SNP Links for Gene (Select 51124) - SNP

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Select item 14914075011.

rs1491407501 has merged into rs146375530 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 18:47164806 (GRCh38)
18:44691177 (GRCh37)
Canonical SPDI:: NC_000018.10:47164792:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000018.10:47164792:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000018.10:47164792:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000018.10:47164792:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.002/10 (1000Genomes)
-=0.00672/12 (Korea1K)
HGVS:: NC_000018.10:g.47164794GA[6], NC_000018.10:g.47164794GA[7], NC_000018.10:g.47164794GA[9], NC_000018.10:g.47164794GA[10], NC_000018.9:g.44691165GA[6], NC_000018.9:g.44691165GA[7], NC_000018.9:g.44691165GA[9], NC_000018.9:g.44691165GA[10], NG_031925.1:g.16567CT[6], NG_031925.1:g.16567CT[7], NG_031925.1:g.16567CT[9], NG_031925.1:g.16567CT[10]

Select item 14913914692.

rs1491391469 has merged into rs146375530 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 18:47164806 (GRCh38)
18:44691177 (GRCh37)
Canonical SPDI:: NC_000018.10:47164792:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000018.10:47164792:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000018.10:47164792:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000018.10:47164792:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.002/10 (1000Genomes)
-=0.00672/12 (Korea1K)
HGVS:: NC_000018.10:g.47164794GA[6], NC_000018.10:g.47164794GA[7], NC_000018.10:g.47164794GA[9], NC_000018.10:g.47164794GA[10], NC_000018.9:g.44691165GA[6], NC_000018.9:g.44691165GA[7], NC_000018.9:g.44691165GA[9], NC_000018.9:g.44691165GA[10], NG_031925.1:g.16567CT[6], NG_031925.1:g.16567CT[7], NG_031925.1:g.16567CT[9], NG_031925.1:g.16567CT[10]

Select item 14913331283.

rs1491333128 has merged into rs34039061 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTCTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTCTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTATGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:47156801 (GRCh38)
18:44683172 (GRCh37)
Canonical SPDI:: NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTCTGTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTGTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTATGTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:47156790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000018.10:g.47156801_47156810del, NC_000018.10:g.47156803_47156810del, NC_000018.10:g.47156806_47156810del, NC_000018.10:g.47156807_47156810del, NC_000018.10:g.47156808_47156810del, NC_000018.10:g.47156809_47156810del, NC_000018.10:g.47156810del, NC_000018.10:g.47156810dup, NC_000018.10:g.47156791_47156810T[21]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.47156809_47156810dup, NC_000018.10:g.47156791_47156810T[22]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.47156808_47156810dup, NC_000018.10:g.47156791_47156810T[23]CTGTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.47156807_47156810dup, NC_000018.10:g.47156791_47156810T[24]CTGTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.47156806_47156810dup, NC_000018.10:g.47156791_47156810T[25]ATGTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.47156805_47156810dup, NC_000018.10:g.47156791_47156810T[26]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.47156804_47156810dup, NC_000018.10:g.47156791_47156810T[27]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.47156791_47156810T[27]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.47156803_47156810dup, NC_000018.10:g.47156802_47156810dup, NC_000018.10:g.47156801_47156810dup, NC_000018.10:g.47156800_47156810dup, NC_000018.10:g.47156799_47156810dup, NC_000018.10:g.47156798_47156810dup, NC_000018.9:g.44683172_44683181del, NC_000018.9:g.44683174_44683181del, NC_000018.9:g.44683177_44683181del, NC_000018.9:g.44683178_44683181del, NC_000018.9:g.44683179_44683181del, NC_000018.9:g.44683180_44683181del, NC_000018.9:g.44683181del, NC_000018.9:g.44683181dup, NC_000018.9:g.44683162_44683181T[21]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.44683180_44683181dup, NC_000018.9:g.44683162_44683181T[22]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.44683179_44683181dup, NC_000018.9:g.44683162_44683181T[23]CTGTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.44683178_44683181dup, NC_000018.9:g.44683162_44683181T[24]CTGTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.44683177_44683181dup, NC_000018.9:g.44683162_44683181T[25]ATGTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.44683176_44683181dup, NC_000018.9:g.44683162_44683181T[26]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.44683175_44683181dup, NC_000018.9:g.44683162_44683181T[27]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.44683162_44683181T[27]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.44683174_44683181dup, NC_000018.9:g.44683173_44683181dup, NC_000018.9:g.44683172_44683181dup, NC_000018.9:g.44683171_44683181dup, NC_000018.9:g.44683170_44683181dup, NC_000018.9:g.44683169_44683181dup, NG_031925.1:g.24575_24584del, NG_031925.1:g.24577_24584del, NG_031925.1:g.24580_24584del, NG_031925.1:g.24581_24584del, NG_031925.1:g.24582_24584del, NG_031925.1:g.24583_24584del, NG_031925.1:g.24584del, NG_031925.1:g.24584dup, NG_031925.1:g.24565_24584A[22]CAAAAAAAAAAAAAAAAAAAAA[1], NG_031925.1:g.24583_24584dup, NG_031925.1:g.24565_24584A[21]CAAAAAAAAAAAAAAAAAAAAAA[1], NG_031925.1:g.24582_24584dup, NG_031925.1:g.24565_24584A[21]CAGAAAAAAAAAAAAAAAAAAAAAAA[1], NG_031925.1:g.24581_24584dup, NG_031925.1:g.24565_24584A[21]CAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_031925.1:g.24580_24584dup, NG_031925.1:g.24565_24584A[21]CATAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_031925.1:g.24579_24584dup, NG_031925.1:g.24565_24584A[21]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_031925.1:g.24578_24584dup, NG_031925.1:g.24565_24584A[21]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_031925.1:g.24565_24584A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_031925.1:g.24577_24584dup, NG_031925.1:g.24576_24584dup, NG_031925.1:g.24575_24584dup, NG_031925.1:g.24574_24584dup, NG_031925.1:g.24573_24584dup, NG_031925.1:g.24572_24584dup

Select item 14913325504.

rs1491332550 [Homo sapiens]

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

Select item 14908351335.

rs1490835133 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:47176287 (GRCh38)
18:44702658 (GRCh37)
Canonical SPDI:: NC_000018.10:47176286:A:C
Gene:: IER3IP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.47176287A>C, NC_000018.9:g.44702658A>C, NG_031925.1:g.5088T>G, NM_016097.4:c.-10T>G, NM_016097.5:c.-10T>G

Select item 14907099796.

rs1490709979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:47159772 (GRCh38)
18:44686143 (GRCh37)
Canonical SPDI:: NC_000018.10:47159771:C:T
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.47159772C>T, NC_000018.9:g.44686143C>T, NG_031925.1:g.21603G>A

Select item 14906936377.

rs1490693637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:47160853 (GRCh38)
18:44687224 (GRCh37)
Canonical SPDI:: NC_000018.10:47160852:T:A
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_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_000018.10:g.47160853T>A, NC_000018.9:g.44687224T>A, NG_031925.1:g.20522A>T

Select item 14906369438.

rs1490636943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:47161192 (GRCh38)
18:44687563 (GRCh37)
Canonical SPDI:: NC_000018.10:47161191:T:C
Gene:: IER3IP1 (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_000018.10:g.47161192T>C, NC_000018.9:g.44687563T>C, NG_031925.1:g.20183A>G

Select item 14905666829.

rs1490566682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:47168756 (GRCh38)
18:44695127 (GRCh37)
Canonical SPDI:: NC_000018.10:47168755:A:G
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.47168756A>G, NC_000018.9:g.44695127A>G, NG_031925.1:g.12619T>C

Select item 149052501010.

rs1490525010 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:47163961 (GRCh38)
18:44690332 (GRCh37)
Canonical SPDI:: NC_000018.10:47163960:A:C
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00005/7 (GnomAD)
C=0.000057/15 (TOPMED)
C=0.000468/3 (1000Genomes)
C=0.001711/5 (KOREAN)
C=0.003256/55 (TOMMO)
C=0.003275/6 (Korea1K)
HGVS:: NC_000018.10:g.47163961A>C, NC_000018.9:g.44690332A>C, NG_031925.1:g.17414T>G

Select item 149045606511.

rs1490456065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:47168120 (GRCh38)
18:44694491 (GRCh37)
Canonical SPDI:: NC_000018.10:47168119:C:A,NC_000018.10:47168119:C:T
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000009/1 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000018.10:g.47168120C>A, NC_000018.10:g.47168120C>T, NC_000018.9:g.44694491C>A, NC_000018.9:g.44694491C>T, NG_031925.1:g.13255G>T, NG_031925.1:g.13255G>A

Select item 149034297212.

rs1490342972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 18:47175957 (GRCh38)
18:44702328 (GRCh37)
Canonical SPDI:: NC_000018.10:47175956:A:G,NC_000018.10:47175956:A:T
Gene:: IER3IP1 (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_000018.10:g.47175957A>G, NC_000018.10:g.47175957A>T, NC_000018.9:g.44702328A>G, NC_000018.9:g.44702328A>T, NG_031925.1:g.5418T>C, NG_031925.1:g.5418T>A

Select item 149021740513.

rs1490217405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:47159329 (GRCh38)
18:44685700 (GRCh37)
Canonical SPDI:: NC_000018.10:47159328:G:A
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.47159329G>A, NC_000018.9:g.44685700G>A, NG_031925.1:g.22046C>T

Select item 149020226014.

rs1490202260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:47160253 (GRCh38)
18:44686624 (GRCh37)
Canonical SPDI:: NC_000018.10:47160252:C:G,NC_000018.10:47160252:C:T
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000142/2 (TOMMO)
HGVS:: NC_000018.10:g.47160253C>G, NC_000018.10:g.47160253C>T, NC_000018.9:g.44686624C>G, NC_000018.9:g.44686624C>T, NG_031925.1:g.21122G>C, NG_031925.1:g.21122G>A

Select item 149010735415.

rs1490107354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:47158485 (GRCh38)
18:44684856 (GRCh37)
Canonical SPDI:: NC_000018.10:47158484:G:T
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.47158485G>T, NC_000018.9:g.44684856G>T, NG_031925.1:g.22890C>A

Select item 148955658716.

rs1489556587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:47159333 (GRCh38)
18:44685704 (GRCh37)
Canonical SPDI:: NC_000018.10:47159332:T:C
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.47159333T>C, NC_000018.9:g.44685704T>C, NG_031925.1:g.22042A>G

Select item 148934209517.

rs1489342095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:47161595 (GRCh38)
18:44687966 (GRCh37)
Canonical SPDI:: NC_000018.10:47161594:C:A
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.47161595C>A, NC_000018.9:g.44687966C>A, NG_031925.1:g.19780G>T

Select item 148922424018.

rs1489224240 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 18:47165989 (GRCh38)
18:44692361 (GRCh37)
Canonical SPDI:: NC_000018.10:47165989:A:AA
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.47165990dup, NC_000018.9:g.44692361dup, NG_031925.1:g.15385dup

Select item 148891967319.

rs1488919673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:47154860 (GRCh38)
18:44681231 (GRCh37)
Canonical SPDI:: NC_000018.10:47154859:G:A
Gene:: IER3IP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.47154860G>A, NC_000018.9:g.44681231G>A, NG_031925.1:g.26515C>T, NM_016097.5:c.*1317C>T

Select item 148888344920.

rs1488883449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:47169961 (GRCh38)
18:44696332 (GRCh37)
Canonical SPDI:: NC_000018.10:47169960:G:A,NC_000018.10:47169960:G:T
Gene:: IER3IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.47169961G>A, NC_000018.10:g.47169961G>T, NC_000018.9:g.44696332G>A, NC_000018.9:g.44696332G>T, NG_031925.1:g.11414C>T, NG_031925.1:g.11414C>A

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