SNP Links for Protein (Select 39752685) - SNP

Links from Protein

Items: 1 to 20 of 223

<< First< Prev

Page of 12

Next >Last >>

Select item 14909317451.

rs1490931745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:104328816 (GRCh38)
7:103969264 (GRCh37)
Canonical SPDI:: NC_000007.14:104328815:G:A
Gene:: LHFPL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.104328816G>A, NC_000007.13:g.103969264G>A, NM_199000.3:c.37G>A, NM_199000.2:c.37G>A, NM_001386065.1:c.37G>A, NP_945351.1:p.Ala13Thr, NP_001372994.1:p.Ala13Thr

Select item 14901656682.

rs1490165668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:104736876 (GRCh38)
7:104377323 (GRCh37)
Canonical SPDI:: NC_000007.14:104736875:G:A
Gene:: LHFPL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.104736876G>A, NC_000007.13:g.104377323G>A, NM_199000.3:c.647G>A, NM_199000.2:c.647G>A, NM_001386065.1:c.647G>A, NP_945351.1:p.Ser216Asn, NP_001372994.1:p.Ser216Asn

Select item 14869646913.

rs1486964691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:104329138 (GRCh38)
7:103969586 (GRCh37)
Canonical SPDI:: NC_000007.14:104329137:T:C
Gene:: LHFPL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.104329138T>C, NC_000007.13:g.103969586T>C, NM_199000.3:c.359T>C, NM_199000.2:c.359T>C, NM_001386065.1:c.359T>C, NP_945351.1:p.Ile120Thr, NP_001372994.1:p.Ile120Thr

Select item 14597498864.

rs1459749886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:104736880 (GRCh38)
7:104377327 (GRCh37)
Canonical SPDI:: NC_000007.14:104736879:G:A
Gene:: LHFPL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.104736880G>A, NC_000007.13:g.104377327G>A, NM_199000.3:c.651G>A, NM_199000.2:c.651G>A, NM_001386065.1:c.651G>A

Select item 14570792255.

rs1457079225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:104328866 (GRCh38)
7:103969314 (GRCh37)
Canonical SPDI:: NC_000007.14:104328865:T:A
Gene:: LHFPL3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.104328866T>A, NC_000007.13:g.103969314T>A, NM_199000.3:c.87T>A, NM_199000.2:c.87T>A, NM_001386065.1:c.87T>A, NP_945351.1:p.Tyr29Ter, NP_001372994.1:p.Tyr29Ter

Select item 14521682506.

rs1452168250 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:104328886 (GRCh38)
7:103969334 (GRCh37)
Canonical SPDI:: NC_000007.14:104328885:T:C
Gene:: LHFPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.104328886T>C, NC_000007.13:g.103969334T>C, NM_199000.3:c.107T>C, NM_199000.2:c.107T>C, NM_001386065.1:c.107T>C, NP_945351.1:p.Ile36Thr, NP_001372994.1:p.Ile36Thr

Select item 14393104927.

rs1439310492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:104736794 (GRCh38)
7:104377241 (GRCh37)
Canonical SPDI:: NC_000007.14:104736793:G:T
Gene:: LHFPL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.104736794G>T, NC_000007.13:g.104377241G>T, NM_199000.3:c.565G>T, NM_199000.2:c.565G>T, NM_001386065.1:c.565G>T, NP_945351.1:p.Ala189Ser, NP_001372994.1:p.Ala189Ser

Select item 14386870128.

rs1438687012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:104329010 (GRCh38)
7:103969458 (GRCh37)
Canonical SPDI:: NC_000007.14:104329009:C:T
Gene:: LHFPL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.104329010C>T, NC_000007.13:g.103969458C>T, NM_199000.3:c.231C>T, NM_199000.2:c.231C>T, NM_001386065.1:c.231C>T

Select item 14322834269.

rs1432283426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:104328991 (GRCh38)
7:103969439 (GRCh37)
Canonical SPDI:: NC_000007.14:104328990:G:A
Gene:: LHFPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000056/2 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.104328991G>A, NC_000007.13:g.103969439G>A, NM_199000.3:c.212G>A, NM_199000.2:c.212G>A, NM_001386065.1:c.212G>A, NP_945351.1:p.Gly71Asp, NP_001372994.1:p.Gly71Asp

Select item 142461404110.

rs1424614041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:104328911 (GRCh38)
7:103969359 (GRCh37)
Canonical SPDI:: NC_000007.14:104328910:C:T
Gene:: LHFPL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.104328911C>T, NC_000007.13:g.103969359C>T, NM_199000.3:c.132C>T, NM_199000.2:c.132C>T, NM_001386065.1:c.132C>T

Select item 142187929711.

rs1421879297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:104329038 (GRCh38)
7:103969486 (GRCh37)
Canonical SPDI:: NC_000007.14:104329037:G:C
Gene:: LHFPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.104329038G>C, NC_000007.13:g.103969486G>C, NM_199000.3:c.259G>C, NM_199000.2:c.259G>C, NM_001386065.1:c.259G>C, NP_945351.1:p.Glu87Gln, NP_001372994.1:p.Glu87Gln

Select item 142107444112.

rs1421074441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:104329182 (GRCh38)
7:103969630 (GRCh37)
Canonical SPDI:: NC_000007.14:104329181:G:A
Gene:: LHFPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.104329182G>A, NC_000007.13:g.103969630G>A, NM_199000.3:c.403G>A, NM_199000.2:c.403G>A, NM_001386065.1:c.403G>A, NP_945351.1:p.Ala135Thr, NP_001372994.1:p.Ala135Thr

Select item 141932307213.

rs1419323072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:104328796 (GRCh38)
7:103969244 (GRCh37)
Canonical SPDI:: NC_000007.14:104328795:C:T
Gene:: LHFPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.104328796C>T, NC_000007.13:g.103969244C>T, NM_199000.3:c.17C>T, NM_199000.2:c.17C>T, NM_001386065.1:c.17C>T, NP_945351.1:p.Ala6Val, NP_001372994.1:p.Ala6Val

Select item 141857483214.

rs1418574832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:104329187 (GRCh38)
7:103969635 (GRCh37)
Canonical SPDI:: NC_000007.14:104329186:T:C
Gene:: LHFPL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.104329187T>C, NC_000007.13:g.103969635T>C, NM_199000.3:c.408T>C, NM_199000.2:c.408T>C, NM_001386065.1:c.408T>C

Select item 140765450515.

rs1407654505 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:104906204 (GRCh38)
7:104546651 (GRCh37)
Canonical SPDI:: NC_000007.14:104906203:T:C
Gene:: LHFPL3 (Varview), LHFPL3-AS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.104906204T>C, NC_000007.13:g.104546651T>C, NM_199000.3:c.700T>C, NM_199000.2:c.700T>C, NM_001386065.1:c.*49T>C, NP_945351.1:p.Ser234Pro

Select item 140527870716.

rs1405278707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:104329198 (GRCh38)
7:103969646 (GRCh37)
Canonical SPDI:: NC_000007.14:104329197:T:C
Gene:: LHFPL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.104329198T>C, NC_000007.13:g.103969646T>C, NM_199000.3:c.419T>C, NM_199000.2:c.419T>C, NM_001386065.1:c.419T>C, NP_945351.1:p.Ile140Thr, NP_001372994.1:p.Ile140Thr

Select item 140033340917.

rs1400333409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:104736885 (GRCh38)
7:104377332 (GRCh37)
Canonical SPDI:: NC_000007.14:104736884:C:G
Gene:: LHFPL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.104736885C>G, NC_000007.13:g.104377332C>G, NM_199000.3:c.656C>G, NM_199000.2:c.656C>G, NM_001386065.1:c.656C>G, NP_945351.1:p.Ala219Gly, NP_001372994.1:p.Ala219Gly

Select item 139949943018.

rs1399499430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:104906212 (GRCh38)
7:104546659 (GRCh37)
Canonical SPDI:: NC_000007.14:104906211:A:G
Gene:: LHFPL3 (Varview), LHFPL3-AS2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.104906212A>G, NC_000007.13:g.104546659A>G, NM_199000.3:c.708A>G, NM_199000.2:c.708A>G, NM_001386065.1:c.*57A>G

Select item 139873321019.

rs1398733210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:104329196 (GRCh38)
7:103969644 (GRCh37)
Canonical SPDI:: NC_000007.14:104329195:G:A
Gene:: LHFPL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.104329196G>A, NC_000007.13:g.103969644G>A, NM_199000.3:c.417G>A, NM_199000.2:c.417G>A, NM_001386065.1:c.417G>A

Select item 139618155520.

rs1396181555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:104328968 (GRCh38)
7:103969416 (GRCh37)
Canonical SPDI:: NC_000007.14:104328967:C:A,NC_000007.14:104328967:C:T
Gene:: LHFPL3 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.104328968C>A, NC_000007.14:g.104328968C>T, NC_000007.13:g.103969416C>A, NC_000007.13:g.103969416C>T, NM_199000.3:c.189C>A, NM_199000.3:c.189C>T, NM_199000.2:c.189C>A, NM_199000.2:c.189C>T, NM_001386065.1:c.189C>A, NM_001386065.1:c.189C>T, NP_945351.1:p.Asp63Glu, NP_001372994.1:p.Asp63Glu

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 223

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity