SNP Links for Gene (Select 283537) - SNP

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Select item 14915223331.

rs1491522333 has merged into rs10594317 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:28715989 (GRCh38)
13:29290126 (GRCh37)
Canonical SPDI:: NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC46A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.1713/858 (1000Genomes)
HGVS:: NC_000013.11:g.28715989_28715996del, NC_000013.11:g.28715990_28715996del, NC_000013.11:g.28715991_28715996del, NC_000013.11:g.28715993_28715996del, NC_000013.11:g.28715994_28715996del, NC_000013.11:g.28715995_28715996del, NC_000013.11:g.28715996del, NC_000013.11:g.28715996dup, NC_000013.11:g.28715995_28715996dup, NC_000013.11:g.28715994_28715996dup, NC_000013.11:g.28715993_28715996dup, NC_000013.11:g.28715989_28715996dup, NC_000013.10:g.29290126_29290133del, NC_000013.10:g.29290127_29290133del, NC_000013.10:g.29290128_29290133del, NC_000013.10:g.29290130_29290133del, NC_000013.10:g.29290131_29290133del, NC_000013.10:g.29290132_29290133del, NC_000013.10:g.29290133del, NC_000013.10:g.29290133dup, NC_000013.10:g.29290132_29290133dup, NC_000013.10:g.29290131_29290133dup, NC_000013.10:g.29290130_29290133dup, NC_000013.10:g.29290126_29290133dup, NG_053189.1:g.8028_8035del, NG_053189.1:g.8029_8035del, NG_053189.1:g.8030_8035del, NG_053189.1:g.8032_8035del, NG_053189.1:g.8033_8035del, NG_053189.1:g.8034_8035del, NG_053189.1:g.8035del, NG_053189.1:g.8035dup, NG_053189.1:g.8034_8035dup, NG_053189.1:g.8033_8035dup, NG_053189.1:g.8032_8035dup, NG_053189.1:g.8028_8035dup

Select item 14915161472.

rs1491516147 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:28717485 (GRCh38)
13:29291622 (GRCh37)
Canonical SPDI:: NC_000013.11:28717484:CT:
Gene:: SLC46A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
-=0.00038/34 (GnomAD)
HGVS:: NC_000013.11:g.28717485_28717486del, NC_000013.10:g.29291622_29291623del, NG_053189.1:g.6528_6529del

Select item 14915111373.

rs1491511137 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 13:28716990 (GRCh38)
13:29291128 (GRCh37)
Canonical SPDI:: NC_000013.11:28716990::AA
Gene:: SLC46A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000013.11:g.28716990_28716991insAA, NC_000013.10:g.29291127_29291128insAA, NG_053189.1:g.7023_7024insTT

Select item 14914313604.

rs1491431360 [Homo sapiens]

Variant type:: SNV:
Alleles:: GG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14914221925.

rs1491422192 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:28715978 (GRCh38)
13:29290115 (GRCh37)
Canonical SPDI:: NC_000013.11:28715976:ACA:A
Gene:: SLC46A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00067/8 (ALFA)
HGVS:: NC_000013.11:g.28715978_28715979del, NC_000013.10:g.29290115_29290116del, NG_053189.1:g.8036_8037del

Select item 14912368976.

rs1491236897 has merged into rs56878379 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:28717500 (GRCh38)
13:29291637 (GRCh37)
Canonical SPDI:: NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:28717485:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC46A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4844/279 (NorthernSweden)
HGVS:: NC_000013.11:g.28717500_28717510del, NC_000013.11:g.28717501_28717510del, NC_000013.11:g.28717502_28717510del, NC_000013.11:g.28717503_28717510del, NC_000013.11:g.28717504_28717510del, NC_000013.11:g.28717505_28717510del, NC_000013.11:g.28717506_28717510del, NC_000013.11:g.28717507_28717510del, NC_000013.11:g.28717509_28717510del, NC_000013.11:g.28717510del, NC_000013.11:g.28717510dup, NC_000013.11:g.28717509_28717510dup, NC_000013.11:g.28717505_28717510dup, NC_000013.11:g.28717504_28717510dup, NC_000013.11:g.28717503_28717510dup, NC_000013.11:g.28717498_28717510dup, NC_000013.11:g.28717510_28717511insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.28717510_28717511insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.29291637_29291647del, NC_000013.10:g.29291638_29291647del, NC_000013.10:g.29291639_29291647del, NC_000013.10:g.29291640_29291647del, NC_000013.10:g.29291641_29291647del, NC_000013.10:g.29291642_29291647del, NC_000013.10:g.29291643_29291647del, NC_000013.10:g.29291644_29291647del, NC_000013.10:g.29291646_29291647del, NC_000013.10:g.29291647del, NC_000013.10:g.29291647dup, NC_000013.10:g.29291646_29291647dup, NC_000013.10:g.29291642_29291647dup, NC_000013.10:g.29291641_29291647dup, NC_000013.10:g.29291640_29291647dup, NC_000013.10:g.29291635_29291647dup, NC_000013.10:g.29291647_29291648insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.29291647_29291648insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053189.1:g.6518_6528del, NG_053189.1:g.6519_6528del, NG_053189.1:g.6520_6528del, NG_053189.1:g.6521_6528del, NG_053189.1:g.6522_6528del, NG_053189.1:g.6523_6528del, NG_053189.1:g.6524_6528del, NG_053189.1:g.6525_6528del, NG_053189.1:g.6527_6528del, NG_053189.1:g.6528del, NG_053189.1:g.6528dup, NG_053189.1:g.6527_6528dup, NG_053189.1:g.6523_6528dup, NG_053189.1:g.6522_6528dup, NG_053189.1:g.6521_6528dup, NG_053189.1:g.6516_6528dup, NG_053189.1:g.6528_6529insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_053189.1:g.6528_6529insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911452807.

rs1491145280 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:28715977 (GRCh38)
13:29290115 (GRCh37)
Canonical SPDI:: NC_000013.11:28715977:C:CC
Gene:: SLC46A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000025/1 (GnomAD)
HGVS:: NC_000013.11:g.28715978dup, NC_000013.10:g.29290115dup, NG_053189.1:g.8036dup

Select item 14909893068.

rs1490989306 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 13:28711859 (GRCh38)
13:29285996 (GRCh37)
Canonical SPDI:: NC_000013.11:28711858:A:
Gene:: SLC46A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000094/25 (TOPMED)
HGVS:: NC_000013.11:g.28711859del, NC_000013.10:g.29285996del, NG_053189.1:g.12155del

Select item 14905033959.

rs1490503395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:28711409 (GRCh38)
13:29285546 (GRCh37)
Canonical SPDI:: NC_000013.11:28711408:T:C
Gene:: SLC46A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.28711409T>C, NC_000013.10:g.29285546T>C, NG_053189.1:g.12605A>G

Select item 149020699710.

rs1490206997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:28705141 (GRCh38)
13:29279278 (GRCh37)
Canonical SPDI:: NC_000013.11:28705140:T:G
Gene:: SLC46A3 (Varview), LOC124903143 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.28705141T>G, NC_000013.10:g.29279278T>G, NG_053189.1:g.18873A>C

Select item 148961967411.

rs1489619674 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:28714132 (GRCh38)
13:29288270 (GRCh37)
Canonical SPDI:: NC_000013.11:28714132:AAAAAA:AAAAAAA
Gene:: SLC46A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.28714138dup, NC_000013.10:g.29288275dup, NG_053189.1:g.9881dup

Select item 148961930912.

rs1489619309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:28704565 (GRCh38)
13:29278702 (GRCh37)
Canonical SPDI:: NC_000013.11:28704564:G:A
Gene:: SLC46A3 (Varview), LOC124903143 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.28704565G>A, NC_000013.10:g.29278702G>A, NG_053189.1:g.19449C>T, XR_007063738.1:n.544G>A

Select item 148952842913.

rs1489528429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:28707143 (GRCh38)
13:29281280 (GRCh37)
Canonical SPDI:: NC_000013.11:28707142:A:G
Gene:: SLC46A3 (Varview), LOC124903143 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.28707143A>G, NC_000013.10:g.29281280A>G, NG_053189.1:g.16871T>C, XR_007063738.1:n.1091A>G

Select item 148946790114.

rs1489467901 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:28709089 (GRCh38)
13:29283226 (GRCh37)
Canonical SPDI:: NC_000013.11:28709088:A:C
Gene:: SLC46A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.28709089A>C, NC_000013.10:g.29283226A>C, NG_053189.1:g.14925T>G

Select item 148927166215.

rs1489271662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:28713015 (GRCh38)
13:29287152 (GRCh37)
Canonical SPDI:: NC_000013.11:28713014:A:C
Gene:: SLC46A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.28713015A>C, NC_000013.10:g.29287152A>C, NG_053189.1:g.10999T>G, NM_181785.4:c.725T>G, NM_181785.3:c.725T>G, NM_001347960.2:c.725T>G, NM_001347960.1:c.725T>G, NM_001135919.2:c.725T>G, NM_001135919.1:c.725T>G, XM_005266361.3:c.725T>G, XM_005266361.2:c.725T>G, XM_005266361.1:c.725T>G, NP_861450.1:p.Phe242Cys, NP_001334889.1:p.Phe242Cys, NP_001129391.1:p.Phe242Cys, XP_005266418.1:p.Phe242Cys

Select item 148916943216.

rs1489169432 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 13:28717873 (GRCh38)
13:29292010 (GRCh37)
Canonical SPDI:: NC_000013.11:28717872:T:
Gene:: SLC46A3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.28717873del, NC_000013.10:g.29292010del, NG_053189.1:g.6141del, NM_181785.4:c.126del, NM_181785.3:c.126del, NM_001347960.2:c.126del, NM_001347960.1:c.126del, NM_001135919.2:c.126del, NM_001135919.1:c.126del, XM_005266361.3:c.126del, XM_005266361.2:c.126del, XM_005266361.1:c.126del, NP_861450.1:p.Ser43fs, NP_001334889.1:p.Ser43fs, NP_001129391.1:p.Ser43fs, XP_005266418.1:p.Ser43fs

Select item 148855974517.

rs1488559745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:28718788 (GRCh38)
13:29292925 (GRCh37)
Canonical SPDI:: NC_000013.11:28718787:C:G,NC_000013.11:28718787:C:T
Gene:: SLC46A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0./0 (KOREAN)
T=0.000043/6 (GnomAD)
T=0.000098/26 (TOPMED)
T=0.000468/3 (1000Genomes)
HGVS:: NC_000013.11:g.28718788C>G, NC_000013.11:g.28718788C>T, NC_000013.10:g.29292925C>G, NC_000013.10:g.29292925C>T, NG_053189.1:g.5226G>C, NG_053189.1:g.5226G>A, NM_181785.4:c.-317G>C, NM_181785.4:c.-317G>A, NM_181785.3:c.-317G>C, NM_181785.3:c.-317G>A, NM_001347960.2:c.-71G>C, NM_001347960.2:c.-71G>A, NM_001347960.1:c.-71G>C, NM_001347960.1:c.-71G>A, NM_001135919.2:c.-317G>C, NM_001135919.2:c.-317G>A, NM_001135919.1:c.-317G>C, NM_001135919.1:c.-317G>A, XM_005266361.3:c.-71G>C, XM_005266361.3:c.-71G>A, XM_005266361.2:c.-71G>C, XM_005266361.2:c.-71G>A, XM_005266361.1:c.-71G>C, XM_005266361.1:c.-71G>A

Select item 148819298318.

rs1488192983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:28719392 (GRCh38)
13:29293529 (GRCh37)
Canonical SPDI:: NC_000013.11:28719391:G:T
Gene:: SLC46A3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000212/6 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000013.11:g.28719392G>T, NC_000013.10:g.29293529G>T, NG_053189.1:g.4622C>A

Select item 148816951419.

rs1488169514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:28714651 (GRCh38)
13:29288788 (GRCh37)
Canonical SPDI:: NC_000013.11:28714650:A:G
Gene:: SLC46A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.28714651A>G, NC_000013.10:g.29288788A>G, NG_053189.1:g.9363T>C

Select item 148812137820.

rs1488121378 has merged into rs10594317 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:28715989 (GRCh38)
13:29290126 (GRCh37)
Canonical SPDI:: NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:28715978:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC46A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.1713/858 (1000Genomes)
HGVS:: NC_000013.11:g.28715989_28715996del, NC_000013.11:g.28715990_28715996del, NC_000013.11:g.28715991_28715996del, NC_000013.11:g.28715993_28715996del, NC_000013.11:g.28715994_28715996del, NC_000013.11:g.28715995_28715996del, NC_000013.11:g.28715996del, NC_000013.11:g.28715996dup, NC_000013.11:g.28715995_28715996dup, NC_000013.11:g.28715994_28715996dup, NC_000013.11:g.28715993_28715996dup, NC_000013.11:g.28715989_28715996dup, NC_000013.10:g.29290126_29290133del, NC_000013.10:g.29290127_29290133del, NC_000013.10:g.29290128_29290133del, NC_000013.10:g.29290130_29290133del, NC_000013.10:g.29290131_29290133del, NC_000013.10:g.29290132_29290133del, NC_000013.10:g.29290133del, NC_000013.10:g.29290133dup, NC_000013.10:g.29290132_29290133dup, NC_000013.10:g.29290131_29290133dup, NC_000013.10:g.29290130_29290133dup, NC_000013.10:g.29290126_29290133dup, NG_053189.1:g.8028_8035del, NG_053189.1:g.8029_8035del, NG_053189.1:g.8030_8035del, NG_053189.1:g.8032_8035del, NG_053189.1:g.8033_8035del, NG_053189.1:g.8034_8035del, NG_053189.1:g.8035del, NG_053189.1:g.8035dup, NG_053189.1:g.8034_8035dup, NG_053189.1:g.8033_8035dup, NG_053189.1:g.8032_8035dup, NG_053189.1:g.8028_8035dup

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