SNP Links for Protein (Select 42713696) - SNP

Select item 14842552601.

rs1484255260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:39967643 (GRCh38)
1:40433315 (GRCh37)
Canonical SPDI:: NC_000001.11:39967642:A:G
Gene:: MFSD2A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39967643A>G, NC_000001.10:g.40433315A>G, NG_053084.1:g.17532A>G, NM_032793.5:c.1027A>G, NM_032793.4:c.1027A>G, NM_032793.3:c.1027A>G, NM_001136493.3:c.1066A>G, NM_001136493.2:c.1066A>G, NM_001136493.1:c.1066A>G, NM_001349823.2:c.682A>G, NM_001349823.1:c.682A>G, NM_001349821.2:c.1021A>G, NM_001349821.1:c.1021A>G, NM_001287809.2:c.910A>G, NM_001287809.1:c.910A>G, NM_001287808.2:c.559A>G, NM_001287808.1:c.559A>G, NP_116182.2:p.Thr343Ala, NP_001129965.1:p.Thr356Ala, NP_001336752.1:p.Thr228Ala, NP_001336750.1:p.Thr341Ala, NP_001274738.1:p.Thr304Ala, NP_001274737.1:p.Thr187Ala

Select item 14810359522.

rs1481035952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39965220 (GRCh38)
1:40430892 (GRCh37)
Canonical SPDI:: NC_000001.11:39965219:C:T
Gene:: MFSD2A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.39965220C>T, NC_000001.10:g.40430892C>T, NG_053084.1:g.15109C>T, NM_032793.5:c.363C>T, NM_032793.4:c.363C>T, NM_032793.3:c.363C>T, NM_001136493.3:c.402C>T, NM_001136493.2:c.402C>T, NM_001136493.1:c.402C>T, NM_001349823.2:c.18C>T, NM_001349823.1:c.18C>T, NM_001349821.2:c.357C>T, NM_001349821.1:c.357C>T, NM_001349822.2:c.363C>T, NM_001349822.1:c.363C>T, NM_001287809.2:c.252C>T, NM_001287809.1:c.252C>T, NR_109896.2:n.511C>T, NR_109896.1:n.544C>T, NM_001287808.2:c.-106C>T, NM_001287808.1:c.-106C>T, XM_047432490.1:c.357C>T

Select item 14800593013.

rs1480059301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:39957201 (GRCh38)
1:40422873 (GRCh37)
Canonical SPDI:: NC_000001.11:39957200:T:C
Gene:: MFSD2A (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000056/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39957201T>C, NC_000001.10:g.40422873T>C, NG_053084.1:g.7090T>C, NM_032793.5:c.208T>C, NM_032793.4:c.208T>C, NM_032793.3:c.208T>C, NM_001136493.3:c.208T>C, NM_001136493.2:c.208T>C, NM_001136493.1:c.208T>C, NM_001349823.2:c.-138T>C, NM_001349823.1:c.-138T>C, NM_001349821.2:c.202T>C, NM_001349821.1:c.202T>C, NM_001349822.2:c.208T>C, NM_001349822.1:c.208T>C, NM_001287809.2:c.97T>C, NM_001287809.1:c.97T>C, NR_109896.2:n.356T>C, NR_109896.1:n.389T>C, XM_047432490.1:c.202T>C, NP_116182.2:p.Tyr70His, NP_001129965.1:p.Tyr70His, NP_001336750.1:p.Tyr68His, NP_001336751.1:p.Tyr70His, NP_001274738.1:p.Tyr33His, XP_047288446.1:p.Tyr68His

Select item 14785392724.

rs1478539272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:39966655 (GRCh38)
1:40432327 (GRCh37)
Canonical SPDI:: NC_000001.11:39966654:G:A,NC_000001.11:39966654:G:T
Gene:: MFSD2A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.39966655G>A, NC_000001.11:g.39966655G>T, NC_000001.10:g.40432327G>A, NC_000001.10:g.40432327G>T, NG_053084.1:g.16544G>A, NG_053084.1:g.16544G>T, NM_032793.5:c.769G>A, NM_032793.5:c.769G>T, NM_032793.4:c.769G>A, NM_032793.4:c.769G>T, NM_032793.3:c.769G>A, NM_032793.3:c.769G>T, NM_001136493.3:c.808G>A, NM_001136493.3:c.808G>T, NM_001136493.2:c.808G>A, NM_001136493.2:c.808G>T, NM_001136493.1:c.808G>A, NM_001136493.1:c.808G>T, NM_001349823.2:c.424G>A, NM_001349823.2:c.424G>T, NM_001349823.1:c.424G>A, NM_001349823.1:c.424G>T, NM_001349821.2:c.763G>A, NM_001349821.2:c.763G>T, NM_001349821.1:c.763G>A, NM_001349821.1:c.763G>T, NM_001349822.2:c.769G>A, NM_001349822.2:c.769G>T, NM_001349822.1:c.769G>A, NM_001349822.1:c.769G>T, NM_001287809.2:c.652G>A, NM_001287809.2:c.652G>T, NM_001287809.1:c.652G>A, NM_001287809.1:c.652G>T, NR_109896.2:n.917G>A, NR_109896.2:n.917G>T, NR_109896.1:n.950G>A, NR_109896.1:n.950G>T, NM_001287808.2:c.301G>A, NM_001287808.2:c.301G>T, NM_001287808.1:c.301G>A, NM_001287808.1:c.301G>T, XM_047432490.1:c.763G>A, XM_047432490.1:c.763G>T, NP_116182.2:p.Ala257Thr, NP_116182.2:p.Ala257Ser, NP_001129965.1:p.Ala270Thr, NP_001129965.1:p.Ala270Ser, NP_001336752.1:p.Ala142Thr, NP_001336752.1:p.Ala142Ser, NP_001336750.1:p.Ala255Thr, NP_001336750.1:p.Ala255Ser, NP_001336751.1:p.Ala257Thr, NP_001336751.1:p.Ala257Ser, NP_001274738.1:p.Ala218Thr, NP_001274738.1:p.Ala218Ser, NP_001274737.1:p.Ala101Thr, NP_001274737.1:p.Ala101Ser, XP_047288446.1:p.Ala255Thr, XP_047288446.1:p.Ala255Ser

Select item 14779535745.

rs1477953574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39969505 (GRCh38)
1:40435177 (GRCh37)
Canonical SPDI:: NC_000001.11:39969504:G:A
Gene:: MFSD2A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.39969505G>A, NC_000001.10:g.40435177G>A, NG_053084.1:g.19394G>A, NM_032793.5:c.1530G>A, NM_032793.4:c.1530G>A, NM_032793.3:c.1530G>A, NM_001136493.3:c.1569G>A, NM_001136493.2:c.1569G>A, NM_001136493.1:c.1569G>A, NM_001349823.2:c.1185G>A, NM_001349823.1:c.1185G>A, NM_001349821.2:c.1524G>A, NM_001349821.1:c.1524G>A, NM_001349822.2:c.1446G>A, NM_001349822.1:c.1446G>A, NM_001287809.2:c.1413G>A, NM_001287809.1:c.1413G>A, NR_109896.2:n.1481G>A, NR_109896.1:n.1514G>A, NM_001287808.2:c.1062G>A, NM_001287808.1:c.1062G>A, XM_047432490.1:c.1440G>A

Select item 14744574616.

rs1474457461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:39969557 (GRCh38)
1:40435229 (GRCh37)
Canonical SPDI:: NC_000001.11:39969556:A:G
Gene:: MFSD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.39969557A>G, NC_000001.10:g.40435229A>G, NG_053084.1:g.19446A>G, NM_032793.5:c.1582A>G, NM_032793.4:c.1582A>G, NM_032793.3:c.1582A>G, NM_001136493.3:c.1621A>G, NM_001136493.2:c.1621A>G, NM_001136493.1:c.1621A>G, NM_001349823.2:c.1237A>G, NM_001349823.1:c.1237A>G, NM_001349821.2:c.1576A>G, NM_001349821.1:c.1576A>G, NM_001349822.2:c.1498A>G, NM_001349822.1:c.1498A>G, NM_001287809.2:c.1465A>G, NM_001287809.1:c.1465A>G, NR_109896.2:n.1533A>G, NR_109896.1:n.1566A>G, NM_001287808.2:c.1114A>G, NM_001287808.1:c.1114A>G, XM_047432490.1:c.1492A>G, NP_116182.2:p.Ser528Gly, NP_001129965.1:p.Ser541Gly, NP_001336752.1:p.Ser413Gly, NP_001336750.1:p.Ser526Gly, NP_001336751.1:p.Ser500Gly, NP_001274738.1:p.Ser489Gly, NP_001274737.1:p.Ser372Gly, XP_047288446.1:p.Ser498Gly

Select item 14728393677.

rs1472839367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:39958764 (GRCh38)
1:40424436 (GRCh37)
Canonical SPDI:: NC_000001.11:39958763:C:A
Gene:: MFSD2A (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.39958764C>A, NC_000001.10:g.40424436C>A, NG_053084.1:g.8653C>A, NM_032793.5:c.292C>A, NM_032793.4:c.292C>A, NM_032793.3:c.292C>A, NM_001136493.3:c.331C>A, NM_001136493.2:c.331C>A, NM_001136493.1:c.331C>A, NM_001349823.2:c.-54C>A, NM_001349823.1:c.-54C>A, NM_001349821.2:c.286C>A, NM_001349821.1:c.286C>A, NM_001349822.2:c.292C>A, NM_001349822.1:c.292C>A, NM_001287809.2:c.181C>A, NM_001287809.1:c.181C>A, NR_109896.2:n.440C>A, NR_109896.1:n.473C>A, XM_047432490.1:c.286C>A, NP_116182.2:p.Pro98Thr, NP_001129965.1:p.Pro111Thr, NP_001336750.1:p.Pro96Thr, NP_001336751.1:p.Pro98Thr, NP_001274738.1:p.Pro61Thr, XP_047288446.1:p.Pro96Thr

Select item 14724780428.

rs1472478042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:39968377 (GRCh38)
1:40434049 (GRCh37)
Canonical SPDI:: NC_000001.11:39968376:C:A
Gene:: MFSD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.39968377C>A, NC_000001.10:g.40434049C>A, NG_053084.1:g.18266C>A, NM_032793.5:c.1252C>A, NM_032793.4:c.1252C>A, NM_032793.3:c.1252C>A, NM_001136493.3:c.1291C>A, NM_001136493.2:c.1291C>A, NM_001136493.1:c.1291C>A, NM_001349823.2:c.907C>A, NM_001349823.1:c.907C>A, NM_001349821.2:c.1246C>A, NM_001349821.1:c.1246C>A, NM_001349822.2:c.1168C>A, NM_001349822.1:c.1168C>A, NM_001287809.2:c.1135C>A, NM_001287809.1:c.1135C>A, NR_109896.2:n.1203C>A, NR_109896.1:n.1236C>A, NM_001287808.2:c.784C>A, NM_001287808.1:c.784C>A, XM_047432490.1:c.1162C>A, NP_116182.2:p.Pro418Thr, NP_001129965.1:p.Pro431Thr, NP_001336752.1:p.Pro303Thr, NP_001336750.1:p.Pro416Thr, NP_001336751.1:p.Pro390Thr, NP_001274738.1:p.Pro379Thr, NP_001274737.1:p.Pro262Thr, XP_047288446.1:p.Pro388Thr

Select item 14711657959.

rs1471165795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39965243 (GRCh38)
1:40430915 (GRCh37)
Canonical SPDI:: NC_000001.11:39965242:C:T
Gene:: MFSD2A (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_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_000001.11:g.39965243C>T, NC_000001.10:g.40430915C>T, NG_053084.1:g.15132C>T, NM_032793.5:c.386C>T, NM_032793.4:c.386C>T, NM_032793.3:c.386C>T, NM_001136493.3:c.425C>T, NM_001136493.2:c.425C>T, NM_001136493.1:c.425C>T, NM_001349823.2:c.41C>T, NM_001349823.1:c.41C>T, NM_001349821.2:c.380C>T, NM_001349821.1:c.380C>T, NM_001349822.2:c.386C>T, NM_001349822.1:c.386C>T, NM_001287809.2:c.275C>T, NM_001287809.1:c.275C>T, NR_109896.2:n.534C>T, NR_109896.1:n.567C>T, NM_001287808.2:c.-83C>T, NM_001287808.1:c.-83C>T, XM_047432490.1:c.380C>T, NP_116182.2:p.Ala129Val, NP_001129965.1:p.Ala142Val, NP_001336752.1:p.Ala14Val, NP_001336750.1:p.Ala127Val, NP_001336751.1:p.Ala129Val, NP_001274738.1:p.Ala92Val, XP_047288446.1:p.Ala127Val

Select item 146906768210.

rs1469067682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:39957114 (GRCh38)
1:40422786 (GRCh37)
Canonical SPDI:: NC_000001.11:39957113:T:G
Gene:: MFSD2A (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39957114T>G, NC_000001.10:g.40422786T>G, NG_053084.1:g.7003T>G, NM_032793.5:c.121T>G, NM_032793.4:c.121T>G, NM_032793.3:c.121T>G, NM_001136493.3:c.121T>G, NM_001136493.2:c.121T>G, NM_001136493.1:c.121T>G, NM_001349823.2:c.-225T>G, NM_001349823.1:c.-225T>G, NM_001349821.2:c.115T>G, NM_001349821.1:c.115T>G, NM_001349822.2:c.121T>G, NM_001349822.1:c.121T>G, NR_109896.2:n.269T>G, NR_109896.1:n.302T>G, XM_047432490.1:c.115T>G, NP_116182.2:p.Leu41Val, NP_001129965.1:p.Leu41Val, NP_001336750.1:p.Leu39Val, NP_001336751.1:p.Leu41Val, XP_047288446.1:p.Leu39Val

Select item 146819809211.

rs1468198092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39968715 (GRCh38)
1:40434387 (GRCh37)
Canonical SPDI:: NC_000001.11:39968714:G:A
Gene:: MFSD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.39968715G>A, NC_000001.10:g.40434387G>A, NG_053084.1:g.18604G>A, NM_032793.5:c.1499G>A, NM_032793.4:c.1499G>A, NM_032793.3:c.1499G>A, NM_001136493.3:c.1538G>A, NM_001136493.2:c.1538G>A, NM_001136493.1:c.1538G>A, NM_001349823.2:c.1154G>A, NM_001349823.1:c.1154G>A, NM_001349821.2:c.1493G>A, NM_001349821.1:c.1493G>A, NM_001349822.2:c.1415G>A, NM_001349822.1:c.1415G>A, NM_001287809.2:c.1382G>A, NM_001287809.1:c.1382G>A, NR_109896.2:n.1450G>A, NR_109896.1:n.1483G>A, NM_001287808.2:c.1031G>A, NM_001287808.1:c.1031G>A, XM_047432490.1:c.1409G>A, NP_116182.2:p.Arg500Gln, NP_001129965.1:p.Arg513Gln, NP_001336752.1:p.Arg385Gln, NP_001336750.1:p.Arg498Gln, NP_001336751.1:p.Arg472Gln, NP_001274738.1:p.Arg461Gln, NP_001274737.1:p.Arg344Gln, XP_047288446.1:p.Arg470Gln

Select item 146755091912.

rs1467550919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39966619 (GRCh38)
1:40432291 (GRCh37)
Canonical SPDI:: NC_000001.11:39966618:G:A
Gene:: MFSD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.39966619G>A, NC_000001.10:g.40432291G>A, NG_053084.1:g.16508G>A, NM_032793.5:c.733G>A, NM_032793.4:c.733G>A, NM_032793.3:c.733G>A, NM_001136493.3:c.772G>A, NM_001136493.2:c.772G>A, NM_001136493.1:c.772G>A, NM_001349823.2:c.388G>A, NM_001349823.1:c.388G>A, NM_001349821.2:c.727G>A, NM_001349821.1:c.727G>A, NM_001349822.2:c.733G>A, NM_001349822.1:c.733G>A, NM_001287809.2:c.616G>A, NM_001287809.1:c.616G>A, NR_109896.2:n.881G>A, NR_109896.1:n.914G>A, NM_001287808.2:c.265G>A, NM_001287808.1:c.265G>A, XM_047432490.1:c.727G>A, NP_116182.2:p.Ala245Thr, NP_001129965.1:p.Ala258Thr, NP_001336752.1:p.Ala130Thr, NP_001336750.1:p.Ala243Thr, NP_001336751.1:p.Ala245Thr, NP_001274738.1:p.Ala206Thr, NP_001274737.1:p.Ala89Thr, XP_047288446.1:p.Ala243Thr

Select item 146421189813.

rs1464211898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39968699 (GRCh38)
1:40434371 (GRCh37)
Canonical SPDI:: NC_000001.11:39968698:G:A
Gene:: MFSD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000001.11:g.39968699G>A, NC_000001.10:g.40434371G>A, NG_053084.1:g.18588G>A, NM_032793.5:c.1483G>A, NM_032793.4:c.1483G>A, NM_032793.3:c.1483G>A, NM_001136493.3:c.1522G>A, NM_001136493.2:c.1522G>A, NM_001136493.1:c.1522G>A, NM_001349823.2:c.1138G>A, NM_001349823.1:c.1138G>A, NM_001349821.2:c.1477G>A, NM_001349821.1:c.1477G>A, NM_001349822.2:c.1399G>A, NM_001349822.1:c.1399G>A, NM_001287809.2:c.1366G>A, NM_001287809.1:c.1366G>A, NR_109896.2:n.1434G>A, NR_109896.1:n.1467G>A, NM_001287808.2:c.1015G>A, NM_001287808.1:c.1015G>A, XM_047432490.1:c.1393G>A, NP_116182.2:p.Asp495Asn, NP_001129965.1:p.Asp508Asn, NP_001336752.1:p.Asp380Asn, NP_001336750.1:p.Asp493Asn, NP_001336751.1:p.Asp467Asn, NP_001274738.1:p.Asp456Asn, NP_001274737.1:p.Asp339Asn, XP_047288446.1:p.Asp465Asn

Select item 146420135914.

rs1464201359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39966866 (GRCh38)
1:40432538 (GRCh37)
Canonical SPDI:: NC_000001.11:39966865:G:A
Gene:: MFSD2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39966866G>A, NC_000001.10:g.40432538G>A, NG_053084.1:g.16755G>A, NM_032793.5:c.861G>A, NM_032793.4:c.861G>A, NM_032793.3:c.861G>A, NM_001136493.3:c.900G>A, NM_001136493.2:c.900G>A, NM_001136493.1:c.900G>A, NM_001349823.2:c.516G>A, NM_001349823.1:c.516G>A, NM_001349821.2:c.855G>A, NM_001349821.1:c.855G>A, NM_001349822.2:c.861G>A, NM_001349822.1:c.861G>A, NM_001287809.2:c.744G>A, NM_001287809.1:c.744G>A, NR_109896.2:n.1009G>A, NR_109896.1:n.1042G>A, NM_001287808.2:c.393G>A, NM_001287808.1:c.393G>A, XM_047432490.1:c.855G>A

Select item 146323172115.

rs1463231721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39967889 (GRCh38)
1:40433561 (GRCh37)
Canonical SPDI:: NC_000001.11:39967888:G:A
Gene:: MFSD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.39967889G>A, NC_000001.10:g.40433561G>A, NG_053084.1:g.17778G>A, NM_032793.5:c.1181G>A, NM_032793.4:c.1181G>A, NM_032793.3:c.1181G>A, NM_001136493.3:c.1220G>A, NM_001136493.2:c.1220G>A, NM_001136493.1:c.1220G>A, NM_001349823.2:c.836G>A, NM_001349823.1:c.836G>A, NM_001349821.2:c.1175G>A, NM_001349821.1:c.1175G>A, NM_001349822.2:c.1097G>A, NM_001349822.1:c.1097G>A, NM_001287809.2:c.1064G>A, NM_001287809.1:c.1064G>A, NM_001287808.2:c.713G>A, NM_001287808.1:c.713G>A, XM_047432490.1:c.1091G>A, NP_116182.2:p.Ser394Asn, NP_001129965.1:p.Ser407Asn, NP_001336752.1:p.Ser279Asn, NP_001336750.1:p.Ser392Asn, NP_001336751.1:p.Ser366Asn, NP_001274738.1:p.Ser355Asn, NP_001274737.1:p.Ser238Asn, XP_047288446.1:p.Ser364Asn

Select item 145796822016.

rs1457968220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:39955359 (GRCh38)
1:40421031 (GRCh37)
Canonical SPDI:: NC_000001.11:39955358:A:G
Gene:: MFSD2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.39955359A>G, NC_000001.10:g.40421031A>G, NG_053084.1:g.5248A>G, NM_032793.5:c.67A>G, NM_032793.4:c.67A>G, NM_032793.3:c.67A>G, NM_001136493.3:c.67A>G, NM_001136493.2:c.67A>G, NM_001136493.1:c.67A>G, NM_001349823.2:c.-275A>G, NM_001349823.1:c.-275A>G, NM_001349821.2:c.67A>G, NM_001349821.1:c.67A>G, NM_001349822.2:c.67A>G, NM_001349822.1:c.67A>G, NM_001287809.2:c.67A>G, NM_001287809.1:c.67A>G, NR_109896.2:n.215A>G, NR_109896.1:n.248A>G, NM_001287808.2:c.-142A>G, NM_001287808.1:c.-142A>G, XM_047432490.1:c.67A>G, NP_116182.2:p.Ser23Gly, NP_001129965.1:p.Ser23Gly, NP_001336750.1:p.Ser23Gly, NP_001336751.1:p.Ser23Gly, NP_001274738.1:p.Ser23Gly, XP_047288446.1:p.Ser23Gly

Select item 145695640117.

rs1456956401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39968612 (GRCh38)
1:40434284 (GRCh37)
Canonical SPDI:: NC_000001.11:39968611:G:A
Gene:: MFSD2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.39968612G>A, NC_000001.10:g.40434284G>A, NG_053084.1:g.18501G>A, NM_032793.5:c.1396G>A, NM_032793.4:c.1396G>A, NM_032793.3:c.1396G>A, NM_001136493.3:c.1435G>A, NM_001136493.2:c.1435G>A, NM_001136493.1:c.1435G>A, NM_001349823.2:c.1051G>A, NM_001349823.1:c.1051G>A, NM_001349821.2:c.1390G>A, NM_001349821.1:c.1390G>A, NM_001349822.2:c.1312G>A, NM_001349822.1:c.1312G>A, NM_001287809.2:c.1279G>A, NM_001287809.1:c.1279G>A, NR_109896.2:n.1347G>A, NR_109896.1:n.1380G>A, NM_001287808.2:c.928G>A, NM_001287808.1:c.928G>A, XM_047432490.1:c.1306G>A, NP_116182.2:p.Val466Ile, NP_001129965.1:p.Val479Ile, NP_001336752.1:p.Val351Ile, NP_001336750.1:p.Val464Ile, NP_001336751.1:p.Val438Ile, NP_001274738.1:p.Val427Ile, NP_001274737.1:p.Val310Ile, XP_047288446.1:p.Val436Ile

Select item 145683773418.

rs1456837734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39965959 (GRCh38)
1:40431631 (GRCh37)
Canonical SPDI:: NC_000001.11:39965958:C:T
Gene:: MFSD2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39965959C>T, NC_000001.10:g.40431631C>T, NG_053084.1:g.15848C>T, NM_032793.5:c.659C>T, NM_032793.4:c.659C>T, NM_032793.3:c.659C>T, NM_001136493.3:c.698C>T, NM_001136493.2:c.698C>T, NM_001136493.1:c.698C>T, NM_001349823.2:c.314C>T, NM_001349823.1:c.314C>T, NM_001349821.2:c.653C>T, NM_001349821.1:c.653C>T, NM_001349822.2:c.659C>T, NM_001349822.1:c.659C>T, NM_001287809.2:c.548C>T, NM_001287809.1:c.548C>T, NR_109896.2:n.807C>T, NR_109896.1:n.840C>T, NM_001287808.2:c.191C>T, NM_001287808.1:c.191C>T, XM_047432490.1:c.653C>T, NP_116182.2:p.Thr220Ile, NP_001129965.1:p.Thr233Ile, NP_001336752.1:p.Thr105Ile, NP_001336750.1:p.Thr218Ile, NP_001336751.1:p.Thr220Ile, NP_001274738.1:p.Thr183Ile, NP_001274737.1:p.Thr64Ile, XP_047288446.1:p.Thr218Ile

Select item 145391879319.

rs1453918793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39968629 (GRCh38)
1:40434301 (GRCh37)
Canonical SPDI:: NC_000001.11:39968628:C:T
Gene:: MFSD2A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39968629C>T, NC_000001.10:g.40434301C>T, NG_053084.1:g.18518C>T, NM_032793.5:c.1413C>T, NM_032793.4:c.1413C>T, NM_032793.3:c.1413C>T, NM_001136493.3:c.1452C>T, NM_001136493.2:c.1452C>T, NM_001136493.1:c.1452C>T, NM_001349823.2:c.1068C>T, NM_001349823.1:c.1068C>T, NM_001349821.2:c.1407C>T, NM_001349821.1:c.1407C>T, NM_001349822.2:c.1329C>T, NM_001349822.1:c.1329C>T, NM_001287809.2:c.1296C>T, NM_001287809.1:c.1296C>T, NR_109896.2:n.1364C>T, NR_109896.1:n.1397C>T, NM_001287808.2:c.945C>T, NM_001287808.1:c.945C>T, XM_047432490.1:c.1323C>T

Select item 145158136620.

rs1451581366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:39965859 (GRCh38)
1:40431531 (GRCh37)
Canonical SPDI:: NC_000001.11:39965858:A:G
Gene:: MFSD2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.39965859A>G, NC_000001.10:g.40431531A>G, NG_053084.1:g.15748A>G, NM_032793.5:c.559A>G, NM_032793.4:c.559A>G, NM_032793.3:c.559A>G, NM_001136493.3:c.598A>G, NM_001136493.2:c.598A>G, NM_001136493.1:c.598A>G, NM_001349823.2:c.214A>G, NM_001349823.1:c.214A>G, NM_001349821.2:c.553A>G, NM_001349821.1:c.553A>G, NM_001349822.2:c.559A>G, NM_001349822.1:c.559A>G, NM_001287809.2:c.448A>G, NM_001287809.1:c.448A>G, NR_109896.2:n.707A>G, NR_109896.1:n.740A>G, NM_001287808.2:c.91A>G, NM_001287808.1:c.91A>G, XM_047432490.1:c.553A>G, NP_116182.2:p.Met187Val, NP_001129965.1:p.Met200Val, NP_001336752.1:p.Met72Val, NP_001336750.1:p.Met185Val, NP_001336751.1:p.Met187Val, NP_001274738.1:p.Met150Val, NP_001274737.1:p.Met31Val, XP_047288446.1:p.Met185Val

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Items: 1 to 20 of 427

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