SNP Links for Protein (Select 1034599490) - SNP

Select item 14898008181.

rs1489800818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7355598 (GRCh38)
17:7258917 (GRCh37)
Canonical SPDI:: NC_000017.11:7355597:T:C
Gene:: TMEM95 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7355598T>C, NC_000017.10:g.7258917T>C, NW_021160020.1:g.113963T>C, NM_198154.3:c.182T>C, NM_198154.2:c.182T>C, NM_198154.1:c.182T>C, NM_001320436.2:c.182T>C, NM_001320436.1:c.182T>C, NM_001320435.2:c.182T>C, NM_001320435.1:c.182T>C, XM_017024571.2:c.182T>C, XM_017024571.1:c.182T>C, XM_017024565.2:c.182T>C, XM_017024565.1:c.182T>C, XM_017024566.2:c.182T>C, XM_017024566.1:c.182T>C, XM_017024567.2:c.182T>C, XM_017024567.1:c.182T>C, XM_017024569.2:c.182T>C, XM_017024569.1:c.182T>C, XM_017024568.2:c.182T>C, XM_017024568.1:c.182T>C, NP_937797.1:p.Met61Thr, NP_001307365.1:p.Met61Thr, NP_001307364.1:p.Met61Thr, XP_016880060.1:p.Met61Thr, XP_016880054.1:p.Met61Thr, XP_016880055.1:p.Met61Thr, XP_016880056.1:p.Met61Thr, XP_016880058.1:p.Met61Thr, XP_016880057.1:p.Met61Thr

Select item 14849224132.

rs1484922413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7355226 (GRCh38)
17:7258545 (GRCh37)
Canonical SPDI:: NC_000017.11:7355225:G:A
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000016/4 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.7355226G>A, NC_000017.10:g.7258545G>A, NW_021160020.1:g.113591G>A, NM_198154.3:c.22G>A, NM_198154.2:c.22G>A, NM_198154.1:c.22G>A, NM_001320436.2:c.22G>A, NM_001320436.1:c.22G>A, NM_001320435.2:c.22G>A, NM_001320435.1:c.22G>A, XM_017024571.2:c.22G>A, XM_017024571.1:c.22G>A, XM_017024565.2:c.22G>A, XM_017024565.1:c.22G>A, XM_017024566.2:c.22G>A, XM_017024566.1:c.22G>A, XM_017024567.2:c.22G>A, XM_017024567.1:c.22G>A, XM_017024569.2:c.22G>A, XM_017024569.1:c.22G>A, XM_017024568.2:c.22G>A, XM_017024568.1:c.22G>A, NP_937797.1:p.Gly8Arg, NP_001307365.1:p.Gly8Arg, NP_001307364.1:p.Gly8Arg, XP_016880060.1:p.Gly8Arg, XP_016880054.1:p.Gly8Arg, XP_016880055.1:p.Gly8Arg, XP_016880056.1:p.Gly8Arg, XP_016880058.1:p.Gly8Arg, XP_016880057.1:p.Gly8Arg

Select item 14834172063.

rs1483417206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7356631 (GRCh38)
17:7259950 (GRCh37)
Canonical SPDI:: NC_000017.11:7356630:G:T
Gene:: TMEM95 (Varview)
Functional Consequence:: coding_sequence_variant,stop_lost,stop_gained,synonymous_variant,terminator_codon_variant
HGVS:: NC_000017.11:g.7356631G>T, NC_000017.10:g.7259950G>T, NW_021160020.1:g.114996G>T, NM_198154.3:c.554G>T, NM_198154.2:c.554G>T, NM_198154.1:c.554G>T, NM_001320436.2:c.530G>T, NM_001320436.1:c.530G>T, NM_001320435.2:c.522G>T, NM_001320435.1:c.522G>T, XM_017024571.2:c.442G>T, XM_017024571.1:c.442G>T, XM_017024565.2:c.442G>T, XM_017024565.1:c.442G>T, XM_017024566.2:c.361G>T, XM_017024566.1:c.361G>T, XM_017024567.2:c.340G>T, XM_017024567.1:c.340G>T, XM_017024569.2:c.530G>T, XM_017024569.1:c.530G>T, XM_017024568.2:c.530G>T, XM_017024568.1:c.530G>T, NP_937797.1:p.Ter185Leu, NP_001307365.1:p.Ter177Leu, XP_016880060.1:p.Glu148Ter, XP_016880054.1:p.Glu148Ter, XP_016880055.1:p.Glu121Ter, XP_016880056.1:p.Glu114Ter, XP_016880058.1:p.Ter177Leu, XP_016880057.1:p.Ter177Leu

Select item 14729536374.

rs1472953637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7355870 (GRCh38)
17:7259189 (GRCh37)
Canonical SPDI:: NC_000017.11:7355869:T:C
Gene:: TMEM95 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7355870T>C, NC_000017.10:g.7259189T>C, NW_021160020.1:g.114235T>C, NM_198154.3:c.259T>C, NM_198154.2:c.259T>C, NM_198154.1:c.259T>C, NM_001320436.2:c.259T>C, NM_001320436.1:c.259T>C, NM_001320435.2:c.259T>C, NM_001320435.1:c.259T>C, XM_017024571.2:c.259T>C, XM_017024571.1:c.259T>C, XM_017024565.2:c.259T>C, XM_017024565.1:c.259T>C, XM_017024569.2:c.259T>C, XM_017024569.1:c.259T>C, XM_017024568.2:c.259T>C, XM_017024568.1:c.259T>C, NP_937797.1:p.Tyr87His, NP_001307365.1:p.Tyr87His, NP_001307364.1:p.Tyr87His, XP_016880060.1:p.Tyr87His, XP_016880054.1:p.Tyr87His, XP_016880058.1:p.Tyr87His, XP_016880057.1:p.Tyr87His

Select item 14719460375.

rs1471946037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:7355636 (GRCh38)
17:7258955 (GRCh37)
Canonical SPDI:: NC_000017.11:7355635:G:A,NC_000017.11:7355635:G:T
Gene:: TMEM95 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7355636G>A, NC_000017.11:g.7355636G>T, NC_000017.10:g.7258955G>A, NC_000017.10:g.7258955G>T, NW_021160020.1:g.114001G>A, NW_021160020.1:g.114001G>T, NM_198154.3:c.220G>A, NM_198154.3:c.220G>T, NM_198154.2:c.220G>A, NM_198154.2:c.220G>T, NM_198154.1:c.220G>A, NM_198154.1:c.220G>T, NM_001320436.2:c.220G>A, NM_001320436.2:c.220G>T, NM_001320436.1:c.220G>A, NM_001320436.1:c.220G>T, NM_001320435.2:c.220G>A, NM_001320435.2:c.220G>T, NM_001320435.1:c.220G>A, NM_001320435.1:c.220G>T, XM_017024571.2:c.220G>A, XM_017024571.2:c.220G>T, XM_017024571.1:c.220G>A, XM_017024571.1:c.220G>T, XM_017024565.2:c.220G>A, XM_017024565.2:c.220G>T, XM_017024565.1:c.220G>A, XM_017024565.1:c.220G>T, XM_017024566.2:c.220G>A, XM_017024566.2:c.220G>T, XM_017024566.1:c.220G>A, XM_017024566.1:c.220G>T, XM_017024567.2:c.220G>A, XM_017024567.2:c.220G>T, XM_017024567.1:c.220G>A, XM_017024567.1:c.220G>T, XM_017024569.2:c.220G>A, XM_017024569.2:c.220G>T, XM_017024569.1:c.220G>A, XM_017024569.1:c.220G>T, XM_017024568.2:c.220G>A, XM_017024568.2:c.220G>T, XM_017024568.1:c.220G>A, XM_017024568.1:c.220G>T, NP_937797.1:p.Val74Ile, NP_937797.1:p.Val74Phe, NP_001307365.1:p.Val74Ile, NP_001307365.1:p.Val74Phe, NP_001307364.1:p.Val74Ile, NP_001307364.1:p.Val74Phe, XP_016880060.1:p.Val74Ile, XP_016880060.1:p.Val74Phe, XP_016880054.1:p.Val74Ile, XP_016880054.1:p.Val74Phe, XP_016880055.1:p.Val74Ile, XP_016880055.1:p.Val74Phe, XP_016880056.1:p.Val74Ile, XP_016880056.1:p.Val74Phe, XP_016880058.1:p.Val74Ile, XP_016880058.1:p.Val74Phe, XP_016880057.1:p.Val74Ile, XP_016880057.1:p.Val74Phe

Select item 14690799486.

rs1469079948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7356223 (GRCh38)
17:7259542 (GRCh37)
Canonical SPDI:: NC_000017.11:7356222:C:T
Gene:: TMEM95 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.7356223C>T, NC_000017.10:g.7259542C>T, NW_021160020.1:g.114588C>T, NM_198154.3:c.380C>T, NM_198154.2:c.380C>T, NM_198154.1:c.380C>T, NM_001320436.2:c.356C>T, NM_001320436.1:c.356C>T, NM_001320435.2:c.356C>T, NM_001320435.1:c.356C>T, XM_017024571.2:c.356C>T, XM_017024571.1:c.356C>T, XM_017024565.2:c.356C>T, XM_017024565.1:c.356C>T, XM_017024566.2:c.275C>T, XM_017024566.1:c.275C>T, XM_017024567.2:c.254C>T, XM_017024567.1:c.254C>T, XM_017024569.2:c.356C>T, XM_017024569.1:c.356C>T, XM_017024568.2:c.356C>T, XM_017024568.1:c.356C>T, NP_937797.1:p.Ser127Phe, NP_001307365.1:p.Ser119Phe, NP_001307364.1:p.Ser119Phe, XP_016880060.1:p.Ser119Phe, XP_016880054.1:p.Ser119Phe, XP_016880055.1:p.Ser92Phe, XP_016880056.1:p.Ser85Phe, XP_016880058.1:p.Ser119Phe, XP_016880057.1:p.Ser119Phe

Select item 14678506477.

rs1467850647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7356207 (GRCh38)
17:7259526 (GRCh37)
Canonical SPDI:: NC_000017.11:7356206:A:G
Gene:: TMEM95 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.7356207A>G, NC_000017.10:g.7259526A>G, NW_021160020.1:g.114572A>G, NM_198154.3:c.364A>G, NM_198154.2:c.364A>G, NM_198154.1:c.364A>G, NM_001320436.2:c.340A>G, NM_001320436.1:c.340A>G, NM_001320435.2:c.340A>G, NM_001320435.1:c.340A>G, XM_017024571.2:c.340A>G, XM_017024571.1:c.340A>G, XM_017024565.2:c.340A>G, XM_017024565.1:c.340A>G, XM_017024566.2:c.259A>G, XM_017024566.1:c.259A>G, XM_017024567.2:c.238A>G, XM_017024567.1:c.238A>G, XM_017024569.2:c.340A>G, XM_017024569.1:c.340A>G, XM_017024568.2:c.340A>G, XM_017024568.1:c.340A>G, NP_937797.1:p.Thr122Ala, NP_001307365.1:p.Thr114Ala, NP_001307364.1:p.Thr114Ala, XP_016880060.1:p.Thr114Ala, XP_016880054.1:p.Thr114Ala, XP_016880055.1:p.Thr87Ala, XP_016880056.1:p.Thr80Ala, XP_016880058.1:p.Thr114Ala, XP_016880057.1:p.Thr114Ala

Select item 14624274738.

rs1462427473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7355856 (GRCh38)
17:7259175 (GRCh37)
Canonical SPDI:: NC_000017.11:7355855:C:T
Gene:: TMEM95 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7355856C>T, NC_000017.10:g.7259175C>T, NW_021160020.1:g.114221C>T, NM_198154.3:c.245C>T, NM_198154.2:c.245C>T, NM_198154.1:c.245C>T, NM_001320436.2:c.245C>T, NM_001320436.1:c.245C>T, NM_001320435.2:c.245C>T, NM_001320435.1:c.245C>T, XM_017024571.2:c.245C>T, XM_017024571.1:c.245C>T, XM_017024565.2:c.245C>T, XM_017024565.1:c.245C>T, XM_017024569.2:c.245C>T, XM_017024569.1:c.245C>T, XM_017024568.2:c.245C>T, XM_017024568.1:c.245C>T, NP_937797.1:p.Ser82Phe, NP_001307365.1:p.Ser82Phe, NP_001307364.1:p.Ser82Phe, XP_016880060.1:p.Ser82Phe, XP_016880054.1:p.Ser82Phe, XP_016880058.1:p.Ser82Phe, XP_016880057.1:p.Ser82Phe

Select item 14512839409.

rs1451283940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7357022 (GRCh38)
17:7260341 (GRCh37)
Canonical SPDI:: NC_000017.11:7357021:C:T
Gene:: TMEM95 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.7357022C>T, NC_000017.10:g.7260341C>T, NW_021160020.1:g.115387C>T, NM_198154.3:c.*390C>T, NM_198154.2:c.*390C>T, NM_198154.1:c.*390C>T, NM_001320436.2:c.*390C>T, NM_001320436.1:c.*390C>T, NM_001320435.2:c.*301C>T, NM_001320435.1:c.*301C>T, XM_017024571.2:c.666C>T, XM_017024571.1:c.666C>T, XM_017024565.2:c.608C>T, XM_017024565.1:c.608C>T, XM_017024566.2:c.585C>T, XM_017024566.1:c.585C>T, XM_017024567.2:c.564C>T, XM_017024567.1:c.564C>T, XP_016880054.1:p.Pro203Leu

Select item 144986352310.

rs1449863523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:7355324 (GRCh38)
17:7258643 (GRCh37)
Canonical SPDI:: NC_000017.11:7355323:C:A
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7355324C>A, NC_000017.10:g.7258643C>A, NW_021160020.1:g.113689C>A, NM_198154.3:c.120C>A, NM_198154.2:c.120C>A, NM_198154.1:c.120C>A, NM_001320436.2:c.120C>A, NM_001320436.1:c.120C>A, NM_001320435.2:c.120C>A, NM_001320435.1:c.120C>A, XM_017024571.2:c.120C>A, XM_017024571.1:c.120C>A, XM_017024565.2:c.120C>A, XM_017024565.1:c.120C>A, XM_017024566.2:c.120C>A, XM_017024566.1:c.120C>A, XM_017024567.2:c.120C>A, XM_017024567.1:c.120C>A, XM_017024569.2:c.120C>A, XM_017024569.1:c.120C>A, XM_017024568.2:c.120C>A, XM_017024568.1:c.120C>A

Select item 144926476911.

rs1449264769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7356213 (GRCh38)
17:7259532 (GRCh37)
Canonical SPDI:: NC_000017.11:7356212:T:C
Gene:: TMEM95 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7356213T>C, NC_000017.10:g.7259532T>C, NW_021160020.1:g.114578T>C, NM_198154.3:c.370T>C, NM_198154.2:c.370T>C, NM_198154.1:c.370T>C, NM_001320436.2:c.346T>C, NM_001320436.1:c.346T>C, NM_001320435.2:c.346T>C, NM_001320435.1:c.346T>C, XM_017024571.2:c.346T>C, XM_017024571.1:c.346T>C, XM_017024565.2:c.346T>C, XM_017024565.1:c.346T>C, XM_017024566.2:c.265T>C, XM_017024566.1:c.265T>C, XM_017024567.2:c.244T>C, XM_017024567.1:c.244T>C, XM_017024569.2:c.346T>C, XM_017024569.1:c.346T>C, XM_017024568.2:c.346T>C, XM_017024568.1:c.346T>C, NP_937797.1:p.Tyr124His, NP_001307365.1:p.Tyr116His, NP_001307364.1:p.Tyr116His, XP_016880060.1:p.Tyr116His, XP_016880054.1:p.Tyr116His, XP_016880055.1:p.Tyr89His, XP_016880056.1:p.Tyr82His, XP_016880058.1:p.Tyr116His, XP_016880057.1:p.Tyr116His

Select item 144588343412.

rs1445883434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:7355607 (GRCh38)
17:7258926 (GRCh37)
Canonical SPDI:: NC_000017.11:7355606:T:C,NC_000017.11:7355606:T:G
Gene:: TMEM95 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7355607T>C, NC_000017.11:g.7355607T>G, NC_000017.10:g.7258926T>C, NC_000017.10:g.7258926T>G, NW_021160020.1:g.113972T>C, NW_021160020.1:g.113972T>G, NM_198154.3:c.191T>C, NM_198154.3:c.191T>G, NM_198154.2:c.191T>C, NM_198154.2:c.191T>G, NM_198154.1:c.191T>C, NM_198154.1:c.191T>G, NM_001320436.2:c.191T>C, NM_001320436.2:c.191T>G, NM_001320436.1:c.191T>C, NM_001320436.1:c.191T>G, NM_001320435.2:c.191T>C, NM_001320435.2:c.191T>G, NM_001320435.1:c.191T>C, NM_001320435.1:c.191T>G, XM_017024571.2:c.191T>C, XM_017024571.2:c.191T>G, XM_017024571.1:c.191T>C, XM_017024571.1:c.191T>G, XM_017024565.2:c.191T>C, XM_017024565.2:c.191T>G, XM_017024565.1:c.191T>C, XM_017024565.1:c.191T>G, XM_017024566.2:c.191T>C, XM_017024566.2:c.191T>G, XM_017024566.1:c.191T>C, XM_017024566.1:c.191T>G, XM_017024567.2:c.191T>C, XM_017024567.2:c.191T>G, XM_017024567.1:c.191T>C, XM_017024567.1:c.191T>G, XM_017024569.2:c.191T>C, XM_017024569.2:c.191T>G, XM_017024569.1:c.191T>C, XM_017024569.1:c.191T>G, XM_017024568.2:c.191T>C, XM_017024568.2:c.191T>G, XM_017024568.1:c.191T>C, XM_017024568.1:c.191T>G, NP_937797.1:p.Val64Ala, NP_937797.1:p.Val64Gly, NP_001307365.1:p.Val64Ala, NP_001307365.1:p.Val64Gly, NP_001307364.1:p.Val64Ala, NP_001307364.1:p.Val64Gly, XP_016880060.1:p.Val64Ala, XP_016880060.1:p.Val64Gly, XP_016880054.1:p.Val64Ala, XP_016880054.1:p.Val64Gly, XP_016880055.1:p.Val64Ala, XP_016880055.1:p.Val64Gly, XP_016880056.1:p.Val64Ala, XP_016880056.1:p.Val64Gly, XP_016880058.1:p.Val64Ala, XP_016880058.1:p.Val64Gly, XP_016880057.1:p.Val64Ala, XP_016880057.1:p.Val64Gly

Select item 144498243013.

rs1444982430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7355297 (GRCh38)
17:7258616 (GRCh37)
Canonical SPDI:: NC_000017.11:7355296:G:A
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7355297G>A, NC_000017.10:g.7258616G>A, NW_021160020.1:g.113662G>A, NM_198154.3:c.93G>A, NM_198154.2:c.93G>A, NM_198154.1:c.93G>A, NM_001320436.2:c.93G>A, NM_001320436.1:c.93G>A, NM_001320435.2:c.93G>A, NM_001320435.1:c.93G>A, XM_017024571.2:c.93G>A, XM_017024571.1:c.93G>A, XM_017024565.2:c.93G>A, XM_017024565.1:c.93G>A, XM_017024566.2:c.93G>A, XM_017024566.1:c.93G>A, XM_017024567.2:c.93G>A, XM_017024567.1:c.93G>A, XM_017024569.2:c.93G>A, XM_017024569.1:c.93G>A, XM_017024568.2:c.93G>A, XM_017024568.1:c.93G>A

Select item 144295462214.

rs1442954622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7356895 (GRCh38)
17:7260214 (GRCh37)
Canonical SPDI:: NC_000017.11:7356894:C:T
Gene:: TMEM95 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_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_000017.11:g.7356895C>T, NC_000017.10:g.7260214C>T, NW_021160020.1:g.115260C>T, NM_198154.3:c.*263C>T, NM_198154.2:c.*263C>T, NM_198154.1:c.*263C>T, NM_001320436.2:c.*263C>T, NM_001320436.1:c.*263C>T, NM_001320435.2:c.*174C>T, NM_001320435.1:c.*174C>T, XM_017024571.2:c.539C>T, XM_017024571.1:c.539C>T, XM_017024565.2:c.481C>T, XM_017024565.1:c.481C>T, XM_017024566.2:c.458C>T, XM_017024566.1:c.458C>T, XM_017024567.2:c.437C>T, XM_017024567.1:c.437C>T, XM_017024569.2:c.*96C>T, XM_017024569.1:c.*96C>T, XM_017024568.2:c.*38C>T, XM_017024568.1:c.*38C>T, XP_016880060.1:p.Pro180Leu, XP_016880054.1:p.Pro161Ser, XP_016880055.1:p.Pro153Leu, XP_016880056.1:p.Pro146Leu

Select item 143752366715.

rs1437523667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7355912 (GRCh38)
17:7259231 (GRCh37)
Canonical SPDI:: NC_000017.11:7355911:A:G
Gene:: TMEM95 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7355912A>G, NC_000017.10:g.7259231A>G, NW_021160020.1:g.114277A>G, NM_198154.3:c.301A>G, NM_198154.2:c.301A>G, NM_198154.1:c.301A>G, NM_001320436.2:c.301A>G, NM_001320436.1:c.301A>G, NM_001320435.2:c.301A>G, NM_001320435.1:c.301A>G, XM_017024571.2:c.301A>G, XM_017024571.1:c.301A>G, XM_017024565.2:c.301A>G, XM_017024565.1:c.301A>G, XM_017024569.2:c.301A>G, XM_017024569.1:c.301A>G, XM_017024568.2:c.301A>G, XM_017024568.1:c.301A>G, NP_937797.1:p.Arg101Gly, NP_001307365.1:p.Arg101Gly, NP_001307364.1:p.Arg101Gly, XP_016880060.1:p.Arg101Gly, XP_016880054.1:p.Arg101Gly, XP_016880058.1:p.Arg101Gly, XP_016880057.1:p.Arg101Gly

Select item 143292848816.

rs1432928488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7355312 (GRCh38)
17:7258631 (GRCh37)
Canonical SPDI:: NC_000017.11:7355311:C:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,synonymous_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_000017.11:g.7355312C>T, NC_000017.10:g.7258631C>T, NW_021160020.1:g.113677C>T, NM_198154.3:c.108C>T, NM_198154.2:c.108C>T, NM_198154.1:c.108C>T, NM_001320436.2:c.108C>T, NM_001320436.1:c.108C>T, NM_001320435.2:c.108C>T, NM_001320435.1:c.108C>T, XM_017024571.2:c.108C>T, XM_017024571.1:c.108C>T, XM_017024565.2:c.108C>T, XM_017024565.1:c.108C>T, XM_017024566.2:c.108C>T, XM_017024566.1:c.108C>T, XM_017024567.2:c.108C>T, XM_017024567.1:c.108C>T, XM_017024569.2:c.108C>T, XM_017024569.1:c.108C>T, XM_017024568.2:c.108C>T, XM_017024568.1:c.108C>T

Select item 142382887717.

rs1423828877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:7355356 (GRCh38)
17:7258675 (GRCh37)
Canonical SPDI:: NC_000017.11:7355355:T:G
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,500B_downstream_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_000017.11:g.7355356T>G, NC_000017.10:g.7258675T>G, NW_021160020.1:g.113721T>G, NM_198154.3:c.152T>G, NM_198154.2:c.152T>G, NM_198154.1:c.152T>G, NM_001320436.2:c.152T>G, NM_001320436.1:c.152T>G, NM_001320435.2:c.152T>G, NM_001320435.1:c.152T>G, XM_017024571.2:c.152T>G, XM_017024571.1:c.152T>G, XM_017024565.2:c.152T>G, XM_017024565.1:c.152T>G, XM_017024566.2:c.152T>G, XM_017024566.1:c.152T>G, XM_017024567.2:c.152T>G, XM_017024567.1:c.152T>G, XM_017024569.2:c.152T>G, XM_017024569.1:c.152T>G, XM_017024568.2:c.152T>G, XM_017024568.1:c.152T>G, NP_937797.1:p.Phe51Cys, NP_001307365.1:p.Phe51Cys, NP_001307364.1:p.Phe51Cys, XP_016880060.1:p.Phe51Cys, XP_016880054.1:p.Phe51Cys, XP_016880055.1:p.Phe51Cys, XP_016880056.1:p.Phe51Cys, XP_016880058.1:p.Phe51Cys, XP_016880057.1:p.Phe51Cys

Select item 142315320218.

rs1423153202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7355629 (GRCh38)
17:7258948 (GRCh37)
Canonical SPDI:: NC_000017.11:7355628:C:T
Gene:: TMEM95 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.7355629C>T, NC_000017.10:g.7258948C>T, NW_021160020.1:g.113994C>T, NM_198154.3:c.213C>T, NM_198154.2:c.213C>T, NM_198154.1:c.213C>T, NM_001320436.2:c.213C>T, NM_001320436.1:c.213C>T, NM_001320435.2:c.213C>T, NM_001320435.1:c.213C>T, XM_017024571.2:c.213C>T, XM_017024571.1:c.213C>T, XM_017024565.2:c.213C>T, XM_017024565.1:c.213C>T, XM_017024566.2:c.213C>T, XM_017024566.1:c.213C>T, XM_017024567.2:c.213C>T, XM_017024567.1:c.213C>T, XM_017024569.2:c.213C>T, XM_017024569.1:c.213C>T, XM_017024568.2:c.213C>T, XM_017024568.1:c.213C>T

Select item 141954970619.

rs1419549706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7355606 (GRCh38)
17:7258925 (GRCh37)
Canonical SPDI:: NC_000017.11:7355605:G:A
Gene:: TMEM95 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7355606G>A, NC_000017.10:g.7258925G>A, NW_021160020.1:g.113971G>A, NM_198154.3:c.190G>A, NM_198154.2:c.190G>A, NM_198154.1:c.190G>A, NM_001320436.2:c.190G>A, NM_001320436.1:c.190G>A, NM_001320435.2:c.190G>A, NM_001320435.1:c.190G>A, XM_017024571.2:c.190G>A, XM_017024571.1:c.190G>A, XM_017024565.2:c.190G>A, XM_017024565.1:c.190G>A, XM_017024566.2:c.190G>A, XM_017024566.1:c.190G>A, XM_017024567.2:c.190G>A, XM_017024567.1:c.190G>A, XM_017024569.2:c.190G>A, XM_017024569.1:c.190G>A, XM_017024568.2:c.190G>A, XM_017024568.1:c.190G>A, NP_937797.1:p.Val64Ile, NP_001307365.1:p.Val64Ile, NP_001307364.1:p.Val64Ile, XP_016880060.1:p.Val64Ile, XP_016880054.1:p.Val64Ile, XP_016880055.1:p.Val64Ile, XP_016880056.1:p.Val64Ile, XP_016880058.1:p.Val64Ile, XP_016880057.1:p.Val64Ile

Select item 141888154520.

rs1418881545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7355866 (GRCh38)
17:7259185 (GRCh37)
Canonical SPDI:: NC_000017.11:7355865:T:C
Gene:: TMEM95 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7355866T>C, NC_000017.10:g.7259185T>C, NW_021160020.1:g.114231T>C, NM_198154.3:c.255T>C, NM_198154.2:c.255T>C, NM_198154.1:c.255T>C, NM_001320436.2:c.255T>C, NM_001320436.1:c.255T>C, NM_001320435.2:c.255T>C, NM_001320435.1:c.255T>C, XM_017024571.2:c.255T>C, XM_017024571.1:c.255T>C, XM_017024565.2:c.255T>C, XM_017024565.1:c.255T>C, XM_017024569.2:c.255T>C, XM_017024569.1:c.255T>C, XM_017024568.2:c.255T>C, XM_017024568.1:c.255T>C

dbSNP

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 225

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