SNP Links for Gene (Select 162387) - SNP

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Select item 14911862071.

rs1491186207 has merged into rs35103517 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 17:8799593 (GRCh38)
17:8702911 (GRCh37)
Canonical SPDI:: NC_000017.11:8799592:GGGGGGG:GGGGGG,NC_000017.11:8799592:GGGGGGG:GGGGGGGG
Gene:: MFSD6L (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.00055/1 (Korea1K)
HGVS:: NC_000017.11:g.8799599del, NC_000017.11:g.8799599dup, NC_000017.10:g.8702917del, NC_000017.10:g.8702917dup

Select item 14908538242.

rs1490853824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:8798987 (GRCh38)
17:8702305 (GRCh37)
Canonical SPDI:: NC_000017.11:8798986:G:T
Gene:: MFSD6L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8798987G>T, NC_000017.10:g.8702305G>T, NM_152599.4:c.134C>A, NM_152599.3:c.134C>A, NP_689812.3:p.Ala45Glu

Select item 14897195303.

rs1489719530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8798795 (GRCh38)
17:8702113 (GRCh37)
Canonical SPDI:: NC_000017.11:8798794:C:T
Gene:: MFSD6L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8798795C>T, NC_000017.10:g.8702113C>T, NM_152599.4:c.326G>A, NM_152599.3:c.326G>A, NP_689812.3:p.Cys109Tyr

Select item 14892326914.

rs1489232691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8797973 (GRCh38)
17:8701291 (GRCh37)
Canonical SPDI:: NC_000017.11:8797972:C:T
Gene:: MFSD6L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8797973C>T, NC_000017.10:g.8701291C>T, NM_152599.4:c.1148G>A, NM_152599.3:c.1148G>A, NP_689812.3:p.Ser383Asn

Select item 14890075865.

rs1489007586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8796698 (GRCh38)
17:8700016 (GRCh37)
Canonical SPDI:: NC_000017.11:8796697:G:A
Gene:: MFSD6L (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8796698G>A, NC_000017.10:g.8700016G>A

Select item 14888741186.

rs1488874118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:8798169 (GRCh38)
17:8701487 (GRCh37)
Canonical SPDI:: NC_000017.11:8798168:G:A,NC_000017.11:8798168:G:T
Gene:: MFSD6L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8798169G>A, NC_000017.11:g.8798169G>T, NC_000017.10:g.8701487G>A, NC_000017.10:g.8701487G>T, NM_152599.4:c.952C>T, NM_152599.4:c.952C>A, NM_152599.3:c.952C>T, NM_152599.3:c.952C>A, NP_689812.3:p.Pro318Ser, NP_689812.3:p.Pro318Thr

Select item 14886982717.

rs1488698271 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 17:8797176 (GRCh38)
17:8700494 (GRCh37)
Canonical SPDI:: NC_000017.11:8797173:CTCCT:CT
Gene:: MFSD6L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8797176_8797178del, NC_000017.10:g.8700494_8700496del, NM_152599.4:c.*184_*186del, NM_152599.3:c.*184_*186del

Select item 14880177388.

rs1488017738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:8799777 (GRCh38)
17:8703095 (GRCh37)
Canonical SPDI:: NC_000017.11:8799776:C:A,NC_000017.11:8799776:C:T
Gene:: MFSD6L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8799777C>A, NC_000017.11:g.8799777C>T, NC_000017.10:g.8703095C>A, NC_000017.10:g.8703095C>T

Select item 14878076069.

rs1487807606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8799428 (GRCh38)
17:8702746 (GRCh37)
Canonical SPDI:: NC_000017.11:8799427:C:T
Gene:: MFSD6L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8799428C>T, NC_000017.10:g.8702746C>T

Select item 148737304910.

rs1487373049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8799113 (GRCh38)
17:8702431 (GRCh37)
Canonical SPDI:: NC_000017.11:8799112:G:A
Gene:: MFSD6L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8799113G>A, NC_000017.10:g.8702431G>A, NM_152599.4:c.8C>T, NM_152599.3:c.8C>T, NP_689812.3:p.Ala3Val

Select item 148564047811.

rs1485640478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8797665 (GRCh38)
17:8700983 (GRCh37)
Canonical SPDI:: NC_000017.11:8797664:G:A
Gene:: MFSD6L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/3 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8797665G>A, NC_000017.10:g.8700983G>A, NM_152599.4:c.1456C>T, NM_152599.3:c.1456C>T, NP_689812.3:p.Arg486Cys

Select item 148538299312.

rs1485382993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:8800568 (GRCh38)
17:8703886 (GRCh37)
Canonical SPDI:: NC_000017.11:8800567:A:C,NC_000017.11:8800567:A:T
Gene:: MFSD6L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8800568A>C, NC_000017.11:g.8800568A>T, NC_000017.10:g.8703886A>C, NC_000017.10:g.8703886A>T

Select item 148417757513.

rs1484177575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:8800379 (GRCh38)
17:8703697 (GRCh37)
Canonical SPDI:: NC_000017.11:8800378:G:A,NC_000017.11:8800378:G:C
Gene:: MFSD6L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8800379G>A, NC_000017.11:g.8800379G>C, NC_000017.10:g.8703697G>A, NC_000017.10:g.8703697G>C

Select item 148361456414.

rs1483614564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:8798622 (GRCh38)
17:8701940 (GRCh37)
Canonical SPDI:: NC_000017.11:8798621:C:G
Gene:: MFSD6L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8798622C>G, NC_000017.10:g.8701940C>G, NM_152599.4:c.499G>C, NM_152599.3:c.499G>C, NP_689812.3:p.Asp167His

Select item 148326593415.

rs1483265934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:8796781 (GRCh38)
17:8700099 (GRCh37)
Canonical SPDI:: NC_000017.11:8796780:C:A
Gene:: MFSD6L (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8796781C>A, NC_000017.10:g.8700099C>A

Select item 148209467716.

rs1482094677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8799666 (GRCh38)
17:8702984 (GRCh37)
Canonical SPDI:: NC_000017.11:8799665:T:C
Gene:: MFSD6L (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=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8799666T>C, NC_000017.10:g.8702984T>C

Select item 147828100517.

rs1478281005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:8797271 (GRCh38)
17:8700589 (GRCh37)
Canonical SPDI:: NC_000017.11:8797270:C:A
Gene:: MFSD6L (Varview)
Functional Consequence:: 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_000017.11:g.8797271C>A, NC_000017.10:g.8700589C>A, NM_152599.4:c.*89G>T, NM_152599.3:c.*89G>T

Select item 147775776118.

rs1477757761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:8798986 (GRCh38)
17:8702304 (GRCh37)
Canonical SPDI:: NC_000017.11:8798985:C:G,NC_000017.11:8798985:C:T
Gene:: MFSD6L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8798986C>G, NC_000017.11:g.8798986C>T, NC_000017.10:g.8702304C>G, NC_000017.10:g.8702304C>T, NM_152599.4:c.135G>C, NM_152599.4:c.135G>A, NM_152599.3:c.135G>C, NM_152599.3:c.135G>A

Select item 147729085219.

rs1477290852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:8800328 (GRCh38)
17:8703646 (GRCh37)
Canonical SPDI:: NC_000017.11:8800327:A:G
Gene:: MFSD6L (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=0.000007/1 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.8800328A>G, NC_000017.10:g.8703646A>G

Select item 147723229820.

rs1477232298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8798131 (GRCh38)
17:8701449 (GRCh37)
Canonical SPDI:: NC_000017.11:8798130:G:A
Gene:: MFSD6L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8798131G>A, NC_000017.10:g.8701449G>A, NM_152599.4:c.990C>T, NM_152599.3:c.990C>T

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