SNP Links for Nucleotide (Select 395394051) - SNP

Links from Nucleotide

Items: 1 to 20 of 1660

<< First< Prev

Page of 83

Next >Last >>

Select item 14910152761.

rs1491015276 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 14:59369800 (GRCh38)
14:59836518 (GRCh37)
Canonical SPDI:: NC_000014.9:59369797:TATA:TA
Gene:: DAAM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.59369798TA[1], NC_000014.8:g.59836516TA[1], NG_047127.1:g.186188TA[1], NM_001270520.2:c.*939TA[1], NM_001270520.1:c.*939TA[1], NM_014992.2:c.*939TA[1], XM_005267430.3:c.*939TA[1], XM_005267430.2:c.*939TA[1], XM_005267430.1:c.*939TA[1], XM_005267431.2:c.*939TA[1], XM_005267431.1:c.*939TA[1], XM_047431135.1:c.*939TA[1]

Select item 14900554212.

rs1490055421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:59355309 (GRCh38)
14:59822027 (GRCh37)
Canonical SPDI:: NC_000014.9:59355308:C:T
Gene:: DAAM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.59355309C>T, NC_000014.8:g.59822027C>T, NG_047127.1:g.171699C>T, NM_001270520.2:c.2501C>T, NM_001270520.1:c.2501C>T, NM_014992.2:c.2531C>T, XM_005267430.3:c.2531C>T, XM_005267430.2:c.2531C>T, XM_005267430.1:c.2531C>T, XM_005267431.2:c.2531C>T, XM_005267431.1:c.2531C>T, XM_047431135.1:c.2501C>T, NP_001257449.1:p.Ala834Val, NP_055807.1:p.Ala844Val, XP_005267487.1:p.Ala844Val, XP_005267488.1:p.Ala844Val, XP_047287091.1:p.Ala834Val

Select item 14898336303.

rs1489833630 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:59371158 (GRCh38)
14:59837876 (GRCh37)
Canonical SPDI:: NC_000014.9:59371157:T:C,NC_000014.9:59371157:T:G
Gene:: DAAM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000086/12 (GnomAD)
HGVS:: NC_000014.9:g.59371158T>C, NC_000014.9:g.59371158T>G, NC_000014.8:g.59837876T>C, NC_000014.8:g.59837876T>G, NG_047127.1:g.187548T>C, NG_047127.1:g.187548T>G, NM_001270520.2:c.*2299T>C, NM_001270520.2:c.*2299T>G, NM_001270520.1:c.*2299T>C, NM_001270520.1:c.*2299T>G, NM_014992.2:c.*2299T>C, NM_014992.2:c.*2299T>G, XM_005267430.3:c.*2299T>C, XM_005267430.3:c.*2299T>G, XM_005267430.2:c.*2299T>C, XM_005267430.2:c.*2299T>G, XM_005267430.1:c.*2299T>C, XM_005267430.1:c.*2299T>G, XM_005267431.2:c.*2299T>C, XM_005267431.2:c.*2299T>G, XM_005267431.1:c.*2299T>C, XM_005267431.1:c.*2299T>G, XM_047431135.1:c.*2299T>C, XM_047431135.1:c.*2299T>G

Select item 14896474784.

rs1489647478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:59370647 (GRCh38)
14:59837365 (GRCh37)
Canonical SPDI:: NC_000014.9:59370646:C:G
Gene:: DAAM1 (Varview)
Functional Consequence:: 3_prime_UTR_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.59370647C>G, NC_000014.8:g.59837365C>G, NG_047127.1:g.187037C>G, NM_001270520.2:c.*1788C>G, NM_001270520.1:c.*1788C>G, NM_014992.2:c.*1788C>G, XM_005267430.3:c.*1788C>G, XM_005267430.2:c.*1788C>G, XM_005267430.1:c.*1788C>G, XM_005267431.2:c.*1788C>G, XM_005267431.1:c.*1788C>G, XM_047431135.1:c.*1788C>G

Select item 14893731555.

rs1489373155 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:59369253 (GRCh38)
14:59835972 (GRCh37)
Canonical SPDI:: NC_000014.9:59369253::C
Gene:: DAAM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000035/1 (TOMMO)
C=0.000082/11 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000014.9:g.59369253_59369254insC, NC_000014.8:g.59835971_59835972insC, NG_047127.1:g.185643_185644insC, NM_001270520.2:c.*394_*395insC, NM_001270520.1:c.*394_*395insC, NM_014992.2:c.*394_*395insC, XM_005267430.3:c.*394_*395insC, XM_005267430.2:c.*394_*395insC, XM_005267430.1:c.*394_*395insC, XM_005267431.2:c.*394_*395insC, XM_005267431.1:c.*394_*395insC, XM_047431135.1:c.*394_*395insC

Select item 14893013246.

rs1489301324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:59369435 (GRCh38)
14:59836153 (GRCh37)
Canonical SPDI:: NC_000014.9:59369434:A:T
Gene:: DAAM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.000389/7 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.001369/4 (KOREAN)
HGVS:: NC_000014.9:g.59369435A>T, NC_000014.8:g.59836153A>T, NG_047127.1:g.185825A>T, NM_001270520.2:c.*576A>T, NM_001270520.1:c.*576A>T, NM_014992.2:c.*576A>T, XM_005267430.3:c.*576A>T, XM_005267430.2:c.*576A>T, XM_005267430.1:c.*576A>T, XM_005267431.2:c.*576A>T, XM_005267431.1:c.*576A>T, XM_047431135.1:c.*576A>T

Select item 14892919067.

rs1489291906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 14:59369783 (GRCh38)
14:59836501 (GRCh37)
Canonical SPDI:: NC_000014.9:59369782:G:C,NC_000014.9:59369782:G:T
Gene:: DAAM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
HGVS:: NC_000014.9:g.59369783G>C, NC_000014.9:g.59369783G>T, NC_000014.8:g.59836501G>C, NC_000014.8:g.59836501G>T, NG_047127.1:g.186173G>C, NG_047127.1:g.186173G>T, NM_001270520.2:c.*924G>C, NM_001270520.2:c.*924G>T, NM_001270520.1:c.*924G>C, NM_001270520.1:c.*924G>T, NM_014992.2:c.*924G>C, NM_014992.2:c.*924G>T, XM_005267430.3:c.*924G>C, XM_005267430.3:c.*924G>T, XM_005267430.2:c.*924G>C, XM_005267430.2:c.*924G>T, XM_005267430.1:c.*924G>C, XM_005267430.1:c.*924G>T, XM_005267431.2:c.*924G>C, XM_005267431.2:c.*924G>T, XM_005267431.1:c.*924G>C, XM_005267431.1:c.*924G>T, XM_047431135.1:c.*924G>C, XM_047431135.1:c.*924G>T

Select item 14885512878.

rs1488551287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:59359459 (GRCh38)
14:59826177 (GRCh37)
Canonical SPDI:: NC_000014.9:59359458:A:G
Gene:: DAAM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.59359459A>G, NC_000014.8:g.59826177A>G, NG_047127.1:g.175849A>G, NM_001270520.2:c.2588A>G, NM_001270520.1:c.2588A>G, NM_014992.2:c.2618A>G, XM_005267430.3:c.2618A>G, XM_005267430.2:c.2618A>G, XM_005267430.1:c.2618A>G, XM_005267431.2:c.2618A>G, XM_005267431.1:c.2618A>G, XM_047431135.1:c.2588A>G, NP_001257449.1:p.Asn863Ser, NP_055807.1:p.Asn873Ser, XP_005267487.1:p.Asn873Ser, XP_005267488.1:p.Asn873Ser, XP_047287091.1:p.Asn863Ser

Select item 14884383729.

rs1488438372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:59340087 (GRCh38)
14:59806805 (GRCh37)
Canonical SPDI:: NC_000014.9:59340086:C:A
Gene:: DAAM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.59340087C>A, NC_000014.8:g.59806805C>A, NG_047127.1:g.156477C>A, NM_001270520.2:c.1982C>A, NM_001270520.1:c.1982C>A, NM_014992.2:c.2012C>A, XM_005267430.3:c.2012C>A, XM_005267430.2:c.2012C>A, XM_005267430.1:c.2012C>A, XM_005267431.2:c.2012C>A, XM_005267431.1:c.2012C>A, XM_047431135.1:c.1982C>A, NP_001257449.1:p.Ala661Asp, NP_055807.1:p.Ala671Asp, XP_005267487.1:p.Ala671Asp, XP_005267488.1:p.Ala671Asp, XP_047287091.1:p.Ala661Asp

Select item 148839105110.

rs1488391051 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAT,TGAT [Show Flanks]
Chromosome:: 14:59370113 (GRCh38)
14:59836832 (GRCh37)
Canonical SPDI:: NC_000014.9:59370113:TGAT:TGATGAT,NC_000014.9:59370113:TGAT:TGATTGAT
Gene:: DAAM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGATTGAT=0./0 (ALFA)
HGVS:: NC_000014.9:g.59370115_59370117dup, NC_000014.9:g.59370114_59370117dup, NC_000014.8:g.59836833_59836835dup, NC_000014.8:g.59836832_59836835dup, NG_047127.1:g.186505_186507dup, NG_047127.1:g.186504_186507dup, NM_001270520.2:c.*1256_*1258dup, NM_001270520.2:c.*1255_*1258dup, NM_001270520.1:c.*1256_*1258dup, NM_001270520.1:c.*1255_*1258dup, NM_014992.2:c.*1256_*1258dup, NM_014992.2:c.*1255_*1258dup, XM_005267430.3:c.*1256_*1258dup, XM_005267430.3:c.*1255_*1258dup, XM_005267430.2:c.*1256_*1258dup, XM_005267430.2:c.*1255_*1258dup, XM_005267430.1:c.*1256_*1258dup, XM_005267430.1:c.*1255_*1258dup, XM_005267431.2:c.*1256_*1258dup, XM_005267431.2:c.*1255_*1258dup, XM_005267431.1:c.*1256_*1258dup, XM_005267431.1:c.*1255_*1258dup, XM_047431135.1:c.*1256_*1258dup, XM_047431135.1:c.*1255_*1258dup

Select item 148758291911.

rs1487582919 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 14:59369246 (GRCh38)
14:59835964 (GRCh37)
Canonical SPDI:: NC_000014.9:59369245:C:
Gene:: DAAM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.59369246del, NC_000014.8:g.59835964del, NG_047127.1:g.185636del, NM_001270520.2:c.*387del, NM_001270520.1:c.*387del, NM_014992.2:c.*387del, XM_005267430.3:c.*387del, XM_005267430.2:c.*387del, XM_005267430.1:c.*387del, XM_005267431.2:c.*387del, XM_005267431.1:c.*387del, XM_047431135.1:c.*387del

Select item 148751397212.

rs1487513972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:59370190 (GRCh38)
14:59836908 (GRCh37)
Canonical SPDI:: NC_000014.9:59370189:G:T
Gene:: DAAM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00055/9 (ALFA)
T=0.00131/22 (TOMMO)
T=0.01027/30 (KOREAN)
T=0.0165/73 (Estonian)
HGVS:: NC_000014.9:g.59370190G>T, NC_000014.8:g.59836908G>T, NG_047127.1:g.186580G>T, NM_001270520.2:c.*1331G>T, NM_001270520.1:c.*1331G>T, NM_014992.2:c.*1331G>T, XM_005267430.3:c.*1331G>T, XM_005267430.2:c.*1331G>T, XM_005267430.1:c.*1331G>T, XM_005267431.2:c.*1331G>T, XM_005267431.1:c.*1331G>T, XM_047431135.1:c.*1331G>T

Select item 148718784513.

rs1487187845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 14:59330673 (GRCh38)
14:59797391 (GRCh37)
Canonical SPDI:: NC_000014.9:59330672:C:A,NC_000014.9:59330672:C:G
Gene:: DAAM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.59330673C>A, NC_000014.9:g.59330673C>G, NC_000014.8:g.59797391C>A, NC_000014.8:g.59797391C>G, NG_047127.1:g.147063C>A, NG_047127.1:g.147063C>G, NM_001270520.2:c.1545C>A, NM_001270520.2:c.1545C>G, NM_001270520.1:c.1545C>A, NM_001270520.1:c.1545C>G, NM_014992.2:c.1545C>A, NM_014992.2:c.1545C>G, XM_005267430.3:c.1545C>A, XM_005267430.3:c.1545C>G, XM_005267430.2:c.1545C>A, XM_005267430.2:c.1545C>G, XM_005267430.1:c.1545C>A, XM_005267430.1:c.1545C>G, XM_005267431.2:c.1545C>A, XM_005267431.2:c.1545C>G, XM_005267431.1:c.1545C>A, XM_005267431.1:c.1545C>G, XM_047431135.1:c.1545C>A, XM_047431135.1:c.1545C>G

Select item 148663831314.

rs1486638313 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:59347583 (GRCh38)
14:59814301 (GRCh37)
Canonical SPDI:: NC_000014.9:59347582:T:C
Gene:: DAAM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.59347583T>C, NC_000014.8:g.59814301T>C, NG_047127.1:g.163973T>C, NM_001270520.2:c.2120T>C, NM_001270520.1:c.2120T>C, NM_014992.2:c.2150T>C, XM_005267430.3:c.2150T>C, XM_005267430.2:c.2150T>C, XM_005267430.1:c.2150T>C, XM_005267431.2:c.2150T>C, XM_005267431.1:c.2150T>C, XM_047431135.1:c.2120T>C, NP_001257449.1:p.Met707Thr, NP_055807.1:p.Met717Thr, XP_005267487.1:p.Met717Thr, XP_005267488.1:p.Met717Thr, XP_047287091.1:p.Met707Thr

Select item 148597276115.

rs1485972761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:59322908 (GRCh38)
14:59789626 (GRCh37)
Canonical SPDI:: NC_000014.9:59322907:A:G
Gene:: DAAM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.59322908A>G, NC_000014.8:g.59789626A>G, NG_047127.1:g.139298A>G, NM_001270520.2:c.457A>G, NM_001270520.1:c.457A>G, NM_014992.2:c.457A>G, XM_005267430.3:c.457A>G, XM_005267430.2:c.457A>G, XM_005267430.1:c.457A>G, XM_005267431.2:c.457A>G, XM_005267431.1:c.457A>G, XM_047431135.1:c.457A>G, NP_001257449.1:p.Ile153Val, NP_055807.1:p.Ile153Val, XP_005267487.1:p.Ile153Val, XP_005267488.1:p.Ile153Val, XP_047287091.1:p.Ile153Val

Select item 148592125916.

rs1485921259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:59369727 (GRCh38)
14:59836445 (GRCh37)
Canonical SPDI:: NC_000014.9:59369726:G:A,NC_000014.9:59369726:G:T
Gene:: DAAM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00135/16 (ALFA)
A=0.01712/50 (KOREAN)
HGVS:: NC_000014.9:g.59369727G>A, NC_000014.9:g.59369727G>T, NC_000014.8:g.59836445G>A, NC_000014.8:g.59836445G>T, NG_047127.1:g.186117G>A, NG_047127.1:g.186117G>T, NM_001270520.2:c.*868G>A, NM_001270520.2:c.*868G>T, NM_001270520.1:c.*868G>A, NM_001270520.1:c.*868G>T, NM_014992.2:c.*868G>A, NM_014992.2:c.*868G>T, XM_005267430.3:c.*868G>A, XM_005267430.3:c.*868G>T, XM_005267430.2:c.*868G>A, XM_005267430.2:c.*868G>T, XM_005267430.1:c.*868G>A, XM_005267430.1:c.*868G>T, XM_005267431.2:c.*868G>A, XM_005267431.2:c.*868G>T, XM_005267431.1:c.*868G>A, XM_005267431.1:c.*868G>T, XM_047431135.1:c.*868G>A, XM_047431135.1:c.*868G>T

Select item 148551784717.

rs1485517847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:59320566 (GRCh38)
14:59787284 (GRCh37)
Canonical SPDI:: NC_000014.9:59320565:T:G
Gene:: DAAM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.59320566T>G, NC_000014.8:g.59787284T>G, NG_047127.1:g.136956T>G, NM_001270520.2:c.422T>G, NM_001270520.1:c.422T>G, NM_014992.2:c.422T>G, XM_005267430.3:c.422T>G, XM_005267430.2:c.422T>G, XM_005267430.1:c.422T>G, XM_005267431.2:c.422T>G, XM_005267431.1:c.422T>G, XM_047431135.1:c.422T>G, NP_001257449.1:p.Leu141Arg, NP_055807.1:p.Leu141Arg, XP_005267487.1:p.Leu141Arg, XP_005267488.1:p.Leu141Arg, XP_047287091.1:p.Leu141Arg

Select item 148531756018.

rs1485317560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:59324445 (GRCh38)
14:59791163 (GRCh37)
Canonical SPDI:: NC_000014.9:59324444:C:T
Gene:: DAAM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000014.9:g.59324445C>T, NC_000014.8:g.59791163C>T, NG_047127.1:g.140835C>T, NM_001270520.2:c.980C>T, NM_001270520.1:c.980C>T, NM_014992.2:c.980C>T, XM_005267430.3:c.980C>T, XM_005267430.2:c.980C>T, XM_005267430.1:c.980C>T, XM_005267431.2:c.980C>T, XM_005267431.1:c.980C>T, XM_047431135.1:c.980C>T, NP_001257449.1:p.Thr327Ile, NP_055807.1:p.Thr327Ile, XP_005267487.1:p.Thr327Ile, XP_005267488.1:p.Thr327Ile, XP_047287091.1:p.Thr327Ile

Select item 148488235819.

rs1484882358 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAGAAACAAACA>- [Show Flanks]
Chromosome:: 14:59369231 (GRCh38)
14:59835949 (GRCh37)
Canonical SPDI:: NC_000014.9:59369225:AAACAGAAGAAACAAACA:AAACA
Gene:: DAAM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.59369231_59369243del, NC_000014.8:g.59835949_59835961del, NG_047127.1:g.185621_185633del, NM_001270520.2:c.*372_*384del, NM_001270520.1:c.*372_*384del, NM_014992.2:c.*372_*384del, XM_005267430.3:c.*372_*384del, XM_005267430.2:c.*372_*384del, XM_005267430.1:c.*372_*384del, XM_005267431.2:c.*372_*384del, XM_005267431.1:c.*372_*384del, XM_047431135.1:c.*372_*384del

Select item 148453523620.

rs1484535236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:59352594 (GRCh38)
14:59819312 (GRCh37)
Canonical SPDI:: NC_000014.9:59352593:G:A
Gene:: DAAM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.59352594G>A, NC_000014.8:g.59819312G>A, NG_047127.1:g.168984G>A, NM_001270520.2:c.2229G>A, NM_001270520.1:c.2229G>A, NM_014992.2:c.2259G>A, XM_005267430.3:c.2259G>A, XM_005267430.2:c.2259G>A, XM_005267430.1:c.2259G>A, XM_005267431.2:c.2259G>A, XM_005267431.1:c.2259G>A, XM_047431135.1:c.2229G>A

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 1660

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity