SNP Links for Gene (Select 51537) - SNP

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Select item 14900909681.

rs1490090968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30429464 (GRCh38)
22:30825451 (GRCh37)
Canonical SPDI:: NC_000022.11:30429463:C:T
Gene:: MTFP1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.30429464C>T, NC_000022.10:g.30825451C>T

Select item 14893050552.

rs1489305055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30425078 (GRCh38)
22:30821066 (GRCh37)
Canonical SPDI:: NC_000022.11:30425077:A:G
Gene:: SEC14L2 (Varview), MTFP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.30425078A>G, NC_000022.10:g.30821066A>G, NM_012429.5:c.*2671A>G, NM_012429.4:c.*2671A>G, NM_012429.3:c.*2670A>G, NM_001204204.3:c.*2671A>G, NM_001204204.2:c.*2671A>G, NM_001204204.1:c.*2670A>G, NM_001291932.2:c.*2671A>G, NM_001291932.1:c.*2671A>G

Select item 14884382623.

rs1488438262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:30428418 (GRCh38)
22:30824405 (GRCh37)
Canonical SPDI:: NC_000022.11:30428417:G:C
Gene:: MTFP1 (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_000022.11:g.30428418G>C, NC_000022.10:g.30824405G>C

Select item 14882865654.

rs1488286565 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:30423775 (GRCh38)
22:30819764 (GRCh37)
Canonical SPDI:: NC_000022.11:30423775:CCC:CCCC
Gene:: SEC14L2 (Varview), MTFP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30423778dup, NC_000022.10:g.30819766dup, NM_012429.5:c.*1371dup, NM_012429.4:c.*1371dup, NM_012429.3:c.*1370dup, NM_001204204.3:c.*1371dup, NM_001204204.2:c.*1371dup, NM_001204204.1:c.*1370dup, NM_001291932.2:c.*1371dup, NM_001291932.1:c.*1371dup

Select item 14882335055.

rs1488233505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30424448 (GRCh38)
22:30820436 (GRCh37)
Canonical SPDI:: NC_000022.11:30424447:G:A
Gene:: SEC14L2 (Varview), MTFP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.30424448G>A, NC_000022.10:g.30820436G>A, NM_012429.5:c.*2041G>A, NM_012429.4:c.*2041G>A, NM_012429.3:c.*2040G>A, NM_001204204.3:c.*2041G>A, NM_001204204.2:c.*2041G>A, NM_001204204.1:c.*2040G>A, NM_001291932.2:c.*2041G>A, NM_001291932.1:c.*2041G>A

Select item 14879697766.

rs1487969776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:30423845 (GRCh38)
22:30819833 (GRCh37)
Canonical SPDI:: NC_000022.11:30423844:G:A,NC_000022.11:30423844:G:C
Gene:: SEC14L2 (Varview), MTFP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.30423845G>A, NC_000022.11:g.30423845G>C, NC_000022.10:g.30819833G>A, NC_000022.10:g.30819833G>C, NM_012429.5:c.*1438G>A, NM_012429.5:c.*1438G>C, NM_012429.4:c.*1438G>A, NM_012429.4:c.*1438G>C, NM_012429.3:c.*1437G>A, NM_012429.3:c.*1437G>C, NM_001204204.3:c.*1438G>A, NM_001204204.3:c.*1438G>C, NM_001204204.2:c.*1438G>A, NM_001204204.2:c.*1438G>C, NM_001204204.1:c.*1437G>A, NM_001204204.1:c.*1437G>C, NM_001291932.2:c.*1438G>A, NM_001291932.2:c.*1438G>C, NM_001291932.1:c.*1438G>A, NM_001291932.1:c.*1438G>C

Select item 14873431717.

rs1487343171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:30424170 (GRCh38)
22:30820158 (GRCh37)
Canonical SPDI:: NC_000022.11:30424169:A:C
Gene:: SEC14L2 (Varview), MTFP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30424170A>C, NC_000022.10:g.30820158A>C, NM_012429.5:c.*1763A>C, NM_012429.4:c.*1763A>C, NM_012429.3:c.*1762A>C, NM_001204204.3:c.*1763A>C, NM_001204204.2:c.*1763A>C, NM_001204204.1:c.*1762A>C, NM_001291932.2:c.*1763A>C, NM_001291932.1:c.*1763A>C

Select item 14869272898.

rs1486927289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30426159 (GRCh38)
22:30822147 (GRCh37)
Canonical SPDI:: NC_000022.11:30426158:G:A
Gene:: MTFP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.30426159G>A, NC_000022.10:g.30822147G>A

Select item 14866448129.

rs1486644812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30428413 (GRCh38)
22:30824400 (GRCh37)
Canonical SPDI:: NC_000022.11:30428412:C:T
Gene:: MTFP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30428413C>T, NC_000022.10:g.30824400C>T

Select item 148619272110.

rs1486192721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30427162 (GRCh38)
22:30823149 (GRCh37)
Canonical SPDI:: NC_000022.11:30427161:G:A
Gene:: MTFP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.30427162G>A, NC_000022.10:g.30823149G>A

Select item 148533497611.

rs1485334976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:30426311 (GRCh38)
22:30822299 (GRCh37)
Canonical SPDI:: NC_000022.11:30426310:C:A
Gene:: MTFP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.30426311C>A, NC_000022.10:g.30822299C>A

Select item 148530693212.

rs1485306932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:30424878 (GRCh38)
22:30820866 (GRCh37)
Canonical SPDI:: NC_000022.11:30424877:T:G
Gene:: SEC14L2 (Varview), MTFP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30424878T>G, NC_000022.10:g.30820866T>G, NM_012429.5:c.*2471T>G, NM_012429.4:c.*2471T>G, NM_012429.3:c.*2470T>G, NM_001204204.3:c.*2471T>G, NM_001204204.2:c.*2471T>G, NM_001204204.1:c.*2470T>G, NM_001291932.2:c.*2471T>G, NM_001291932.1:c.*2471T>G

Select item 148529214413.

rs1485292144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30425750 (GRCh38)
22:30821738 (GRCh37)
Canonical SPDI:: NC_000022.11:30425749:G:A
Gene:: SEC14L2 (Varview), MTFP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.30425750G>A, NC_000022.10:g.30821738G>A, NM_016498.4:c.-130G>A, NM_001003704.2:c.-130G>A

Select item 148517775114.

rs1485177751 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 22:30429450 (GRCh38)
22:30825437 (GRCh37)
Canonical SPDI:: NC_000022.11:30429449:CCCC:CCC
Gene:: MTFP1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30429453del, NC_000022.10:g.30825440del

Select item 148478991115.

rs1484789911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:30425989 (GRCh38)
22:30821977 (GRCh37)
Canonical SPDI:: NC_000022.11:30425988:G:C
Gene:: MTFP1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000022.11:g.30425989G>C, NC_000022.10:g.30821977G>C

Select item 148192698516.

rs1481926985 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 22:30427898 (GRCh38)
22:30823885 (GRCh37)
Canonical SPDI:: NC_000022.11:30427897:T:
Gene:: MTFP1 (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_000022.11:g.30427898del, NC_000022.10:g.30823885del

Select item 148140291717.

rs1481402917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:30424162 (GRCh38)
22:30820150 (GRCh37)
Canonical SPDI:: NC_000022.11:30424161:C:G,NC_000022.11:30424161:C:T
Gene:: SEC14L2 (Varview), MTFP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30424162C>G, NC_000022.11:g.30424162C>T, NC_000022.10:g.30820150C>G, NC_000022.10:g.30820150C>T, NM_012429.5:c.*1755C>G, NM_012429.5:c.*1755C>T, NM_012429.4:c.*1755C>G, NM_012429.4:c.*1755C>T, NM_012429.3:c.*1754C>G, NM_012429.3:c.*1754C>T, NM_001204204.3:c.*1755C>G, NM_001204204.3:c.*1755C>T, NM_001204204.2:c.*1755C>G, NM_001204204.2:c.*1755C>T, NM_001204204.1:c.*1754C>G, NM_001204204.1:c.*1754C>T, NM_001291932.2:c.*1755C>G, NM_001291932.2:c.*1755C>T, NM_001291932.1:c.*1755C>G, NM_001291932.1:c.*1755C>T

Select item 148134536818.

rs1481345368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30427281 (GRCh38)
22:30823268 (GRCh37)
Canonical SPDI:: NC_000022.11:30427280:C:T
Gene:: MTFP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.30427281C>T, NC_000022.10:g.30823268C>T, NM_016498.5:c.306C>T, NM_016498.4:c.306C>T

Select item 148124894819.

rs1481248948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:30426041 (GRCh38)
22:30822029 (GRCh37)
Canonical SPDI:: NC_000022.11:30426040:A:T
Gene:: MTFP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30426041A>T, NC_000022.10:g.30822029A>T

Select item 147991137820.

rs1479911378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30424861 (GRCh38)
22:30820849 (GRCh37)
Canonical SPDI:: NC_000022.11:30424860:C:T
Gene:: SEC14L2 (Varview), MTFP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30424861C>T, NC_000022.10:g.30820849C>T, NM_012429.5:c.*2454C>T, NM_012429.4:c.*2454C>T, NM_012429.3:c.*2453C>T, NM_001204204.3:c.*2454C>T, NM_001204204.2:c.*2454C>T, NM_001204204.1:c.*2453C>T, NM_001291932.2:c.*2454C>T, NM_001291932.1:c.*2454C>T

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