SNP Links for Gene (Select 93622) - SNP

Links from Gene

Items: 1 to 20 of 1648

<< First< Prev

Page of 83

Next >Last >>

Select item 14914633131.

rs1491463313 has merged into rs11286035 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGCGGGGGGGGG,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGAGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGAATGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGAGGGGAGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGCGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGTGCGGGGGTGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 4:6673927 (GRCh38)
4:6675654 (GRCh37)
Canonical SPDI:: NC_000004.12:6673921:GGGGGGG:GGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGCGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGAATGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGAGGGGAGGGGGGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGGCGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000004.12:6673921:GGGGGGG:GGGGGGGGGGGGGGGGGTGCGGGGGTGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGG=0./0 (ALFA)
G=0.2091/1047 (1000Genomes)
HGVS:: NC_000004.12:g.6673927_6673928del, NC_000004.12:g.6673928del, NC_000004.12:g.6673922_6673928G[7]CGGGGGGGGG[1], NC_000004.12:g.6673928dup, NC_000004.12:g.6673927_6673928dup, NC_000004.12:g.6673926_6673928dup, NC_000004.12:g.6673925_6673928dup, NC_000004.12:g.6673924_6673928dup, NC_000004.12:g.6673923_6673928dup, NC_000004.12:g.6673922_6673928dup, NC_000004.12:g.6673922_6673928G[14]AGGGGGGGGGGGGGGGGGGGGG[1], NC_000004.12:g.6673928_6673929insGGGGGGGG, NC_000004.12:g.6673922_6673928G[15]AATGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000004.12:g.6673922_6673928G[15]AGGGG[2]G[18], NC_000004.12:g.6673928_6673929insGGGGGGGGG, NC_000004.12:g.6673928_6673929insGGGGGGGGGG, NC_000004.12:g.6673922_6673928G[17]CGGGGGGGGGG[1], NC_000004.12:g.6673928_6673929insGGGGGGGGGGG, NC_000004.12:g.6673922_6673928G[18]AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000004.12:g.6673928_6673929insGGGGGGGGGGGG, NC_000004.12:g.6673928_6673929insGGGGGGGGGGGGGG, NC_000004.12:g.6673928_6673929insGGGGGGGGGGGGGGG, NC_000004.12:g.6673928_6673929insGGGGGGGGGGGGGGGG, NC_000004.12:g.6673928_6673929insGGGGGGGGGGGGGGGGGGG, NC_000004.12:g.6673928_6673929insGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000004.12:g.6673928_6673929insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000004.12:g.6673928_6673929insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000004.12:g.6673922_6673928G[17]TGCGGGGGTGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000004.11:g.6675654_6675655del, NC_000004.11:g.6675655del, NC_000004.11:g.6675649_6675655G[7]CGGGGGGGGG[1], NC_000004.11:g.6675655dup, NC_000004.11:g.6675654_6675655dup, NC_000004.11:g.6675653_6675655dup, NC_000004.11:g.6675652_6675655dup, NC_000004.11:g.6675651_6675655dup, NC_000004.11:g.6675650_6675655dup, NC_000004.11:g.6675649_6675655dup, NC_000004.11:g.6675649_6675655G[14]AGGGGGGGGGGGGGGGGGGGGG[1], NC_000004.11:g.6675655_6675656insGGGGGGGG, NC_000004.11:g.6675649_6675655G[15]AATGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000004.11:g.6675649_6675655G[15]AGGGG[2]G[18], NC_000004.11:g.6675655_6675656insGGGGGGGGG, NC_000004.11:g.6675655_6675656insGGGGGGGGGG, NC_000004.11:g.6675649_6675655G[17]CGGGGGGGGGG[1], NC_000004.11:g.6675655_6675656insGGGGGGGGGGG, NC_000004.11:g.6675649_6675655G[18]AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000004.11:g.6675655_6675656insGGGGGGGGGGGG, NC_000004.11:g.6675655_6675656insGGGGGGGGGGGGGG, NC_000004.11:g.6675655_6675656insGGGGGGGGGGGGGGG, NC_000004.11:g.6675655_6675656insGGGGGGGGGGGGGGGG, NC_000004.11:g.6675655_6675656insGGGGGGGGGGGGGGGGGGG, NC_000004.11:g.6675655_6675656insGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000004.11:g.6675655_6675656insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000004.11:g.6675655_6675656insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000004.11:g.6675649_6675655G[17]TGCGGGGGTGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1]

Select item 14902296602.

rs1490229660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:6674373 (GRCh38)
4:6676100 (GRCh37)
Canonical SPDI:: NC_000004.12:6674372:G:A,NC_000004.12:6674372:G:C
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.6674373G>A, NC_000004.12:g.6674373G>C, NC_000004.11:g.6676100G>A, NC_000004.11:g.6676100G>C, NM_138699.3:c.161G>A, NM_138699.3:c.161G>C, NM_138699.2:c.161G>A, NM_138699.2:c.161G>C, NM_138699.1:c.161G>A, NM_138699.1:c.161G>C, NR_015433.2:n.299G>A, NR_015433.2:n.299G>C, XM_047416419.1:c.161G>A, XM_047416419.1:c.161G>C, NR_015433.1:n.280G>A, NR_015433.1:n.280G>C, XM_047416420.1:c.161G>A, XM_047416420.1:c.161G>C, NR_158178.1:n.299G>A, NR_158178.1:n.299G>C, NP_619644.1:p.Ser54Asn, NP_619644.1:p.Ser54Thr, XP_047272375.1:p.Ser54Asn, XP_047272375.1:p.Ser54Thr, XP_047272376.1:p.Ser54Asn, XP_047272376.1:p.Ser54Thr

Select item 14901972883.

rs1490197288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:6674872 (GRCh38)
4:6676599 (GRCh37)
Canonical SPDI:: NC_000004.12:6674871:T:C
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.6674872T>C, NC_000004.11:g.6676599T>C, NM_138699.3:c.*300T>C, NM_138699.2:c.*300T>C, NM_138699.1:c.*300T>C

Select item 14885883734.

rs1488588373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:6674453 (GRCh38)
4:6676180 (GRCh37)
Canonical SPDI:: NC_000004.12:6674452:G:A
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.6674453G>A, NC_000004.11:g.6676180G>A, NM_138699.3:c.241G>A, NM_138699.2:c.241G>A, NM_138699.1:c.241G>A, NR_015433.2:n.379G>A, XM_047416419.1:c.241G>A, NR_015433.1:n.360G>A, XM_047416420.1:c.241G>A, NR_158178.1:n.379G>A, NP_619644.1:p.Ala81Thr, XP_047272375.1:p.Ala81Thr, XP_047272376.1:p.Ala81Thr

Select item 14873999045.

rs1487399904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:6674306 (GRCh38)
4:6676033 (GRCh37)
Canonical SPDI:: NC_000004.12:6674305:G:A
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000017/1 (GnomAD_exomes)
A=0.000034/9 (TOPMED)
HGVS:: NC_000004.12:g.6674306G>A, NC_000004.11:g.6676033G>A, NM_138699.3:c.94G>A, NM_138699.2:c.94G>A, NM_138699.1:c.94G>A, NR_015433.2:n.232G>A, XM_047416419.1:c.94G>A, NR_015433.1:n.213G>A, XM_047416420.1:c.94G>A, NR_158178.1:n.232G>A, NP_619644.1:p.Ala32Thr, XP_047272375.1:p.Ala32Thr, XP_047272376.1:p.Ala32Thr

Select item 14865046886.

rs1486504688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:6672618 (GRCh38)
4:6674345 (GRCh37)
Canonical SPDI:: NC_000004.12:6672617:T:C
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.6672618T>C, NC_000004.11:g.6674345T>C

Select item 14843262257.

rs1484326225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:6675473 (GRCh38)
4:6677200 (GRCh37)
Canonical SPDI:: NC_000004.12:6675472:A:G
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.6675473A>G, NC_000004.11:g.6677200A>G, NM_138699.3:c.*901A>G, NM_138699.2:c.*901A>G, NM_138699.1:c.*901A>G, NR_015433.2:n.1113A>G, XM_047416419.1:c.*615A>G, NR_015433.1:n.1094A>G, XM_047416420.1:c.*546A>G, NR_158178.1:n.1044A>G

Select item 14841049648.

rs1484104964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6673598 (GRCh38)
4:6675325 (GRCh37)
Canonical SPDI:: NC_000004.12:6673597:C:T
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000216/4 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000043/6 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000004.12:g.6673598C>T, NC_000004.11:g.6675325C>T

Select item 14839217519.

rs1483921751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:6673608 (GRCh38)
4:6675335 (GRCh37)
Canonical SPDI:: NC_000004.12:6673607:G:A
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.6673608G>A, NC_000004.11:g.6675335G>A

Select item 148376974510.

rs1483769745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:6673116 (GRCh38)
4:6674843 (GRCh37)
Canonical SPDI:: NC_000004.12:6673115:G:A
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.6673116G>A, NC_000004.11:g.6674843G>A

Select item 148373389711.

rs1483733897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:6675167 (GRCh38)
4:6676894 (GRCh37)
Canonical SPDI:: NC_000004.12:6675166:G:A
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.6675167G>A, NC_000004.11:g.6676894G>A, NM_138699.3:c.*595G>A, NM_138699.2:c.*595G>A, NM_138699.1:c.*595G>A, NR_015433.2:n.807G>A, XM_047416419.1:c.*309G>A, NR_015433.1:n.788G>A, XM_047416420.1:c.*240G>A, NR_158178.1:n.738G>A

Select item 148340653412.

rs1483406534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:6675487 (GRCh38)
4:6677214 (GRCh37)
Canonical SPDI:: NC_000004.12:6675486:G:A
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.6675487G>A, NC_000004.11:g.6677214G>A, NM_138699.3:c.*915G>A, NM_138699.2:c.*915G>A, NM_138699.1:c.*915G>A, NR_015433.2:n.1127G>A, XM_047416419.1:c.*629G>A, NR_015433.1:n.1108G>A, XM_047416420.1:c.*560G>A, NR_158178.1:n.1058G>A

Select item 148272545613.

rs1482725456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:6675811 (GRCh38)
4:6677538 (GRCh37)
Canonical SPDI:: NC_000004.12:6675810:C:A
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.6675811C>A, NC_000004.11:g.6677538C>A, NM_138699.3:c.*1239C>A, NM_138699.2:c.*1239C>A, NM_138699.1:c.*1239C>A, NR_015433.2:n.1451C>A, XM_047416419.1:c.*953C>A, NR_015433.1:n.1432C>A, XM_047416420.1:c.*884C>A, NR_158178.1:n.1382C>A

Select item 148266177314.

rs1482661773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:6676371 (GRCh38)
4:6678098 (GRCh37)
Canonical SPDI:: NC_000004.12:6676370:G:C
Gene:: LOC93622 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000004.12:g.6676371G>C, NC_000004.11:g.6678098G>C

Select item 148265767215.

rs1482657672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:6672745 (GRCh38)
4:6674472 (GRCh37)
Canonical SPDI:: NC_000004.12:6672744:G:A,NC_000004.12:6672744:G:C,NC_000004.12:6672744:G:T
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000086/12 (GnomAD)
HGVS:: NC_000004.12:g.6672745G>A, NC_000004.12:g.6672745G>C, NC_000004.12:g.6672745G>T, NC_000004.11:g.6674472G>A, NC_000004.11:g.6674472G>C, NC_000004.11:g.6674472G>T

Select item 148222425216.

rs1482224252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6672507 (GRCh38)
4:6674234 (GRCh37)
Canonical SPDI:: NC_000004.12:6672506:C:T
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.6672507C>T, NC_000004.11:g.6674234C>T

Select item 148188958917.

rs1481889589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:6674415 (GRCh38)
4:6676142 (GRCh37)
Canonical SPDI:: NC_000004.12:6674414:G:A,NC_000004.12:6674414:G:C,NC_000004.12:6674414:G:T
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.6674415G>A, NC_000004.12:g.6674415G>C, NC_000004.12:g.6674415G>T, NC_000004.11:g.6676142G>A, NC_000004.11:g.6676142G>C, NC_000004.11:g.6676142G>T, NM_138699.3:c.203G>A, NM_138699.3:c.203G>C, NM_138699.3:c.203G>T, NM_138699.2:c.203G>A, NM_138699.2:c.203G>C, NM_138699.2:c.203G>T, NM_138699.1:c.203G>A, NM_138699.1:c.203G>C, NM_138699.1:c.203G>T, NR_015433.2:n.341G>A, NR_015433.2:n.341G>C, NR_015433.2:n.341G>T, XM_047416419.1:c.203G>A, XM_047416419.1:c.203G>C, XM_047416419.1:c.203G>T, NR_015433.1:n.322G>A, NR_015433.1:n.322G>C, NR_015433.1:n.322G>T, XM_047416420.1:c.203G>A, XM_047416420.1:c.203G>C, XM_047416420.1:c.203G>T, NR_158178.1:n.341G>A, NR_158178.1:n.341G>C, NR_158178.1:n.341G>T, NP_619644.1:p.Arg68Gln, NP_619644.1:p.Arg68Pro, NP_619644.1:p.Arg68Leu, XP_047272375.1:p.Arg68Gln, XP_047272375.1:p.Arg68Pro, XP_047272375.1:p.Arg68Leu, XP_047272376.1:p.Arg68Gln, XP_047272376.1:p.Arg68Pro, XP_047272376.1:p.Arg68Leu

Select item 148177368018.

rs1481773680 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:6675901 (GRCh38)
4:6677628 (GRCh37)
Canonical SPDI:: NC_000004.12:6675900:A:G
Gene:: LOC93622 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.6675901A>G, NC_000004.11:g.6677628A>G, NM_138699.3:c.*1329A>G, NM_138699.2:c.*1329A>G, NM_138699.1:c.*1329A>G, NR_015433.2:n.1541A>G, XM_047416419.1:c.*1043A>G, NR_015433.1:n.1522A>G, XM_047416420.1:c.*974A>G, NR_158178.1:n.1472A>G

Select item 148150679619.

rs1481506796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:6672632 (GRCh38)
4:6674359 (GRCh37)
Canonical SPDI:: NC_000004.12:6672631:G:A
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.6672632G>A, NC_000004.11:g.6674359G>A

Select item 148083533720.

rs1480835337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:6672606 (GRCh38)
4:6674333 (GRCh37)
Canonical SPDI:: NC_000004.12:6672605:G:T
Gene:: LOC93622 (Varview), LINC02482 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.6672606G>T, NC_000004.11:g.6674333G>T

<< First< Prev

Page of 83

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1648

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity