SNP Links for Protein (Select 550544217) - SNP

Links from Protein

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Select item 14907901301.

rs1490790130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:38949978 (GRCh38)
5:38950080 (GRCh37)
Canonical SPDI:: NC_000005.10:38949977:T:C
Gene:: RICTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.38949978T>C, NC_000005.9:g.38950080T>C, NM_152756.5:c.3870A>G, NM_152756.4:c.3870A>G, NM_152756.3:c.3870A>G, XM_006714463.4:c.3870A>G, XM_006714463.3:c.3870A>G, XM_006714463.2:c.3870A>G, XM_006714463.1:c.3870A>G, XM_011514006.4:c.3681A>G, XM_011514006.3:c.3681A>G, XM_011514006.2:c.3681A>G, XM_011514006.1:c.3681A>G, XM_011514005.3:c.3870A>G, XM_011514005.2:c.3870A>G, XM_011514005.1:c.3870A>G, NM_001285439.2:c.3870A>G, NM_001285439.1:c.3870A>G, XM_017009311.2:c.3822A>G, XM_017009311.1:c.3822A>G, XM_017009312.2:c.3822A>G, XM_017009312.1:c.3822A>G, NM_001285440.2:c.3015A>G, NM_001285440.1:c.3015A>G, XM_047417068.1:c.3711A>G, XM_047417069.1:c.3822A>G, XM_047417070.1:c.3822A>G

Select item 14905754512.

rs1490575451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:38966665 (GRCh38)
5:38966767 (GRCh37)
Canonical SPDI:: NC_000005.10:38966664:G:C
Gene:: RICTOR (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)
HGVS:: NC_000005.10:g.38966665G>C, NC_000005.9:g.38966767G>C, NM_152756.5:c.1275C>G, NM_152756.4:c.1275C>G, NM_152756.3:c.1275C>G, XM_006714463.4:c.1275C>G, XM_006714463.3:c.1275C>G, XM_006714463.2:c.1275C>G, XM_006714463.1:c.1275C>G, XM_011514006.4:c.1086C>G, XM_011514006.3:c.1086C>G, XM_011514006.2:c.1086C>G, XM_011514006.1:c.1086C>G, XM_011514005.3:c.1275C>G, XM_011514005.2:c.1275C>G, XM_011514005.1:c.1275C>G, NM_001285439.2:c.1275C>G, NM_001285439.1:c.1275C>G, XM_017009311.2:c.1227C>G, XM_017009311.1:c.1227C>G, XM_017009312.2:c.1227C>G, XM_017009312.1:c.1227C>G, NM_001285440.2:c.420C>G, NM_001285440.1:c.420C>G, XM_047417068.1:c.1116C>G, XM_047417069.1:c.1227C>G, XM_047417070.1:c.1227C>G, NP_689969.2:p.Ile425Met, XP_006714526.1:p.Ile425Met, XP_011512308.1:p.Ile362Met, XP_011512307.1:p.Ile425Met, NP_001272368.1:p.Ile425Met, XP_016864800.1:p.Ile409Met, XP_016864801.1:p.Ile409Met, NP_001272369.1:p.Ile140Met, XP_047273024.1:p.Ile372Met, XP_047273025.1:p.Ile409Met, XP_047273026.1:p.Ile409Met

Select item 14900912153.

rs1490091215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:38945612 (GRCh38)
5:38945714 (GRCh37)
Canonical SPDI:: NC_000005.10:38945611:T:C
Gene:: OSMR (Varview), RICTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,splice_acceptor_variant,downstream_transcript_variant,500B_downstream_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_000005.10:g.38945612T>C, NC_000005.9:g.38945714T>C, NM_152756.5:c.4512A>G, NM_152756.4:c.4512A>G, NM_152756.3:c.4512A>G, XM_011514006.4:c.4395A>G, XM_011514006.3:c.4395A>G, XM_011514006.2:c.4395A>G, XM_011514006.1:c.4395A>G, NM_001285439.2:c.4584A>G, NM_001285439.1:c.4584A>G, XM_017009311.2:c.4536A>G, XM_017009311.1:c.4536A>G, XM_017009312.2:c.4464A>G, XM_017009312.1:c.4464A>G, XM_047417068.1:c.4425A>G

Select item 14893595524.

rs1489359552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:38955665 (GRCh38)
5:38955767 (GRCh37)
Canonical SPDI:: NC_000005.10:38955664:G:A
Gene:: RICTOR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000005.10:g.38955665G>A, NC_000005.9:g.38955767G>A, NM_152756.5:c.2539C>T, NM_152756.4:c.2539C>T, NM_152756.3:c.2539C>T, XM_006714463.4:c.2539C>T, XM_006714463.3:c.2539C>T, XM_006714463.2:c.2539C>T, XM_006714463.1:c.2539C>T, XM_011514006.4:c.2350C>T, XM_011514006.3:c.2350C>T, XM_011514006.2:c.2350C>T, XM_011514006.1:c.2350C>T, XM_011514005.3:c.2539C>T, XM_011514005.2:c.2539C>T, XM_011514005.1:c.2539C>T, NM_001285439.2:c.2539C>T, NM_001285439.1:c.2539C>T, XM_017009311.2:c.2491C>T, XM_017009311.1:c.2491C>T, XM_017009312.2:c.2491C>T, XM_017009312.1:c.2491C>T, NM_001285440.2:c.1684C>T, NM_001285440.1:c.1684C>T, XM_047417068.1:c.2380C>T, XM_047417069.1:c.2491C>T, XM_047417070.1:c.2491C>T, NP_689969.2:p.Leu847Phe, XP_006714526.1:p.Leu847Phe, XP_011512308.1:p.Leu784Phe, XP_011512307.1:p.Leu847Phe, NP_001272368.1:p.Leu847Phe, XP_016864800.1:p.Leu831Phe, XP_016864801.1:p.Leu831Phe, NP_001272369.1:p.Leu562Phe, XP_047273024.1:p.Leu794Phe, XP_047273025.1:p.Leu831Phe, XP_047273026.1:p.Leu831Phe

Select item 14892429505.

rs1489242950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:38950162 (GRCh38)
5:38950264 (GRCh37)
Canonical SPDI:: NC_000005.10:38950161:A:C,NC_000005.10:38950161:A:G
Gene:: RICTOR (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.38950162A>C, NC_000005.10:g.38950162A>G, NC_000005.9:g.38950264A>C, NC_000005.9:g.38950264A>G, NM_152756.5:c.3686T>G, NM_152756.5:c.3686T>C, NM_152756.4:c.3686T>G, NM_152756.4:c.3686T>C, NM_152756.3:c.3686T>G, NM_152756.3:c.3686T>C, XM_006714463.4:c.3686T>G, XM_006714463.4:c.3686T>C, XM_006714463.3:c.3686T>G, XM_006714463.3:c.3686T>C, XM_006714463.2:c.3686T>G, XM_006714463.2:c.3686T>C, XM_006714463.1:c.3686T>G, XM_006714463.1:c.3686T>C, XM_011514006.4:c.3497T>G, XM_011514006.4:c.3497T>C, XM_011514006.3:c.3497T>G, XM_011514006.3:c.3497T>C, XM_011514006.2:c.3497T>G, XM_011514006.2:c.3497T>C, XM_011514006.1:c.3497T>G, XM_011514006.1:c.3497T>C, XM_011514005.3:c.3686T>G, XM_011514005.3:c.3686T>C, XM_011514005.2:c.3686T>G, XM_011514005.2:c.3686T>C, XM_011514005.1:c.3686T>G, XM_011514005.1:c.3686T>C, NM_001285439.2:c.3686T>G, NM_001285439.2:c.3686T>C, NM_001285439.1:c.3686T>G, NM_001285439.1:c.3686T>C, XM_017009311.2:c.3638T>G, XM_017009311.2:c.3638T>C, XM_017009311.1:c.3638T>G, XM_017009311.1:c.3638T>C, XM_017009312.2:c.3638T>G, XM_017009312.2:c.3638T>C, XM_017009312.1:c.3638T>G, XM_017009312.1:c.3638T>C, NM_001285440.2:c.2831T>G, NM_001285440.2:c.2831T>C, NM_001285440.1:c.2831T>G, NM_001285440.1:c.2831T>C, XM_047417068.1:c.3527T>G, XM_047417068.1:c.3527T>C, XM_047417069.1:c.3638T>G, XM_047417069.1:c.3638T>C, XM_047417070.1:c.3638T>G, XM_047417070.1:c.3638T>C, NP_689969.2:p.Ile1229Arg, NP_689969.2:p.Ile1229Thr, XP_006714526.1:p.Ile1229Arg, XP_006714526.1:p.Ile1229Thr, XP_011512308.1:p.Ile1166Arg, XP_011512308.1:p.Ile1166Thr, XP_011512307.1:p.Ile1229Arg, XP_011512307.1:p.Ile1229Thr, NP_001272368.1:p.Ile1229Arg, NP_001272368.1:p.Ile1229Thr, XP_016864800.1:p.Ile1213Arg, XP_016864800.1:p.Ile1213Thr, XP_016864801.1:p.Ile1213Arg, XP_016864801.1:p.Ile1213Thr, NP_001272369.1:p.Ile944Arg, NP_001272369.1:p.Ile944Thr, XP_047273024.1:p.Ile1176Arg, XP_047273024.1:p.Ile1176Thr, XP_047273025.1:p.Ile1213Arg, XP_047273025.1:p.Ile1213Thr, XP_047273026.1:p.Ile1213Arg, XP_047273026.1:p.Ile1213Thr

Select item 14874732436.

rs1487473243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 5:38949867 (GRCh38)
5:38949969 (GRCh37)
Canonical SPDI:: NC_000005.10:38949866:A:C,NC_000005.10:38949866:A:G,NC_000005.10:38949866:A:T
Gene:: RICTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.38949867A>C, NC_000005.10:g.38949867A>G, NC_000005.10:g.38949867A>T, NC_000005.9:g.38949969A>C, NC_000005.9:g.38949969A>G, NC_000005.9:g.38949969A>T, NM_152756.5:c.3981T>G, NM_152756.5:c.3981T>C, NM_152756.5:c.3981T>A, NM_152756.4:c.3981T>G, NM_152756.4:c.3981T>C, NM_152756.4:c.3981T>A, NM_152756.3:c.3981T>G, NM_152756.3:c.3981T>C, NM_152756.3:c.3981T>A, XM_006714463.4:c.3981T>G, XM_006714463.4:c.3981T>C, XM_006714463.4:c.3981T>A, XM_006714463.3:c.3981T>G, XM_006714463.3:c.3981T>C, XM_006714463.3:c.3981T>A, XM_006714463.2:c.3981T>G, XM_006714463.2:c.3981T>C, XM_006714463.2:c.3981T>A, XM_006714463.1:c.3981T>G, XM_006714463.1:c.3981T>C, XM_006714463.1:c.3981T>A, XM_011514006.4:c.3792T>G, XM_011514006.4:c.3792T>C, XM_011514006.4:c.3792T>A, XM_011514006.3:c.3792T>G, XM_011514006.3:c.3792T>C, XM_011514006.3:c.3792T>A, XM_011514006.2:c.3792T>G, XM_011514006.2:c.3792T>C, XM_011514006.2:c.3792T>A, XM_011514006.1:c.3792T>G, XM_011514006.1:c.3792T>C, XM_011514006.1:c.3792T>A, XM_011514005.3:c.3981T>G, XM_011514005.3:c.3981T>C, XM_011514005.3:c.3981T>A, XM_011514005.2:c.3981T>G, XM_011514005.2:c.3981T>C, XM_011514005.2:c.3981T>A, XM_011514005.1:c.3981T>G, XM_011514005.1:c.3981T>C, XM_011514005.1:c.3981T>A, NM_001285439.2:c.3981T>G, NM_001285439.2:c.3981T>C, NM_001285439.2:c.3981T>A, NM_001285439.1:c.3981T>G, NM_001285439.1:c.3981T>C, NM_001285439.1:c.3981T>A, XM_017009311.2:c.3933T>G, XM_017009311.2:c.3933T>C, XM_017009311.2:c.3933T>A, XM_017009311.1:c.3933T>G, XM_017009311.1:c.3933T>C, XM_017009311.1:c.3933T>A, XM_017009312.2:c.3933T>G, XM_017009312.2:c.3933T>C, XM_017009312.2:c.3933T>A, XM_017009312.1:c.3933T>G, XM_017009312.1:c.3933T>C, XM_017009312.1:c.3933T>A, NM_001285440.2:c.3126T>G, NM_001285440.2:c.3126T>C, NM_001285440.2:c.3126T>A, NM_001285440.1:c.3126T>G, NM_001285440.1:c.3126T>C, NM_001285440.1:c.3126T>A, XM_047417068.1:c.3822T>G, XM_047417068.1:c.3822T>C, XM_047417068.1:c.3822T>A, XM_047417069.1:c.3933T>G, XM_047417069.1:c.3933T>C, XM_047417069.1:c.3933T>A, XM_047417070.1:c.3933T>G, XM_047417070.1:c.3933T>C, XM_047417070.1:c.3933T>A

Select item 14871984967.

rs1487198496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:38945713 (GRCh38)
5:38945815 (GRCh37)
Canonical SPDI:: NC_000005.10:38945712:C:T
Gene:: OSMR (Varview), RICTOR (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.38945713C>T, NC_000005.9:g.38945815C>T, NM_152756.5:c.4411G>A, NM_152756.4:c.4411G>A, NM_152756.3:c.4411G>A, XM_011514006.4:c.4294G>A, XM_011514006.3:c.4294G>A, XM_011514006.2:c.4294G>A, XM_011514006.1:c.4294G>A, NM_001285439.2:c.4483G>A, NM_001285439.1:c.4483G>A, XM_017009311.2:c.4435G>A, XM_017009311.1:c.4435G>A, XM_017009312.2:c.4363G>A, XM_017009312.1:c.4363G>A, XM_047417068.1:c.4324G>A, NP_689969.2:p.Gly1471Arg, XP_011512308.1:p.Gly1432Arg, NP_001272368.1:p.Gly1495Arg, XP_016864800.1:p.Gly1479Arg, XP_016864801.1:p.Gly1455Arg, XP_047273024.1:p.Gly1442Arg

Select item 14864607128.

rs1486460712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:38959267 (GRCh38)
5:38959369 (GRCh37)
Canonical SPDI:: NC_000005.10:38959266:A:T
Gene:: RICTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.38959267A>T, NC_000005.9:g.38959369A>T, NM_152756.5:c.2106T>A, NM_152756.4:c.2106T>A, NM_152756.3:c.2106T>A, XM_006714463.4:c.2106T>A, XM_006714463.3:c.2106T>A, XM_006714463.2:c.2106T>A, XM_006714463.1:c.2106T>A, XM_011514006.4:c.1917T>A, XM_011514006.3:c.1917T>A, XM_011514006.2:c.1917T>A, XM_011514006.1:c.1917T>A, XM_011514005.3:c.2106T>A, XM_011514005.2:c.2106T>A, XM_011514005.1:c.2106T>A, NM_001285439.2:c.2106T>A, NM_001285439.1:c.2106T>A, XM_017009311.2:c.2058T>A, XM_017009311.1:c.2058T>A, XM_017009312.2:c.2058T>A, XM_017009312.1:c.2058T>A, NM_001285440.2:c.1251T>A, NM_001285440.1:c.1251T>A, XM_047417068.1:c.1947T>A, XM_047417069.1:c.2058T>A, XM_047417070.1:c.2058T>A

Select item 14860829989.

rs1486082998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:38964811 (GRCh38)
5:38964913 (GRCh37)
Canonical SPDI:: NC_000005.10:38964810:T:C
Gene:: RICTOR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.38964811T>C, NC_000005.9:g.38964913T>C, NM_152756.5:c.1381A>G, NM_152756.4:c.1381A>G, NM_152756.3:c.1381A>G, XM_006714463.4:c.1381A>G, XM_006714463.3:c.1381A>G, XM_006714463.2:c.1381A>G, XM_006714463.1:c.1381A>G, XM_011514006.4:c.1192A>G, XM_011514006.3:c.1192A>G, XM_011514006.2:c.1192A>G, XM_011514006.1:c.1192A>G, XM_011514005.3:c.1381A>G, XM_011514005.2:c.1381A>G, XM_011514005.1:c.1381A>G, NM_001285439.2:c.1381A>G, NM_001285439.1:c.1381A>G, XM_017009311.2:c.1333A>G, XM_017009311.1:c.1333A>G, XM_017009312.2:c.1333A>G, XM_017009312.1:c.1333A>G, NM_001285440.2:c.526A>G, NM_001285440.1:c.526A>G, XM_047417068.1:c.1222A>G, XM_047417069.1:c.1333A>G, XM_047417070.1:c.1333A>G, NP_689969.2:p.Ile461Val, XP_006714526.1:p.Ile461Val, XP_011512308.1:p.Ile398Val, XP_011512307.1:p.Ile461Val, NP_001272368.1:p.Ile461Val, XP_016864800.1:p.Ile445Val, XP_016864801.1:p.Ile445Val, NP_001272369.1:p.Ile176Val, XP_047273024.1:p.Ile408Val, XP_047273025.1:p.Ile445Val, XP_047273026.1:p.Ile445Val

Select item 148595695310.

rs1485956953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:39074133 (GRCh38)
5:39074235 (GRCh37)
Canonical SPDI:: NC_000005.10:39074132:G:A
Gene:: RICTOR (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.39074133G>A, NC_000005.9:g.39074235G>A, NM_152756.5:c.75C>T, NM_152756.4:c.75C>T, NM_152756.3:c.75C>T, XM_006714463.4:c.75C>T, XM_006714463.3:c.75C>T, XM_006714463.2:c.75C>T, XM_006714463.1:c.75C>T, XM_011514005.3:c.75C>T, XM_011514005.2:c.75C>T, XM_011514005.1:c.75C>T, NM_001285439.2:c.75C>T, NM_001285439.1:c.75C>T, NM_001285440.2:c.-779C>T, NM_001285440.1:c.-779C>T, XM_047417068.1:c.-167C>T

Select item 148423105011.

rs1484231050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 5:38952338 (GRCh38)
5:38952440 (GRCh37)
Canonical SPDI:: NC_000005.10:38952337:A:C,NC_000005.10:38952337:A:G,NC_000005.10:38952337:A:T
Gene:: RICTOR (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.38952338A>C, NC_000005.10:g.38952338A>G, NC_000005.10:g.38952338A>T, NC_000005.9:g.38952440A>C, NC_000005.9:g.38952440A>G, NC_000005.9:g.38952440A>T, NM_152756.5:c.2985T>G, NM_152756.5:c.2985T>C, NM_152756.5:c.2985T>A, NM_152756.4:c.2985T>G, NM_152756.4:c.2985T>C, NM_152756.4:c.2985T>A, NM_152756.3:c.2985T>G, NM_152756.3:c.2985T>C, NM_152756.3:c.2985T>A, XM_006714463.4:c.2985T>G, XM_006714463.4:c.2985T>C, XM_006714463.4:c.2985T>A, XM_006714463.3:c.2985T>G, XM_006714463.3:c.2985T>C, XM_006714463.3:c.2985T>A, XM_006714463.2:c.2985T>G, XM_006714463.2:c.2985T>C, XM_006714463.2:c.2985T>A, XM_006714463.1:c.2985T>G, XM_006714463.1:c.2985T>C, XM_006714463.1:c.2985T>A, XM_011514006.4:c.2796T>G, XM_011514006.4:c.2796T>C, XM_011514006.4:c.2796T>A, XM_011514006.3:c.2796T>G, XM_011514006.3:c.2796T>C, XM_011514006.3:c.2796T>A, XM_011514006.2:c.2796T>G, XM_011514006.2:c.2796T>C, XM_011514006.2:c.2796T>A, XM_011514006.1:c.2796T>G, XM_011514006.1:c.2796T>C, XM_011514006.1:c.2796T>A, XM_011514005.3:c.2985T>G, XM_011514005.3:c.2985T>C, XM_011514005.3:c.2985T>A, XM_011514005.2:c.2985T>G, XM_011514005.2:c.2985T>C, XM_011514005.2:c.2985T>A, XM_011514005.1:c.2985T>G, XM_011514005.1:c.2985T>C, XM_011514005.1:c.2985T>A, NM_001285439.2:c.2985T>G, NM_001285439.2:c.2985T>C, NM_001285439.2:c.2985T>A, NM_001285439.1:c.2985T>G, NM_001285439.1:c.2985T>C, NM_001285439.1:c.2985T>A, XM_017009311.2:c.2937T>G, XM_017009311.2:c.2937T>C, XM_017009311.2:c.2937T>A, XM_017009311.1:c.2937T>G, XM_017009311.1:c.2937T>C, XM_017009311.1:c.2937T>A, XM_017009312.2:c.2937T>G, XM_017009312.2:c.2937T>C, XM_017009312.2:c.2937T>A, XM_017009312.1:c.2937T>G, XM_017009312.1:c.2937T>C, XM_017009312.1:c.2937T>A, NM_001285440.2:c.2130T>G, NM_001285440.2:c.2130T>C, NM_001285440.2:c.2130T>A, NM_001285440.1:c.2130T>G, NM_001285440.1:c.2130T>C, NM_001285440.1:c.2130T>A, XM_047417068.1:c.2826T>G, XM_047417068.1:c.2826T>C, XM_047417068.1:c.2826T>A, XM_047417069.1:c.2937T>G, XM_047417069.1:c.2937T>C, XM_047417069.1:c.2937T>A, XM_047417070.1:c.2937T>G, XM_047417070.1:c.2937T>C, XM_047417070.1:c.2937T>A, NP_689969.2:p.His995Gln, NP_689969.2:p.His995Gln, XP_006714526.1:p.His995Gln, XP_006714526.1:p.His995Gln, XP_011512308.1:p.His932Gln, XP_011512308.1:p.His932Gln, XP_011512307.1:p.His995Gln, XP_011512307.1:p.His995Gln, NP_001272368.1:p.His995Gln, NP_001272368.1:p.His995Gln, XP_016864800.1:p.His979Gln, XP_016864800.1:p.His979Gln, XP_016864801.1:p.His979Gln, XP_016864801.1:p.His979Gln, NP_001272369.1:p.His710Gln, NP_001272369.1:p.His710Gln, XP_047273024.1:p.His942Gln, XP_047273024.1:p.His942Gln, XP_047273025.1:p.His979Gln, XP_047273025.1:p.His979Gln, XP_047273026.1:p.His979Gln, XP_047273026.1:p.His979Gln

Select item 148422712212.

rs1484227122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:38952403 (GRCh38)
5:38952505 (GRCh37)
Canonical SPDI:: NC_000005.10:38952402:G:C
Gene:: RICTOR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000324/6 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000071/10 (GnomAD)
C=0.001339/6 (Estonian)
HGVS:: NC_000005.10:g.38952403G>C, NC_000005.9:g.38952505G>C, NM_152756.5:c.2920C>G, NM_152756.4:c.2920C>G, NM_152756.3:c.2920C>G, XM_006714463.4:c.2920C>G, XM_006714463.3:c.2920C>G, XM_006714463.2:c.2920C>G, XM_006714463.1:c.2920C>G, XM_011514006.4:c.2731C>G, XM_011514006.3:c.2731C>G, XM_011514006.2:c.2731C>G, XM_011514006.1:c.2731C>G, XM_011514005.3:c.2920C>G, XM_011514005.2:c.2920C>G, XM_011514005.1:c.2920C>G, NM_001285439.2:c.2920C>G, NM_001285439.1:c.2920C>G, XM_017009311.2:c.2872C>G, XM_017009311.1:c.2872C>G, XM_017009312.2:c.2872C>G, XM_017009312.1:c.2872C>G, NM_001285440.2:c.2065C>G, NM_001285440.1:c.2065C>G, XM_047417068.1:c.2761C>G, XM_047417069.1:c.2872C>G, XM_047417070.1:c.2872C>G, NP_689969.2:p.Leu974Val, XP_006714526.1:p.Leu974Val, XP_011512308.1:p.Leu911Val, XP_011512307.1:p.Leu974Val, NP_001272368.1:p.Leu974Val, XP_016864800.1:p.Leu958Val, XP_016864801.1:p.Leu958Val, NP_001272369.1:p.Leu689Val, XP_047273024.1:p.Leu921Val, XP_047273025.1:p.Leu958Val, XP_047273026.1:p.Leu958Val

Select item 148008414813.

rs1480084148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:38957661 (GRCh38)
5:38957763 (GRCh37)
Canonical SPDI:: NC_000005.10:38957660:C:G
Gene:: RICTOR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.38957661C>G, NC_000005.9:g.38957763C>G, NM_152756.5:c.2490G>C, NM_152756.4:c.2490G>C, NM_152756.3:c.2490G>C, XM_006714463.4:c.2490G>C, XM_006714463.3:c.2490G>C, XM_006714463.2:c.2490G>C, XM_006714463.1:c.2490G>C, XM_011514006.4:c.2301G>C, XM_011514006.3:c.2301G>C, XM_011514006.2:c.2301G>C, XM_011514006.1:c.2301G>C, XM_011514005.3:c.2490G>C, XM_011514005.2:c.2490G>C, XM_011514005.1:c.2490G>C, NM_001285439.2:c.2490G>C, NM_001285439.1:c.2490G>C, XM_017009311.2:c.2442G>C, XM_017009311.1:c.2442G>C, XM_017009312.2:c.2442G>C, XM_017009312.1:c.2442G>C, NM_001285440.2:c.1635G>C, NM_001285440.1:c.1635G>C, XM_047417068.1:c.2331G>C, XM_047417069.1:c.2442G>C, XM_047417070.1:c.2442G>C, NP_689969.2:p.Lys830Asn, XP_006714526.1:p.Lys830Asn, XP_011512308.1:p.Lys767Asn, XP_011512307.1:p.Lys830Asn, NP_001272368.1:p.Lys830Asn, XP_016864800.1:p.Lys814Asn, XP_016864801.1:p.Lys814Asn, NP_001272369.1:p.Lys545Asn, XP_047273024.1:p.Lys777Asn, XP_047273025.1:p.Lys814Asn, XP_047273026.1:p.Lys814Asn

Select item 147985554614.

rs1479855546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:38952344 (GRCh38)
5:38952446 (GRCh37)
Canonical SPDI:: NC_000005.10:38952343:C:A,NC_000005.10:38952343:C:G
Gene:: RICTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.38952344C>A, NC_000005.10:g.38952344C>G, NC_000005.9:g.38952446C>A, NC_000005.9:g.38952446C>G, NM_152756.5:c.2979G>T, NM_152756.5:c.2979G>C, NM_152756.4:c.2979G>T, NM_152756.4:c.2979G>C, NM_152756.3:c.2979G>T, NM_152756.3:c.2979G>C, XM_006714463.4:c.2979G>T, XM_006714463.4:c.2979G>C, XM_006714463.3:c.2979G>T, XM_006714463.3:c.2979G>C, XM_006714463.2:c.2979G>T, XM_006714463.2:c.2979G>C, XM_006714463.1:c.2979G>T, XM_006714463.1:c.2979G>C, XM_011514006.4:c.2790G>T, XM_011514006.4:c.2790G>C, XM_011514006.3:c.2790G>T, XM_011514006.3:c.2790G>C, XM_011514006.2:c.2790G>T, XM_011514006.2:c.2790G>C, XM_011514006.1:c.2790G>T, XM_011514006.1:c.2790G>C, XM_011514005.3:c.2979G>T, XM_011514005.3:c.2979G>C, XM_011514005.2:c.2979G>T, XM_011514005.2:c.2979G>C, XM_011514005.1:c.2979G>T, XM_011514005.1:c.2979G>C, NM_001285439.2:c.2979G>T, NM_001285439.2:c.2979G>C, NM_001285439.1:c.2979G>T, NM_001285439.1:c.2979G>C, XM_017009311.2:c.2931G>T, XM_017009311.2:c.2931G>C, XM_017009311.1:c.2931G>T, XM_017009311.1:c.2931G>C, XM_017009312.2:c.2931G>T, XM_017009312.2:c.2931G>C, XM_017009312.1:c.2931G>T, XM_017009312.1:c.2931G>C, NM_001285440.2:c.2124G>T, NM_001285440.2:c.2124G>C, NM_001285440.1:c.2124G>T, NM_001285440.1:c.2124G>C, XM_047417068.1:c.2820G>T, XM_047417068.1:c.2820G>C, XM_047417069.1:c.2931G>T, XM_047417069.1:c.2931G>C, XM_047417070.1:c.2931G>T, XM_047417070.1:c.2931G>C

Select item 147950715715.

rs1479507157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:38959864 (GRCh38)
5:38959966 (GRCh37)
Canonical SPDI:: NC_000005.10:38959863:T:C
Gene:: RICTOR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.38959864T>C, NC_000005.9:g.38959966T>C, NM_152756.5:c.1966A>G, NM_152756.4:c.1966A>G, NM_152756.3:c.1966A>G, XM_006714463.4:c.1966A>G, XM_006714463.3:c.1966A>G, XM_006714463.2:c.1966A>G, XM_006714463.1:c.1966A>G, XM_011514006.4:c.1777A>G, XM_011514006.3:c.1777A>G, XM_011514006.2:c.1777A>G, XM_011514006.1:c.1777A>G, XM_011514005.3:c.1966A>G, XM_011514005.2:c.1966A>G, XM_011514005.1:c.1966A>G, NM_001285439.2:c.1966A>G, NM_001285439.1:c.1966A>G, XM_017009311.2:c.1918A>G, XM_017009311.1:c.1918A>G, XM_017009312.2:c.1918A>G, XM_017009312.1:c.1918A>G, NM_001285440.2:c.1111A>G, NM_001285440.1:c.1111A>G, XM_047417068.1:c.1807A>G, XM_047417069.1:c.1918A>G, XM_047417070.1:c.1918A>G, NP_689969.2:p.Ser656Gly, XP_006714526.1:p.Ser656Gly, XP_011512308.1:p.Ser593Gly, XP_011512307.1:p.Ser656Gly, NP_001272368.1:p.Ser656Gly, XP_016864800.1:p.Ser640Gly, XP_016864801.1:p.Ser640Gly, NP_001272369.1:p.Ser371Gly, XP_047273024.1:p.Ser603Gly, XP_047273025.1:p.Ser640Gly, XP_047273026.1:p.Ser640Gly

Select item 147906437216.

rs1479064372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:38981883 (GRCh38)
5:38981985 (GRCh37)
Canonical SPDI:: NC_000005.10:38981882:G:A
Gene:: RICTOR (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.38981883G>A, NC_000005.9:g.38981985G>A, NM_152756.5:c.737C>T, NM_152756.4:c.737C>T, NM_152756.3:c.737C>T, XM_006714463.4:c.737C>T, XM_006714463.3:c.737C>T, XM_006714463.2:c.737C>T, XM_006714463.1:c.737C>T, XM_011514006.4:c.548C>T, XM_011514006.3:c.548C>T, XM_011514006.2:c.548C>T, XM_011514006.1:c.548C>T, XM_011514005.3:c.737C>T, XM_011514005.2:c.737C>T, XM_011514005.1:c.737C>T, NM_001285439.2:c.737C>T, NM_001285439.1:c.737C>T, XM_017009311.2:c.689C>T, XM_017009311.1:c.689C>T, XM_017009312.2:c.689C>T, XM_017009312.1:c.689C>T, NM_001285440.2:c.-117C>T, NM_001285440.1:c.-117C>T, XM_047417068.1:c.578C>T, XM_047417069.1:c.689C>T, XM_047417070.1:c.689C>T, NP_689969.2:p.Ala246Val, XP_006714526.1:p.Ala246Val, XP_011512308.1:p.Ala183Val, XP_011512307.1:p.Ala246Val, NP_001272368.1:p.Ala246Val, XP_016864800.1:p.Ala230Val, XP_016864801.1:p.Ala230Val, XP_047273024.1:p.Ala193Val, XP_047273025.1:p.Ala230Val, XP_047273026.1:p.Ala230Val

Select item 147809503517.

rs1478095035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:38958508 (GRCh38)
5:38958610 (GRCh37)
Canonical SPDI:: NC_000005.10:38958507:A:G
Gene:: RICTOR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000005.10:g.38958508A>G, NC_000005.9:g.38958610A>G, NM_152756.5:c.2355T>C, NM_152756.4:c.2355T>C, NM_152756.3:c.2355T>C, XM_006714463.4:c.2355T>C, XM_006714463.3:c.2355T>C, XM_006714463.2:c.2355T>C, XM_006714463.1:c.2355T>C, XM_011514006.4:c.2166T>C, XM_011514006.3:c.2166T>C, XM_011514006.2:c.2166T>C, XM_011514006.1:c.2166T>C, XM_011514005.3:c.2355T>C, XM_011514005.2:c.2355T>C, XM_011514005.1:c.2355T>C, NM_001285439.2:c.2355T>C, NM_001285439.1:c.2355T>C, XM_017009311.2:c.2307T>C, XM_017009311.1:c.2307T>C, XM_017009312.2:c.2307T>C, XM_017009312.1:c.2307T>C, NM_001285440.2:c.1500T>C, NM_001285440.1:c.1500T>C, XM_047417068.1:c.2196T>C, XM_047417069.1:c.2307T>C, XM_047417070.1:c.2307T>C

Select item 147774153118.

rs1477741531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:39021108 (GRCh38)
5:39021210 (GRCh37)
Canonical SPDI:: NC_000005.10:39021107:G:A
Gene:: RICTOR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.39021108G>A, NC_000005.9:g.39021210G>A, NM_152756.5:c.126C>T, NM_152756.4:c.126C>T, NM_152756.3:c.126C>T, XM_006714463.4:c.126C>T, XM_006714463.3:c.126C>T, XM_006714463.2:c.126C>T, XM_006714463.1:c.126C>T, XM_011514005.3:c.126C>T, XM_011514005.2:c.126C>T, XM_011514005.1:c.126C>T, NM_001285439.2:c.126C>T, NM_001285439.1:c.126C>T, XM_017009311.2:c.78C>T, XM_017009311.1:c.78C>T, XM_017009312.2:c.78C>T, XM_017009312.1:c.78C>T, NM_001285440.2:c.-728C>T, NM_001285440.1:c.-728C>T, XM_047417068.1:c.-34C>T, XM_047417069.1:c.78C>T, XM_047417070.1:c.78C>T

Select item 147739223919.

rs1477392239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:38955661 (GRCh38)
5:38955763 (GRCh37)
Canonical SPDI:: NC_000005.10:38955660:T:C
Gene:: RICTOR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.38955661T>C, NC_000005.9:g.38955763T>C, NM_152756.5:c.2543A>G, NM_152756.4:c.2543A>G, NM_152756.3:c.2543A>G, XM_006714463.4:c.2543A>G, XM_006714463.3:c.2543A>G, XM_006714463.2:c.2543A>G, XM_006714463.1:c.2543A>G, XM_011514006.4:c.2354A>G, XM_011514006.3:c.2354A>G, XM_011514006.2:c.2354A>G, XM_011514006.1:c.2354A>G, XM_011514005.3:c.2543A>G, XM_011514005.2:c.2543A>G, XM_011514005.1:c.2543A>G, NM_001285439.2:c.2543A>G, NM_001285439.1:c.2543A>G, XM_017009311.2:c.2495A>G, XM_017009311.1:c.2495A>G, XM_017009312.2:c.2495A>G, XM_017009312.1:c.2495A>G, NM_001285440.2:c.1688A>G, NM_001285440.1:c.1688A>G, XM_047417068.1:c.2384A>G, XM_047417069.1:c.2495A>G, XM_047417070.1:c.2495A>G, NP_689969.2:p.Asn848Ser, XP_006714526.1:p.Asn848Ser, XP_011512308.1:p.Asn785Ser, XP_011512307.1:p.Asn848Ser, NP_001272368.1:p.Asn848Ser, XP_016864800.1:p.Asn832Ser, XP_016864801.1:p.Asn832Ser, NP_001272369.1:p.Asn563Ser, XP_047273024.1:p.Asn795Ser, XP_047273025.1:p.Asn832Ser, XP_047273026.1:p.Asn832Ser

Select item 147473391820.

rs1474733918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:38942912 (GRCh38)
5:38943014 (GRCh37)
Canonical SPDI:: NC_000005.10:38942911:T:A
Gene:: OSMR (Varview), RICTOR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.38942912T>A, NC_000005.9:g.38943014T>A, NM_152756.5:c.4973A>T, NM_152756.4:c.4973A>T, NM_152756.3:c.4973A>T, XM_006714463.4:c.4859A>T, XM_006714463.3:c.4859A>T, XM_006714463.2:c.4859A>T, XM_006714463.1:c.4859A>T, XM_011514006.4:c.4856A>T, XM_011514006.3:c.4856A>T, XM_011514006.2:c.4856A>T, XM_011514006.1:c.4856A>T, XM_011514005.3:c.4931A>T, XM_011514005.2:c.4931A>T, XM_011514005.1:c.4931A>T, NM_001285439.2:c.5045A>T, NM_001285439.1:c.5045A>T, XM_017009311.2:c.4997A>T, XM_017009311.1:c.4997A>T, XM_017009312.2:c.4925A>T, XM_017009312.1:c.4925A>T, NM_001285440.2:c.4004A>T, NM_001285440.1:c.4004A>T, XM_047417068.1:c.4886A>T, XM_047417069.1:c.4883A>T, XM_047417070.1:c.4811A>T, NP_689969.2:p.His1658Leu, XP_006714526.1:p.His1620Leu, XP_011512308.1:p.His1619Leu, XP_011512307.1:p.His1644Leu, NP_001272368.1:p.His1682Leu, XP_016864800.1:p.His1666Leu, XP_016864801.1:p.His1642Leu, NP_001272369.1:p.His1335Leu, XP_047273024.1:p.His1629Leu, XP_047273025.1:p.His1628Leu, XP_047273026.1:p.His1604Leu

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