SNP Links for Gene (Select 4239) - SNP

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Select item 14905735191.

rs1490573519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19386746 (GRCh38)
17:19290059 (GRCh37)
Canonical SPDI:: NC_000017.11:19386745:G:A
Gene:: MFAP4 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.19386746G>A, NC_000017.10:g.19290059G>A, NG_027952.1:g.5474C>T

Select item 14896790132.

rs1489679013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:19388287 (GRCh38)
17:19291600 (GRCh37)
Canonical SPDI:: NC_000017.11:19388286:T:C
Gene:: MFAP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.19388287T>C, NC_000017.10:g.19291600T>C, NG_027952.1:g.3933A>G

Select item 14893367753.

rs1489336775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:19388075 (GRCh38)
17:19291388 (GRCh37)
Canonical SPDI:: NC_000017.11:19388074:G:A,NC_000017.11:19388074:G:T
Gene:: MFAP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.19388075G>A, NC_000017.11:g.19388075G>T, NC_000017.10:g.19291388G>A, NC_000017.10:g.19291388G>T, NG_027952.1:g.4145C>T, NG_027952.1:g.4145C>A

Select item 14892713284.

rs1489271328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:19387943 (GRCh38)
17:19291256 (GRCh37)
Canonical SPDI:: NC_000017.11:19387942:A:G
Gene:: MFAP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.19387943A>G, NC_000017.10:g.19291256A>G, NG_027952.1:g.4277T>C

Select item 14892511255.

rs1489251125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:19386058 (GRCh38)
17:19289371 (GRCh37)
Canonical SPDI:: NC_000017.11:19386057:C:A,NC_000017.11:19386057:C:G
Gene:: MFAP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.19386058C>A, NC_000017.11:g.19386058C>G, NC_000017.10:g.19289371C>A, NC_000017.10:g.19289371C>G, NG_027952.1:g.6162G>T, NG_027952.1:g.6162G>C

Select item 14873106766.

rs1487310676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:19386537 (GRCh38)
17:19289850 (GRCh37)
Canonical SPDI:: NC_000017.11:19386536:T:A
Gene:: MFAP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000198/3 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000017.11:g.19386537T>A, NC_000017.10:g.19289850T>A, NG_027952.1:g.5683A>T

Select item 14872516537.

rs1487251653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19384705 (GRCh38)
17:19288018 (GRCh37)
Canonical SPDI:: NC_000017.11:19384704:G:A
Gene:: MFAP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.19384705G>A, NC_000017.10:g.19288018G>A, NG_027952.1:g.7515C>T, NM_002404.3:c.525C>T, NM_002404.2:c.525C>T, NM_001198695.2:c.597C>T, NM_001198695.1:c.597C>T

Select item 14871030588.

rs1487103058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:19386267 (GRCh38)
17:19289580 (GRCh37)
Canonical SPDI:: NC_000017.11:19386266:G:C
Gene:: MFAP4 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.19386267G>C, NC_000017.10:g.19289580G>C, NG_027952.1:g.5953C>G

Select item 14869896719.

rs1486989671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:19384458 (GRCh38)
17:19287771 (GRCh37)
Canonical SPDI:: NC_000017.11:19384457:C:A
Gene:: MFAP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.19384458C>A, NC_000017.10:g.19287771C>A, NG_027952.1:g.7762G>T, NM_002404.3:c.*4G>T, NM_002404.2:c.*4G>T, NM_001198695.2:c.*4G>T, NM_001198695.1:c.*4G>T

Select item 148585972610.

rs1485859726 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:19385949 (GRCh38)
17:19289262 (GRCh37)
Canonical SPDI:: NC_000017.11:19385948:T:
Gene:: MFAP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.19385949del, NC_000017.10:g.19289262del, NG_027952.1:g.6271del

Select item 148574715411.

rs1485747154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:19384331 (GRCh38)
17:19287644 (GRCh37)
Canonical SPDI:: NC_000017.11:19384330:A:G
Gene:: MFAP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.19384331A>G, NC_000017.10:g.19287644A>G, NG_027952.1:g.7889T>C, NM_002404.3:c.*131T>C, NM_002404.2:c.*131T>C, NM_001198695.2:c.*131T>C, NM_001198695.1:c.*131T>C

Select item 148569417512.

rs1485694175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19386817 (GRCh38)
17:19290130 (GRCh37)
Canonical SPDI:: NC_000017.11:19386816:G:A
Gene:: MFAP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000106/3 (TOMMO)
A=0.001092/2 (Korea1K)
HGVS:: NC_000017.11:g.19386817G>A, NC_000017.10:g.19290130G>A, NG_027952.1:g.5403C>T, NM_002404.3:c.28C>T, NM_002404.2:c.28C>T, NM_001198695.2:c.100C>T, NM_001198695.1:c.100C>T

Select item 148566904713.

rs1485669047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:19386997 (GRCh38)
17:19290310 (GRCh37)
Canonical SPDI:: NC_000017.11:19386996:A:C
Gene:: MFAP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00115/19 (TOMMO)
C=0.0069/521 (GnomAD_exomes)
HGVS:: NC_000017.11:g.19386997A>C, NC_000017.10:g.19290310A>C, NG_027952.1:g.5223T>G

Select item 148480588814.

rs1484805888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19387168 (GRCh38)
17:19290481 (GRCh37)
Canonical SPDI:: NC_000017.11:19387167:G:A
Gene:: MFAP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.19387168G>A, NC_000017.10:g.19290481G>A, NG_027952.1:g.5052C>T, NM_002404.3:c.-13C>T, NM_002404.2:c.-13C>T, NM_001198695.2:c.-50C>T, NM_001198695.1:c.-50C>T

Select item 148448112415.

rs1484481124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19388532 (GRCh38)
17:19291845 (GRCh37)
Canonical SPDI:: NC_000017.11:19388531:G:A
Gene:: MFAP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.19388532G>A, NC_000017.10:g.19291845G>A, NG_027952.1:g.3688C>T

Select item 148375427516.

rs1483754275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19388693 (GRCh38)
17:19292006 (GRCh37)
Canonical SPDI:: NC_000017.11:19388692:G:A
Gene:: MFAP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.19388693G>A, NC_000017.10:g.19292006G>A, NG_027952.1:g.3527C>T

Select item 148367912317.

rs1483679123 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:19388304 (GRCh38)
17:19291617 (GRCh37)
Canonical SPDI:: NC_000017.11:19388303:T:C
Gene:: MFAP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.19388304T>C, NC_000017.10:g.19291617T>C, NG_027952.1:g.3916A>G

Select item 148348982218.

rs1483489822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19384865 (GRCh38)
17:19288178 (GRCh37)
Canonical SPDI:: NC_000017.11:19384864:C:T
Gene:: MFAP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.19384865C>T, NC_000017.10:g.19288178C>T, NG_027952.1:g.7355G>A

Select item 148294209419.

rs1482942094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:19385935 (GRCh38)
17:19289248 (GRCh37)
Canonical SPDI:: NC_000017.11:19385934:A:G
Gene:: MFAP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000078/11 (GnomAD)
G=0.000174/46 (TOPMED)
G=0.000781/5 (1000Genomes)
G=0.002725/46 (TOMMO)
G=0.003821/7 (Korea1K)
G=0.006845/20 (KOREAN)
HGVS:: NC_000017.11:g.19385935A>G, NC_000017.10:g.19289248A>G, NG_027952.1:g.6285T>C

Select item 148266187820.

rs1482661878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:19387374 (GRCh38)
17:19290687 (GRCh37)
Canonical SPDI:: NC_000017.11:19387373:T:C
Gene:: MFAP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.19387374T>C, NC_000017.10:g.19290687T>C, NG_027952.1:g.4846A>G

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