SNP Links for Nucleotide (Select 237858793) - SNP

Links from Nucleotide

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Select item 14915744941.

rs1491574494 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:56374352 (GRCh38)
20:54949409 (GRCh37)
Canonical SPDI:: NC_000020.11:56374352:G:GG
Gene:: AURKA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000285/4 (ALFA)
G=0.00006/16 (TOPMED)
G=0.000072/10 (GnomAD)
HGVS:: NC_000020.11:g.56374353dup, NC_000020.10:g.54949409dup, NG_012133.1:g.22943dup

Select item 14915448982.

rs1491544898 has merged into rs1267606855 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACA>-,CA,CACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 20:56393141 (GRCh38)
20:54968197 (GRCh37)
Canonical SPDI:: NC_000020.11:56393131:ACACACACACACACA:ACACACACA,NC_000020.11:56393131:ACACACACACACACA:ACACACACACA,NC_000020.11:56393131:ACACACACACACACA:ACACACACACACA,NC_000020.11:56393131:ACACACACACACACA:ACACACACACACACACA,NC_000020.11:56393131:ACACACACACACACA:ACACACACACACACACACA
Gene:: CSTF1 (Varview), AURKA (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACA=0./0 (ALFA)
AC=0.03821/70 (Korea1K)
HGVS:: NC_000020.11:g.56393133CA[4], NC_000020.11:g.56393133CA[5], NC_000020.11:g.56393133CA[6], NC_000020.11:g.56393133CA[8], NC_000020.11:g.56393133CA[9], NC_000020.10:g.54968189CA[4], NC_000020.10:g.54968189CA[5], NC_000020.10:g.54968189CA[6], NC_000020.10:g.54968189CA[8], NC_000020.10:g.54968189CA[9], NG_012133.1:g.4151GT[4], NG_012133.1:g.4151GT[5], NG_012133.1:g.4151GT[6], NG_012133.1:g.4151GT[8], NG_012133.1:g.4151GT[9]

Select item 14914791923.

rs1491479192 [Homo sapiens]

Variant type:: INS
Alleles:: ->CATATG,CATATGTG,CATG [Show Flanks]
Chromosome:: 20:56393168 (GRCh38)
20:54968225 (GRCh37)
Canonical SPDI:: NC_000020.11:56393168::CATATG,NC_000020.11:56393168::CATATGTG,NC_000020.11:56393168::CATG
Gene:: CSTF1 (Varview), AURKA (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CATATGTG=0./0 (ALFA)
CATG=0.00015/15 (GnomAD)
HGVS:: NC_000020.11:g.56393168_56393169insCATATG, NC_000020.11:g.56393168_56393169insCATATGTG, NC_000020.11:g.56393168_56393169insCATG, NC_000020.10:g.54968224_54968225insCATATG, NC_000020.10:g.54968224_54968225insCATATGTG, NC_000020.10:g.54968224_54968225insCATG, NG_012133.1:g.4127_4128insCATATG, NG_012133.1:g.4127_4128insCACATATG, NG_012133.1:g.4127_4128insCATG

Select item 14914685684.

rs1491468568 has merged into rs869074687 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,CATA [Show Flanks]
Chromosome:: 20:56393167 (GRCh38)
20:54968224 (GRCh37)
Canonical SPDI:: NC_000020.11:56393167:A:AA,NC_000020.11:56393167:A:ACATA
Gene:: CSTF1 (Varview), AURKA (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACATA=0./0 (ALFA)
HGVS:: NC_000020.11:g.56393168dup, NC_000020.11:g.56393168_56393169insCATA, NC_000020.10:g.54968224dup, NC_000020.10:g.54968224_54968225insCATA, NG_012133.1:g.4128dup, NG_012133.1:g.4128_4129insATGT

Select item 14914535635.

rs1491453563 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA [Show Flanks]
Chromosome:: 20:56393147 (GRCh38)
20:54968203 (GRCh37)
Canonical SPDI:: NC_000020.11:56393145:ATATA:A,NC_000020.11:56393145:ATATA:ATA
Gene:: CSTF1 (Varview), AURKA (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ATA=0.000084/1 (ALFA)
-=0.000039/4 (GnomAD)
HGVS:: NC_000020.11:g.56393147_56393150del, NC_000020.11:g.56393147TA[1], NC_000020.10:g.54968203_54968206del, NC_000020.10:g.54968203TA[1], NG_012133.1:g.4147_4150del, NG_012133.1:g.4147AT[1]

Select item 14913999926.

rs1491399992 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 20:56379715 (GRCh38)
20:54954771 (GRCh37)
Canonical SPDI:: NC_000020.11:56379713:CAC:C
Gene:: AURKA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.56379715_56379716del, NC_000020.10:g.54954771_54954772del, NG_012133.1:g.17581_17582del

Select item 14913597027.

rs1491359702 has merged into rs776595023 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 20:56374050 (GRCh38)
20:54949107 (GRCh37)
Canonical SPDI:: NC_000020.11:56374050:AT:ATAT
Gene:: AURKA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
AT=0.000007/1 (GnomAD)
AT=0.000008/2 (TOPMED)
AT=0.000809/3 (TWINSUK)
AT=0.002335/9 (ALSPAC)
HGVS:: NC_000020.11:g.56374051_56374052dup, NC_000020.10:g.54949107_54949108dup, NG_012133.1:g.23244_23245dup

Select item 14913428828.

rs1491342882 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGAGGCGG [Show Flanks]
Chromosome:: 20:56379714 (GRCh38)
20:54954771 (GRCh37)
Canonical SPDI:: NC_000020.11:56379714::TGAGGCGG
Gene:: AURKA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGAGGCGG=0./0 (ALFA)
HGVS:: NC_000020.11:g.56379714_56379715insTGAGGCGG, NC_000020.10:g.54954770_54954771insTGAGGCGG, NG_012133.1:g.17581_17582insCCGCCTCA

Select item 14912325129.

rs1491232512 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 20:56374352 (GRCh38)
20:54949408 (GRCh37)
Canonical SPDI:: NC_000020.11:56374351:TG:
Gene:: AURKA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.56374352_56374353del, NC_000020.10:g.54949408_54949409del, NG_012133.1:g.22943_22944del

Select item 149119481410.

rs1491194814 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATG [Show Flanks]
Chromosome:: 20:56393132 (GRCh38)
20:54968189 (GRCh37)
Canonical SPDI:: NC_000020.11:56393132::TATG
Gene:: CSTF1 (Varview), AURKA (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TATG=0.000084/1 (ALFA)
TATG=0.000025/3 (GnomAD)
HGVS:: NC_000020.11:g.56393132_56393133insTATG, NC_000020.10:g.54968188_54968189insTATG, NG_012133.1:g.4163_4164insCATA

Select item 149111770111.

rs1491117701 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:56393170 (GRCh38)
20:54968226 (GRCh37)
Canonical SPDI:: NC_000020.11:56393167:ATAT:AT
Gene:: CSTF1 (Varview), AURKA (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0.00008/1 (ALFA)
-=0.00023/3 (GnomAD)
HGVS:: NC_000020.11:g.56393168AT[1], NC_000020.10:g.54968224AT[1], NG_012133.1:g.4125AT[1]

Select item 149108314212.

rs1491083142 has merged into rs150366258 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA [Show Flanks]
Chromosome:: 20:56393129 (GRCh38)
20:54968185 (GRCh37)
Canonical SPDI:: NC_000020.11:56393117:ATATATATATATATA:ATATATATATA,NC_000020.11:56393117:ATATATATATATATA:ATATATATATATA,NC_000020.11:56393117:ATATATATATATATA:ATATATATATATATATA,NC_000020.11:56393117:ATATATATATATATA:ATATATATATATATATATA,NC_000020.11:56393117:ATATATATATATATA:ATATATATATATATATATATA,NC_000020.11:56393117:ATATATATATATATA:ATATATATATATATATATATATA,NC_000020.11:56393117:ATATATATATATATA:ATATATATATATATATATATATATA,NC_000020.11:56393117:ATATATATATATATA:ATATATATATATATATATATATATATA
Gene:: CSTF1 (Varview), AURKA (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
-=0.2055/1029 (1000Genomes)
HGVS:: NC_000020.11:g.56393119TA[5], NC_000020.11:g.56393119TA[6], NC_000020.11:g.56393119TA[8], NC_000020.11:g.56393119TA[9], NC_000020.11:g.56393119TA[10], NC_000020.11:g.56393119TA[11], NC_000020.11:g.56393119TA[12], NC_000020.11:g.56393119TA[13], NC_000020.10:g.54968175TA[5], NC_000020.10:g.54968175TA[6], NC_000020.10:g.54968175TA[8], NC_000020.10:g.54968175TA[9], NC_000020.10:g.54968175TA[10], NC_000020.10:g.54968175TA[11], NC_000020.10:g.54968175TA[12], NC_000020.10:g.54968175TA[13], NG_012133.1:g.4165AT[5], NG_012133.1:g.4165AT[6], NG_012133.1:g.4165AT[8], NG_012133.1:g.4165AT[9], NG_012133.1:g.4165AT[10], NG_012133.1:g.4165AT[11], NG_012133.1:g.4165AT[12], NG_012133.1:g.4165AT[13]

Select item 149106590013.

rs1491065900 has merged into rs112721980 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 20:56390322 (GRCh38)
20:54965378 (GRCh37)
Canonical SPDI:: NC_000020.11:56390309:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:56390309:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:56390309:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:56390309:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:56390309:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:56390309:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:56390309:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: AURKA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.16494/826 (1000Genomes)
HGVS:: NC_000020.11:g.56390322_56390324del, NC_000020.11:g.56390323_56390324del, NC_000020.11:g.56390324del, NC_000020.11:g.56390324dup, NC_000020.11:g.56390323_56390324dup, NC_000020.11:g.56390322_56390324dup, NC_000020.11:g.56390321_56390324dup, NC_000020.10:g.54965378_54965380del, NC_000020.10:g.54965379_54965380del, NC_000020.10:g.54965380del, NC_000020.10:g.54965380dup, NC_000020.10:g.54965379_54965380dup, NC_000020.10:g.54965378_54965380dup, NC_000020.10:g.54965377_54965380dup, NG_012133.1:g.6984_6986del, NG_012133.1:g.6985_6986del, NG_012133.1:g.6986del, NG_012133.1:g.6986dup, NG_012133.1:g.6985_6986dup, NG_012133.1:g.6984_6986dup, NG_012133.1:g.6983_6986dup

Select item 149104770014.

rs1491047700 has merged into rs11473393 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 20:56393180 (GRCh38)
20:54968236 (GRCh37)
Canonical SPDI:: NC_000020.11:56393170:TGTGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000020.11:56393170:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000020.11:56393170:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000020.11:56393170:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56393170:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56393170:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56393170:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56393170:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CSTF1 (Varview), AURKA (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTG=0.045601/12070 (TOPMED)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000020.11:g.56393172GT[4], NC_000020.11:g.56393172GT[7], NC_000020.11:g.56393172GT[8], NC_000020.11:g.56393172GT[10], NC_000020.11:g.56393172GT[11], NC_000020.11:g.56393172GT[12], NC_000020.11:g.56393172GT[13], NC_000020.11:g.56393172GT[14], NC_000020.10:g.54968228GT[4], NC_000020.10:g.54968228GT[7], NC_000020.10:g.54968228GT[8], NC_000020.10:g.54968228GT[10], NC_000020.10:g.54968228GT[11], NC_000020.10:g.54968228GT[12], NC_000020.10:g.54968228GT[13], NC_000020.10:g.54968228GT[14], NG_012133.1:g.4108CA[4], NG_012133.1:g.4108CA[7], NG_012133.1:g.4108CA[8], NG_012133.1:g.4108CA[10], NG_012133.1:g.4108CA[11], NG_012133.1:g.4108CA[12], NG_012133.1:g.4108CA[13], NG_012133.1:g.4108CA[14]

Select item 149100408515.

rs1491004085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 20:56373500 (GRCh38)
20:54948556 (GRCh37)
Canonical SPDI:: NC_000020.11:56373499:A:G,NC_000020.11:56373499:A:T
Gene:: AURKA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.56373500A>G, NC_000020.11:g.56373500A>T, NC_000020.10:g.54948556A>G, NC_000020.10:g.54948556A>T, NG_012133.1:g.23796T>C, NG_012133.1:g.23796T>A, NM_003600.4:c.762T>C, NM_003600.4:c.762T>A, NM_003600.3:c.762T>C, NM_003600.3:c.762T>A, NM_003600.2:c.762T>C, NM_003600.2:c.762T>A, NM_198433.3:c.762T>C, NM_198433.3:c.762T>A, NM_198433.2:c.762T>C, NM_198433.2:c.762T>A, NM_198433.1:c.762T>C, NM_198433.1:c.762T>A, NM_198434.3:c.762T>C, NM_198434.3:c.762T>A, NM_198434.2:c.762T>C, NM_198434.2:c.762T>A, NM_198434.1:c.762T>C, NM_198434.1:c.762T>A, NM_198436.3:c.762T>C, NM_198436.3:c.762T>A, NM_198436.2:c.762T>C, NM_198436.2:c.762T>A, NM_198436.1:c.762T>C, NM_198436.1:c.762T>A, NM_198435.3:c.762T>C, NM_198435.3:c.762T>A, NM_198435.2:c.762T>C, NM_198435.2:c.762T>A, NM_198435.1:c.762T>C, NM_198435.1:c.762T>A, NM_198437.3:c.762T>C, NM_198437.3:c.762T>A, NM_198437.2:c.762T>C, NM_198437.2:c.762T>A, NM_198437.1:c.762T>C, NM_198437.1:c.762T>A, NM_001323303.2:c.762T>C, NM_001323303.2:c.762T>A, NM_001323303.1:c.762T>C, NM_001323303.1:c.762T>A, NM_001323305.2:c.762T>C, NM_001323305.2:c.762T>A, NM_001323305.1:c.762T>C, NM_001323305.1:c.762T>A, NM_001323304.2:c.762T>C, NM_001323304.2:c.762T>A, NM_001323304.1:c.762T>C, NM_001323304.1:c.762T>A, XM_017028034.3:c.864T>C, XM_017028034.3:c.864T>A, XM_017028034.2:c.864T>C, XM_017028034.2:c.864T>A, XM_017028034.1:c.864T>C, XM_017028034.1:c.864T>A, XM_017028035.2:c.762T>C, XM_017028035.2:c.762T>A, XM_017028035.1:c.762T>C, XM_017028035.1:c.762T>A, XM_047440428.1:c.864T>C, XM_047440428.1:c.864T>A, XM_047440427.1:c.864T>C, XM_047440427.1:c.864T>A, NM_003158.1:c.759T>C, NM_003158.1:c.759T>A, NP_003591.2:p.His254Gln, NP_940835.1:p.His254Gln, NP_940836.1:p.His254Gln, NP_940838.1:p.His254Gln, NP_940837.1:p.His254Gln, NP_940839.1:p.His254Gln, NP_001310232.1:p.His254Gln, NP_001310234.1:p.His254Gln, NP_001310233.1:p.His254Gln, XP_016883523.1:p.His288Gln, XP_016883524.1:p.His254Gln, XP_047296384.1:p.His288Gln, XP_047296383.1:p.His288Gln

Select item 149081652916.

rs1490816529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:56390007 (GRCh38)
20:54965063 (GRCh37)
Canonical SPDI:: NC_000020.11:56390006:G:A,NC_000020.11:56390006:G:C
Gene:: AURKA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.56390007G>A, NC_000020.11:g.56390007G>C, NC_000020.10:g.54965063G>A, NC_000020.10:g.54965063G>C, NG_012133.1:g.7289C>T, NG_012133.1:g.7289C>G

Select item 149079617817.

rs1490796178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:56389592 (GRCh38)
20:54964648 (GRCh37)
Canonical SPDI:: NC_000020.11:56389591:C:A,NC_000020.11:56389591:C:G
Gene:: AURKA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.56389592C>A, NC_000020.11:g.56389592C>G, NC_000020.10:g.54964648C>A, NC_000020.10:g.54964648C>G, NG_012133.1:g.7704G>T, NG_012133.1:g.7704G>C

Select item 149058622818.

rs1490586228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:56380980 (GRCh38)
20:54956036 (GRCh37)
Canonical SPDI:: NC_000020.11:56380979:C:T
Gene:: AURKA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.56380980C>T, NC_000020.10:g.54956036C>T, NG_012133.1:g.16316G>A

Select item 149034923919.

rs1490349239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:56368176 (GRCh38)
20:54943232 (GRCh37)
Canonical SPDI:: NC_000020.11:56368175:C:A
Gene:: FAM210B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000020.11:g.56368176C>A, NC_000020.10:g.54943232C>A, NG_012133.1:g.29120G>T, NM_080821.3:c.*1889C>A, NM_080821.2:c.*1889C>A

Select item 149018854720.

rs1490188547 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:56383068 (GRCh38)
20:54958124 (GRCh37)
Canonical SPDI:: NC_000020.11:56383067:A:T
Gene:: AURKA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.56383068A>T, NC_000020.10:g.54958124A>T, NG_012133.1:g.14228T>A, NM_003600.4:c.483T>A, NM_003600.3:c.483T>A, NM_003600.2:c.483T>A, NM_198433.3:c.483T>A, NM_198433.2:c.483T>A, NM_198433.1:c.483T>A, NM_198434.3:c.483T>A, NM_198434.2:c.483T>A, NM_198434.1:c.483T>A, NM_198436.3:c.483T>A, NM_198436.2:c.483T>A, NM_198436.1:c.483T>A, NM_198435.3:c.483T>A, NM_198435.2:c.483T>A, NM_198435.1:c.483T>A, NM_198437.3:c.483T>A, NM_198437.2:c.483T>A, NM_198437.1:c.483T>A, NM_001323303.2:c.483T>A, NM_001323303.1:c.483T>A, NM_001323305.2:c.483T>A, NM_001323305.1:c.483T>A, NM_001323304.2:c.483T>A, NM_001323304.1:c.483T>A, XM_017028034.3:c.585T>A, XM_017028034.2:c.585T>A, XM_017028034.1:c.585T>A, XM_017028035.2:c.483T>A, XM_017028035.1:c.483T>A, XM_047440428.1:c.585T>A, XM_047440427.1:c.585T>A, NM_003158.1:c.480T>A

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