SNP Links for Protein (Select 1021589376) - SNP

Select item 14890427611.

rs1489042761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:40745114 (GRCh38)
15:41037312 (GRCh37)
Canonical SPDI:: NC_000015.10:40745113:A:G
Gene:: RMDN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40745114A>G, NC_000015.9:g.41037312A>G, NM_018145.3:c.670T>C, NM_018145.2:c.670T>C, NM_018145.1:c.670T>C, XM_011521755.3:c.52T>C, XM_011521755.2:c.52T>C, XM_011521755.1:c.52T>C, NM_001323895.2:c.283T>C, NM_001323895.1:c.283T>C, NM_001323897.2:c.670T>C, NM_001323897.1:c.670T>C, NM_001304802.2:c.670T>C, NM_001304802.1:c.670T>C, NM_001323896.2:c.670T>C, NM_001323896.1:c.670T>C, NM_001323894.2:c.670T>C, NM_001323894.1:c.670T>C, NP_060615.1:p.Ser224Pro, XP_011520057.1:p.Ser18Pro, NP_001310824.1:p.Ser95Pro, NP_001310826.1:p.Ser224Pro, NP_001291731.1:p.Ser224Pro, NP_001310825.1:p.Ser224Pro, NP_001310823.1:p.Ser224Pro

Select item 14879643752.

rs1487964375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:40738037 (GRCh38)
15:41030235 (GRCh37)
Canonical SPDI:: NC_000015.10:40738036:A:C
Gene:: RMDN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40738037A>C, NC_000015.9:g.41030235A>C, NM_018145.3:c.1053T>G, NM_018145.2:c.1053T>G, NM_018145.1:c.1053T>G, XM_011521755.3:c.435T>G, XM_011521755.2:c.435T>G, XM_011521755.1:c.435T>G, NM_001323895.2:c.666T>G, NM_001323895.1:c.666T>G, NM_001323897.2:c.1131T>G, NM_001323897.1:c.1131T>G, NM_001304802.2:c.1053T>G, NM_001304802.1:c.1053T>G, NM_001323896.2:c.1131T>G, NM_001323896.1:c.1131T>G, NM_001323894.2:c.1053T>G, NM_001323894.1:c.1053T>G, NP_060615.1:p.His351Gln, XP_011520057.1:p.His145Gln, NP_001310824.1:p.His222Gln, NP_001310826.1:p.His377Gln, NP_001291731.1:p.His351Gln, NP_001310825.1:p.His377Gln, NP_001310823.1:p.His351Gln

Select item 14869821903.

rs1486982190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:40737633 (GRCh38)
15:41029831 (GRCh37)
Canonical SPDI:: NC_000015.10:40737632:G:A,NC_000015.10:40737632:G:C
Gene:: RMDN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.40737633G>A, NC_000015.10:g.40737633G>C, NC_000015.9:g.41029831G>A, NC_000015.9:g.41029831G>C, NM_018145.3:c.1219C>T, NM_018145.3:c.1219C>G, NM_018145.2:c.1219C>T, NM_018145.2:c.1219C>G, NM_018145.1:c.1219C>T, NM_018145.1:c.1219C>G, XM_011521755.3:c.601C>T, XM_011521755.3:c.601C>G, XM_011521755.2:c.601C>T, XM_011521755.2:c.601C>G, XM_011521755.1:c.601C>T, XM_011521755.1:c.601C>G, NM_001323895.2:c.832C>T, NM_001323895.2:c.832C>G, NM_001323895.1:c.832C>T, NM_001323895.1:c.832C>G, NM_001323897.2:c.1297C>T, NM_001323897.2:c.1297C>G, NM_001323897.1:c.1297C>T, NM_001323897.1:c.1297C>G, NM_001304802.2:c.1219C>T, NM_001304802.2:c.1219C>G, NM_001304802.1:c.1219C>T, NM_001304802.1:c.1219C>G, NM_001323896.2:c.1297C>T, NM_001323896.2:c.1297C>G, NM_001323896.1:c.1297C>T, NM_001323896.1:c.1297C>G, NM_001323894.2:c.1219C>T, NM_001323894.2:c.1219C>G, NM_001323894.1:c.1219C>T, NM_001323894.1:c.1219C>G, NP_060615.1:p.Leu407Val, XP_011520057.1:p.Leu201Val, NP_001310824.1:p.Leu278Val, NP_001310826.1:p.Leu433Val, NP_001291731.1:p.Leu407Val, NP_001310825.1:p.Leu433Val, NP_001310823.1:p.Leu407Val

Select item 14867464514.

rs1486746451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:40754744 (GRCh38)
15:41046942 (GRCh37)
Canonical SPDI:: NC_000015.10:40754743:G:C
Gene:: RMDN3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40754744G>C, NC_000015.9:g.41046942G>C, NM_018145.3:c.40C>G, NM_018145.2:c.40C>G, NM_018145.1:c.40C>G, NM_001323895.2:c.-449C>G, NM_001323895.1:c.-449C>G, NM_001323897.2:c.40C>G, NM_001323897.1:c.40C>G, NM_001304802.2:c.40C>G, NM_001304802.1:c.40C>G, NM_001323896.2:c.40C>G, NM_001323896.1:c.40C>G, NM_001323894.2:c.40C>G, NM_001323894.1:c.40C>G, NP_060615.1:p.Leu14Val, NP_001310826.1:p.Leu14Val, NP_001291731.1:p.Leu14Val, NP_001310825.1:p.Leu14Val, NP_001310823.1:p.Leu14Val

Select item 14835274595.

rs1483527459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:40738027 (GRCh38)
15:41030225 (GRCh37)
Canonical SPDI:: NC_000015.10:40738026:C:G
Gene:: RMDN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.40738027C>G, NC_000015.9:g.41030225C>G, NM_018145.3:c.1063G>C, NM_018145.2:c.1063G>C, NM_018145.1:c.1063G>C, XM_011521755.3:c.445G>C, XM_011521755.2:c.445G>C, XM_011521755.1:c.445G>C, NM_001323895.2:c.676G>C, NM_001323895.1:c.676G>C, NM_001323897.2:c.1141G>C, NM_001323897.1:c.1141G>C, NM_001304802.2:c.1063G>C, NM_001304802.1:c.1063G>C, NM_001323896.2:c.1141G>C, NM_001323896.1:c.1141G>C, NM_001323894.2:c.1063G>C, NM_001323894.1:c.1063G>C, NP_060615.1:p.Ala355Pro, XP_011520057.1:p.Ala149Pro, NP_001310824.1:p.Ala226Pro, NP_001310826.1:p.Ala381Pro, NP_001291731.1:p.Ala355Pro, NP_001310825.1:p.Ala381Pro, NP_001310823.1:p.Ala355Pro

Select item 14792656306.

rs1479265630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:40744982 (GRCh38)
15:41037180 (GRCh37)
Canonical SPDI:: NC_000015.10:40744981:G:C
Gene:: RMDN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.40744982G>C, NC_000015.9:g.41037180G>C, NM_018145.3:c.802C>G, NM_018145.2:c.802C>G, NM_018145.1:c.802C>G, XM_011521755.3:c.184C>G, XM_011521755.2:c.184C>G, XM_011521755.1:c.184C>G, NM_001323895.2:c.415C>G, NM_001323895.1:c.415C>G, NM_001323897.2:c.802C>G, NM_001323897.1:c.802C>G, NM_001304802.2:c.802C>G, NM_001304802.1:c.802C>G, NM_001323896.2:c.802C>G, NM_001323896.1:c.802C>G, NM_001323894.2:c.802C>G, NM_001323894.1:c.802C>G, NP_060615.1:p.Leu268Val, XP_011520057.1:p.Leu62Val, NP_001310824.1:p.Leu139Val, NP_001310826.1:p.Leu268Val, NP_001291731.1:p.Leu268Val, NP_001310825.1:p.Leu268Val, NP_001310823.1:p.Leu268Val

Select item 14788004617.

rs1478800461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:40752071 (GRCh38)
15:41044269 (GRCh37)
Canonical SPDI:: NC_000015.10:40752070:T:C
Gene:: RMDN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000085/3 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000036/5 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000015.10:g.40752071T>C, NC_000015.9:g.41044269T>C, NM_018145.3:c.295A>G, NM_018145.2:c.295A>G, NM_018145.1:c.295A>G, NM_001323895.2:c.-194A>G, NM_001323895.1:c.-194A>G, NM_001323897.2:c.295A>G, NM_001323897.1:c.295A>G, NM_001304802.2:c.295A>G, NM_001304802.1:c.295A>G, NM_001323896.2:c.295A>G, NM_001323896.1:c.295A>G, NM_001323894.2:c.295A>G, NM_001323894.1:c.295A>G, NP_060615.1:p.Thr99Ala, NP_001310826.1:p.Thr99Ala, NP_001291731.1:p.Thr99Ala, NP_001310825.1:p.Thr99Ala, NP_001310823.1:p.Thr99Ala

Select item 14746639838.

rs1474663983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:40745074 (GRCh38)
15:41037272 (GRCh37)
Canonical SPDI:: NC_000015.10:40745073:T:C
Gene:: RMDN3 (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=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.40745074T>C, NC_000015.9:g.41037272T>C, NM_018145.3:c.710A>G, NM_018145.2:c.710A>G, NM_018145.1:c.710A>G, XM_011521755.3:c.92A>G, XM_011521755.2:c.92A>G, XM_011521755.1:c.92A>G, NM_001323895.2:c.323A>G, NM_001323895.1:c.323A>G, NM_001323897.2:c.710A>G, NM_001323897.1:c.710A>G, NM_001304802.2:c.710A>G, NM_001304802.1:c.710A>G, NM_001323896.2:c.710A>G, NM_001323896.1:c.710A>G, NM_001323894.2:c.710A>G, NM_001323894.1:c.710A>G, NP_060615.1:p.Asp237Gly, XP_011520057.1:p.Asp31Gly, NP_001310824.1:p.Asp108Gly, NP_001310826.1:p.Asp237Gly, NP_001291731.1:p.Asp237Gly, NP_001310825.1:p.Asp237Gly, NP_001310823.1:p.Asp237Gly

Select item 14745496599.

rs1474549659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 15:40754753 (GRCh38)
15:41046951 (GRCh37)
Canonical SPDI:: NC_000015.10:40754752:G:A,NC_000015.10:40754752:G:C,NC_000015.10:40754752:G:T
Gene:: RMDN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.40754753G>A, NC_000015.10:g.40754753G>C, NC_000015.10:g.40754753G>T, NC_000015.9:g.41046951G>A, NC_000015.9:g.41046951G>C, NC_000015.9:g.41046951G>T, NM_018145.3:c.31C>T, NM_018145.3:c.31C>G, NM_018145.3:c.31C>A, NM_018145.2:c.31C>T, NM_018145.2:c.31C>G, NM_018145.2:c.31C>A, NM_018145.1:c.31C>T, NM_018145.1:c.31C>G, NM_018145.1:c.31C>A, NM_001323895.2:c.-458C>T, NM_001323895.2:c.-458C>G, NM_001323895.2:c.-458C>A, NM_001323895.1:c.-458C>T, NM_001323895.1:c.-458C>G, NM_001323895.1:c.-458C>A, NM_001323897.2:c.31C>T, NM_001323897.2:c.31C>G, NM_001323897.2:c.31C>A, NM_001323897.1:c.31C>T, NM_001323897.1:c.31C>G, NM_001323897.1:c.31C>A, NM_001304802.2:c.31C>T, NM_001304802.2:c.31C>G, NM_001304802.2:c.31C>A, NM_001304802.1:c.31C>T, NM_001304802.1:c.31C>G, NM_001304802.1:c.31C>A, NM_001323896.2:c.31C>T, NM_001323896.2:c.31C>G, NM_001323896.2:c.31C>A, NM_001323896.1:c.31C>T, NM_001323896.1:c.31C>G, NM_001323896.1:c.31C>A, NM_001323894.2:c.31C>T, NM_001323894.2:c.31C>G, NM_001323894.2:c.31C>A, NM_001323894.1:c.31C>T, NM_001323894.1:c.31C>G, NM_001323894.1:c.31C>A, NP_060615.1:p.Arg11Cys, NP_060615.1:p.Arg11Gly, NP_060615.1:p.Arg11Ser, NP_001310826.1:p.Arg11Cys, NP_001310826.1:p.Arg11Gly, NP_001310826.1:p.Arg11Ser, NP_001291731.1:p.Arg11Cys, NP_001291731.1:p.Arg11Gly, NP_001291731.1:p.Arg11Ser, NP_001310825.1:p.Arg11Cys, NP_001310825.1:p.Arg11Gly, NP_001310825.1:p.Arg11Ser, NP_001310823.1:p.Arg11Cys, NP_001310823.1:p.Arg11Gly, NP_001310823.1:p.Arg11Ser

Select item 147441577610.

rs1474415776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40751459 (GRCh38)
15:41043657 (GRCh37)
Canonical SPDI:: NC_000015.10:40751458:C:T
Gene:: RMDN3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.40751459C>T, NC_000015.9:g.41043657C>T, NM_018145.3:c.491G>A, NM_018145.2:c.491G>A, NM_018145.1:c.491G>A, NM_001323895.2:c.104G>A, NM_001323895.1:c.104G>A, NM_001323897.2:c.491G>A, NM_001323897.1:c.491G>A, NM_001304802.2:c.491G>A, NM_001304802.1:c.491G>A, NM_001323896.2:c.491G>A, NM_001323896.1:c.491G>A, NM_001323894.2:c.491G>A, NM_001323894.1:c.491G>A, NP_060615.1:p.Gly164Glu, NP_001310824.1:p.Gly35Glu, NP_001310826.1:p.Gly164Glu, NP_001291731.1:p.Gly164Glu, NP_001310825.1:p.Gly164Glu, NP_001310823.1:p.Gly164Glu

Select item 147435623811.

rs1474356238 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 15:40752170 (GRCh38)
15:41044368 (GRCh37)
Canonical SPDI:: NC_000015.10:40752169:GG:G
Gene:: RMDN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40752171del, NC_000015.9:g.41044369del, NM_018145.3:c.196del, NM_018145.2:c.196del, NM_018145.1:c.196del, NM_001323895.2:c.-293del, NM_001323895.1:c.-293del, NM_001323897.2:c.196del, NM_001323897.1:c.196del, NM_001304802.2:c.196del, NM_001304802.1:c.196del, NM_001323896.2:c.196del, NM_001323896.1:c.196del, NM_001323894.2:c.196del, NM_001323894.1:c.196del, NP_060615.1:p.Leu66fs, NP_001310826.1:p.Leu66fs, NP_001291731.1:p.Leu66fs, NP_001310825.1:p.Leu66fs, NP_001310823.1:p.Leu66fs

Select item 147424066612.

rs1474240666 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:40738005 (GRCh38)
15:41030203 (GRCh37)
Canonical SPDI:: NC_000015.10:40738004:T:A
Gene:: RMDN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000015.10:g.40738005T>A, NC_000015.9:g.41030203T>A, NM_018145.3:c.1085A>T, NM_018145.2:c.1085A>T, NM_018145.1:c.1085A>T, XM_011521755.3:c.467A>T, XM_011521755.2:c.467A>T, XM_011521755.1:c.467A>T, NM_001323895.2:c.698A>T, NM_001323895.1:c.698A>T, NM_001323897.2:c.1163A>T, NM_001323897.1:c.1163A>T, NM_001304802.2:c.1085A>T, NM_001304802.1:c.1085A>T, NM_001323896.2:c.1163A>T, NM_001323896.1:c.1163A>T, NM_001323894.2:c.1085A>T, NM_001323894.1:c.1085A>T, NP_060615.1:p.Asn362Ile, XP_011520057.1:p.Asn156Ile, NP_001310824.1:p.Asn233Ile, NP_001310826.1:p.Asn388Ile, NP_001291731.1:p.Asn362Ile, NP_001310825.1:p.Asn388Ile, NP_001310823.1:p.Asn362Ile

Select item 147283752213.

rs1472837522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:40738558 (GRCh38)
15:41030756 (GRCh37)
Canonical SPDI:: NC_000015.10:40738557:A:G
Gene:: RMDN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40738558A>G, NC_000015.9:g.41030756A>G, NM_018145.3:c.990T>C, NM_018145.2:c.990T>C, NM_018145.1:c.990T>C, XM_011521755.3:c.372T>C, XM_011521755.2:c.372T>C, XM_011521755.1:c.372T>C, NM_001323895.2:c.603T>C, NM_001323895.1:c.603T>C, NM_001323897.2:c.1068T>C, NM_001323897.1:c.1068T>C, NM_001304802.2:c.990T>C, NM_001304802.1:c.990T>C, NM_001323896.2:c.1068T>C, NM_001323896.1:c.1068T>C, NM_001323894.2:c.990T>C, NM_001323894.1:c.990T>C

Select item 147050086914.

rs1470500869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:40737985 (GRCh38)
15:41030183 (GRCh37)
Canonical SPDI:: NC_000015.10:40737984:G:A,NC_000015.10:40737984:G:C
Gene:: RMDN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.00007/1 (TOMMO)
HGVS:: NC_000015.10:g.40737985G>A, NC_000015.10:g.40737985G>C, NC_000015.9:g.41030183G>A, NC_000015.9:g.41030183G>C, NM_018145.3:c.1105C>T, NM_018145.3:c.1105C>G, NM_018145.2:c.1105C>T, NM_018145.2:c.1105C>G, NM_018145.1:c.1105C>T, NM_018145.1:c.1105C>G, XM_011521755.3:c.487C>T, XM_011521755.3:c.487C>G, XM_011521755.2:c.487C>T, XM_011521755.2:c.487C>G, XM_011521755.1:c.487C>T, XM_011521755.1:c.487C>G, NM_001323895.2:c.718C>T, NM_001323895.2:c.718C>G, NM_001323895.1:c.718C>T, NM_001323895.1:c.718C>G, NM_001323897.2:c.1183C>T, NM_001323897.2:c.1183C>G, NM_001323897.1:c.1183C>T, NM_001323897.1:c.1183C>G, NM_001304802.2:c.1105C>T, NM_001304802.2:c.1105C>G, NM_001304802.1:c.1105C>T, NM_001304802.1:c.1105C>G, NM_001323896.2:c.1183C>T, NM_001323896.2:c.1183C>G, NM_001323896.1:c.1183C>T, NM_001323896.1:c.1183C>G, NM_001323894.2:c.1105C>T, NM_001323894.2:c.1105C>G, NM_001323894.1:c.1105C>T, NM_001323894.1:c.1105C>G, NP_060615.1:p.Leu369Phe, NP_060615.1:p.Leu369Val, XP_011520057.1:p.Leu163Phe, XP_011520057.1:p.Leu163Val, NP_001310824.1:p.Leu240Phe, NP_001310824.1:p.Leu240Val, NP_001310826.1:p.Leu395Phe, NP_001310826.1:p.Leu395Val, NP_001291731.1:p.Leu369Phe, NP_001291731.1:p.Leu369Val, NP_001310825.1:p.Leu395Phe, NP_001310825.1:p.Leu395Val, NP_001310823.1:p.Leu369Phe, NP_001310823.1:p.Leu369Val

Select item 146911815415.

rs1469118154 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:40737704 (GRCh38)
15:41029903 (GRCh37)
Canonical SPDI:: NC_000015.10:40737704:C:CC
Gene:: RMDN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000015.10:g.40737705dup, NC_000015.9:g.41029903dup, NM_018145.3:c.1147dup, NM_018145.2:c.1147dup, NM_018145.1:c.1147dup, XM_011521755.3:c.529dup, XM_011521755.2:c.529dup, XM_011521755.1:c.529dup, NM_001323895.2:c.760dup, NM_001323895.1:c.760dup, NM_001323897.2:c.1225dup, NM_001323897.1:c.1225dup, NM_001304802.2:c.1147dup, NM_001304802.1:c.1147dup, NM_001323896.2:c.1225dup, NM_001323896.1:c.1225dup, NM_001323894.2:c.1147dup, NM_001323894.1:c.1147dup, NP_060615.1:p.Glu383fs, XP_011520057.1:p.Glu177fs, NP_001310824.1:p.Glu254fs, NP_001310826.1:p.Glu409fs, NP_001291731.1:p.Glu383fs, NP_001310825.1:p.Glu409fs, NP_001310823.1:p.Glu383fs

Select item 146819295316.

rs1468192953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:40751473 (GRCh38)
15:41043671 (GRCh37)
Canonical SPDI:: NC_000015.10:40751472:G:A
Gene:: RMDN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_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_000015.10:g.40751473G>A, NC_000015.9:g.41043671G>A, NM_018145.3:c.477C>T, NM_018145.2:c.477C>T, NM_018145.1:c.477C>T, NM_001323895.2:c.90C>T, NM_001323895.1:c.90C>T, NM_001323897.2:c.477C>T, NM_001323897.1:c.477C>T, NM_001304802.2:c.477C>T, NM_001304802.1:c.477C>T, NM_001323896.2:c.477C>T, NM_001323896.1:c.477C>T, NM_001323894.2:c.477C>T, NM_001323894.1:c.477C>T

Select item 146693495917.

rs1466934959 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 15:40737181 (GRCh38)
15:41029379 (GRCh37)
Canonical SPDI:: NC_000015.10:40737180:G:
Gene:: RMDN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.40737181del, NC_000015.9:g.41029379del, NM_018145.3:c.1302del, NM_018145.2:c.1302del, NM_018145.1:c.1302del, XM_011521755.3:c.684del, XM_011521755.2:c.684del, XM_011521755.1:c.684del, NM_001323895.2:c.915del, NM_001323895.1:c.915del, NM_001323897.2:c.1380del, NM_001323897.1:c.1380del, NM_001304802.2:c.1302del, NM_001304802.1:c.1302del, NM_001323896.2:c.1380del, NM_001323896.1:c.1380del, NM_001323894.2:c.1302del, NM_001323894.1:c.1302del, NP_060615.1:p.Ser435fs, XP_011520057.1:p.Ser229fs, NP_001310824.1:p.Ser306fs, NP_001310826.1:p.Ser461fs, NP_001291731.1:p.Ser435fs, NP_001310825.1:p.Ser461fs, NP_001310823.1:p.Ser435fs

Select item 146592505818.

rs1465925058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40737665 (GRCh38)
15:41029863 (GRCh37)
Canonical SPDI:: NC_000015.10:40737664:C:T
Gene:: RMDN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.40737665C>T, NC_000015.9:g.41029863C>T, NM_018145.3:c.1187G>A, NM_018145.2:c.1187G>A, NM_018145.1:c.1187G>A, XM_011521755.3:c.569G>A, XM_011521755.2:c.569G>A, XM_011521755.1:c.569G>A, NM_001323895.2:c.800G>A, NM_001323895.1:c.800G>A, NM_001323897.2:c.1265G>A, NM_001323897.1:c.1265G>A, NM_001304802.2:c.1187G>A, NM_001304802.1:c.1187G>A, NM_001323896.2:c.1265G>A, NM_001323896.1:c.1265G>A, NM_001323894.2:c.1187G>A, NM_001323894.1:c.1187G>A, NP_060615.1:p.Ser396Asn, XP_011520057.1:p.Ser190Asn, NP_001310824.1:p.Ser267Asn, NP_001310826.1:p.Ser422Asn, NP_001291731.1:p.Ser396Asn, NP_001310825.1:p.Ser422Asn, NP_001310823.1:p.Ser396Asn

Select item 146556522419.

rs1465565224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:40744081 (GRCh38)
15:41036279 (GRCh37)
Canonical SPDI:: NC_000015.10:40744080:C:G
Gene:: RMDN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40744081C>G, NC_000015.9:g.41036279C>G, NM_018145.3:c.876G>C, NM_018145.2:c.876G>C, NM_018145.1:c.876G>C, XM_011521755.3:c.258G>C, XM_011521755.2:c.258G>C, XM_011521755.1:c.258G>C, NM_001323895.2:c.489G>C, NM_001323895.1:c.489G>C, NM_001323897.2:c.954G>C, NM_001323897.1:c.954G>C, NM_001304802.2:c.876G>C, NM_001304802.1:c.876G>C, NM_001323896.2:c.954G>C, NM_001323896.1:c.954G>C, NM_001323894.2:c.876G>C, NM_001323894.1:c.876G>C, NP_060615.1:p.Glu292Asp, XP_011520057.1:p.Glu86Asp, NP_001310824.1:p.Glu163Asp, NP_001310826.1:p.Glu318Asp, NP_001291731.1:p.Glu292Asp, NP_001310825.1:p.Glu318Asp, NP_001310823.1:p.Glu292Asp

Select item 146390798920.

rs1463907989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:40737291 (GRCh38)
15:41029489 (GRCh37)
Canonical SPDI:: NC_000015.10:40737290:G:C
Gene:: RMDN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40737291G>C, NC_000015.9:g.41029489G>C, NM_018145.3:c.1275C>G, NM_018145.2:c.1275C>G, NM_018145.1:c.1275C>G, XM_011521755.3:c.657C>G, XM_011521755.2:c.657C>G, XM_011521755.1:c.657C>G, NM_001323895.2:c.888C>G, NM_001323895.1:c.888C>G, NM_001323897.2:c.1353C>G, NM_001323897.1:c.1353C>G, NM_001304802.2:c.1275C>G, NM_001304802.1:c.1275C>G, NM_001323896.2:c.1353C>G, NM_001323896.1:c.1353C>G, NM_001323894.2:c.1275C>G, NM_001323894.1:c.1275C>G

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Result Filters

Validation Status

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Global MAF

Custom range

Additional filters

Display Settings:

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Items: 1 to 20 of 505

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