SNP Links for Gene (Select 57407) - SNP

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Select item 14914901571.

rs1491490157 has merged into rs71139633 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 16:4461566 (GRCh38)
16:4511567 (GRCh37)
Canonical SPDI:: NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: NMRAL1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
C=0.39876/1997 (1000Genomes)
HGVS:: NC_000016.10:g.4461566_4461568del, NC_000016.10:g.4461567_4461568del, NC_000016.10:g.4461568del, NC_000016.10:g.4461568dup, NC_000016.10:g.4461567_4461568dup, NC_000016.10:g.4461566_4461568dup, NC_000016.10:g.4461564_4461568dup, NC_000016.10:g.4461563_4461568dup, NC_000016.10:g.4461562_4461568dup, NC_000016.10:g.4461561_4461568dup, NC_000016.10:g.4461560_4461568dup, NC_000016.10:g.4461559_4461568dup, NC_000016.10:g.4461558_4461568dup, NC_000016.10:g.4461568_4461569insCCCCCCCCCCCCC, NC_000016.10:g.4461568_4461569insCCCCCCCCCCCCCC, NC_000016.9:g.4511567_4511569del, NC_000016.9:g.4511568_4511569del, NC_000016.9:g.4511569del, NC_000016.9:g.4511569dup, NC_000016.9:g.4511568_4511569dup, NC_000016.9:g.4511567_4511569dup, NC_000016.9:g.4511565_4511569dup, NC_000016.9:g.4511564_4511569dup, NC_000016.9:g.4511563_4511569dup, NC_000016.9:g.4511562_4511569dup, NC_000016.9:g.4511561_4511569dup, NC_000016.9:g.4511560_4511569dup, NC_000016.9:g.4511559_4511569dup, NC_000016.9:g.4511569_4511570insCCCCCCCCCCCCC, NC_000016.9:g.4511569_4511570insCCCCCCCCCCCCCC, NT_187608.1:g.163889_163891del, NT_187608.1:g.163890_163891del, NT_187608.1:g.163891del, NT_187608.1:g.163891dup, NT_187608.1:g.163890_163891dup, NT_187608.1:g.163889_163891dup, NT_187608.1:g.163887_163891dup, NT_187608.1:g.163886_163891dup, NT_187608.1:g.163885_163891dup, NT_187608.1:g.163884_163891dup, NT_187608.1:g.163883_163891dup, NT_187608.1:g.163882_163891dup, NT_187608.1:g.163881_163891dup, NT_187608.1:g.163891_163892insCCCCCCCCCCCCC, NT_187608.1:g.163891_163892insCCCCCCCCCCCCCC

Select item 14913519772.

rs1491351977 has merged into rs71139633 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 16:4461566 (GRCh38)
16:4511567 (GRCh37)
Canonical SPDI:: NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:4461556:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: NMRAL1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
C=0.39876/1997 (1000Genomes)
HGVS:: NC_000016.10:g.4461566_4461568del, NC_000016.10:g.4461567_4461568del, NC_000016.10:g.4461568del, NC_000016.10:g.4461568dup, NC_000016.10:g.4461567_4461568dup, NC_000016.10:g.4461566_4461568dup, NC_000016.10:g.4461564_4461568dup, NC_000016.10:g.4461563_4461568dup, NC_000016.10:g.4461562_4461568dup, NC_000016.10:g.4461561_4461568dup, NC_000016.10:g.4461560_4461568dup, NC_000016.10:g.4461559_4461568dup, NC_000016.10:g.4461558_4461568dup, NC_000016.10:g.4461568_4461569insCCCCCCCCCCCCC, NC_000016.10:g.4461568_4461569insCCCCCCCCCCCCCC, NC_000016.9:g.4511567_4511569del, NC_000016.9:g.4511568_4511569del, NC_000016.9:g.4511569del, NC_000016.9:g.4511569dup, NC_000016.9:g.4511568_4511569dup, NC_000016.9:g.4511567_4511569dup, NC_000016.9:g.4511565_4511569dup, NC_000016.9:g.4511564_4511569dup, NC_000016.9:g.4511563_4511569dup, NC_000016.9:g.4511562_4511569dup, NC_000016.9:g.4511561_4511569dup, NC_000016.9:g.4511560_4511569dup, NC_000016.9:g.4511559_4511569dup, NC_000016.9:g.4511569_4511570insCCCCCCCCCCCCC, NC_000016.9:g.4511569_4511570insCCCCCCCCCCCCCC, NT_187608.1:g.163889_163891del, NT_187608.1:g.163890_163891del, NT_187608.1:g.163891del, NT_187608.1:g.163891dup, NT_187608.1:g.163890_163891dup, NT_187608.1:g.163889_163891dup, NT_187608.1:g.163887_163891dup, NT_187608.1:g.163886_163891dup, NT_187608.1:g.163885_163891dup, NT_187608.1:g.163884_163891dup, NT_187608.1:g.163883_163891dup, NT_187608.1:g.163882_163891dup, NT_187608.1:g.163881_163891dup, NT_187608.1:g.163891_163892insCCCCCCCCCCCCC, NT_187608.1:g.163891_163892insCCCCCCCCCCCCCC

Select item 14913229423.

rs1491322942 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 16:4461569 (GRCh38)
16:4511570 (GRCh37)
Canonical SPDI:: NC_000016.10:4461567:CGC:C
Gene:: NMRAL1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
-=0.00003/4 (GnomAD)
HGVS:: NC_000016.10:g.4461569_4461570del, NC_000016.9:g.4511570_4511571del, NT_187608.1:g.163892_163893del

Select item 14912565134.

rs1491256513 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 16:4461557 (GRCh38)
16:4511559 (GRCh37)
Canonical SPDI:: NC_000016.10:4461557::A,NC_000016.10:4461557::G
Gene:: NMRAL1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00002/1 (GnomAD)
HGVS:: NC_000016.10:g.4461557_4461558insA, NC_000016.10:g.4461557_4461558insG, NC_000016.9:g.4511558_4511559insA, NC_000016.9:g.4511558_4511559insG, NT_187608.1:g.163880_163881insA, NT_187608.1:g.163880_163881insG

Select item 14909545325.

rs1490954532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4463698 (GRCh38)
16:4513699 (GRCh37)
Canonical SPDI:: NC_000016.10:4463697:G:A
Gene:: NMRAL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4463698G>A, NC_000016.9:g.4513699G>A, NT_187608.1:g.166021G>A, NM_020677.6:c.682C>T, NM_020677.5:c.682C>T, NM_020677.4:c.682C>T, NM_020677.3:c.682C>T, NM_001305141.3:c.682C>T, NM_001305141.2:c.682C>T, NM_001305141.1:c.682C>T, XM_017023486.3:c.682C>T, XM_017023486.2:c.790C>T, XM_017023486.1:c.790C>T, XM_017023488.3:c.682C>T, XM_017023488.2:c.682C>T, XM_017023488.1:c.682C>T, NM_001351994.2:c.682C>T, NM_001351994.1:c.682C>T, NM_001305142.3:c.682C>T, NM_001305142.2:c.682C>T, NM_001305142.1:c.682C>T, NM_001351995.2:c.493C>T, NM_001351995.1:c.493C>T, NR_147845.2:n.788C>T, NR_147845.1:n.1058C>T, XM_047434385.1:c.490C>T, XM_047434384.1:c.682C>T, XM_047434382.1:c.682C>T, XM_047434383.1:c.682C>T, XM_047434381.1:c.682C>T, NP_065728.1:p.Leu228Phe, NP_001292070.1:p.Leu228Phe, XP_016878975.2:p.Leu228Phe, XP_016878977.1:p.Leu228Phe, NP_001338923.1:p.Leu228Phe, NP_001292071.1:p.Leu228Phe, NP_001338924.1:p.Leu165Phe, XP_047290341.1:p.Leu164Phe, XP_047290340.1:p.Leu228Phe, XP_047290338.1:p.Leu228Phe, XP_047290339.1:p.Leu228Phe, XP_047290337.1:p.Leu228Phe

Select item 14908258216.

rs1490825821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:4470262 (GRCh38)
16:4520263 (GRCh37)
Canonical SPDI:: NC_000016.10:4470261:G:C
Gene:: NMRAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.4470262G>C, NC_000016.9:g.4520263G>C, NT_187608.1:g.172585G>C

Select item 14906381787.

rs1490638178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4469982 (GRCh38)
16:4519983 (GRCh37)
Canonical SPDI:: NC_000016.10:4469981:G:A
Gene:: NMRAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.4469982G>A, NC_000016.9:g.4519983G>A, NT_187608.1:g.172305G>A

Select item 14904004298.

rs1490400429 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:4464830 (GRCh38)
16:4514831 (GRCh37)
Canonical SPDI:: NC_000016.10:4464829:T:G
Gene:: NMRAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.4464830T>G, NC_000016.9:g.4514831T>G, NT_187608.1:g.167153T>G

Select item 14902685469.

rs1490268546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4465949 (GRCh38)
16:4515950 (GRCh37)
Canonical SPDI:: NC_000016.10:4465948:C:T
Gene:: NMRAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.4465949C>T, NC_000016.9:g.4515950C>T, NT_187608.1:g.168272C>T

Select item 149023371010.

rs1490233710 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:4469439 (GRCh38)
16:4519440 (GRCh37)
Canonical SPDI:: NC_000016.10:4469438:T:C
Gene:: NMRAL1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4469439T>C, NC_000016.9:g.4519440T>C, NT_187608.1:g.171762T>C, NM_020677.6:c.67A>G, NM_020677.5:c.67A>G, NM_020677.4:c.67A>G, NM_020677.3:c.67A>G, NM_001305141.3:c.67A>G, NM_001305141.2:c.67A>G, NM_001305141.1:c.67A>G, XM_017023486.3:c.67A>G, XM_017023486.2:c.175A>G, XM_017023486.1:c.175A>G, XM_017023488.3:c.67A>G, XM_017023488.2:c.67A>G, XM_017023488.1:c.67A>G, NM_001351994.2:c.67A>G, NM_001351994.1:c.67A>G, NM_001305142.3:c.67A>G, NM_001305142.2:c.67A>G, NM_001305142.1:c.67A>G, NR_147845.2:n.173A>G, NR_147845.1:n.443A>G, NM_001351996.2:c.67A>G, NM_001351996.1:c.67A>G, XM_047434386.1:c.67A>G, XM_047434385.1:c.-126A>G, XM_047434387.1:c.67A>G, XM_047434384.1:c.67A>G, XM_047434382.1:c.67A>G, XM_047434383.1:c.67A>G, XM_047434381.1:c.67A>G, NP_065728.1:p.Thr23Ala, NP_001292070.1:p.Thr23Ala, XP_016878975.2:p.Thr23Ala, XP_016878977.1:p.Thr23Ala, NP_001338923.1:p.Thr23Ala, NP_001292071.1:p.Thr23Ala, NP_001338925.1:p.Thr23Ala, XP_047290342.1:p.Thr23Ala, XP_047290343.1:p.Thr23Ala, XP_047290340.1:p.Thr23Ala, XP_047290338.1:p.Thr23Ala, XP_047290339.1:p.Thr23Ala, XP_047290337.1:p.Thr23Ala

Select item 149021754211.

rs1490217542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4465151 (GRCh38)
16:4515152 (GRCh37)
Canonical SPDI:: NC_000016.10:4465150:G:A
Gene:: NMRAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.4465151G>A, NC_000016.9:g.4515152G>A, NT_187608.1:g.167474G>A

Select item 149000564812.

rs1490005648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:4472874 (GRCh38)
16:4522875 (GRCh37)
Canonical SPDI:: NC_000016.10:4472873:A:G
Gene:: HMOX2 (Varview), NMRAL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.4472874A>G, NC_000016.9:g.4522875A>G, NT_187608.1:g.175197A>G

Select item 148933839813.

rs1489338398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:4470371 (GRCh38)
16:4520372 (GRCh37)
Canonical SPDI:: NC_000016.10:4470370:G:A,NC_000016.10:4470370:G:T
Gene:: NMRAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000184/3 (ALFA)
A=0.000015/2 (GnomAD)
A=0.000239/4 (TOMMO)
A=0.000312/2 (1000Genomes)
A=0.014031/41 (KOREAN)
HGVS:: NC_000016.10:g.4470371G>A, NC_000016.10:g.4470371G>T, NC_000016.9:g.4520372G>A, NC_000016.9:g.4520372G>T, NT_187608.1:g.172694G>A, NT_187608.1:g.172694G>T

Select item 148918849414.

rs1489188494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4464708 (GRCh38)
16:4514709 (GRCh37)
Canonical SPDI:: NC_000016.10:4464707:G:A
Gene:: NMRAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000035/1 (TOMMO)
A=0.000051/7 (GnomAD)
A=0.000072/19 (TOPMED)
HGVS:: NC_000016.10:g.4464708G>A, NC_000016.9:g.4514709G>A, NT_187608.1:g.167031G>A

Select item 148915744415.

rs1489157444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:4476932 (GRCh38)
16:4526933 (GRCh37)
Canonical SPDI:: NC_000016.10:4476931:T:C
Gene:: HMOX2 (Varview), NMRAL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.4476932T>C, NC_000016.9:g.4526933T>C, NT_187608.1:g.179255T>C

Select item 148900829016.

rs1489008290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4465539 (GRCh38)
16:4515540 (GRCh37)
Canonical SPDI:: NC_000016.10:4465538:C:T
Gene:: NMRAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.4465539C>T, NC_000016.9:g.4515540C>T, NT_187608.1:g.167862C>T

Select item 148889919917.

rs1488899199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:4468588 (GRCh38)
16:4518589 (GRCh37)
Canonical SPDI:: NC_000016.10:4468587:C:A
Gene:: NMRAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000016.10:g.4468588C>A, NC_000016.9:g.4518589C>A, NT_187608.1:g.170911C>A

Select item 148868416118.

rs1488684161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:4465550 (GRCh38)
16:4515551 (GRCh37)
Canonical SPDI:: NC_000016.10:4465549:T:A
Gene:: NMRAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.4465550T>A, NC_000016.9:g.4515551T>A, NT_187608.1:g.167873T>A

Select item 148801946719.

rs1488019467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4462886 (GRCh38)
16:4512887 (GRCh37)
Canonical SPDI:: NC_000016.10:4462885:C:T
Gene:: NMRAL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.4462886C>T, NC_000016.9:g.4512887C>T, NT_187608.1:g.165209C>T

Select item 148801509120.

rs1488015091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4476925 (GRCh38)
16:4526926 (GRCh37)
Canonical SPDI:: NC_000016.10:4476924:C:T
Gene:: HMOX2 (Varview), NMRAL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.4476925C>T, NC_000016.9:g.4526926C>T, NT_187608.1:g.179248C>T

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