SNP Links for Protein (Select 295842556) - SNP

Select item 14877271441.

rs1487727144 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31870845 (GRCh38)
6:31838622 (GRCh37)
Canonical SPDI:: NC_000006.12:31870844:A:G
Gene:: SLC44A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31870845A>G, NC_000006.11:g.31838622A>G, NG_023058.1:g.13202T>C, NM_025257.3:c.904T>C, NM_025257.2:c.904T>C, NM_001178045.2:c.676T>C, NM_001178045.1:c.676T>C, NM_001178044.2:c.778T>C, NM_001178044.1:c.778T>C, NT_113891.3:g.3348270A>G, NT_113891.2:g.3348376A>G, NT_167244.2:g.3203459A>G, NT_167244.1:g.3153375A>G, NT_167245.2:g.3118619A>G, NT_167245.1:g.3124204A>G, NT_167248.2:g.3126815A>G, NT_167248.1:g.3132411A>G, NT_167249.2:g.3172066A>G, NT_167249.1:g.3171364A>G, NT_167247.2:g.3212909A>G, NT_167247.1:g.3218494A>G, NM_032794.1:c.904T>C, NP_079533.2:p.Tyr302His, NP_001171516.1:p.Tyr226His, NP_001171515.1:p.Tyr260His

Select item 14871118622.

rs1487111862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:31874505 (GRCh38)
6:31842282 (GRCh37)
Canonical SPDI:: NC_000006.12:31874504:G:A,NC_000006.12:31874504:G:T
Gene:: SLC44A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000551/8 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31874505G>A, NC_000006.12:g.31874505G>T, NC_000006.11:g.31842282G>A, NC_000006.11:g.31842282G>T, NG_023058.1:g.9542C>T, NG_023058.1:g.9542C>A, NM_025257.3:c.484C>T, NM_025257.3:c.484C>A, NM_025257.2:c.484C>T, NM_025257.2:c.484C>A, NM_001178045.2:c.256C>T, NM_001178045.2:c.256C>A, NM_001178045.1:c.256C>T, NM_001178045.1:c.256C>A, NM_001178044.2:c.358C>T, NM_001178044.2:c.358C>A, NM_001178044.1:c.358C>T, NM_001178044.1:c.358C>A, NT_113891.3:g.3351930G>A, NT_113891.3:g.3351930G>T, NT_113891.2:g.3352036G>A, NT_113891.2:g.3352036G>T, NT_167244.2:g.3207120G>A, NT_167244.2:g.3207120G>T, NT_167244.1:g.3157036G>A, NT_167244.1:g.3157036G>T, NT_167245.2:g.3122279G>A, NT_167245.2:g.3122279G>T, NT_167245.1:g.3127864G>A, NT_167245.1:g.3127864G>T, NT_167248.2:g.3130478G>A, NT_167248.2:g.3130478G>T, NT_167248.1:g.3136074G>A, NT_167248.1:g.3136074G>T, NT_167249.2:g.3175727G>A, NT_167249.2:g.3175727G>T, NT_167249.1:g.3175025G>A, NT_167249.1:g.3175025G>T, NT_167247.2:g.3216570G>A, NT_167247.2:g.3216570G>T, NT_167247.1:g.3222155G>A, NT_167247.1:g.3222155G>T, NM_032794.1:c.484C>T, NM_032794.1:c.484C>A, NP_079533.2:p.Leu162Met, NP_001171516.1:p.Leu86Met, NP_001171515.1:p.Leu120Met

Select item 14864316743.

rs1486431674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:31871334 (GRCh38)
6:31839111 (GRCh37)
Canonical SPDI:: NC_000006.12:31871333:C:G,NC_000006.12:31871333:C:T
Gene:: SLC44A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31871334C>G, NC_000006.12:g.31871334C>T, NC_000006.11:g.31839111C>G, NC_000006.11:g.31839111C>T, NG_023058.1:g.12713G>C, NG_023058.1:g.12713G>A, NM_025257.3:c.681G>C, NM_025257.3:c.681G>A, NM_025257.2:c.681G>C, NM_025257.2:c.681G>A, NM_001178045.2:c.453G>C, NM_001178045.2:c.453G>A, NM_001178045.1:c.453G>C, NM_001178045.1:c.453G>A, NM_001178044.2:c.555G>C, NM_001178044.2:c.555G>A, NM_001178044.1:c.555G>C, NM_001178044.1:c.555G>A, NT_113891.3:g.3348759C>G, NT_113891.3:g.3348759C>T, NT_113891.2:g.3348865C>G, NT_113891.2:g.3348865C>T, NT_167244.2:g.3203948C>G, NT_167244.2:g.3203948C>T, NT_167244.1:g.3153864C>G, NT_167244.1:g.3153864C>T, NT_167245.2:g.3119108C>G, NT_167245.2:g.3119108C>T, NT_167245.1:g.3124693C>G, NT_167245.1:g.3124693C>T, NT_167248.2:g.3127304C>G, NT_167248.2:g.3127304C>T, NT_167248.1:g.3132900C>G, NT_167248.1:g.3132900C>T, NT_167249.2:g.3172555C>G, NT_167249.2:g.3172555C>T, NT_167249.1:g.3171853C>G, NT_167249.1:g.3171853C>T, NT_167247.2:g.3213398C>G, NT_167247.2:g.3213398C>T, NT_167247.1:g.3218983C>G, NT_167247.1:g.3218983C>T, NM_032794.1:c.681G>C, NM_032794.1:c.681G>A, NP_079533.2:p.Gln227His, NP_001171516.1:p.Gln151His, NP_001171515.1:p.Gln185His

Select item 14839430124.

rs1483943012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31869567 (GRCh38)
6:31837344 (GRCh37)
Canonical SPDI:: NC_000006.12:31869566:C:T
Gene:: SLC44A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.31869567C>T, NC_000006.11:g.31837344C>T, NG_023058.1:g.14480G>A, NM_025257.3:c.1108G>A, NM_025257.2:c.1108G>A, NM_001178045.2:c.880G>A, NM_001178045.1:c.880G>A, NM_001178044.2:c.982G>A, NM_001178044.1:c.982G>A, NT_113891.3:g.3346992C>T, NT_113891.2:g.3347098C>T, NT_167244.2:g.3202183C>T, NT_167244.1:g.3152099C>T, NT_167245.2:g.3117341C>T, NT_167245.1:g.3122926C>T, NT_167248.2:g.3125537C>T, NT_167248.1:g.3131133C>T, NT_167249.2:g.3170790C>T, NT_167249.1:g.3170088C>T, NT_167247.2:g.3211633C>T, NT_167247.1:g.3217218C>T, NM_032794.1:c.1108G>A, NP_079533.2:p.Ala370Thr, NP_001171516.1:p.Ala294Thr, NP_001171515.1:p.Ala328Thr

Select item 14821979875.

rs1482197987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:31871516 (GRCh38)
6:31839293 (GRCh37)
Canonical SPDI:: NC_000006.12:31871515:A:T
Gene:: SLC44A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31871516A>T, NC_000006.11:g.31839293A>T, NG_023058.1:g.12531T>A, NM_025257.3:c.575T>A, NM_025257.2:c.575T>A, NM_001178045.2:c.347T>A, NM_001178045.1:c.347T>A, NM_001178044.2:c.449T>A, NM_001178044.1:c.449T>A, NT_113891.3:g.3348941A>T, NT_113891.2:g.3349047A>T, NT_167244.2:g.3204130A>T, NT_167244.1:g.3154046A>T, NT_167245.2:g.3119290A>T, NT_167245.1:g.3124875A>T, NT_167248.2:g.3127486A>T, NT_167248.1:g.3133082A>T, NT_167249.2:g.3172737A>T, NT_167249.1:g.3172035A>T, NT_167247.2:g.3213580A>T, NT_167247.1:g.3219165A>T, NM_032794.1:c.575T>A, NP_079533.2:p.Leu192His, NP_001171516.1:p.Leu116His, NP_001171515.1:p.Leu150His

Select item 14821668446.

rs1482166844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:31870663 (GRCh38)
6:31838440 (GRCh37)
Canonical SPDI:: NC_000006.12:31870662:A:G,NC_000006.12:31870662:A:T
Gene:: SLC44A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31870663A>G, NC_000006.12:g.31870663A>T, NC_000006.11:g.31838440A>G, NC_000006.11:g.31838440A>T, NG_023058.1:g.13384T>C, NG_023058.1:g.13384T>A, NM_025257.3:c.977T>C, NM_025257.3:c.977T>A, NM_025257.2:c.977T>C, NM_025257.2:c.977T>A, NM_001178045.2:c.749T>C, NM_001178045.2:c.749T>A, NM_001178045.1:c.749T>C, NM_001178045.1:c.749T>A, NM_001178044.2:c.851T>C, NM_001178044.2:c.851T>A, NM_001178044.1:c.851T>C, NM_001178044.1:c.851T>A, NT_113891.3:g.3348088A>G, NT_113891.3:g.3348088A>T, NT_113891.2:g.3348194A>G, NT_113891.2:g.3348194A>T, NT_167244.2:g.3203277A>G, NT_167244.2:g.3203277A>T, NT_167244.1:g.3153193A>G, NT_167244.1:g.3153193A>T, NT_167245.2:g.3118437A>G, NT_167245.2:g.3118437A>T, NT_167245.1:g.3124022A>G, NT_167245.1:g.3124022A>T, NT_167248.2:g.3126633A>G, NT_167248.2:g.3126633A>T, NT_167248.1:g.3132229A>G, NT_167248.1:g.3132229A>T, NT_167249.2:g.3171884A>G, NT_167249.2:g.3171884A>T, NT_167249.1:g.3171182A>G, NT_167249.1:g.3171182A>T, NT_167247.2:g.3212727A>G, NT_167247.2:g.3212727A>T, NT_167247.1:g.3218312A>G, NT_167247.1:g.3218312A>T, NM_032794.1:c.977T>C, NM_032794.1:c.977T>A, NP_079533.2:p.Met326Thr, NP_079533.2:p.Met326Lys, NP_001171516.1:p.Met250Thr, NP_001171516.1:p.Met250Lys, NP_001171515.1:p.Met284Thr, NP_001171515.1:p.Met284Lys

Select item 14821173987.

rs1482117398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31865985 (GRCh38)
6:31833762 (GRCh37)
Canonical SPDI:: NC_000006.12:31865984:C:T
Gene:: SLC44A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.31865985C>T, NC_000006.11:g.31833762C>T, NG_023058.1:g.18062G>A, NM_025257.3:c.1375G>A, NM_025257.2:c.1375G>A, NM_001178045.2:c.1147G>A, NM_001178045.1:c.1147G>A, NM_001178044.2:c.1249G>A, NM_001178044.1:c.1249G>A, NG_008201.1:g.1948G>A, NT_113891.3:g.3343403C>T, NT_113891.2:g.3343509C>T, NT_167244.2:g.3198601C>T, NT_167244.1:g.3148517C>T, NT_167245.2:g.3113763C>T, NT_167245.1:g.3119348C>T, NT_167248.2:g.3121958C>T, NT_167248.1:g.3127554C>T, NT_167249.2:g.3167212C>T, NT_167249.1:g.3166510C>T, NT_167247.2:g.3208055C>T, NT_167247.1:g.3213640C>T, NM_032794.1:c.1375G>A, NP_079533.2:p.Ala459Thr, NP_001171516.1:p.Ala383Thr, NP_001171515.1:p.Ala417Thr

Select item 14776640538.

rs1477664053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31865923 (GRCh38)
6:31833700 (GRCh37)
Canonical SPDI:: NC_000006.12:31865922:G:C
Gene:: SLC44A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31865923G>C, NC_000006.11:g.31833700G>C, NG_023058.1:g.18124C>G, NM_025257.3:c.1437C>G, NM_025257.2:c.1437C>G, NM_001178045.2:c.1209C>G, NM_001178045.1:c.1209C>G, NM_001178044.2:c.1311C>G, NM_001178044.1:c.1311C>G, NG_008201.1:g.2010C>G, NT_113891.3:g.3343341G>C, NT_113891.2:g.3343447G>C, NT_167244.2:g.3198539G>C, NT_167244.1:g.3148455G>C, NT_167245.2:g.3113701G>C, NT_167245.1:g.3119286G>C, NT_167248.2:g.3121896G>C, NT_167248.1:g.3127492G>C, NT_167249.2:g.3167150G>C, NT_167249.1:g.3166448G>C, NT_167247.2:g.3207993G>C, NT_167247.1:g.3213578G>C, NM_032794.1:c.1437C>G

Select item 14764559509.

rs1476455950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31865374 (GRCh38)
6:31833151 (GRCh37)
Canonical SPDI:: NC_000006.12:31865373:C:T
Gene:: SLC44A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31865374C>T, NC_000006.11:g.31833151C>T, NG_023058.1:g.18673G>A, NM_025257.3:c.1701G>A, NM_025257.2:c.1701G>A, NM_001178045.2:c.1473G>A, NM_001178045.1:c.1473G>A, NM_001178044.2:c.1575G>A, NM_001178044.1:c.1575G>A, NG_008201.1:g.2559G>A, NT_113891.3:g.3342792C>T, NT_113891.2:g.3342898C>T, NT_167244.2:g.3197990C>T, NT_167244.1:g.3147906C>T, NT_167245.2:g.3113152C>T, NT_167245.1:g.3118737C>T, NT_167248.2:g.3121347C>T, NT_167248.1:g.3126943C>T, NT_167249.2:g.3166601C>T, NT_167249.1:g.3165899C>T, NT_167247.2:g.3207444C>T, NT_167247.1:g.3213029C>T, NM_032794.1:c.1701G>A

Select item 147575824710.

rs1475758247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31863637 (GRCh38)
6:31831414 (GRCh37)
Canonical SPDI:: NC_000006.12:31863636:C:T
Gene:: NEU1 (Varview), SLC44A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31863637C>T, NC_000006.11:g.31831414C>T, NG_023058.1:g.20410G>A, NM_025257.3:c.2123G>A, NM_025257.2:c.2123G>A, NM_001178045.2:c.1895G>A, NM_001178045.1:c.1895G>A, NM_001178044.2:c.1997G>A, NM_001178044.1:c.1997G>A, NG_008201.1:g.4296G>A, NT_113891.3:g.3341055C>T, NT_113891.2:g.3341161C>T, NT_167244.2:g.3196253C>T, NT_167244.1:g.3146169C>T, NT_167245.2:g.3111415C>T, NT_167245.1:g.3117000C>T, NT_167248.2:g.3119609C>T, NT_167248.1:g.3125205C>T, NT_167249.2:g.3164864C>T, NT_167249.1:g.3164162C>T, NT_167247.2:g.3205707C>T, NT_167247.1:g.3211292C>T, NM_032794.1:c.2123G>A, NP_079533.2:p.Arg708Lys, NP_001171516.1:p.Arg632Lys, NP_001171515.1:p.Arg666Lys

Select item 147556585211.

rs1475565852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31874941 (GRCh38)
6:31842718 (GRCh37)
Canonical SPDI:: NC_000006.12:31874940:G:A
Gene:: SLC44A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31874941G>A, NC_000006.11:g.31842718G>A, NG_023058.1:g.9106C>T, NM_025257.3:c.330C>T, NM_025257.2:c.330C>T, NM_001178045.2:c.102C>T, NM_001178045.1:c.102C>T, NM_001178044.2:c.330C>T, NM_001178044.1:c.330C>T, NT_113891.3:g.3352366G>A, NT_113891.2:g.3352472G>A, NT_167244.2:g.3207556G>A, NT_167244.1:g.3157472G>A, NT_167245.2:g.3122715G>A, NT_167245.1:g.3128300G>A, NT_167248.2:g.3130914G>A, NT_167248.1:g.3136510G>A, NT_167249.2:g.3176163G>A, NT_167249.1:g.3175461G>A, NT_167247.2:g.3217006G>A, NT_167247.1:g.3222591G>A, NM_032794.1:c.330C>T

Select item 147253729612.

rs1472537296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31870667 (GRCh38)
6:31838444 (GRCh37)
Canonical SPDI:: NC_000006.12:31870666:G:A
Gene:: SLC44A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.31870667G>A, NC_000006.11:g.31838444G>A, NG_023058.1:g.13380C>T, NM_025257.3:c.973C>T, NM_025257.2:c.973C>T, NM_001178045.2:c.745C>T, NM_001178045.1:c.745C>T, NM_001178044.2:c.847C>T, NM_001178044.1:c.847C>T, NT_113891.3:g.3348092G>A, NT_113891.2:g.3348198G>A, NT_167244.2:g.3203281G>A, NT_167244.1:g.3153197G>A, NT_167245.2:g.3118441G>A, NT_167245.1:g.3124026G>A, NT_167248.2:g.3126637G>A, NT_167248.1:g.3132233G>A, NT_167249.2:g.3171888G>A, NT_167249.1:g.3171186G>A, NT_167247.2:g.3212731G>A, NT_167247.1:g.3218316G>A, NM_032794.1:c.973C>T

Select item 147240245313.

rs1472402453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31871523 (GRCh38)
6:31839300 (GRCh37)
Canonical SPDI:: NC_000006.12:31871522:G:C
Gene:: SLC44A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31871523G>C, NC_000006.11:g.31839300G>C, NG_023058.1:g.12524C>G, NM_025257.3:c.568C>G, NM_025257.2:c.568C>G, NM_001178045.2:c.340C>G, NM_001178045.1:c.340C>G, NM_001178044.2:c.442C>G, NM_001178044.1:c.442C>G, NT_113891.3:g.3348948G>C, NT_113891.2:g.3349054G>C, NT_167244.2:g.3204137G>C, NT_167244.1:g.3154053G>C, NT_167245.2:g.3119297G>C, NT_167245.1:g.3124882G>C, NT_167248.2:g.3127493G>C, NT_167248.1:g.3133089G>C, NT_167249.2:g.3172744G>C, NT_167249.1:g.3172042G>C, NT_167247.2:g.3213587G>C, NT_167247.1:g.3219172G>C, NM_032794.1:c.568C>G, NP_079533.2:p.Pro190Ala, NP_001171516.1:p.Pro114Ala, NP_001171515.1:p.Pro148Ala

Select item 147090191814.

rs1470901918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31874947 (GRCh38)
6:31842724 (GRCh37)
Canonical SPDI:: NC_000006.12:31874946:T:C
Gene:: SLC44A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31874947T>C, NC_000006.11:g.31842724T>C, NG_023058.1:g.9100A>G, NM_025257.3:c.324A>G, NM_025257.2:c.324A>G, NM_001178045.2:c.96A>G, NM_001178045.1:c.96A>G, NM_001178044.2:c.324A>G, NM_001178044.1:c.324A>G, NT_113891.3:g.3352372T>C, NT_113891.2:g.3352478T>C, NT_167244.2:g.3207562T>C, NT_167244.1:g.3157478T>C, NT_167245.2:g.3122721T>C, NT_167245.1:g.3128306T>C, NT_167248.2:g.3130920T>C, NT_167248.1:g.3136516T>C, NT_167249.2:g.3176169T>C, NT_167249.1:g.3175467T>C, NT_167247.2:g.3217012T>C, NT_167247.1:g.3222597T>C, NM_032794.1:c.324A>G

Select item 146891002315.

rs1468910023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31865070 (GRCh38)
6:31832847 (GRCh37)
Canonical SPDI:: NC_000006.12:31865069:G:A
Gene:: SLC44A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.31865070G>A, NC_000006.11:g.31832847G>A, NG_023058.1:g.18977C>T, NM_025257.3:c.1771C>T, NM_025257.2:c.1771C>T, NM_001178045.2:c.1543C>T, NM_001178045.1:c.1543C>T, NM_001178044.2:c.1645C>T, NM_001178044.1:c.1645C>T, NG_008201.1:g.2863C>T, NT_113891.3:g.3342488G>A, NT_113891.2:g.3342594G>A, NT_167244.2:g.3197686G>A, NT_167244.1:g.3147602G>A, NT_167245.2:g.3112848G>A, NT_167245.1:g.3118433G>A, NT_167248.2:g.3121043G>A, NT_167248.1:g.3126639G>A, NT_167249.2:g.3166297G>A, NT_167249.1:g.3165595G>A, NT_167247.2:g.3207140G>A, NT_167247.1:g.3212725G>A, NM_032794.1:c.1771C>T

Select item 146364064816.

rs1463640648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31864731 (GRCh38)
6:31832508 (GRCh37)
Canonical SPDI:: NC_000006.12:31864730:G:A
Gene:: NEU1 (Varview), SLC44A4 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31864731G>A, NC_000006.11:g.31832508G>A, NG_023058.1:g.19316C>T, NM_025257.3:c.1932C>T, NM_025257.2:c.1932C>T, NM_001178045.2:c.1704C>T, NM_001178045.1:c.1704C>T, NM_001178044.2:c.1806C>T, NM_001178044.1:c.1806C>T, NG_008201.1:g.3202C>T, NT_113891.3:g.3342149G>A, NT_113891.2:g.3342255G>A, NT_167244.2:g.3197347G>A, NT_167244.1:g.3147263G>A, NT_167245.2:g.3112509G>A, NT_167245.1:g.3118094G>A, NT_167248.2:g.3120704G>A, NT_167248.1:g.3126300G>A, NT_167249.2:g.3165958G>A, NT_167249.1:g.3165256G>A, NT_167247.2:g.3206801G>A, NT_167247.1:g.3212386G>A, NM_032794.1:c.1932C>T

Select item 146260847417.

rs1462608474 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGC>- [Show Flanks]
Chromosome:: 6:31865581 (GRCh38)
6:31833358 (GRCh37)
Canonical SPDI:: NC_000006.12:31865578:GCGGGC:GC
Gene:: SLC44A4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.31865581_31865584del, NC_000006.11:g.31833358_31833361del, NG_023058.1:g.18465_18468del, NM_025257.3:c.1602_1605del, NM_025257.2:c.1602_1605del, NM_001178045.2:c.1374_1377del, NM_001178045.1:c.1374_1377del, NM_001178044.2:c.1476_1479del, NM_001178044.1:c.1476_1479del, NG_008201.1:g.2351_2354del, NT_113891.3:g.3342999_3343002del, NT_113891.2:g.3343105_3343108del, NT_167244.2:g.3198197_3198200del, NT_167244.1:g.3148113_3148116del, NT_167245.2:g.3113359_3113362del, NT_167245.1:g.3118944_3118947del, NT_167248.2:g.3121554_3121557del, NT_167248.1:g.3127150_3127153del, NT_167249.2:g.3166808_3166811del, NT_167249.1:g.3166106_3166109del, NT_167247.2:g.3207651_3207654del, NT_167247.1:g.3213236_3213239del, NM_032794.1:c.1602_1605del, NP_079533.2:p.Arg535fs, NP_001171516.1:p.Arg459fs, NP_001171515.1:p.Arg493fs

Select item 146064953718.

rs1460649537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:31864704 (GRCh38)
6:31832481 (GRCh37)
Canonical SPDI:: NC_000006.12:31864703:G:A,NC_000006.12:31864703:G:T
Gene:: NEU1 (Varview), SLC44A4 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31864704G>A, NC_000006.12:g.31864704G>T, NC_000006.11:g.31832481G>A, NC_000006.11:g.31832481G>T, NG_023058.1:g.19343C>T, NG_023058.1:g.19343C>A, NM_025257.3:c.1959C>T, NM_025257.3:c.1959C>A, NM_025257.2:c.1959C>T, NM_025257.2:c.1959C>A, NM_001178045.2:c.1731C>T, NM_001178045.2:c.1731C>A, NM_001178045.1:c.1731C>T, NM_001178045.1:c.1731C>A, NM_001178044.2:c.1833C>T, NM_001178044.2:c.1833C>A, NM_001178044.1:c.1833C>T, NM_001178044.1:c.1833C>A, NG_008201.1:g.3229C>T, NG_008201.1:g.3229C>A, NT_113891.3:g.3342122G>A, NT_113891.3:g.3342122G>T, NT_113891.2:g.3342228G>A, NT_113891.2:g.3342228G>T, NT_167244.2:g.3197320G>A, NT_167244.2:g.3197320G>T, NT_167244.1:g.3147236G>A, NT_167244.1:g.3147236G>T, NT_167245.2:g.3112482G>A, NT_167245.2:g.3112482G>T, NT_167245.1:g.3118067G>A, NT_167245.1:g.3118067G>T, NT_167248.2:g.3120677G>A, NT_167248.2:g.3120677G>T, NT_167248.1:g.3126273G>A, NT_167248.1:g.3126273G>T, NT_167249.2:g.3165931G>A, NT_167249.2:g.3165931G>T, NT_167249.1:g.3165229G>A, NT_167249.1:g.3165229G>T, NT_167247.2:g.3206774G>A, NT_167247.2:g.3206774G>T, NT_167247.1:g.3212359G>A, NT_167247.1:g.3212359G>T, NM_032794.1:c.1959C>T, NM_032794.1:c.1959C>A, NP_079533.2:p.Ser653Arg, NP_001171516.1:p.Ser577Arg, NP_001171515.1:p.Ser611Arg

Select item 145925764419.

rs1459257644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31870864 (GRCh38)
6:31838641 (GRCh37)
Canonical SPDI:: NC_000006.12:31870863:G:A
Gene:: SLC44A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.31870864G>A, NC_000006.11:g.31838641G>A, NG_023058.1:g.13183C>T, NM_025257.3:c.885C>T, NM_025257.2:c.885C>T, NM_001178045.2:c.657C>T, NM_001178045.1:c.657C>T, NM_001178044.2:c.759C>T, NM_001178044.1:c.759C>T, NT_113891.3:g.3348289G>A, NT_113891.2:g.3348395G>A, NT_167244.2:g.3203478G>A, NT_167244.1:g.3153394G>A, NT_167245.2:g.3118638G>A, NT_167245.1:g.3124223G>A, NT_167248.2:g.3126834G>A, NT_167248.1:g.3132430G>A, NT_167249.2:g.3172085G>A, NT_167249.1:g.3171383G>A, NT_167247.2:g.3212928G>A, NT_167247.1:g.3218513G>A, NM_032794.1:c.885C>T

Select item 145736657720.

rs1457366577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31869200 (GRCh38)
6:31836977 (GRCh37)
Canonical SPDI:: NC_000006.12:31869199:G:A
Gene:: SLC44A4 (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=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.31869200G>A, NC_000006.11:g.31836977G>A, NG_023058.1:g.14847C>T, NM_025257.3:c.1188C>T, NM_025257.2:c.1188C>T, NM_001178045.2:c.960C>T, NM_001178045.1:c.960C>T, NM_001178044.2:c.1062C>T, NM_001178044.1:c.1062C>T, NT_113891.3:g.3346625G>A, NT_113891.2:g.3346731G>A, NT_167244.2:g.3201816G>A, NT_167244.1:g.3151732G>A, NT_167245.2:g.3116974G>A, NT_167245.1:g.3122559G>A, NT_167248.2:g.3125170G>A, NT_167248.1:g.3130766G>A, NT_167249.2:g.3170423G>A, NT_167249.1:g.3169721G>A, NT_167247.2:g.3211266G>A, NT_167247.1:g.3216851G>A, NM_032794.1:c.1188C>T

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Result Filters

Clinical Significance

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Items: 1 to 20 of 625

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