SNP Links for Protein (Select 556695430) - SNP

Links from Protein

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Select item 14853944651.

rs1485394465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:37219004 (GRCh38)
6:37186780 (GRCh37)
Canonical SPDI:: NC_000006.12:37219003:C:A
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37219004C>A, NC_000006.11:g.37186780C>A, NM_145316.4:c.27G>T, NM_145316.3:c.27G>T, NM_001162900.3:c.27G>T, NM_001162900.2:c.27G>T, NM_001162900.1:c.27G>T, NM_001286401.2:c.27G>T, NM_001286401.1:c.27G>T, NM_001395240.1:c.27G>T, NR_172517.1:n.615G>T, NM_001395238.1:c.27G>T, NM_001395243.1:c.27G>T, NM_001395244.1:c.27G>T, NM_001395241.1:c.27G>T, NM_001395242.1:c.27G>T, NM_001371555.1:c.27G>T, NP_660359.2:p.Met9Ile, NP_001156372.1:p.Met9Ile, NP_001273330.1:p.Met9Ile, NP_001382169.1:p.Met9Ile, NP_001382167.1:p.Met9Ile, NP_001382172.1:p.Met9Ile, NP_001382173.1:p.Met9Ile, NP_001382170.1:p.Met9Ile, NP_001382171.1:p.Met9Ile, NP_001358484.1:p.Met9Ile

Select item 14813910272.

rs1481391027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:37218593 (GRCh38)
6:37186369 (GRCh37)
Canonical SPDI:: NC_000006.12:37218592:G:A
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37218593G>A, NC_000006.11:g.37186369G>A, NM_145316.4:c.438C>T, NM_145316.3:c.438C>T, NM_001162900.3:c.438C>T, NM_001162900.2:c.438C>T, NM_001162900.1:c.438C>T, NM_001286401.2:c.438C>T, NM_001286401.1:c.438C>T, NM_001395240.1:c.438C>T, NR_172517.1:n.1026C>T, NM_001395238.1:c.438C>T, NM_001395243.1:c.438C>T, NM_001395244.1:c.438C>T, NM_001371555.1:c.438C>T

Select item 14811174133.

rs1481117413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:37218898 (GRCh38)
6:37186674 (GRCh37)
Canonical SPDI:: NC_000006.12:37218897:T:C
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.37218898T>C, NC_000006.11:g.37186674T>C, NM_145316.4:c.133A>G, NM_145316.3:c.133A>G, NM_001162900.3:c.133A>G, NM_001162900.2:c.133A>G, NM_001162900.1:c.133A>G, NM_001286401.2:c.133A>G, NM_001286401.1:c.133A>G, NM_001395240.1:c.133A>G, NR_172517.1:n.721A>G, NM_001395238.1:c.133A>G, NM_001395243.1:c.133A>G, NM_001395244.1:c.133A>G, NM_001395241.1:c.133A>G, NM_001395242.1:c.133A>G, NM_001371555.1:c.133A>G, NP_660359.2:p.Ile45Val, NP_001156372.1:p.Ile45Val, NP_001273330.1:p.Ile45Val, NP_001382169.1:p.Ile45Val, NP_001382167.1:p.Ile45Val, NP_001382172.1:p.Ile45Val, NP_001382173.1:p.Ile45Val, NP_001382170.1:p.Ile45Val, NP_001382171.1:p.Ile45Val, NP_001358484.1:p.Ile45Val

Select item 14702686874.

rs1470268687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:37212977 (GRCh38)
6:37180753 (GRCh37)
Canonical SPDI:: NC_000006.12:37212976:T:C,NC_000006.12:37212976:T:G
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.37212977T>C, NC_000006.12:g.37212977T>G, NC_000006.11:g.37180753T>C, NC_000006.11:g.37180753T>G, NM_145316.4:c.*20A>G, NM_145316.4:c.*20A>C, NM_145316.3:c.*20A>G, NM_145316.3:c.*20A>C, NM_001286401.2:c.625A>G, NM_001286401.2:c.625A>C, NM_001286401.1:c.625A>G, NM_001286401.1:c.625A>C, NR_104442.2:n.682A>G, NR_104442.2:n.682A>C, NR_104443.2:n.597A>G, NR_104443.2:n.597A>C, NR_172517.1:n.1322A>G, NR_172517.1:n.1322A>C, NM_001395238.1:c.651A>G, NM_001395238.1:c.651A>C, NM_001395243.1:c.576A>G, NM_001395243.1:c.576A>C, NM_001395241.1:c.*5A>G, NM_001395241.1:c.*5A>C, NM_001395242.1:c.*5A>G, NM_001395242.1:c.*5A>C, NR_104442.1:n.693A>G, NR_104442.1:n.693A>C, NM_001395377.1:c.-8A>G, NM_001395377.1:c.-8A>C, NM_001371555.1:c.625A>G, NM_001371555.1:c.625A>C, NR_104443.1:n.608A>G, NR_104443.1:n.608A>C, NM_001395938.1:c.-8A>G, NM_001395938.1:c.-8A>C, NM_001395378.1:c.-8A>G, NM_001395378.1:c.-8A>C, NP_001273330.1:p.Ser209Gly, NP_001273330.1:p.Ser209Arg, NP_001382167.1:p.Gln217His, NP_001382172.1:p.Gln192His, NP_001358484.1:p.Ser209Gly, NP_001358484.1:p.Ser209Arg

Select item 14598590555.

rs1459859055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:37218821 (GRCh38)
6:37186597 (GRCh37)
Canonical SPDI:: NC_000006.12:37218820:G:A
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37218821G>A, NC_000006.11:g.37186597G>A, NM_145316.4:c.210C>T, NM_145316.3:c.210C>T, NM_001162900.3:c.210C>T, NM_001162900.2:c.210C>T, NM_001162900.1:c.210C>T, NM_001286401.2:c.210C>T, NM_001286401.1:c.210C>T, NM_001395240.1:c.210C>T, NR_172517.1:n.798C>T, NM_001395238.1:c.210C>T, NM_001395243.1:c.210C>T, NM_001395244.1:c.210C>T, NM_001395241.1:c.210C>T, NM_001395242.1:c.210C>T, NM_001371555.1:c.210C>T

Select item 14562668146.

rs1456266814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:37218534 (GRCh38)
6:37186310 (GRCh37)
Canonical SPDI:: NC_000006.12:37218533:T:C
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_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_000006.12:g.37218534T>C, NC_000006.11:g.37186310T>C, NM_145316.4:c.497A>G, NM_145316.3:c.497A>G, NM_001162900.3:c.497A>G, NM_001162900.2:c.497A>G, NM_001162900.1:c.497A>G, NM_001286401.2:c.497A>G, NM_001286401.1:c.497A>G, NM_001395240.1:c.497A>G, NR_172517.1:n.1085A>G, NM_001395238.1:c.497A>G, NM_001395243.1:c.497A>G, NM_001395244.1:c.497A>G, NM_001371555.1:c.497A>G, NP_660359.2:p.Lys166Arg, NP_001156372.1:p.Lys166Arg, NP_001273330.1:p.Lys166Arg, NP_001382169.1:p.Lys166Arg, NP_001382167.1:p.Lys166Arg, NP_001382172.1:p.Lys166Arg, NP_001382173.1:p.Lys166Arg, NP_001358484.1:p.Lys166Arg

Select item 14557130367.

rs1455713036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:37218798 (GRCh38)
6:37186574 (GRCh37)
Canonical SPDI:: NC_000006.12:37218797:A:C
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37218798A>C, NC_000006.11:g.37186574A>C, NM_145316.4:c.233T>G, NM_145316.3:c.233T>G, NM_001162900.3:c.233T>G, NM_001162900.2:c.233T>G, NM_001162900.1:c.233T>G, NM_001286401.2:c.233T>G, NM_001286401.1:c.233T>G, NM_001395240.1:c.233T>G, NR_172517.1:n.821T>G, NM_001395238.1:c.233T>G, NM_001395243.1:c.233T>G, NM_001395244.1:c.233T>G, NM_001395241.1:c.233T>G, NM_001395242.1:c.233T>G, NM_001371555.1:c.233T>G, NP_660359.2:p.Ile78Ser, NP_001156372.1:p.Ile78Ser, NP_001273330.1:p.Ile78Ser, NP_001382169.1:p.Ile78Ser, NP_001382167.1:p.Ile78Ser, NP_001382172.1:p.Ile78Ser, NP_001382173.1:p.Ile78Ser, NP_001382170.1:p.Ile78Ser, NP_001382171.1:p.Ile78Ser, NP_001358484.1:p.Ile78Ser

Select item 14529040888.

rs1452904088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:37218741 (GRCh38)
6:37186517 (GRCh37)
Canonical SPDI:: NC_000006.12:37218740:T:G
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37218741T>G, NC_000006.11:g.37186517T>G, NM_145316.4:c.290A>C, NM_145316.3:c.290A>C, NM_001162900.3:c.290A>C, NM_001162900.2:c.290A>C, NM_001162900.1:c.290A>C, NM_001286401.2:c.290A>C, NM_001286401.1:c.290A>C, NM_001395240.1:c.290A>C, NR_172517.1:n.878A>C, NM_001395238.1:c.290A>C, NM_001395243.1:c.290A>C, NM_001395244.1:c.290A>C, NM_001395241.1:c.290A>C, NM_001395242.1:c.290A>C, NM_001371555.1:c.290A>C, NP_660359.2:p.Tyr97Ser, NP_001156372.1:p.Tyr97Ser, NP_001273330.1:p.Tyr97Ser, NP_001382169.1:p.Tyr97Ser, NP_001382167.1:p.Tyr97Ser, NP_001382172.1:p.Tyr97Ser, NP_001382173.1:p.Tyr97Ser, NP_001382170.1:p.Tyr97Ser, NP_001382171.1:p.Tyr97Ser, NP_001358484.1:p.Tyr97Ser

Select item 14462620759.

rs1446262075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:37218506 (GRCh38)
6:37186282 (GRCh37)
Canonical SPDI:: NC_000006.12:37218505:G:A
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37218506G>A, NC_000006.11:g.37186282G>A, NM_145316.4:c.525C>T, NM_145316.3:c.525C>T, NM_001162900.3:c.525C>T, NM_001162900.2:c.525C>T, NM_001162900.1:c.525C>T, NM_001286401.2:c.525C>T, NM_001286401.1:c.525C>T, NM_001395240.1:c.525C>T, NR_172517.1:n.1113C>T, NM_001395238.1:c.525C>T, NM_001395243.1:c.525C>T, NM_001395244.1:c.525C>T, NM_001371555.1:c.525C>T

Select item 144253717010.

rs1442537170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:37218956 (GRCh38)
6:37186732 (GRCh37)
Canonical SPDI:: NC_000006.12:37218955:G:A
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37218956G>A, NC_000006.11:g.37186732G>A, NM_145316.4:c.75C>T, NM_145316.3:c.75C>T, NM_001162900.3:c.75C>T, NM_001162900.2:c.75C>T, NM_001162900.1:c.75C>T, NM_001286401.2:c.75C>T, NM_001286401.1:c.75C>T, NM_001395240.1:c.75C>T, NR_172517.1:n.663C>T, NM_001395238.1:c.75C>T, NM_001395243.1:c.75C>T, NM_001395244.1:c.75C>T, NM_001395241.1:c.75C>T, NM_001395242.1:c.75C>T, NM_001371555.1:c.75C>T

Select item 144208972511.

rs1442089725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:37218455 (GRCh38)
6:37186231 (GRCh37)
Canonical SPDI:: NC_000006.12:37218454:G:T
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.37218455G>T, NC_000006.11:g.37186231G>T, NM_145316.4:c.576C>A, NM_145316.3:c.576C>A, NM_001162900.3:c.576C>A, NM_001162900.2:c.576C>A, NM_001162900.1:c.576C>A, NM_001286401.2:c.576C>A, NM_001286401.1:c.576C>A, NM_001395240.1:c.576C>A, NR_172517.1:n.1164C>A, NM_001395238.1:c.576C>A, NM_001395244.1:c.576C>A, NM_001371555.1:c.576C>A, NP_660359.2:p.His192Gln, NP_001156372.1:p.His192Gln, NP_001273330.1:p.His192Gln, NP_001382169.1:p.His192Gln, NP_001382167.1:p.His192Gln, NP_001382173.1:p.His192Gln, NP_001358484.1:p.His192Gln

Select item 143846495712.

rs1438464957 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:37218996 (GRCh38)
6:37186772 (GRCh37)
Canonical SPDI:: NC_000006.12:37218995:T:G
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.37218996T>G, NC_000006.11:g.37186772T>G, NM_145316.4:c.35A>C, NM_145316.3:c.35A>C, NM_001162900.3:c.35A>C, NM_001162900.2:c.35A>C, NM_001162900.1:c.35A>C, NM_001286401.2:c.35A>C, NM_001286401.1:c.35A>C, NM_001395240.1:c.35A>C, NR_172517.1:n.623A>C, NM_001395238.1:c.35A>C, NM_001395243.1:c.35A>C, NM_001395244.1:c.35A>C, NM_001395241.1:c.35A>C, NM_001395242.1:c.35A>C, NM_001371555.1:c.35A>C, NP_660359.2:p.Lys12Thr, NP_001156372.1:p.Lys12Thr, NP_001273330.1:p.Lys12Thr, NP_001382169.1:p.Lys12Thr, NP_001382167.1:p.Lys12Thr, NP_001382172.1:p.Lys12Thr, NP_001382173.1:p.Lys12Thr, NP_001382170.1:p.Lys12Thr, NP_001382171.1:p.Lys12Thr, NP_001358484.1:p.Lys12Thr

Select item 142850345613.

rs1428503456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:37218625 (GRCh38)
6:37186401 (GRCh37)
Canonical SPDI:: NC_000006.12:37218624:T:C
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.37218625T>C, NC_000006.11:g.37186401T>C, NM_145316.4:c.406A>G, NM_145316.3:c.406A>G, NM_001162900.3:c.406A>G, NM_001162900.2:c.406A>G, NM_001162900.1:c.406A>G, NM_001286401.2:c.406A>G, NM_001286401.1:c.406A>G, NM_001395240.1:c.406A>G, NR_172517.1:n.994A>G, NM_001395238.1:c.406A>G, NM_001395243.1:c.406A>G, NM_001395244.1:c.406A>G, NM_001371555.1:c.406A>G, NP_660359.2:p.Thr136Ala, NP_001156372.1:p.Thr136Ala, NP_001273330.1:p.Thr136Ala, NP_001382169.1:p.Thr136Ala, NP_001382167.1:p.Thr136Ala, NP_001382172.1:p.Thr136Ala, NP_001382173.1:p.Thr136Ala, NP_001358484.1:p.Thr136Ala

Select item 142085309314.

rs1420853093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:37212981 (GRCh38)
6:37180757 (GRCh37)
Canonical SPDI:: NC_000006.12:37212980:T:C
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.37212981T>C, NC_000006.11:g.37180757T>C, NM_145316.4:c.*16A>G, NM_145316.3:c.*16A>G, NM_001286401.2:c.621A>G, NM_001286401.1:c.621A>G, NR_104442.2:n.678A>G, NR_104443.2:n.593A>G, NR_172517.1:n.1318A>G, NM_001395238.1:c.647A>G, NM_001395243.1:c.572A>G, NM_001395241.1:c.*1A>G, NM_001395242.1:c.*1A>G, NR_104442.1:n.689A>G, NM_001395377.1:c.-12A>G, NM_001371555.1:c.621A>G, NR_104443.1:n.604A>G, NM_001395938.1:c.-12A>G, NM_001395378.1:c.-12A>G, NP_001382167.1:p.Lys216Arg, NP_001382172.1:p.Lys191Arg

Select item 141823614415.

rs1418236144 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:37218936 (GRCh38)
6:37186712 (GRCh37)
Canonical SPDI:: NC_000006.12:37218935:A:C
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37218936A>C, NC_000006.11:g.37186712A>C, NM_145316.4:c.95T>G, NM_145316.3:c.95T>G, NM_001162900.3:c.95T>G, NM_001162900.2:c.95T>G, NM_001162900.1:c.95T>G, NM_001286401.2:c.95T>G, NM_001286401.1:c.95T>G, NM_001395240.1:c.95T>G, NR_172517.1:n.683T>G, NM_001395238.1:c.95T>G, NM_001395243.1:c.95T>G, NM_001395244.1:c.95T>G, NM_001395241.1:c.95T>G, NM_001395242.1:c.95T>G, NM_001371555.1:c.95T>G, NP_660359.2:p.Phe32Cys, NP_001156372.1:p.Phe32Cys, NP_001273330.1:p.Phe32Cys, NP_001382169.1:p.Phe32Cys, NP_001382167.1:p.Phe32Cys, NP_001382172.1:p.Phe32Cys, NP_001382173.1:p.Phe32Cys, NP_001382170.1:p.Phe32Cys, NP_001382171.1:p.Phe32Cys, NP_001358484.1:p.Phe32Cys

Select item 141180547116.

rs1411805471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:37218661 (GRCh38)
6:37186437 (GRCh37)
Canonical SPDI:: NC_000006.12:37218660:C:T
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: missense_variant,splice_donor_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.37218661C>T, NC_000006.11:g.37186437C>T, NM_145316.4:c.370G>A, NM_145316.3:c.370G>A, NM_001162900.3:c.370G>A, NM_001162900.2:c.370G>A, NM_001162900.1:c.370G>A, NM_001286401.2:c.370G>A, NM_001286401.1:c.370G>A, NM_001395240.1:c.370G>A, NR_172517.1:n.958G>A, NM_001395238.1:c.370G>A, NM_001395243.1:c.370G>A, NM_001395244.1:c.370G>A, NM_001371555.1:c.370G>A, NP_660359.2:p.Val124Ile, NP_001156372.1:p.Val124Ile, NP_001273330.1:p.Val124Ile, NP_001382169.1:p.Val124Ile, NP_001382167.1:p.Val124Ile, NP_001382172.1:p.Val124Ile, NP_001382173.1:p.Val124Ile, NP_001358484.1:p.Val124Ile

Select item 140712143117.

rs1407121431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:37218757 (GRCh38)
6:37186533 (GRCh37)
Canonical SPDI:: NC_000006.12:37218756:T:C
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.37218757T>C, NC_000006.11:g.37186533T>C, NM_145316.4:c.274A>G, NM_145316.3:c.274A>G, NM_001162900.3:c.274A>G, NM_001162900.2:c.274A>G, NM_001162900.1:c.274A>G, NM_001286401.2:c.274A>G, NM_001286401.1:c.274A>G, NM_001395240.1:c.274A>G, NR_172517.1:n.862A>G, NM_001395238.1:c.274A>G, NM_001395243.1:c.274A>G, NM_001395244.1:c.274A>G, NM_001395241.1:c.274A>G, NM_001395242.1:c.274A>G, NM_001371555.1:c.274A>G, NP_660359.2:p.Arg92Gly, NP_001156372.1:p.Arg92Gly, NP_001273330.1:p.Arg92Gly, NP_001382169.1:p.Arg92Gly, NP_001382167.1:p.Arg92Gly, NP_001382172.1:p.Arg92Gly, NP_001382173.1:p.Arg92Gly, NP_001382170.1:p.Arg92Gly, NP_001382171.1:p.Arg92Gly, NP_001358484.1:p.Arg92Gly

Select item 140688579018.

rs1406885790 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:37218868 (GRCh38)
6:37186644 (GRCh37)
Canonical SPDI:: NC_000006.12:37218867:T:A
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: intron_variant,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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.37218868T>A, NC_000006.11:g.37186644T>A, NM_145316.4:c.163A>T, NM_145316.3:c.163A>T, NM_001162900.3:c.163A>T, NM_001162900.2:c.163A>T, NM_001162900.1:c.163A>T, NM_001286401.2:c.163A>T, NM_001286401.1:c.163A>T, NM_001395240.1:c.163A>T, NR_172517.1:n.751A>T, NM_001395238.1:c.163A>T, NM_001395243.1:c.163A>T, NM_001395244.1:c.163A>T, NM_001395241.1:c.163A>T, NM_001395242.1:c.163A>T, NM_001371555.1:c.163A>T, NP_660359.2:p.Ile55Phe, NP_001156372.1:p.Ile55Phe, NP_001273330.1:p.Ile55Phe, NP_001382169.1:p.Ile55Phe, NP_001382167.1:p.Ile55Phe, NP_001382172.1:p.Ile55Phe, NP_001382173.1:p.Ile55Phe, NP_001382170.1:p.Ile55Phe, NP_001382171.1:p.Ile55Phe, NP_001358484.1:p.Ile55Phe

Select item 140290158419.

rs1402901584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:37218431 (GRCh38)
6:37186207 (GRCh37)
Canonical SPDI:: NC_000006.12:37218430:C:A,NC_000006.12:37218430:C:T
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.37218431C>A, NC_000006.12:g.37218431C>T, NC_000006.11:g.37186207C>A, NC_000006.11:g.37186207C>T, NM_145316.4:c.600G>T, NM_145316.4:c.600G>A, NM_145316.3:c.600G>T, NM_145316.3:c.600G>A, NM_001162900.3:c.600G>T, NM_001162900.3:c.600G>A, NM_001162900.2:c.600G>T, NM_001162900.2:c.600G>A, NM_001162900.1:c.600G>T, NM_001162900.1:c.600G>A, NM_001286401.2:c.600G>T, NM_001286401.2:c.600G>A, NM_001286401.1:c.600G>T, NM_001286401.1:c.600G>A, NM_001395240.1:c.600G>T, NM_001395240.1:c.600G>A, NR_172517.1:n.1188G>T, NR_172517.1:n.1188G>A, NM_001395238.1:c.600G>T, NM_001395238.1:c.600G>A, NM_001395244.1:c.600G>T, NM_001395244.1:c.600G>A, NM_001371555.1:c.600G>T, NM_001371555.1:c.600G>A, NP_660359.2:p.Arg200Ser, NP_001156372.1:p.Arg200Ser, NP_001273330.1:p.Arg200Ser, NP_001382169.1:p.Arg200Ser, NP_001382167.1:p.Arg200Ser, NP_001382173.1:p.Arg200Ser, NP_001358484.1:p.Arg200Ser

Select item 140059472120.

rs1400594721 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:37219005 (GRCh38)
6:37186781 (GRCh37)
Canonical SPDI:: NC_000006.12:37219004:A:G,NC_000006.12:37219004:A:T
Gene:: TMEM217 (Varview), TMEM217B (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.37219005A>G, NC_000006.12:g.37219005A>T, NC_000006.11:g.37186781A>G, NC_000006.11:g.37186781A>T, NM_145316.4:c.26T>C, NM_145316.4:c.26T>A, NM_145316.3:c.26T>C, NM_145316.3:c.26T>A, NM_001162900.3:c.26T>C, NM_001162900.3:c.26T>A, NM_001162900.2:c.26T>C, NM_001162900.2:c.26T>A, NM_001162900.1:c.26T>C, NM_001162900.1:c.26T>A, NM_001286401.2:c.26T>C, NM_001286401.2:c.26T>A, NM_001286401.1:c.26T>C, NM_001286401.1:c.26T>A, NM_001395240.1:c.26T>C, NM_001395240.1:c.26T>A, NR_172517.1:n.614T>C, NR_172517.1:n.614T>A, NM_001395238.1:c.26T>C, NM_001395238.1:c.26T>A, NM_001395243.1:c.26T>C, NM_001395243.1:c.26T>A, NM_001395244.1:c.26T>C, NM_001395244.1:c.26T>A, NM_001395241.1:c.26T>C, NM_001395241.1:c.26T>A, NM_001395242.1:c.26T>C, NM_001395242.1:c.26T>A, NM_001371555.1:c.26T>C, NM_001371555.1:c.26T>A, NP_660359.2:p.Met9Thr, NP_660359.2:p.Met9Lys, NP_001156372.1:p.Met9Thr, NP_001156372.1:p.Met9Lys, NP_001273330.1:p.Met9Thr, NP_001273330.1:p.Met9Lys, NP_001382169.1:p.Met9Thr, NP_001382169.1:p.Met9Lys, NP_001382167.1:p.Met9Thr, NP_001382167.1:p.Met9Lys, NP_001382172.1:p.Met9Thr, NP_001382172.1:p.Met9Lys, NP_001382173.1:p.Met9Thr, NP_001382173.1:p.Met9Lys, NP_001382170.1:p.Met9Thr, NP_001382170.1:p.Met9Lys, NP_001382171.1:p.Met9Thr, NP_001382171.1:p.Met9Lys, NP_001358484.1:p.Met9Thr, NP_001358484.1:p.Met9Lys

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