SNP Links for Gene (Select 113655) - SNP

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Select item 14913757021.

rs1491375702 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:144506687 (GRCh38)
8:145732070 (GRCh37)
Canonical SPDI:: NC_000008.11:144506686:CA:
Gene:: GPT (Varview), LOC101928953 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00011/1 (ALFA)
-=0.00003/1 (ExAC)
-=0.00398/47 (GoESP)
HGVS:: NC_000008.11:g.144506687_144506688del, NC_000008.10:g.145732070_145732071del, NG_015828.1:g.7606_7607del

Select item 14908113092.

rs1490811309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:144509640 (GRCh38)
8:145735023 (GRCh37)
Canonical SPDI:: NC_000008.11:144509639:G:A,NC_000008.11:144509639:G:T
Gene:: MFSD3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144509640G>A, NC_000008.11:g.144509640G>T, NC_000008.10:g.145735023G>A, NC_000008.10:g.145735023G>T, NG_016430.2:g.13187C>T, NG_016430.2:g.13187C>A, NM_138431.3:c.307G>A, NM_138431.3:c.307G>T, NM_138431.2:c.307G>A, NM_138431.2:c.307G>T, NM_138431.1:c.307G>A, NM_138431.1:c.307G>T, XM_011516806.3:c.307G>A, XM_011516806.3:c.307G>T, XM_011516806.2:c.307G>A, XM_011516806.2:c.307G>T, XM_011516806.1:c.307G>A, XM_011516806.1:c.307G>T, XM_017013005.2:c.307G>A, XM_017013005.2:c.307G>T, XM_017013005.1:c.307G>A, XM_017013005.1:c.307G>T, NR_130120.2:n.571G>A, NR_130120.2:n.571G>T, NR_130120.1:n.605G>A, NR_130120.1:n.605G>T, NP_612440.1:p.Gly103Arg, NP_612440.1:p.Gly103Trp, XP_011515108.1:p.Gly103Arg, XP_011515108.1:p.Gly103Trp, XP_016868494.1:p.Gly103Arg, XP_016868494.1:p.Gly103Trp

Select item 14904903503.

rs1490490350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144507467 (GRCh38)
8:145732850 (GRCh37)
Canonical SPDI:: NC_000008.11:144507466:G:A
Gene:: GPT (Varview), MFSD3 (Varview), LOC101928953 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144507467G>A, NC_000008.10:g.145732850G>A, NG_015828.1:g.8386G>A

Select item 14903568614.

rs1490356861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144508113 (GRCh38)
8:145733496 (GRCh37)
Canonical SPDI:: NC_000008.11:144508112:G:A
Gene:: MFSD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144508113G>A, NC_000008.10:g.145733496G>A, NG_015828.1:g.9032G>A

Select item 14902047215.

rs1490204721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144509066 (GRCh38)
8:145734449 (GRCh37)
Canonical SPDI:: NC_000008.11:144509065:C:T
Gene:: MFSD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144509066C>T, NC_000008.10:g.145734449C>T, NG_015828.1:g.9985C>T, NM_138431.2:c.-268C>T, NR_130120.1:n.31C>T

Select item 14901941626.

rs1490194162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:144508450 (GRCh38)
8:145733833 (GRCh37)
Canonical SPDI:: NC_000008.11:144508449:A:C
Gene:: MFSD3 (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_000008.11:g.144508450A>C, NC_000008.10:g.145733833A>C, NG_015828.1:g.9369A>C

Select item 14892312357.

rs1489231235 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:144510765 (GRCh38)
8:145736149 (GRCh37)
Canonical SPDI:: NC_000008.11:144510765:GGGG:GGGGG
Gene:: MFSD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144510769dup, NC_000008.10:g.145736152dup, NG_016430.2:g.12061dup

Select item 14891654838.

rs1489165483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:144509393 (GRCh38)
8:145734776 (GRCh37)
Canonical SPDI:: NC_000008.11:144509392:G:C,NC_000008.11:144509392:G:T
Gene:: MFSD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.144509393G>C, NC_000008.11:g.144509393G>T, NC_000008.10:g.145734776G>C, NC_000008.10:g.145734776G>T, NG_016430.2:g.13434C>G, NG_016430.2:g.13434C>A, NM_138431.3:c.60G>C, NM_138431.3:c.60G>T, NM_138431.2:c.60G>C, NM_138431.2:c.60G>T, NM_138431.1:c.60G>C, NM_138431.1:c.60G>T, XM_011516806.3:c.60G>C, XM_011516806.3:c.60G>T, XM_011516806.2:c.60G>C, XM_011516806.2:c.60G>T, XM_011516806.1:c.60G>C, XM_011516806.1:c.60G>T, XM_017013005.2:c.60G>C, XM_017013005.2:c.60G>T, XM_017013005.1:c.60G>C, XM_017013005.1:c.60G>T, NR_130120.2:n.324G>C, NR_130120.2:n.324G>T, NR_130120.1:n.358G>C, NR_130120.1:n.358G>T

Select item 14889607289.

rs1488960728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144508729 (GRCh38)
8:145734112 (GRCh37)
Canonical SPDI:: NC_000008.11:144508728:G:A
Gene:: MFSD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.144508729G>A, NC_000008.10:g.145734112G>A, NG_015828.1:g.9648G>A

Select item 148868109510.

rs1488681095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:144509010 (GRCh38)
8:145734393 (GRCh37)
Canonical SPDI:: NC_000008.11:144509009:A:C
Gene:: MFSD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.144509010A>C, NC_000008.10:g.145734393A>C, NG_015828.1:g.9929A>C

Select item 148842362111.

rs1488423621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144509441 (GRCh38)
8:145734824 (GRCh37)
Canonical SPDI:: NC_000008.11:144509440:G:A
Gene:: MFSD3 (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_000008.11:g.144509441G>A, NC_000008.10:g.145734824G>A, NG_016430.2:g.13386C>T, NM_138431.3:c.108G>A, NM_138431.2:c.108G>A, NM_138431.1:c.108G>A, XM_011516806.3:c.108G>A, XM_011516806.2:c.108G>A, XM_011516806.1:c.108G>A, XM_017013005.2:c.108G>A, XM_017013005.1:c.108G>A, NR_130120.2:n.372G>A, NR_130120.1:n.406G>A

Select item 148832601112.

rs1488326011 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:144507053 (GRCh38)
8:145732437 (GRCh37)
Canonical SPDI:: NC_000008.11:144507053:T:TT
Gene:: GPT (Varview), LOC101928953 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000017/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.144507054dup, NC_000008.10:g.145732437dup, NG_015828.1:g.7973dup, NM_005309.3:c.*54dup, NM_005309.2:c.*54dup, NM_001382665.1:c.*54dup, NR_168476.1:n.1630dup, NM_001382664.1:c.*54dup, NR_168477.1:n.1592dup

Select item 148830375013.

rs1488303750 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGC [Show Flanks]
Chromosome:: 8:144506274 (GRCh38)
8:145731658 (GRCh37)
Canonical SPDI:: NC_000008.11:144506274:GCTGC:GCTGCTGC
Gene:: GPT (Varview), LOC101928953 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_insertion,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: GCT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144506277_144506279dup, NC_000008.10:g.145731660_145731662dup, NG_015828.1:g.7196_7198dup, NM_005309.3:c.1002_1004dup, NM_005309.2:c.1002_1004dup, NM_001382665.1:c.1002_1004dup, NR_168476.1:n.1087_1089dup, NM_001382664.1:c.1002_1004dup, NR_168477.1:n.1049_1051dup, NP_005300.1:p.Ala335dup, NP_001369594.1:p.Ala335dup, NP_001369593.1:p.Ala335dup

Select item 148739154214.

rs1487391542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144511353 (GRCh38)
8:145736736 (GRCh37)
Canonical SPDI:: NC_000008.11:144511352:G:A
Gene:: RECQL4 (Varview), MFSD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.144511353G>A, NC_000008.10:g.145736736G>A, NG_016430.2:g.11474C>T, NM_004260.4:c.*78C>T, NM_004260.3:c.*78C>T, XM_011517384.4:c.*78C>T, XM_011517384.3:c.*78C>T, XM_011517384.2:c.*78C>T, XM_011517384.1:c.*78C>T, XM_047422437.1:c.*78C>T, XM_047422438.1:c.*78C>T, XM_047422439.1:c.*78C>T, XM_047422440.1:c.*78C>T, XM_047422442.1:c.*78C>T, XM_047422445.1:c.*78C>T, XM_047422446.1:c.*78C>T

Select item 148723837915.

rs1487238379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:144511106 (GRCh38)
8:145736489 (GRCh37)
Canonical SPDI:: NC_000008.11:144511105:T:A
Gene:: RECQL4 (Varview), MFSD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144511106T>A, NC_000008.10:g.145736489T>A, NG_016430.2:g.11721A>T, NM_138431.3:c.1181T>A, NM_138431.2:c.1181T>A, NM_138431.1:c.1181T>A, XM_011516806.3:c.*36T>A, XM_011516806.2:c.*36T>A, XM_011516806.1:c.*36T>A, XM_017013005.2:c.1268T>A, XM_017013005.1:c.1268T>A, NR_130120.2:n.1297T>A, NR_130120.1:n.1331T>A, NP_612440.1:p.Leu394His, XP_016868494.1:p.Leu423His

Select item 148683463316.

rs1486834633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144508052 (GRCh38)
8:145733435 (GRCh37)
Canonical SPDI:: NC_000008.11:144508051:A:G
Gene:: MFSD3 (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)
HGVS:: NC_000008.11:g.144508052A>G, NC_000008.10:g.145733435A>G, NG_015828.1:g.8971A>G

Select item 148678202217.

rs1486782022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144511653 (GRCh38)
8:145737036 (GRCh37)
Canonical SPDI:: NC_000008.11:144511652:G:A
Gene:: RECQL4 (Varview), MFSD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144511653G>A, NC_000008.10:g.145737036G>A, NG_016430.2:g.11174C>T

Select item 148636468518.

rs1486364685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144509482 (GRCh38)
8:145734865 (GRCh37)
Canonical SPDI:: NC_000008.11:144509481:G:A
Gene:: MFSD3 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144509482G>A, NC_000008.10:g.145734865G>A, NG_016430.2:g.13345C>T, NM_138431.3:c.149G>A, NM_138431.2:c.149G>A, NM_138431.1:c.149G>A, XM_011516806.3:c.149G>A, XM_011516806.2:c.149G>A, XM_011516806.1:c.149G>A, XM_017013005.2:c.149G>A, XM_017013005.1:c.149G>A, NR_130120.2:n.413G>A, NR_130120.1:n.447G>A, NP_612440.1:p.Trp50Ter, XP_011515108.1:p.Trp50Ter, XP_016868494.1:p.Trp50Ter

Select item 148555485819.

rs1485554858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:144510992 (GRCh38)
8:145736375 (GRCh37)
Canonical SPDI:: NC_000008.11:144510991:C:G,NC_000008.11:144510991:C:T
Gene:: RECQL4 (Varview), MFSD3 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144510992C>G, NC_000008.11:g.144510992C>T, NC_000008.10:g.145736375C>G, NC_000008.10:g.145736375C>T, NG_016430.2:g.11835G>C, NG_016430.2:g.11835G>A, NM_138431.3:c.1067C>G, NM_138431.3:c.1067C>T, NM_138431.2:c.1067C>G, NM_138431.2:c.1067C>T, NM_138431.1:c.1067C>G, NM_138431.1:c.1067C>T, XM_011516806.3:c.1059C>G, XM_011516806.3:c.1059C>T, XM_011516806.2:c.1059C>G, XM_011516806.2:c.1059C>T, XM_011516806.1:c.1059C>G, XM_011516806.1:c.1059C>T, XM_017013005.2:c.1154C>G, XM_017013005.2:c.1154C>T, XM_017013005.1:c.1154C>G, XM_017013005.1:c.1154C>T, NR_130120.2:n.1183C>G, NR_130120.2:n.1183C>T, NR_130120.1:n.1217C>G, NR_130120.1:n.1217C>T, NP_612440.1:p.Ala356Gly, NP_612440.1:p.Ala356Val, XP_016868494.1:p.Ala385Gly, XP_016868494.1:p.Ala385Val

Select item 148521090620.

rs1485210906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144508856 (GRCh38)
8:145734239 (GRCh37)
Canonical SPDI:: NC_000008.11:144508855:G:A
Gene:: MFSD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000008.11:g.144508856G>A, NC_000008.10:g.145734239G>A, NG_015828.1:g.9775G>A

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