCh37)
Canonical SPDI:: NC_000014.9:24159605:ACAC:AC
Gene:: IRF9 (Varview), RNF31 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ACAC=0./0 (ALFA)
HGVS:: NC_000014.9:g.24159606AC[1], NG_042234.1:g.17732AC[1], NW_018654722.1:g.460584AC[1], NC_000014.8:g.24628815AC[1]

Select item 14910384704.

rs1491038470 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAC,AC [Show Flanks]
Chromosome:: 14:24159606 (GRCh38)
14:24628816 (GRCh37)
Canonical SPDI:: NC_000014.9:24159606::AAC,NC_000014.9:24159606::AC
Gene:: IRF9 (Varview), RNF31 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
HGVS:: NC_000014.9:g.24159606_24159607insAAC, NC_000014.9:g.24159606_24159607insAC, NG_042234.1:g.17732_17733insAAC, NG_042234.1:g.17732_17733insAC, NW_018654722.1:g.460584_460585insAAC, NW_018654722.1:g.460584_460585insAC, NC_000014.8:g.24628815_24628816insAAC, NC_000014.8:g.24628815_24628816insAC

Select item 14908498285.

rs1490849828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:24145810 (GRCh38)
14:24615019 (GRCh37)
Canonical SPDI:: NC_000014.9:24145809:A:T
Gene:: PSME2 (Varview), RNF31 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24145810A>T, NG_042234.1:g.3936A>T, NW_018654722.1:g.446788A>T, NC_000014.8:g.24615019A>T, XM_006720213.3:c.-188T>A, XM_006720213.2:c.-188T>A, XM_006720213.1:c.-188T>A

Select item 14899811986.

rs1489981198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24160510 (GRCh38)
14:24629719 (GRCh37)
Canonical SPDI:: NC_000014.9:24160509:C:T
Gene:: IRF9 (Varview), RNF31 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.24160510C>T, NG_042234.1:g.18636C>T, NW_018654722.1:g.461488C>T, NC_000014.8:g.24629719C>T

Select item 14898976857.

rs1489897685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24158997 (GRCh38)
14:24628206 (GRCh37)
Canonical SPDI:: NC_000014.9:24158996:C:T
Gene:: RNF31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24158997C>T, NG_042234.1:g.17123C>T, NW_018654722.1:g.459975C>T, NC_000014.8:g.24628206C>T

Select item 14894667668.

rs1489466766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:24149542 (GRCh38)
14:24618751 (GRCh37)
Canonical SPDI:: NC_000014.9:24149541:G:T
Gene:: RNF31 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000014.9:g.24149542G>T, NG_042234.1:g.7668G>T, NM_017999.5:c.768G>T, NM_017999.4:c.768G>T, NM_001310332.2:c.315G>T, NM_001310332.1:c.315G>T, NW_018654722.1:g.450520G>T, NC_000014.8:g.24618751G>T, NP_060469.4:p.Gln256His, NP_001297261.1:p.Gln105His

Select item 14892933809.

rs1489293380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:24152714 (GRCh38)
14:24621923 (GRCh37)
Canonical SPDI:: NC_000014.9:24152713:C:G,NC_000014.9:24152713:C:T
Gene:: RNF31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
T=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.24152714C>G, NC_000014.9:g.24152714C>T, NG_042234.1:g.10840C>G, NG_042234.1:g.10840C>T, NW_018654722.1:g.453692C>G, NW_018654722.1:g.453692C>T, NC_000014.8:g.24621923C>G, NC_000014.8:g.24621923C>T

Select item 148922971510.

rs1489229715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24145873 (GRCh38)
14:24615082 (GRCh37)
Canonical SPDI:: NC_000014.9:24145872:C:T
Gene:: PSME2 (Varview), RNF31 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.24145873C>T, NG_042234.1:g.3999C>T, NW_018654722.1:g.446851C>T, NC_000014.8:g.24615082C>T, XM_006720213.3:c.-251G>A, XM_006720213.2:c.-251G>A, XM_006720213.1:c.-251G>A

Select item 148913171011.

rs1489131710 [Homo sapiens]

Variant type:: DEL
Alleles:: CAAAAAAAAA>- [Show Flanks]
Chromosome:: 14:24159584 (GRCh38)
14:24628793 (GRCh37)
Canonical SPDI:: NC_000014.9:24159583:CAAAAAAAAA:
Gene:: IRF9 (Varview), RNF31 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.24159584_24159593del, NG_042234.1:g.17710_17719del, NW_018654722.1:g.460562_460571del, NC_000014.8:g.24628793_24628802del

Select item 148887992712.

rs1488879927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:24161084 (GRCh38)
14:24630293 (GRCh37)
Canonical SPDI:: NC_000014.9:24161083:G:A,NC_000014.9:24161083:G:C
Gene:: IRF9 (Varview), RNF31 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24161084G>A, NC_000014.9:g.24161084G>C, NG_042234.1:g.19210G>A, NG_042234.1:g.19210G>C, NW_018654722.1:g.462062G>A, NW_018654722.1:g.462062G>C, NC_000014.8:g.24630293G>A, NC_000014.8:g.24630293G>C

Select item 148886073813.

rs1488860738 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:24154008 (GRCh38)
14:24623217 (GRCh37)
Canonical SPDI:: NC_000014.9:24154007:T:G
Gene:: RNF31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24154008T>G, NG_042234.1:g.12134T>G, NW_018654722.1:g.454986T>G, NC_000014.8:g.24623217T>G

Select item 148868522614.

rs1488685226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:24157818 (GRCh38)
14:24627027 (GRCh37)
Canonical SPDI:: NC_000014.9:24157817:C:G
Gene:: RNF31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.24157818C>G, NG_042234.1:g.15944C>G, NW_018654722.1:g.458796C>G, NC_000014.8:g.24627027C>G

Select item 148865353015.

rs1488653530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:24156765 (GRCh38)
14:24625974 (GRCh37)
Canonical SPDI:: NC_000014.9:24156764:C:A,NC_000014.9:24156764:C:T
Gene:: RNF31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24156765C>A, NC_000014.9:g.24156765C>T, NG_042234.1:g.14891C>A, NG_042234.1:g.14891C>T, NW_018654722.1:g.457743C>A, NW_018654722.1:g.457743C>T, NC_000014.8:g.24625974C>A, NC_000014.8:g.24625974C>T

Select item 148814978716.

rs1488149787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24160716 (GRCh38)
14:24629925 (GRCh37)
Canonical SPDI:: NC_000014.9:24160715:C:T
Gene:: IRF9 (Varview), RNF31 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.24160716C>T, NG_042234.1:g.18842C>T, NW_018654722.1:g.461694C>T, NC_000014.8:g.24629925C>T

Select item 148730734117.

rs1487307341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24147680 (GRCh38)
14:24616889 (GRCh37)
Canonical SPDI:: NC_000014.9:24147679:G:A
Gene:: PSME2 (Varview), RNF31 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
HGVS:: NC_000014.9:g.24147680G>A, NG_042234.1:g.5806G>A, NM_017999.5:c.-19G>A, NM_017999.4:c.-19G>A, NW_018654722.1:g.448658G>A, NC_000014.8:g.24616889G>A

Select item 148711695118.

rs1487116951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:24151257 (GRCh38)
14:24620466 (GRCh37)
Canonical SPDI:: NC_000014.9:24151256:G:T
Gene:: RNF31 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000177/3 (TOMMO)
HGVS:: NC_000014.9:g.24151257G>T, NG_042234.1:g.9383G>T, NM_017999.5:c.1615G>T, NM_017999.4:c.1615G>T, NM_001310332.2:c.1162G>T, NM_001310332.1:c.1162G>T, NW_018654722.1:g.452235G>T, NC_000014.8:g.24620466G>T, NP_060469.4:p.Ala539Ser, NP_001297261.1:p.Ala388Ser

Select item 148689533319.

rs1486895333 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 14:24153281 (GRCh38)
14:24622490 (GRCh37)
Canonical SPDI:: NC_000014.9:24153280:AAAAAAA:AAAAAA,NC_000014.9:24153280:AAAAAAA:AAAAAAAA
Gene:: RNF31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.24153287del, NC_000014.9:g.24153287dup, NG_042234.1:g.11413del, NG_042234.1:g.11413dup, NW_018654722.1:g.454265del, NW_018654722.1:g.454265dup, NC_000014.8:g.24622496del, NC_000014.8:g.24622496dup

Select item 148687835120.

rs1486878351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24150771 (GRCh38)
14:24619980 (GRCh37)
Canonical SPDI:: NC_000014.9:24150770:C:T
Gene:: RNF31 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000085/3 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.24150771C>T, NG_042234.1:g.8897C>T, NM_017999.5:c.1371C>T, NM_017999.4:c.1371C>T, NM_001310332.2:c.918C>T, NM_001310332.1:c.918C>T, NW_018654722.1:g.451749C>T, NC_000014.8:g.24619980C>T

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